Assocition id PMID ncRNA SNP Allel Inheritance model Sample Disease ontology Treatment Clinical significance Disease Evidence description Association score Publication title NCRV0000002577 24978643 MIR149 rs2292832 C N/a 350 esrd patients and 350 age-matched, sex-matched, and ethnically matched controls. EFO_0003884 N/A No significance for risk Acute allograft rejection in end-stage renal disease rs2292832-C of MIR149 and its dysfunction is not significantly associated with acute allograft rejection in end-stage renal disease by using case-control analysis in 350 ESRD patients and 350 age-matched, sex-matched, and ethnically matched controls 0.4 Genetic variants of MicroRNA-related genes in susceptibility and prognosis of end-stage renal disease and renal allograft outcome among north Indians. NCRV0000003274 24978643 MIR146A rs2910164 G Recessive 350 esrd patients and 350 age-matched, sex-matched, and ethnically matched controls. EFO_0003884 N/A Increasing risk Acute allograft rejection in end-stage renal disease rs2910164-G of MIR146A and its dysfunction is significantly associated with the increasing risk of acute allograft rejection in end-stage renal disease by using case-control analysis in 350 ESRD patients and 350 age-matched, sex-matched, and ethnically matched controls 0.4 Genetic variants of MicroRNA-related genes in susceptibility and prognosis of end-stage renal disease and renal allograft outcome among north Indians. NCRV0000001293 24978643 MIR499A rs3746444 G Recessive 350 esrd patients and 350 age-matched, sex-matched, and ethnically matched controls. EFO_0003884 N/A Increasing risk Acute allograft rejection in end-stage renal disease rs3746444-G of MIR499A and its dysfunction is significantly associated with the increasing risk of acute allograft rejection in end-stage renal disease by using case-control analysis in 350 ESRD patients and 350 age-matched, sex-matched, and ethnically matched controls 0.4 Genetic variants of MicroRNA-related genes in susceptibility and prognosis of end-stage renal disease and renal allograft outcome among north Indians. NCRV0000000658 23928854 miR-196a rs11614913 T N/a 209 acute anterior uveitis with ankylosing spondylitis patients and 1,685 controls all belonging to a chinese han population EFO_1000811 N/A No significance for risk Acute anterior uveitis (aau) rs11614913-T of miR-196a and its dysfunction is not significantly associated with acute anterior uveitis (AAU) by using case-control analysis in 209 acute anterior uveitis with ankylosing spondylitis patients and 1,685 controls all belonging to a Chinese Han population. 0.4 A functional variant of pre-miRNA-196a2 confers risk for Behcet's disease but not for Vogt-Koyanagi-Harada syndrome or AAU in ankylosing spondylitis. NCRV0000000197 26537765 miR-196a2 rs11614913 C N/a 722 acute coronary syndrome patients and 721 control subjects EFO_0005672 N/A No significance for risk Acute coronary syndrome rs11614913-C of miR-196a2 and its dysfunction is not significantly associated with acute coronary syndrome by using case-control analysis in 722 acute coronary syndrome patients and 721 control subjects. 0.4 A Genetic Variant in Pre-miR-146a (rs2910164 C>G) Is Associated with the Decreased Risk of Acute Coronary Syndrome in a Chinese Population. NCRV0000000039 26537765 miR-146a rs2910164 G Dominant 722 acute coronary syndrome patients and 721 control subjects EFO_0005672 N/A Decreasing risk Acute coronary syndrome rs2910164-G of miR-146a and its dysfunction is significantly associated with the decreasing risk of acute coronary syndrome by using case-control analysis in 722 acute coronary syndrome patients and 721 control subjects. 0.4 A Genetic Variant in Pre-miR-146a (rs2910164 C>G) Is Associated with the Decreased Risk of Acute Coronary Syndrome in a Chinese Population. NCRV0000000299 29382303 miR-204 rs112062096 G N/a 95 aml patients and 148 healthy individuals EFO_0000222 N/A No significance for risk Acute myeloid leukaemia rs112062096-G of miR-204 and its dysfunction is not significantly associated with acute myeloid leukaemia by using case-control analysis in 95 AML patients and 148 healthy individuals. 0.4 Genetic variation of the gene coding for microRNA-204 (miR-204) is a risk factor in acute myeloid leukaemia. NCRV0000001955 29382303 miR-204 rs718447 G Recessive 95 aml patients and 148 healthy individuals EFO_0000222 N/A Increasing risk Acute myeloid leukaemia rs718447-G of miR-204 and its dysfunction is significantly associated with the increasing risk of acute myeloid leukaemia by using case-control analysis in 95 AML patients and 148 healthy individuals. By using the disease cell lines or tissues, the mutation of miR-204 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Genetic variation of the gene coding for microRNA-204 (miR-204) is a risk factor in acute myeloid leukaemia. NCRV0000001772 27951730 GAS5 rs55829688 C Recessive 313 aml patients EFO_0000222 N/A Poor prognosis Acute myeloid leukemia rs55829688-C of GAS5 and its dysfunction is significantly associated with the poor prognosis of acute myeloid leukemia by using analysis of sequence variation in 313 AML patients. By using the disease cell lines or tissues, the mutation of GAS5 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. Moreover, the ncRNA variation-disease association was validated by complex experiments. 1.4 Long non-coding RNA GAS5 polymorphism predicts a poor prognosis of acute myeloid leukemia in Chinese patients via affecting hematopoietic reconstitution. NCRV0000000534 27951730 GAS5 rs75315904 G N/a 313 aml patients EFO_0000222 N/A No significance for prognosis Acute myeloid leukemia rs75315904-G of GAS5 and its dysfunction is not significantly associated with acute myeloid leukemia by using analysis of sequence variation in 313 AML patients. 0.4 Long non-coding RNA GAS5 polymorphism predicts a poor prognosis of acute myeloid leukemia in Chinese patients via affecting hematopoietic reconstitution. NCRV0000001669 27951730 H19 rs3741216 T N/a 313 aml patients EFO_0000222 N/A No significance for prognosis Acute myeloid leukemia rs3741216-T of H19 and its dysfunction is not significantly associated with acute myeloid leukemia by using analysis of sequence variation in 313 AML patients. 0.4 Long non-coding RNA GAS5 polymorphism predicts a poor prognosis of acute myeloid leukemia in Chinese patients via affecting hematopoietic reconstitution. NCRV0000001952 27951730 H19 rs2839702 T N/a 313 aml patients EFO_0000222 N/A No significance for prognosis Acute myeloid leukemia rs2839702-T of H19 and its dysfunction is not significantly associated with acute myeloid leukemia by using analysis of sequence variation in 313 AML patients. 0.4 Long non-coding RNA GAS5 polymorphism predicts a poor prognosis of acute myeloid leukemia in Chinese patients via affecting hematopoietic reconstitution. NCRV0000002074 27951730 H19 rs2067051 G N/a 313 aml patients EFO_0000222 N/A No significance for prognosis Acute myeloid leukemia rs2067051-G of H19 and its dysfunction is not significantly associated with acute myeloid leukemia by using analysis of sequence variation in 313 AML patients. 0.4 Long non-coding RNA GAS5 polymorphism predicts a poor prognosis of acute myeloid leukemia in Chinese patients via affecting hematopoietic reconstitution. NCRV0000002468 27951730 H19 rs2839698 T N/a 313 aml patients EFO_0000222 N/A No significance for prognosis Acute myeloid leukemia rs2839698-T of H19 and its dysfunction is not significantly associated with acute myeloid leukemia by using analysis of sequence variation in 313 AML patients. 0.4 Long non-coding RNA GAS5 polymorphism predicts a poor prognosis of acute myeloid leukemia in Chinese patients via affecting hematopoietic reconstitution. NCRV0000000976 27951730 H19 rs2251375 C N/a 313 aml patients EFO_0000222 N/A No significance for prognosis Acute myeloid leukemia rs2251375-C of H19 and its dysfunction is not significantly associated with acute myeloid leukemia by using analysis of sequence variation in 313 AML patients. 0.4 Long non-coding RNA GAS5 polymorphism predicts a poor prognosis of acute myeloid leukemia in Chinese patients via affecting hematopoietic reconstitution. NCRV0000000086 27951730 H19 rs2158394 G N/a 313 aml patients EFO_0000222 N/A No significance for prognosis Acute myeloid leukemia rs2158394-G of H19 and its dysfunction is not significantly associated with acute myeloid leukemia by using analysis of sequence variation in 313 AML patients. 0.4 Long non-coding RNA GAS5 polymorphism predicts a poor prognosis of acute myeloid leukemia in Chinese patients via affecting hematopoietic reconstitution. NCRV0000003904 27951730 H19 rs2735972 T N/a 313 aml patients EFO_0000222 N/A No significance for prognosis Acute myeloid leukemia rs2735972-T of H19 and its dysfunction is not significantly associated with acute myeloid leukemia by using analysis of sequence variation in 313 AML patients. 0.4 Long non-coding RNA GAS5 polymorphism predicts a poor prognosis of acute myeloid leukemia in Chinese patients via affecting hematopoietic reconstitution. NCRV0000003034 27951730 WT1-AS rs2234580 T N/a 313 aml patients EFO_0000222 N/A No significance for prognosis Acute myeloid leukemia rs2234580-T of WT1-AS and its dysfunction is not significantly associated with acute myeloid leukemia by using analysis of sequence variation in 313 AML patients. 0.4 Long non-coding RNA GAS5 polymorphism predicts a poor prognosis of acute myeloid leukemia in Chinese patients via affecting hematopoietic reconstitution. NCRV0000000176 27951730 WT1-AS rs10835908 G N/a 313 aml patients EFO_0000222 N/A No significance for prognosis Acute myeloid leukemia rs10835908-G of WT1-AS and its dysfunction is not significantly associated with acute myeloid leukemia by using analysis of sequence variation in 313 AML patients. 0.4 Long non-coding RNA GAS5 polymorphism predicts a poor prognosis of acute myeloid leukemia in Chinese patients via affecting hematopoietic reconstitution. NCRV0000000824 27951730 WT1-AS rs11031783 C N/a 313 aml patients EFO_0000222 N/A No significance for prognosis Acute myeloid leukemia rs11031783-C of WT1-AS and its dysfunction is not significantly associated with acute myeloid leukemia by using analysis of sequence variation in 313 AML patients. 0.4 Long non-coding RNA GAS5 polymorphism predicts a poor prognosis of acute myeloid leukemia in Chinese patients via affecting hematopoietic reconstitution. NCRV0000000818 27951730 WT1-AS rs3087923 G N/a 313 aml patients EFO_0000222 N/A No significance for prognosis Acute myeloid leukemia rs3087923-G of WT1-AS and its dysfunction is not significantly associated with acute myeloid leukemia by using analysis of sequence variation in 313 AML patients. 0.4 Long non-coding RNA GAS5 polymorphism predicts a poor prognosis of acute myeloid leukemia in Chinese patients via affecting hematopoietic reconstitution. NCRV0000000960 27951730 WT1-AS rs7943101 T N/a 313 aml patients EFO_0000222 N/A No significance for prognosis Acute myeloid leukemia rs7943101-T of WT1-AS and its dysfunction is not significantly associated with acute myeloid leukemia by using analysis of sequence variation in 313 AML patients. 0.4 Long non-coding RNA GAS5 polymorphism predicts a poor prognosis of acute myeloid leukemia in Chinese patients via affecting hematopoietic reconstitution. NCRV0000001613 27951730 WT1-AS rs142949661 T N/a 313 aml patients EFO_0000222 N/A No significance for prognosis Acute myeloid leukemia rs142949661-T of WT1-AS and its dysfunction is not significantly associated with acute myeloid leukemia by using analysis of sequence variation in 313 AML patients. 0.4 Long non-coding RNA GAS5 polymorphism predicts a poor prognosis of acute myeloid leukemia in Chinese patients via affecting hematopoietic reconstitution. NCRV0000001355 27951730 WT1-AS rs7948813 G N/a 313 aml patients EFO_0000222 N/A No significance for prognosis Acute myeloid leukemia rs7948813-G of WT1-AS and its dysfunction is not significantly associated with acute myeloid leukemia by using analysis of sequence variation in 313 AML patients. 0.4 Long non-coding RNA GAS5 polymorphism predicts a poor prognosis of acute myeloid leukemia in Chinese patients via affecting hematopoietic reconstitution. NCRV0000000612 27951730 WT1-AS rs619586 G N/a 313 aml patients EFO_0000222 N/A No significance for prognosis Acute myeloid leukemia rs619586-G of WT1-AS and its dysfunction is not significantly associated with acute myeloid leukemia by using analysis of sequence variation in 313 AML patients. 0.4 Long non-coding RNA GAS5 polymorphism predicts a poor prognosis of acute myeloid leukemia in Chinese patients via affecting hematopoietic reconstitution. NCRV0000000979 27951730 WT1-AS rs664589 G N/a 313 aml patients EFO_0000222 N/A No significance for prognosis Acute myeloid leukemia rs664589-G of WT1-AS and its dysfunction is not significantly associated with acute myeloid leukemia by using analysis of sequence variation in 313 AML patients. 0.4 Long non-coding RNA GAS5 polymorphism predicts a poor prognosis of acute myeloid leukemia in Chinese patients via affecting hematopoietic reconstitution. NCRV0000002109 29016859 MIR4300 rs1828853 ? N/a 2,543 adolescent idiopathic scoliosis subjects EFO_0005423 N/A Increasing risk Adolescent idiopathic scoliosis rs1828853-? of MIR4300 and its dysfunction is significantly associated with the increasing risk of Adolescent idiopathic scoliosis by using genome-wide association analysis in 2,543 Adolescent idiopathic scoliosis subjects. 0.4 A functional variant in MIR4300HG, the host gene of microRNA MIR4300 is associated with progression of adolescent idiopathic scoliosis. NCRV0000003242 25202115 miR-196a2 rs11614913 C N/a 130 advanced gcs performing chemotherapy. EFO_0000178 N/A No significance for risk Advanced gastric cancers (gcs) treated by chemotherapy rs11614913-C of miR-196a2 and its dysfunction is not significantly associated with advanced gastric cancers (GCs) treated by chemotherapy by using case-control analysis in 130 advanced GCs performing chemotherapy 0.4 Association between common genetic variants in pre-microRNAs and prognosis of advanced gastric cancer treated with chemotherapy. NCRV0000003913 25202115 miR-146a rs2910164 T N/a 130 advanced gcs performing chemotherapy. EFO_0000178 N/A No significance for risk Advanced gastric cancers (gcs) treated by chemotherapy rs2910164-T of miR-146a and its dysfunction is not significantly associated with advanced gastric cancers (GCs) treated by chemotherapy by using case-control analysis in 130 advanced GCs performing chemotherapy 0.4 Association between common genetic variants in pre-microRNAs and prognosis of advanced gastric cancer treated with chemotherapy. NCRV0000001405 25202115 miR-499 rs3746444 A Dominant 130 advanced gcs performing chemotherapy. EFO_0000178 N/A Better prognosis Advanced gastric cancers (gcs) treated by chemotherapy rs3746444-A of miR-499 and its dysfunction is significantly associated with the better prognosis of advanced gastric cancers (GCs) treated by chemotherapy by using case-control analysis in 130 advanced GCs performing chemotherapy 0.4 Association between common genetic variants in pre-microRNAs and prognosis of advanced gastric cancer treated with chemotherapy. NCRV0000000177 25683625 miR-605 rs2043556 G N/a 55 caucasian individuals with a germline tp53 mutation Orphanet_524 N/A Increasing risk Age of onset in li-fraumeni syndrome rs2043556-G of miR-605 and its dysfunction is significantly associated with the increasing risk of age of onset in Li-Fraumeni syndrome by using analysis of sequence variation in 55 Caucasian individuals with a germline TP53 mutation. By using the disease cell lines or tissues, the mutation of miR-605 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 A functional variant in miR-605 modifies the age of onset in Li-Fraumeni syndrome. NCRV0000003285 28397307 miR-4513 rs2168518 A Dominant 16,144 advanced amd cases and 17,832 controls EFO_0001365 N/A Increasing risk Age-related macular degeneration rs2168518-A of miR-4513 and its dysfunction is significantly associated with the increasing risk of age-related macular degeneration by using case-control analysis in 16,144 advanced AMD cases and 17,832 controls. 0.4 Genetic variants in microRNAs and their binding sites within gene 3'UTRs associate with susceptibility to age-related macular degeneration. NCRV0000002611 28397307 pre-miR-122/miR-3591 rs41292412 T Dominant 16,144 advanced amd cases and 17,832 controls EFO_0001365 N/A Increasing risk Age-related macular degeneration rs41292412-T of pre-miR-122/miR-3591 and its dysfunction is significantly associated with the increasing risk of age-related macular degeneration by using case-control analysis in 16,144 advanced AMD cases and 17,832 controls. By using the disease cell lines or tissues, the mutation of pre-miR-122/miR-3591 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Genetic variants in microRNAs and their binding sites within gene 3'UTRs associate with susceptibility to age-related macular degeneration. NCRV0000002264 28397307 pre-miR-3135b rs4351242 T Dominant 16,144 advanced amd cases and 17,832 controls EFO_0001365 N/A Increasing risk Age-related macular degeneration rs4351242-T of pre-miR-3135b and its dysfunction is significantly associated with the increasing risk of age-related macular degeneration by using case-control analysis in 16,144 advanced AMD cases and 17,832 controls. By using the disease cell lines or tissues, the mutation of pre-miR-3135b has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Genetic variants in microRNAs and their binding sites within gene 3'UTRs associate with susceptibility to age-related macular degeneration. NCRV0000000130 19214202 ANRIL rs1333042 ? Recessive 151 generalized agp, 137 localized agp, and 1104 controls EFO_0006342 N/A Increasing risk Aggressive periodontitis rs1333042-? of ANRIL and its dysfunction is significantly associated with the increasing risk of aggressive periodontitis by using case-control analysis in 151 Generalized AgP, 137 Localized AgP, and 1104 controls. 0.4 Identification of a shared genetic susceptibility locus for coronary heart disease and periodontitis. NCRV0000003360 19214202 ANRIL rs1333048 ? Recessive 151 generalized agp, 137 localized agp, and 1104 controls EFO_0006342 N/A Increasing risk Aggressive periodontitis rs1333048-? of ANRIL and its dysfunction is significantly associated with the increasing risk of aggressive periodontitis by using case-control analysis in 151 Generalized AgP, 137 Localized AgP, and 1104 controls. 0.4 Identification of a shared genetic susceptibility locus for coronary heart disease and periodontitis. NCRV0000000801 19214202 ANRIL rs2891168 ? Recessive 151 generalized agp, 137 localized agp, and 1104 controls EFO_0006342 N/A Increasing risk Aggressive periodontitis rs2891168-? of ANRIL and its dysfunction is significantly associated with the increasing risk of aggressive periodontitis by using case-control analysis in 151 Generalized AgP, 137 Localized AgP, and 1104 controls. 0.4 Identification of a shared genetic susceptibility locus for coronary heart disease and periodontitis. NCRV0000001015 25841663 miR-124 rs531564 C Dominant 170 young subjects HP_0000718 N/A Increasing risk Aggressiveness rs531564-C of miR-124 and its dysfunction is significantly associated with the increasing risk of aggressiveness by using analysis of sequence variation in 170 young subjects. 0.4 A functional SNP in MIR124-1, a brain expressed miRNA gene, is associated with aggressiveness in a Colombian sample. NCRV0000000719 24630744 miR-196a2 rs11614913 T N/a 301 male patients with auds and 156 sex-matched healthy volunteers EFO_0003829 N/A No significance for risk Alcohol use disorders rs11614913-T of miR-196a2 and its dysfunction is not significantly associated with alcohol use disorders by using case-control analysis in 301 male patients with AUDs and 156 sex-matched healthy volunteers. 0.4 A genetic variant in the microRNA-146a gene is associated with susceptibility to alcohol use disorders. NCRV0000001887 24630744 miRNA-146a rs2910164 C N/a 301 male patients with auds and 156 sex-matched healthy volunteers EFO_0003829 N/A Increasing risk Alcohol use disorders rs2910164-C of miRNA-146a and its dysfunction is significantly associated with the increasing risk of alcohol use disorders by using case-control analysis in 301 male patients with AUDs and 156 sex-matched healthy volunteers. 0.4 A genetic variant in the microRNA-146a gene is associated with susceptibility to alcohol use disorders. NCRV0000003344 28181414 miR-196a2 rs11614913 T N/a 176 ar patients and 206 healthy chinese children as controls EFO_0005854 N/A No significance for risk Allergic rhinitis rs11614913-T of miR-196a2 and its dysfunction is not significantly associated with allergic rhinitis by using case-control analysis in 176 AR patients and 206 healthy Chinese children as controls. 0.4 A functional variant of miRNA-149 confers risk for allergic rhinitis and comorbid asthma in Chinese children. NCRV0000003520 28181414 miR-149 rs2292832 C Recessive 176 ar patients and 206 healthy chinese children as controls EFO_0005854 N/A Increasing risk Allergic rhinitis rs2292832-C of miR-149 and its dysfunction is significantly associated with the increasing risk of allergic rhinitis by using case-control analysis in 176 AR patients and 206 healthy Chinese children as controls. By using the disease cell lines or tissues, the mutation of miR-149 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 A functional variant of miRNA-149 confers risk for allergic rhinitis and comorbid asthma in Chinese children. NCRV0000000045 28181414 miR-146a rs2910164 C N/a 176 ar patients and 206 healthy chinese children as controls EFO_0005854 N/A No significance for risk Allergic rhinitis rs2910164-C of miR-146a and its dysfunction is not significantly associated with allergic rhinitis by using case-control analysis in 176 AR patients and 206 healthy Chinese children as controls. 0.4 A functional variant of miRNA-149 confers risk for allergic rhinitis and comorbid asthma in Chinese children. NCRV0000001532 28181414 miR-499 rs3746444 G N/a 176 ar patients and 206 healthy chinese children as controls EFO_0005854 N/A No significance for risk Allergic rhinitis rs3746444-G of miR-499 and its dysfunction is not significantly associated with allergic rhinitis by using case-control analysis in 176 AR patients and 206 healthy Chinese children as controls. 0.4 A functional variant of miRNA-149 confers risk for allergic rhinitis and comorbid asthma in Chinese children. NCRV0000002985 28181414 miR-146a rs57095329 C N/a 176 ar patients and 206 healthy chinese children as controls EFO_0005854 N/A No significance for risk Allergic rhinitis rs57095329-C of miR-146a and its dysfunction is not significantly associated with allergic rhinitis by using case-control analysis in 176 AR patients and 206 healthy Chinese children as controls. 0.4 A functional variant of miRNA-149 confers risk for allergic rhinitis and comorbid asthma in Chinese children. NCRV0000003721 28181414 miR-146a rs6864584 C N/a 176 ar patients and 206 healthy chinese children as controls EFO_0005854 N/A No significance for risk Allergic rhinitis rs6864584-C of miR-146a and its dysfunction is not significantly associated with allergic rhinitis by using case-control analysis in 176 AR patients and 206 healthy Chinese children as controls. 0.4 A functional variant of miRNA-149 confers risk for allergic rhinitis and comorbid asthma in Chinese children. NCRV0000001192 23065742 TCONS_00021856 rs7990916 C N/a Bigger regional gray matter volume EFO_0000249 N/A Increasing risk Alzheimer disease rs7990916-C of TCONS_00021856 and its dysfunction is significantly associated with the increasing risk of Alzheimer Disease by using genome-wide association analysis in bigger regional gray matter volume. By using the disease cell lines or tissues, the mutation of TCONS_00021856 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Genome-wide analysis of human SNPs at long intergenic noncoding RNAs. NCRV0000001591 22430032 miR-124 rs531564 G N/a 89 sporadic mongolia ad patients and 92 unrelated mongolia healthy controls EFO_0000249 N/A No significance for risk Alzheimer's disease rs531564-G of miR-124 and its dysfunction is not significantly associated with Alzheimer's disease by using case-control analysis in 89 sporadic Mongolia AD patients and 92 unrelated Mongolia healthy controls. 0.4 A SNP site in pri-miR-124 changes mature miR-124 expression but no contribution to Alzheimer's disease in a Mongolian population. NCRV0000000374 25019275 linc01080 rs7990916 C Dominant 106 sad patients, 67 amci patients, and 179 healthy controls in a han chinese population EFO_0000249 N/A No significance for risk Alzheimer's disease rs7990916-C of linc01080 and its dysfunction is not significantly associated with Alzheimer's disease by using case-control analysis in 106 SAD patients, 67 aMCI patients, and 179 healthy controls in a Han Chinese population . 0.4 Lack of association of a genetic variant in the long intergenic noncoding RNA (linc01080) with Alzheimer's disease and amnestic mild cognitive impairment in Han Chinese. NCRV0000002505 26095531 miR-146a-5p rs2910164 C Recessive 103 patients with ad and 206 healthy individuals from shanghai fengxian central hospital EFO_0000249 N/A Increasing risk Alzheimer's disease rs2910164-C of miR-146a-5p and its dysfunction is significantly associated with the increasing risk of Alzheimer's disease by using case-control analysis in 103 patients with AD and 206 healthy individuals from Shanghai Fengxian Central Hospital. By using the disease cell lines or tissues, the interference and mutation of miR-146a-5p has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 A single nucleotide polymorphism in primary-microRNA-146a reduces the expression of mature microRNA-146a in patients with Alzheimer's disease and is associated with the pathogenesis of Alzheimer's disease. NCRV0000002160 26778630 MIR137 rs58335419 4-repeat Dominant 230 healthy participants EFO_0000249 N/A Decreasing risk Alzheimer's disease rs58335419-4-repeat of MIR137 and its dysfunction is significantly associated with the decreasing risk of Alzheimer's disease by using analysis of sequence variation in 230 healthy participants . 0.4 A functional variant in MIR137, a candidate gene for schizophrenia, affects Stroop test performance in young adults. NCRV0000002796 26856603 miR603 rs11014002 T N/a 365 cognitively normal elderly controls , 772 cognitive impairment subjects and 301 ad from the adni database EFO_0000249 N/A Decreasing risk Alzheimer's disease rs11014002-T of miR603 and its dysfunction is significantly associated with the decreasing risk of Alzheimer's disease by using case-control analysis in 365 cognitively normal elderly controls , 772 cognitive impairment subjects and 301 AD from the ADNI database. By using the disease cell lines or tissues, the interference and mutation of miR603 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. Moreover, the ncRNA variation-disease association was validated by complex experiments. 1.4 Primate-specific miR-603 is implicated in the risk and pathogenesis of Alzheimer's disease. NCRV0000002259 27328823 miR-1229 rs2291418 A N/a 17,008 ad cases and 37,154 controls EFO_0000249 N/A Increasing risk Alzheimer's disease rs2291418-A of miR-1229 and its dysfunction is significantly associated with the increasing risk of Alzheimer's disease by using case-control analysis in 17,008 AD cases and 37,154 controls. By using the disease cell lines or tissues, the mutation of miR-1229 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Genome-wide identification of microRNA-related variants associated with risk of Alzheimer's disease. NCRV0000000167 27328823 mir-564 rs2292181 C N/a 17,008 ad cases and 37,154 controls EFO_0000249 N/A Decreasing risk Alzheimer's disease rs2292181-C of mir-564 and its dysfunction is significantly associated with the decreasing risk of Alzheimer's disease by using case-control analysis in 17,008 AD cases and 37,154 controls. 0.4 Genome-wide identification of microRNA-related variants associated with risk of Alzheimer's disease. NCRV0000003088 27328823 mir-320e rs10423365 G N/a 17,008 ad cases and 37,154 controls EFO_0000249 N/A Decreasing risk Alzheimer's disease rs10423365-G of mir-320e and its dysfunction is significantly associated with the decreasing risk of Alzheimer's disease by using case-control analysis in 17,008 AD cases and 37,154 controls. 0.4 Genome-wide identification of microRNA-related variants associated with risk of Alzheimer's disease. NCRV0000000335 27328823 mir-5191 rs138079376 A N/a 17,008 ad cases and 37,154 controls EFO_0000249 N/A Increasing risk Alzheimer's disease rs138079376-A of mir-5191 and its dysfunction is significantly associated with the increasing risk of Alzheimer's disease by using case-control analysis in 17,008 AD cases and 37,154 controls. 0.4 Genome-wide identification of microRNA-related variants associated with risk of Alzheimer's disease. NCRV0000003573 27328823 mir-3615 rs745666 C N/a 17,008 ad cases and 37,154 controls EFO_0000249 N/A Decreasing risk Alzheimer's disease rs745666-C of mir-3615 and its dysfunction is significantly associated with the decreasing risk of Alzheimer's disease by using case-control analysis in 17,008 AD cases and 37,154 controls. 0.4 Genome-wide identification of microRNA-related variants associated with risk of Alzheimer's disease. NCRV0000000339 27328823 mir-4669 rs35196866 A N/a 17,008 ad cases and 37,154 controls EFO_0000249 N/A Increasing risk Alzheimer's disease rs35196866-A of mir-4669 and its dysfunction is significantly associated with the increasing risk of Alzheimer's disease by using case-control analysis in 17,008 AD cases and 37,154 controls. 0.4 Genome-wide identification of microRNA-related variants associated with risk of Alzheimer's disease. NCRV0000002835 27328823 mir-633 rs17759989 G N/a 17,008 ad cases and 37,154 controls EFO_0000249 N/A Increasing risk Alzheimer's disease rs17759989-G of mir-633 and its dysfunction is significantly associated with the increasing risk of Alzheimer's disease by using case-control analysis in 17,008 AD cases and 37,154 controls. 0.4 Genome-wide identification of microRNA-related variants associated with risk of Alzheimer's disease. NCRV0000001829 27328823 mir-3183 rs2663345 G N/a 17,008 ad cases and 37,154 controls EFO_0000249 N/A Decreasing risk Alzheimer's disease rs2663345-G of mir-3183 and its dysfunction is significantly associated with the decreasing risk of Alzheimer's disease by using case-control analysis in 17,008 AD cases and 37,154 controls. 0.4 Genome-wide identification of microRNA-related variants associated with risk of Alzheimer's disease. NCRV0000000192 27328823 mir-1269b rs12451747 C N/a 17,008 ad cases and 37,154 controls EFO_0000249 N/A Decreasing risk Alzheimer's disease rs12451747-C of mir-1269b and its dysfunction is significantly associated with the decreasing risk of Alzheimer's disease by using case-control analysis in 17,008 AD cases and 37,154 controls. 0.4 Genome-wide identification of microRNA-related variants associated with risk of Alzheimer's disease. NCRV0000002364 27328823 mir-647 rs73147065 C N/a 17,008 ad cases and 37,154 controls EFO_0000249 N/A Decreasing risk Alzheimer's disease rs73147065-C of mir-647 and its dysfunction is significantly associated with the decreasing risk of Alzheimer's disease by using case-control analysis in 17,008 AD cases and 37,154 controls. 0.4 Genome-wide identification of microRNA-related variants associated with risk of Alzheimer's disease. NCRV0000000309 27328823 mir-423 rs6505162 C N/a 17,008 ad cases and 37,154 controls EFO_0000249 N/A Increasing risk Alzheimer's disease rs6505162-C of mir-423 and its dysfunction is significantly associated with the increasing risk of Alzheimer's disease by using case-control analysis in 17,008 AD cases and 37,154 controls. 0.4 Genome-wide identification of microRNA-related variants associated with risk of Alzheimer's disease. NCRV0000000973 27328823 mir-6504 rs74469188 C N/a 17,008 ad cases and 37,154 controls EFO_0000249 N/A Increasing risk Alzheimer's disease rs74469188-C of mir-6504 and its dysfunction is significantly associated with the increasing risk of Alzheimer's disease by using case-control analysis in 17,008 AD cases and 37,154 controls. 0.4 Genome-wide identification of microRNA-related variants associated with risk of Alzheimer's disease. NCRV0000001255 27328823 mir-4752 rs4112253 C N/a 17,008 ad cases and 37,154 controls EFO_0000249 N/A Decreasing risk Alzheimer's disease rs4112253-C of mir-4752 and its dysfunction is significantly associated with the decreasing risk of Alzheimer's disease by using case-control analysis in 17,008 AD cases and 37,154 controls. 0.4 Genome-wide identification of microRNA-related variants associated with risk of Alzheimer's disease. NCRV0000002322 27328823 mir-3135b rs116814212 ? N/a 17,008 ad cases and 37,154 controls EFO_0000249 N/A Decreasing risk Alzheimer's disease rs116814212-? of mir-3135b and its dysfunction is significantly associated with the decreasing risk of Alzheimer's disease by using case-control analysis in 17,008 AD cases and 37,154 controls. 0.4 Genome-wide identification of microRNA-related variants associated with risk of Alzheimer's disease. NCRV0000000969 27328823 mir-4743 rs7235219 G N/a 17,008 ad cases and 37,154 controls EFO_0000249 N/A Decreasing risk Alzheimer's disease rs7235219-G of mir-4743 and its dysfunction is significantly associated with the decreasing risk of Alzheimer's disease by using case-control analysis in 17,008 AD cases and 37,154 controls. 0.4 Genome-wide identification of microRNA-related variants associated with risk of Alzheimer's disease. NCRV0000003782 27328823 mir-4751 rs8667 A N/a 17,008 ad cases and 37,154 controls EFO_0000249 N/A Decreasing risk Alzheimer's disease rs8667-A of mir-4751 and its dysfunction is significantly associated with the decreasing risk of Alzheimer's disease by using case-control analysis in 17,008 AD cases and 37,154 controls. 0.4 Genome-wide identification of microRNA-related variants associated with risk of Alzheimer's disease. NCRV0000000880 27328823 mir-4521 rs76800617 G N/a 17,008 ad cases and 37,154 controls EFO_0000249 N/A Increasing risk Alzheimer's disease rs76800617-G of mir-4521 and its dysfunction is significantly associated with the increasing risk of Alzheimer's disease by using case-control analysis in 17,008 AD cases and 37,154 controls. 0.4 Genome-wide identification of microRNA-related variants associated with risk of Alzheimer's disease. NCRV0000001175 27328823 mir-4519 rs897984 C N/a 17,008 ad cases and 37,154 controls EFO_0000249 N/A Decreasing risk Alzheimer's disease rs897984-C of mir-4519 and its dysfunction is significantly associated with the decreasing risk of Alzheimer's disease by using case-control analysis in 17,008 AD cases and 37,154 controls. 0.4 Genome-wide identification of microRNA-related variants associated with risk of Alzheimer's disease. NCRV0000002607 27328823 mir-149 rs2292832 C N/a 17,008 ad cases and 37,154 controls EFO_0000249 N/A Decreasing risk Alzheimer's disease rs2292832-C of mir-149 and its dysfunction is significantly associated with the decreasing risk of Alzheimer's disease by using case-control analysis in 17,008 AD cases and 37,154 controls. 0.4 Genome-wide identification of microRNA-related variants associated with risk of Alzheimer's disease. NCRV0000002486 27328823 mir-548h-4 rs73235381 T N/a 17,008 ad cases and 37,154 controls EFO_0000249 N/A Decreasing risk Alzheimer's disease rs73235381-T of mir-548h-4 and its dysfunction is significantly associated with the decreasing risk of Alzheimer's disease by using case-control analysis in 17,008 AD cases and 37,154 controls. 0.4 Genome-wide identification of microRNA-related variants associated with risk of Alzheimer's disease. NCRV0000000143 25019275 linc01080 rs7990916 C Dominant 106 sad patients, 67 amci patients, and 179 healthy controls in a han chinese population EFO_0001072 N/A No significance for risk Amnestic mild cognitive impairment rs7990916-C of linc01080 and its dysfunction is not significantly associated with amnestic mild cognitive impairment by using case-control analysis in 106 SAD patients, 67 aMCI patients, and 179 healthy controls in a Han Chinese population . 0.4 Lack of association of a genetic variant in the long intergenic noncoding RNA (linc01080) with Alzheimer's disease and amnestic mild cognitive impairment in Han Chinese. NCRV0000002044 23928854 miR-196a rs11614913 T N/a 209 acute anterior uveitis with ankylosing spondylitis patients and 1,685 controls all belonging to a chinese han population EFO_0003898 N/A No significance for risk Ankylosing spondylitis rs11614913-T of miR-196a and its dysfunction is not significantly associated with ankylosing spondylitis by using case-control analysis in 209 acute anterior uveitis with ankylosing spondylitis patients and 1,685 controls all belonging to a Chinese Han population. 0.4 A functional variant of pre-miRNA-196a2 confers risk for Behcet's disease but not for Vogt-Koyanagi-Harada syndrome or AAU in ankylosing spondylitis. NCRV0000001077 25836258 miR-146a rs2910164 G Dominant 102 subjects with as and 105 healthy controls EFO_0003898 N/A Increasing risk Ankylosing spondylitis rs2910164-G of miR-146a and its dysfunction is significantly associated with the increasing risk of ankylosing spondylitis by using case-control analysis in 102 subjects with AS and 105 healthy controls . 0.4 Association between ankylosing spondylitis and the miR-146a and miR-499 polymorphisms. NCRV0000003145 25836258 miR-499 rs3746444 C N/a 102 subjects with as and 105 healthy controls in a han chinese population EFO_0003898 N/A No significance for risk Ankylosing spondylitis rs3746444-C of miR-499 and its dysfunction is not significantly associated with ankylosing spondylitis by using case-control analysis in 102 subjects with AS and 105 healthy controls in a Han Chinese population. 0.4 Association between ankylosing spondylitis and the miR-146a and miR-499 polymorphisms. NCRV0000000314 25847876 miR-4717-5p rs150925 G Dominant 477 patients and 1096 controls EFO_0006788 N/A Increasing risk Anxiety-related traits rs150925-G of miR-4717-5p and its dysfunction is significantly associated with the increasing risk of anxiety-related traits by using case-control analysis in 477 patients and 1096 controls. 0.4 MicroRNA hsa-miR-4717-5p regulates RGS2 and may be a risk factor for anxiety-related traits. NCRV0000001498 25847876 miR-4717-5p rs161427 G Dominant 477 patients and 1096 controls EFO_0006788 N/A Increasing risk Anxiety-related traits rs161427-G of miR-4717-5p and its dysfunction is significantly associated with the increasing risk of anxiety-related traits by using case-control analysis in 477 patients and 1096 controls. 0.4 MicroRNA hsa-miR-4717-5p regulates RGS2 and may be a risk factor for anxiety-related traits. NCRV0000001483 28181414 miR-196a2 rs11614913 T N/a 124 patients with comorbid ar and asthma (ar-a) and 206 healthy chinese children as controls EFO_0000270 N/A No significance for risk Asthma rs11614913-T of miR-196a2 and its dysfunction is not significantly associated with asthma by using case-control analysis in 124 patients with comorbid AR and asthma (AR-A) and 206 healthy Chinese children as controls. 0.4 A functional variant of miRNA-149 confers risk for allergic rhinitis and comorbid asthma in Chinese children. NCRV0000000782 28181414 miR-149 rs2292832 C Recessive 124 patients with comorbid ar and asthma (ar-a) and 206 healthy chinese children as controls EFO_0000270 N/A Increasing risk Asthma rs2292832-C of miR-149 and its dysfunction is significantly associated with the increasing risk of asthma by using case-control analysis in 124 patients with comorbid AR and asthma (AR-A) and 206 healthy Chinese children as controls. By using the disease cell lines or tissues, the mutation of miR-149 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 A functional variant of miRNA-149 confers risk for allergic rhinitis and comorbid asthma in Chinese children. NCRV0000000940 28181414 miR-146a rs2910164 C N/a 124 patients with comorbid ar and asthma (ar-a) and 206 healthy chinese children as controls EFO_0000270 N/A No significance for risk Asthma rs2910164-C of miR-146a and its dysfunction is not significantly associated with asthma by using case-control analysis in 124 patients with comorbid AR and asthma (AR-A) and 206 healthy Chinese children as controls. 0.4 A functional variant of miRNA-149 confers risk for allergic rhinitis and comorbid asthma in Chinese children. NCRV0000002112 28181414 miR-499 rs3746444 G N/a 124 patients with comorbid ar and asthma (ar-a) and 206 healthy chinese children as controls EFO_0000270 N/A No significance for risk Asthma rs3746444-G of miR-499 and its dysfunction is not significantly associated with asthma by using case-control analysis in 124 patients with comorbid AR and asthma (AR-A) and 206 healthy Chinese children as controls. 0.4 A functional variant of miRNA-149 confers risk for allergic rhinitis and comorbid asthma in Chinese children. NCRV0000001299 28181414 miR-146a rs57095329 C N/a 124 patients with comorbid ar and asthma (ar-a) and 206 healthy chinese children as controls EFO_0000270 N/A No significance for risk Asthma rs57095329-C of miR-146a and its dysfunction is not significantly associated with asthma by using case-control analysis in 124 patients with comorbid AR and asthma (AR-A) and 206 healthy Chinese children as controls. 0.4 A functional variant of miRNA-149 confers risk for allergic rhinitis and comorbid asthma in Chinese children. NCRV0000000723 28181414 miR-146a rs6864584 C N/a 124 patients with comorbid ar and asthma (ar-a) and 206 healthy chinese children as controls EFO_0000270 N/A No significance for risk Asthma rs6864584-C of miR-146a and its dysfunction is not significantly associated with asthma by using case-control analysis in 124 patients with comorbid AR and asthma (AR-A) and 206 healthy Chinese children as controls. 0.4 A functional variant of miRNA-149 confers risk for allergic rhinitis and comorbid asthma in Chinese children. NCRV0000003852 28393844 LINC00305 rs2676671 ? Dominant 17 patients with atherosclerosis and 7 healthy controls EFO_0003914 N/A Increasing risk Atherosclerosis rs2676671-? of LINC00305 and its dysfunction is significantly associated with the increasing risk of atherosclerosis by using genome-wide association analysis in 17 patients with atherosclerosis and 7 healthy controls. By using the disease cell lines or tissues, the interference of LINC00305 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. Moreover, the ncRNA variation-disease association was validated by complex experiments. 1.4 Long noncoding RNA LINC00305 promotes inflammation by activating the AHRR-NF-kappaB pathway in human monocytes. NCRV0000003154 28393844 LINC00305 rs2850711 ? Dominant 17 patients with atherosclerosis and 7 healthy controls EFO_0003914 N/A Increasing risk Atherosclerosis rs2850711-? of LINC00305 and its dysfunction is significantly associated with the increasing risk of atherosclerosis by using genome-wide association analysis in 17 patients with atherosclerosis and 7 healthy controls. By using the disease cell lines or tissues, the interference of LINC00305 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. Moreover, the ncRNA variation-disease association was validated by complex experiments. 1.4 Long noncoding RNA LINC00305 promotes inflammation by activating the AHRR-NF-kappaB pathway in human monocytes. NCRV0000002019 29039586 miR-499a rs3746444 A Recessive 46 volunteers diagnosed with atherosclerosis EFO_0003914 N/A Increasing risk Atherosclerosis rs3746444-A of miR-499a and its dysfunction is significantly associated with the increasing risk of atherosclerosis by using analysis of sequence variation in 46 volunteers diagnosed with atherosclerosis. By using the disease cell lines or tissues, the mutation of miR-499a has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 A single nucleotide polymorphism located in microRNA-499a causes loss of function resulting in increased expression of osbpl1a and reduced serum HDL level. NCRV0000003460 29773352 ANRIL rs1004638 A N/a 200 atherothrombotic stroke cases and 205 controls EFO_1001976 N/A No significance for risk Atherothrombotic stroke rs1004638-A of ANRIL and its dysfunction is not significantly associated with atherothrombotic stroke by using case-control analysis in 200 atherothrombotic stroke cases and 205 controls. 0.4 The ANRIL Genetic Variants and Their Interactions with Environmental Risk Factors on Atherothrombotic Stroke in a Han Chinese Population. NCRV0000003915 29773352 ANRIL rs10116277 G N/a 200 atherothrombotic stroke cases and 205 controls EFO_1001976 N/A No significance for risk Atherothrombotic stroke rs10116277-G of ANRIL and its dysfunction is not significantly associated with atherothrombotic stroke by using case-control analysis in 200 atherothrombotic stroke cases and 205 controls. 0.4 The ANRIL Genetic Variants and Their Interactions with Environmental Risk Factors on Atherothrombotic Stroke in a Han Chinese Population. NCRV0000000611 29773352 ANRIL rs10738607 A N/a 200 atherothrombotic stroke cases and 205 controls EFO_1001976 N/A No significance for risk Atherothrombotic stroke rs10738607-A of ANRIL and its dysfunction is not significantly associated with atherothrombotic stroke by using case-control analysis in 200 atherothrombotic stroke cases and 205 controls. 0.4 The ANRIL Genetic Variants and Their Interactions with Environmental Risk Factors on Atherothrombotic Stroke in a Han Chinese Population. NCRV0000001139 29773352 ANRIL rs10738609 G N/a 200 atherothrombotic stroke cases and 205 controls EFO_1001976 N/A No significance for risk Atherothrombotic stroke rs10738609-G of ANRIL and its dysfunction is not significantly associated with atherothrombotic stroke by using case-control analysis in 200 atherothrombotic stroke cases and 205 controls. 0.4 The ANRIL Genetic Variants and Their Interactions with Environmental Risk Factors on Atherothrombotic Stroke in a Han Chinese Population. NCRV0000003142 29773352 ANRIL rs10757269 A N/a 200 atherothrombotic stroke cases and 205 controls EFO_1001976 N/A No significance for risk Atherothrombotic stroke rs10757269-A of ANRIL and its dysfunction is not significantly associated with atherothrombotic stroke by using case-control analysis in 200 atherothrombotic stroke cases and 205 controls. 0.4 The ANRIL Genetic Variants and Their Interactions with Environmental Risk Factors on Atherothrombotic Stroke in a Han Chinese Population. NCRV0000003746 29773352 ANRIL rs10757274 G N/a 200 atherothrombotic stroke cases and 205 controls EFO_1001976 N/A No significance for risk Atherothrombotic stroke rs10757274-G of ANRIL and its dysfunction is not significantly associated with atherothrombotic stroke by using case-control analysis in 200 atherothrombotic stroke cases and 205 controls. 0.4 The ANRIL Genetic Variants and Their Interactions with Environmental Risk Factors on Atherothrombotic Stroke in a Han Chinese Population. NCRV0000000831 29773352 ANRIL rs10757278 G N/a 200 atherothrombotic stroke cases and 205 controls EFO_1001976 N/A No significance for risk Atherothrombotic stroke rs10757278-G of ANRIL and its dysfunction is not significantly associated with atherothrombotic stroke by using case-control analysis in 200 atherothrombotic stroke cases and 205 controls. 0.4 The ANRIL Genetic Variants and Their Interactions with Environmental Risk Factors on Atherothrombotic Stroke in a Han Chinese Population. NCRV0000002908 29773352 ANRIL rs1333040 C N/a 200 atherothrombotic stroke cases and 205 controls EFO_1001976 N/A No significance for risk Atherothrombotic stroke rs1333040-C of ANRIL and its dysfunction is not significantly associated with atherothrombotic stroke by using case-control analysis in 200 atherothrombotic stroke cases and 205 controls. 0.4 The ANRIL Genetic Variants and Their Interactions with Environmental Risk Factors on Atherothrombotic Stroke in a Han Chinese Population. NCRV0000003474 29773352 ANRIL rs1333049 C N/a 200 atherothrombotic stroke cases and 205 controls EFO_1001976 N/A No significance for risk Atherothrombotic stroke rs1333049-C of ANRIL and its dysfunction is not significantly associated with atherothrombotic stroke by using case-control analysis in 200 atherothrombotic stroke cases and 205 controls. 0.4 The ANRIL Genetic Variants and Their Interactions with Environmental Risk Factors on Atherothrombotic Stroke in a Han Chinese Population. NCRV0000002020 29773352 ANRIL rs1537375 T N/a 200 atherothrombotic stroke cases and 205 controls EFO_1001976 N/A No significance for risk Atherothrombotic stroke rs1537375-T of ANRIL and its dysfunction is not significantly associated with atherothrombotic stroke by using case-control analysis in 200 atherothrombotic stroke cases and 205 controls. 0.4 The ANRIL Genetic Variants and Their Interactions with Environmental Risk Factors on Atherothrombotic Stroke in a Han Chinese Population. NCRV0000000893 29773352 ANRIL rs1537378 G Recessive 200 atherothrombotic stroke cases and 205 controls EFO_1001976 N/A Increasing risk Atherothrombotic stroke rs1537378-G of ANRIL and its dysfunction is significantly associated with the increasing risk of atherothrombotic stroke by using case-control analysis in 200 atherothrombotic stroke cases and 205 controls. 0.4 The ANRIL Genetic Variants and Their Interactions with Environmental Risk Factors on Atherothrombotic Stroke in a Han Chinese Population. NCRV0000000565 29773352 ANRIL rs2184061 A Recessive 200 atherothrombotic stroke cases and 205 controls EFO_1001976 N/A Increasing risk Atherothrombotic stroke rs2184061-A of ANRIL and its dysfunction is significantly associated with the increasing risk of atherothrombotic stroke by using case-control analysis in 200 atherothrombotic stroke cases and 205 controls. 0.4 The ANRIL Genetic Variants and Their Interactions with Environmental Risk Factors on Atherothrombotic Stroke in a Han Chinese Population. NCRV0000003789 29773352 ANRIL rs2383206 G N/a 200 atherothrombotic stroke cases and 205 controls EFO_1001976 N/A No significance for risk Atherothrombotic stroke rs2383206-G of ANRIL and its dysfunction is not significantly associated with atherothrombotic stroke by using case-control analysis in 200 atherothrombotic stroke cases and 205 controls. 0.4 The ANRIL Genetic Variants and Their Interactions with Environmental Risk Factors on Atherothrombotic Stroke in a Han Chinese Population. NCRV0000001969 29773352 ANRIL rs2383207 A N/a 200 atherothrombotic stroke cases and 205 controls EFO_1001976 N/A No significance for risk Atherothrombotic stroke rs2383207-A of ANRIL and its dysfunction is not significantly associated with atherothrombotic stroke by using case-control analysis in 200 atherothrombotic stroke cases and 205 controls. 0.4 The ANRIL Genetic Variants and Their Interactions with Environmental Risk Factors on Atherothrombotic Stroke in a Han Chinese Population. NCRV0000002352 29773352 ANRIL rs7044859 A Recessive 200 atherothrombotic stroke cases and 205 controls EFO_1001976 N/A Increasing risk Atherothrombotic stroke rs7044859-A of ANRIL and its dysfunction is significantly associated with the increasing risk of atherothrombotic stroke by using case-control analysis in 200 atherothrombotic stroke cases and 205 controls. 0.4 The ANRIL Genetic Variants and Their Interactions with Environmental Risk Factors on Atherothrombotic Stroke in a Han Chinese Population. NCRV0000001239 29773352 ANRIL rs7865618 A Recessive 200 atherothrombotic stroke cases and 205 controls EFO_1001976 N/A Increasing risk Atherothrombotic stroke rs7865618-A of ANRIL and its dysfunction is significantly associated with the increasing risk of atherothrombotic stroke by using case-control analysis in 200 atherothrombotic stroke cases and 205 controls. 0.4 The ANRIL Genetic Variants and Their Interactions with Environmental Risk Factors on Atherothrombotic Stroke in a Han Chinese Population. NCRV0000000361 26554236 pre-miR-196a2 rs11614913 C Dominant 123 participants, including 65 af patients were confirmed with electrocardiogram (ecg) or dynamic electrocardiography and 58 normal individuals EFO_0000275 N/A Increasing risk Atrial fibrillation rs11614913-C of pre-miR-196a2 and its dysfunction is significantly associated with the increasing risk of atrial fibrillation by using case-control analysis in 123 participants, including 65 AF patients were confirmed with electrocardiogram (ECG) or dynamic electrocardiography and 58 normal individuals. 0.4 A Functional Single-Nucleotide Polymorphism in Pre-microRNA-196a2 is Associated with Atrial Fibrillation in Han Chinese. NCRV0000003266 27576168 miR-34b/c rs28690953 G Dominant 754 adhd subjects and 766 controls EFO_0003888 N/A Increasing risk Attention deficit and hyperactivity disorder rs28690953-G of miR-34b/c and its dysfunction is significantly associated with the increasing risk of Attention deficit and hyperactivity disorder by using case-control analysis in 754 ADHD subjects and 766 controls . 0.4 Preliminary evidence for association of genetic variants in pri-miR-34b/c and abnormal miR-34c expression with attention deficit and hyperactivity disorder. NCRV0000002101 23906647 miR-96 rs2402959 ? N/a 695 adults with adhd (266 and 396 subjects with and without comorbid sud, respectively), 403 subjects with sud without life-time diagnosis of adhd and 485 sex-matched controls from spain EFO_0003888 N/A Increasing risk Attention deficit-hyperactivity disorder rs2402959-? of miR-96 and its dysfunction is significantly associated with the increasing risk of Attention deficit-hyperactivity disorder by using case-control analysis in 695 adults with ADHD (266 and 396 subjects with and without comorbid SUD, respectively), 403 subjects with SUD without life-time diagnosis of ADHD and 485 sex-matched controls from Spain. 0.4 Evaluation of single nucleotide polymorphisms in the miR-183-96-182 cluster in adulthood attention-deficit and hyperactivity disorder (ADHD) and substance use disorders (SUDs). NCRV0000003537 23906647 miR-96 rs2402960 ? N/a 695 adults with adhd (266 and 396 subjects with and without comorbid sud, respectively), 403 subjects with sud without life-time diagnosis of adhd and 485 sex-matched controls from spain EFO_0003888 N/A No significance for risk Attention deficit-hyperactivity disorder rs2402960-? of miR-96 and its dysfunction is not significantly associated with Attention deficit-hyperactivity disorder by using case-control analysis in 695 adults with ADHD (266 and 396 subjects with and without comorbid SUD, respectively), 403 subjects with SUD without life-time diagnosis of ADHD and 485 sex-matched controls from Spain. 0.4 Evaluation of single nucleotide polymorphisms in the miR-183-96-182 cluster in adulthood attention-deficit and hyperactivity disorder (ADHD) and substance use disorders (SUDs). NCRV0000000867 23906647 miR-96 rs2693727 ? N/a 695 adults with adhd (266 and 396 subjects with and without comorbid sud, respectively), 403 subjects with sud without life-time diagnosis of adhd and 485 sex-matched controls from spain EFO_0003888 N/A No significance for risk Attention deficit-hyperactivity disorder rs2693727-? of miR-96 and its dysfunction is not significantly associated with Attention deficit-hyperactivity disorder by using case-control analysis in 695 adults with ADHD (266 and 396 subjects with and without comorbid SUD, respectively), 403 subjects with SUD without life-time diagnosis of ADHD and 485 sex-matched controls from Spain. 0.4 Evaluation of single nucleotide polymorphisms in the miR-183-96-182 cluster in adulthood attention-deficit and hyperactivity disorder (ADHD) and substance use disorders (SUDs). NCRV0000002231 23906647 miR-96 rs4626538 ? N/a 695 adults with adhd (266 and 396 subjects with and without comorbid sud, respectively), 403 subjects with sud without life-time diagnosis of adhd and 485 sex-matched controls from spain EFO_0003888 N/A No significance for risk Attention deficit-hyperactivity disorder rs4626538-? of miR-96 and its dysfunction is not significantly associated with Attention deficit-hyperactivity disorder by using case-control analysis in 695 adults with ADHD (266 and 396 subjects with and without comorbid SUD, respectively), 403 subjects with SUD without life-time diagnosis of ADHD and 485 sex-matched controls from Spain. 0.4 Evaluation of single nucleotide polymorphisms in the miR-183-96-182 cluster in adulthood attention-deficit and hyperactivity disorder (ADHD) and substance use disorders (SUDs). NCRV0000001428 23906647 miR-96 rs6467264 ? N/a 695 adults with adhd (266 and 396 subjects with and without comorbid sud, respectively), 403 subjects with sud without life-time diagnosis of adhd and 485 sex-matched controls from spain EFO_0003888 N/A No significance for risk Attention deficit-hyperactivity disorder rs6467264-? of miR-96 and its dysfunction is not significantly associated with Attention deficit-hyperactivity disorder by using case-control analysis in 695 adults with ADHD (266 and 396 subjects with and without comorbid SUD, respectively), 403 subjects with SUD without life-time diagnosis of ADHD and 485 sex-matched controls from Spain. 0.4 Evaluation of single nucleotide polymorphisms in the miR-183-96-182 cluster in adulthood attention-deficit and hyperactivity disorder (ADHD) and substance use disorders (SUDs). NCRV0000000269 23906647 miR-96 rs6965643 ? N/a 695 adults with adhd (266 and 396 subjects with and without comorbid sud, respectively), 403 subjects with sud without life-time diagnosis of adhd and 485 sex-matched controls from spain EFO_0003888 N/A Increasing risk Attention deficit-hyperactivity disorder rs6965643-? of miR-96 and its dysfunction is significantly associated with the increasing risk of Attention deficit-hyperactivity disorder by using case-control analysis in 695 adults with ADHD (266 and 396 subjects with and without comorbid SUD, respectively), 403 subjects with SUD without life-time diagnosis of ADHD and 485 sex-matched controls from Spain. 0.4 Evaluation of single nucleotide polymorphisms in the miR-183-96-182 cluster in adulthood attention-deficit and hyperactivity disorder (ADHD) and substance use disorders (SUDs). NCRV0000003358 22491950 MSNP1AS rs4307059 T N/a Autism spectrum disorder EFO_0003756 N/A Increasing risk Autism spectrum disorder rs4307059-T of MSNP1AS and its dysfunction is significantly associated with the increasing risk of autism spectrum disorder by using genome-wide association analysis in autism spectrum disorder. By using the disease cell lines or tissues, the interference and mutation of MSNP1AS has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. Moreover, the ncRNA variation-disease association was validated by complex experiments. 1.4 A noncoding RNA antisense to moesin at 5p14.1 in autism. NCRV0000002737 24102488 hsa-mir-499 rs3746444 C Recessive Autoimmune diseases EFO_0005140 N/A Decreasing risk Autoimmune diseases rs3746444-C of hsa-mir-499 and its dysfunction is significantly associated with the decreasing risk of autoimmune diseases by using meta-analysis in autoimmune diseases. 0.4 Meta-analysis of pre-miRNA polymorphisms association with susceptibility to autoimmune diseases. NCRV0000003946 23928854 miR-196a rs11614913 T Dominant 859 behcet's disease and 1,685 controls all belonging to a chinese han population EFO_0003780 N/A Increasing risk Behcet's disease rs11614913-T of miR-196a and its dysfunction is significantly associated with the increasing risk of Behcet's disease by using case-control analysis in 859 Behcet's disease and 1,685 controls all belonging to a Chinese Han population. By using the disease cell lines or tissues, the interference and mutation of miR-196a has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. Moreover, the ncRNA variation-disease association was validated by complex experiments. 1.4 A functional variant of pre-miRNA-196a2 confers risk for Behcet's disease but not for Vogt-Koyanagi-Harada syndrome or AAU in ankylosing spondylitis. NCRV0000003450 28259691 HOTAIR rs12826786 T Dominant 143 iranian bph patients and 250 normal male controls EFO_0000284 N/A Increasing risk Benign prostate hyperplasia rs12826786-T of HOTAIR and its dysfunction is significantly associated with the increasing risk of benign prostate hyperplasia by using case-control analysis in 143 Iranian BPH patients and 250 normal male controls. 0.4 HOTAIR genetic variants are associated with prostate cancer and benign prostate hyperplasia in an Iranian population. NCRV0000002169 28259691 HOTAIR rs4759314 A N/a 143 iranian bph patients and 250 normal male controls EFO_0000284 N/A No significance for risk Benign prostate hyperplasia rs4759314-A of HOTAIR and its dysfunction is not significantly associated with benign prostate hyperplasia by using case-control analysis in 143 Iranian BPH patients and 250 normal male controls. 0.4 HOTAIR genetic variants are associated with prostate cancer and benign prostate hyperplasia in an Iranian population. NCRV0000000055 28259691 HOTAIR rs1899663 T Dominant 143 iranian bph patients and 250 normal male controls EFO_0000284 N/A Increasing risk Benign prostate hyperplasia rs1899663-T of HOTAIR and its dysfunction is significantly associated with the increasing risk of benign prostate hyperplasia by using case-control analysis in 143 Iranian BPH patients and 250 normal male controls. 0.4 HOTAIR genetic variants are associated with prostate cancer and benign prostate hyperplasia in an Iranian population. NCRV0000001925 28621612 ANRIL rs10757278 ? N/a 125 bph patients and 220 normal age-matched subjects EFO_0000284 N/A Increasing risk Benign prostate hyperplasia rs10757278-? of ANRIL and its dysfunction is significantly associated with the increasing risk of benign prostate hyperplasia by using case-control analysis in 125 BPH patients and 220 normal age-matched subjects . 0.4 Association of ANRIL gene polymorphisms with prostate cancer and benign prostatic hyperplasia in an Iranian population. NCRV0000000373 28621612 ANRIL rs1333048 ? N/a 125 bph patients and 220 normal age-matched subjects EFO_0000284 N/A Increasing risk Benign prostate hyperplasia rs1333048-? of ANRIL and its dysfunction is significantly associated with the increasing risk of benign prostate hyperplasia by using case-control analysis in 125 BPH patients and 220 normal age-matched subjects . 0.4 Association of ANRIL gene polymorphisms with prostate cancer and benign prostatic hyperplasia in an Iranian population. NCRV0000000464 28621612 ANRIL rs4977574 ? N/a 125 bph patients and 220 normal age-matched subjects EFO_0000284 N/A Increasing risk Benign prostate hyperplasia rs4977574-? of ANRIL and its dysfunction is significantly associated with the increasing risk of benign prostate hyperplasia by using case-control analysis in 125 BPH patients and 220 normal age-matched subjects . 0.4 Association of ANRIL gene polymorphisms with prostate cancer and benign prostatic hyperplasia in an Iranian population. NCRV0000001054 22850735 MIR137 rs1625579 T N/a Individuals at high genetic risk of bd (n=90), and healthy controls (n=81) EFO_0000289 N/A Increasing risk Bipolar disorder rs1625579-T of MIR137 and its dysfunction is significantly associated with the increasing risk of bipolar disorder by using case-control analysis in individuals at high genetic risk of BD (n=90), and healthy controls (n=81). By using the disease cell lines or tissues, the mutation of MIR137 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Impact of a microRNA MIR137 susceptibility variant on brain function in people at high genetic risk of schizophrenia or bipolar disorder. NCRV0000001890 24888363 MIR137 rs1198588 A N/a 345 bd patients, 426 sz patients and 1376 healthy individuals, all unrelated, in v?sterbotten region of northern sweden EFO_0000289 N/A Decreasing risk Bipolar disorder rs1198588-A of MIR137 and its dysfunction is significantly associated with the decreasing risk of bipolar disorder by using case-control analysis in 345 BD patients, 426 SZ patients and 1376 healthy individuals, all unrelated, in V?sterbotten region of Northern Sweden. 0.4 MIR137 variants identified in psychiatric patients affect synaptogenesis and neuronal transmission gene sets. NCRV0000000106 24888363 MIR137 rs1553269376 ? Dominant 345 bd patients, 426 sz patients and 1376 healthy individuals, all unrelated, in v?sterbotten region of northern sweden EFO_0000289 N/A Increasing risk Bipolar disorder rs1553269376-? of MIR137 and its dysfunction is significantly associated with the increasing risk of bipolar disorder by using case-control analysis in 345 BD patients, 426 SZ patients and 1376 healthy individuals, all unrelated, in V?sterbotten region of Northern Sweden. By using the disease cell lines or tissues, the interference and mutation of MIR137 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 MIR137 variants identified in psychiatric patients affect synaptogenesis and neuronal transmission gene sets. NCRV0000001054 24888363 MIR137 rs1625579 T N/a 345 bd patients, 426 sz patients and 1376 healthy individuals, all unrelated, in v?sterbotten region of northern sweden EFO_0000289 N/A No significance for risk Bipolar disorder rs1625579-T of MIR137 and its dysfunction is not significantly associated with bipolar disorder by using case-control analysis in 345 BD patients, 426 SZ patients and 1376 healthy individuals, all unrelated, in V?sterbotten region of Northern Sweden. 0.4 MIR137 variants identified in psychiatric patients affect synaptogenesis and neuronal transmission gene sets. NCRV0000001918 24888363 MIR137 rs185304769 T N/a 345 bd patients, 426 sz patients and 1376 healthy individuals, all unrelated, in v?sterbotten region of northern sweden EFO_0000289 N/A Increasing risk Bipolar disorder rs185304769-T of MIR137 and its dysfunction is significantly associated with the increasing risk of bipolar disorder by using case-control analysis in 345 BD patients, 426 SZ patients and 1376 healthy individuals, all unrelated, in V?sterbotten region of Northern Sweden. By using the disease cell lines or tissues, the interference and mutation of MIR137 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 MIR137 variants identified in psychiatric patients affect synaptogenesis and neuronal transmission gene sets. NCRV0000003268 24888363 MIR137 rs58335419 ? Dominant 345 bd patients, 426 sz patients and 1376 healthy individuals, all unrelated, in v?sterbotten region of northern sweden EFO_0000289 N/A Increasing risk Bipolar disorder rs58335419-? of MIR137 and its dysfunction is significantly associated with the increasing risk of bipolar disorder by using case-control analysis in 345 BD patients, 426 SZ patients and 1376 healthy individuals, all unrelated, in V?sterbotten region of Northern Sweden. By using the disease cell lines or tissues, the interference and mutation of MIR137 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 MIR137 variants identified in psychiatric patients affect synaptogenesis and neuronal transmission gene sets. NCRV0000001716 24888363 MIR137 rs66642155 ? Dominant 345 bd patients, 426 sz patients and 1376 healthy individuals, all unrelated, in v?sterbotten region of northern sweden EFO_0000289 N/A Increasing risk Bipolar disorder rs66642155-? of MIR137 and its dysfunction is significantly associated with the increasing risk of bipolar disorder by using case-control analysis in 345 BD patients, 426 SZ patients and 1376 healthy individuals, all unrelated, in V?sterbotten region of Northern Sweden. By using the disease cell lines or tissues, the interference and mutation of MIR137 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 MIR137 variants identified in psychiatric patients affect synaptogenesis and neuronal transmission gene sets. NCRV0000002497 24888363 MIR137 rs71738863 ? Dominant 345 bd patients, 426 sz patients and 1376 healthy individuals, all unrelated, in v?sterbotten region of northern sweden EFO_0000289 N/A Increasing risk Bipolar disorder rs71738863-? of MIR137 and its dysfunction is significantly associated with the increasing risk of bipolar disorder by using case-control analysis in 345 BD patients, 426 SZ patients and 1376 healthy individuals, all unrelated, in V?sterbotten region of Northern Sweden. By using the disease cell lines or tissues, the interference and mutation of MIR137 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 MIR137 variants identified in psychiatric patients affect synaptogenesis and neuronal transmission gene sets. NCRV0000002818 25434007 MIR137 rs543885789 T Dominant 2,610 sz cases and 2,611 controls of european ancestry EFO_0000289 N/A Increasing risk Bipolar disorder rs543885789-T of MIR137 and its dysfunction is significantly associated with the increasing risk of bipolar disorder by using case-control analysis in 2,610 SZ cases and 2,611 controls of European ancestry. By using the disease cell lines or tissues, the interference and mutation of MIR137 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 A rare functional noncoding variant at the GWAS-implicated MIR137/MIR2682 locus might confer risk to schizophrenia and bipolar disorder. NCRV0000002403 25434007 MIR2682 rs543885789 T Dominant 2,610 sz cases and 2,611 controls of european ancestry EFO_0000289 N/A Increasing risk Bipolar disorder rs543885789-T of MIR2682 and its dysfunction is significantly associated with the increasing risk of bipolar disorder by using case-control analysis in 2,610 SZ cases and 2,611 controls of European ancestry. By using the disease cell lines or tissues, the interference and mutation of MIR2682 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 A rare functional noncoding variant at the GWAS-implicated MIR137/MIR2682 locus might confer risk to schizophrenia and bipolar disorder. NCRV0000002870 27864917 miR-708 rs754333774 A Dominant 2078 subjects with bipolar disorder and 1355 healthy controls. EFO_0000289 N/A Increasing risk Bipolar disorder rs754333774-A of miR-708 and its dysfunction is significantly associated with the increasing risk of bipolar disorder by using case-control analysis in 2078 subjects with bipolar disorder and 1355 healthy controls 0.4 Genetic variation in the miR-708 gene and its binding targets in bipolar disorder. NCRV0000002456 27864917 miR-708 rs768049399 C N/a 2078 subjects with bipolar disorder and 1355 healthy controls. EFO_0000289 N/A No significance for risk Bipolar disorder rs768049399-C of miR-708 and its dysfunction is not significantly associated with bipolar disorder by using case-control analysis in 2078 subjects with bipolar disorder and 1355 healthy controls 0.4 Genetic variation in the miR-708 gene and its binding targets in bipolar disorder. NCRV0000001508 27864917 miR-708 rs56158925 T N/a 2078 subjects with bipolar disorder and 1355 healthy controls. EFO_0000289 N/A No significance for risk Bipolar disorder rs56158925-T of miR-708 and its dysfunction is not significantly associated with bipolar disorder by using case-control analysis in 2078 subjects with bipolar disorder and 1355 healthy controls 0.4 Genetic variation in the miR-708 gene and its binding targets in bipolar disorder. NCRV0000001553 21345130 mir-196a2 rs11614913 C N/a 212 histologically confirmed patients with urinary bladder cancer and 250 healthy controls EFO_0000292 N/A No significance for risk Bladder cancer rs11614913-C of mir-196a2 and its dysfunction is not significantly associated with bladder cancer by using case-control analysis in 212 histologically confirmed patients with urinary bladder cancer and 250 healthy controls. 0.4 Investigative role of pre-microRNAs in bladder cancer patients: a case-control study in North India. NCRV0000002188 21345130 mir-146a rs2910164 T N/a 212 histologically confirmed patients with urinary bladder cancer and 250 healthy controls EFO_0000292 N/A No significance for risk Bladder cancer rs2910164-T of mir-146a and its dysfunction is not significantly associated with bladder cancer by using case-control analysis in 212 histologically confirmed patients with urinary bladder cancer and 250 healthy controls. 0.4 Investigative role of pre-microRNAs in bladder cancer patients: a case-control study in North India. NCRV0000003847 21345130 mir-499 rs3746444 C N/a 212 histologically confirmed patients with urinary bladder cancer and 250 healthy controls EFO_0000292 N/A No significance for risk Bladder cancer rs3746444-C of mir-499 and its dysfunction is not significantly associated with bladder cancer by using case-control analysis in 212 histologically confirmed patients with urinary bladder cancer and 250 healthy controls. 0.4 Investigative role of pre-microRNAs in bladder cancer patients: a case-control study in North India. NCRV0000000935 24413317 miR-605 rs2043556 C N/a 16399 cases and 21779 controls from seven published studies in eight common cancers EFO_0000292 N/A Increasing risk Bladder cancer rs2043556 -C of miR-605 and its dysfunction is significantly associated with the increasing risk of bladder cancer by using meta-analysis in 16399 cases and 21779 controls from seven published studies in eight common cancers. 0.4 MicroRNA sequence polymorphisms and the risk of different types of cancer. NCRV0000002188 24413317 miR-146a rs2910164 C N/a 16399 cases and 21779 controls from seven published studies in eight common cancers EFO_0000292 N/A Increasing risk Bladder cancer rs2910164-C of miR-146a and its dysfunction is significantly associated with the increasing risk of bladder cancer by using meta-analysis in 16399 cases and 21779 controls from seven published studies in eight common cancers. 0.4 MicroRNA sequence polymorphisms and the risk of different types of cancer. NCRV0000001409 24413317 miR-423 rs6505162 C N/a 16399 cases and 21779 controls from seven published studies in eight common cancers EFO_0000292 N/A Increasing risk Bladder cancer rs6505162-C of miR-423 and its dysfunction is significantly associated with the increasing risk of bladder cancer by using meta-analysis in 16399 cases and 21779 controls from seven published studies in eight common cancers. 0.4 MicroRNA sequence polymorphisms and the risk of different types of cancer. NCRV0000002204 24413317 miR-27a rs895819 C N/a 16399 cases and 21779 controls from seven published studies in eight common cancers EFO_0000292 N/A Increasing risk Bladder cancer rs895819-C of miR-27a and its dysfunction is significantly associated with the increasing risk of bladder cancer by using meta-analysis in 16399 cases and 21779 controls from seven published studies in eight common cancers. 0.4 MicroRNA sequence polymorphisms and the risk of different types of cancer. NCRV0000003631 28627442 PCAT1 rs710886 G N/a 578 cases and 1006 controls for discovery; 1028 bladder cancer cases and 1381 normal controls for validation EFO_0000292 N/A Decreasing risk Bladder cancer rs710886-G of PCAT1 and its dysfunction is significantly associated with the decreasing risk of bladder cancer by using case-control analysis in 578 cases and 1006 controls for discovery; 1028 bladder cancer cases and 1381 normal controls for validation. 0.4 The association of rs710886 in lncRNA PCAT1 with bladder cancer risk in a Chinese population. NCRV0000002085 27421647 pre-miR27a rs895819 G Recessive 440 breast cancer cases and 807 controls EFO_0009443 N/A Decreasing risk Brca1/2-negative breast cancer rs895819-G of pre-miR27a and its dysfunction is significantly associated with the decreasing risk of BRCA1/2-negative breast cancer by using case-control analysis in 440 breast cancer cases and 807 controls. 0.4 Association of single nucleotide polymorphisms in Pre-miR-27a, Pre-miR-196a2, Pre-miR-423, miR-608 and Pre-miR-618 with breast cancer susceptibility in a South American population. NCRV0000000907 18634034 mir-196a2 rs11614913 C Recessive 1,009 breast cancer cases and 1,093 cancer-free controls EFO_0000305 N/A Increasing risk Breast cancer rs11614913-C of mir-196a2 and its dysfunction is significantly associated with the increasing risk of breast cancer by using case-control analysis in 1,009 breast cancer cases and 1,093 cancer-free controls. 0.4 Common genetic variants in pre-microRNAs were associated with increased risk of breast cancer in Chinese women. NCRV0000000674 18634034 mir-149 rs2292832 G N/a 1,009 breast cancer cases and 1,093 cancer-free controls EFO_0000305 N/A No significance for risk Breast cancer rs2292832-G of mir-149 and its dysfunction is not significantly associated with breast cancer by using case-control analysis in 1,009 breast cancer cases and 1,093 cancer-free controls. 0.4 Common genetic variants in pre-microRNAs were associated with increased risk of breast cancer in Chinese women. NCRV0000003014 18634034 mir-146a rs2910164 T N/a 1,009 breast cancer cases and 1,093 cancer-free controls EFO_0000305 N/A No significance for risk Breast cancer rs2910164-T of mir-146a and its dysfunction is not significantly associated with breast cancer by using case-control analysis in 1,009 breast cancer cases and 1,093 cancer-free controls. 0.4 Common genetic variants in pre-microRNAs were associated with increased risk of breast cancer in Chinese women. NCRV0000000817 18634034 mir-499 rs3746444 G Recessive 1,009 breast cancer cases and 1,093 cancer-free controls EFO_0000305 N/A Increasing risk Breast cancer rs3746444-G of mir-499 and its dysfunction is significantly associated with the increasing risk of breast cancer by using case-control analysis in 1,009 breast cancer cases and 1,093 cancer-free controls. 0.4 Common genetic variants in pre-microRNAs were associated with increased risk of breast cancer in Chinese women. NCRV0000000907 19567675 miR-196a-2 rs11614913 T Recessive 441 cases and 479 controls EFO_0000305 N/A Decreasing risk Breast cancer rs11614913-T of miR-196a-2 and its dysfunction is significantly associated with the decreasing risk of breast cancer by using case-control analysis in 441 cases and 479 controls. By using the disease cell lines or tissues, the interference and mutation of miR-196a-2 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. Moreover, the ncRNA variation-disease association was validated by complex experiments. 1.4 microRNA miR-196a-2 and breast cancer: a genetic and epigenetic association study and functional analysis. NCRV0000003500 19921425 pre-miRNA-27a rs895819 G Dominant 1,217 german familial breast cancer (bc) patients and 1,422 unrelated healthy german women EFO_0000305 N/A Decreasing risk Breast cancer rs895819-G of pre-miRNA-27a and its dysfunction is significantly associated with the decreasing risk of breast cancer by using case-control analysis in 1,217 German familial breast cancer (BC) patients and 1,422 unrelated healthy German women. 0.4 A genetic variant in the pre-miR-27a oncogene is associated with a reduced familial breast cancer risk. NCRV0000000907 20640596 miR-196a2 rs11614913 C Dominant 3,287 cases and 4,298 controls EFO_0000305 N/A Increasing risk Breast cancer rs11614913-C of miR-196a2 and its dysfunction is significantly associated with the increasing risk of breast cancer by using meta-analysis in 3,287 cases and 4,298 controls. 0.4 The association between two polymorphisms in pre-miRNAs and breast cancer risk: a meta-analysis. NCRV0000003014 20640596 miR-146a rs2910164 T N/a 3,287 cases and 4,298 controls EFO_0000305 N/A No significance for risk Breast cancer rs2910164-T of miR-146a and its dysfunction is not significantly associated with breast cancer by using meta-analysis in 3,287 cases and 4,298 controls. 0.4 The association between two polymorphisms in pre-miRNAs and breast cancer risk: a meta-analysis. NCRV0000000907 21962133 mir-196a-2 rs11614913 T N/a 193 females diagnosed with breast cancer and 190 controls EFO_0000305 N/A No significance for risk Breast cancer rs11614913-T of mir-196a-2 and its dysfunction is not significantly associated with breast cancer by using case-control analysis in 193 females diagnosed with breast cancer and 190 controls. 0.4 Single nucleotide polymorphism in hsa-mir-196a-2 and breast cancer risk: a case control study. NCRV0000001688 22593246 miRNA-423 rs6505162 C N/a 193 caucasian women with breast cancer, and an equal number of controls EFO_0000305 N/A Decreasing risk Breast cancer rs6505162-C of miRNA-423 and its dysfunction is significantly associated with the decreasing risk of breast cancer by using case-control analysis in 193 Caucasian women with breast cancer, and an equal number of controls. 0.4 A genetic variant located in miR-423 is associated with reduced breast cancer risk. NCRV0000002273 23526039 miR-185 rs2008591 TT Recessive 1,972 cases and 1,776 controls EFO_0000305 N/A Decreasing risk Breast cancer rs2008591-TT of miR-185 and its dysfunction is significantly associated with the decreasing risk of breast cancer by using case-control analysis in 1,972 cases and 1,776 controls. 0.4 Association of germline microRNA SNPs in pre-miRNA flanking region and breast cancer risk and survival: the Carolina Breast Cancer Study. NCRV0000001315 23526039 miR-34b/34c rs4938723 CC Recessive 1,972 cases and 1,776 controls EFO_0000305 N/A Better prognosis Breast cancer rs4938723-CC of miR-34b/34c and its dysfunction is significantly associated with the better prognosis of breast cancer by using case-control analysis in 1,972 cases and 1,776 controls. 0.4 Association of germline microRNA SNPs in pre-miRNA flanking region and breast cancer risk and survival: the Carolina Breast Cancer Study. NCRV0000001723 23526039 miR-206 rs6920648 G Dominant 1,972 cases and 1,776 controls EFO_0000305 N/A Better prognosis Breast cancer rs6920648-G of miR-206 and its dysfunction is significantly associated with the better prognosis of breast cancer by using case-control analysis in 1,972 cases and 1,776 controls. 0.4 Association of germline microRNA SNPs in pre-miRNA flanking region and breast cancer risk and survival: the Carolina Breast Cancer Study. NCRV0000000054 23526039 miR-185 rs887205 GG Recessive 1,972 cases and 1,776 controls EFO_0000305 N/A Decreasing risk Breast cancer rs887205-GG of miR-185 and its dysfunction is significantly associated with the decreasing risk of breast cancer by using case-control analysis in 1,972 cases and 1,776 controls. 0.4 Association of germline microRNA SNPs in pre-miRNA flanking region and breast cancer risk and survival: the Carolina Breast Cancer Study. NCRV0000003500 23954879 pre-mir-27a rs895819 G Dominant 264 females diagnosed with unilateral breast cancer in qilu hospital and 255 health subjects EFO_0000305 N/A Decreasing risk Breast cancer rs895819-G of pre-mir-27a and its dysfunction is significantly associated with the decreasing risk of breast cancer by using case-control analysis in 264 females diagnosed with unilateral breast cancer in Qilu Hospital and 255 health subjects. By using the disease cell lines or tissues, the mutation of pre-mir-27a has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 A genetic variant in pre-miR-27a is associated with a reduced breast cancer risk in younger Chinese population. NCRV0000001142 24475105 miR-101 rs1011210 G N/a 1064 breast cancer cases and 1073 cancer-free controls EFO_0000305 N/A No significance for risk Breast cancer rs1011210-G of miR-101 and its dysfunction is not significantly associated with breast cancer by using case-control analysis in 1064 breast cancer cases and 1073 cancer-free controls. 0.4 Genetic variations in the flanking regions of miR-101-2 are associated with increased risk of breast cancer. NCRV0000000295 24475105 miR-101 rs1053872 G Recessive 1064 breast cancer cases and 1073 cancer-free controls EFO_0000305 N/A Increasing risk Breast cancer rs1053872-G of miR-101 and its dysfunction is significantly associated with the increasing risk of breast cancer by using case-control analysis in 1064 breast cancer cases and 1073 cancer-free controls. 0.4 Genetic variations in the flanking regions of miR-101-2 are associated with increased risk of breast cancer. NCRV0000002263 24475105 miR-101 rs10974820 A N/a 1064 breast cancer cases and 1073 cancer-free controls EFO_0000305 N/A No significance for risk Breast cancer rs10974820-A of miR-101 and its dysfunction is not significantly associated with breast cancer by using case-control analysis in 1064 breast cancer cases and 1073 cancer-free controls. 0.4 Genetic variations in the flanking regions of miR-101-2 are associated with increased risk of breast cancer. NCRV0000003126 24475105 miR-101 rs1537146 G N/a 1064 breast cancer cases and 1073 cancer-free controls EFO_0000305 N/A No significance for risk Breast cancer rs1537146-G of miR-101 and its dysfunction is not significantly associated with breast cancer by using case-control analysis in 1064 breast cancer cases and 1073 cancer-free controls. 0.4 Genetic variations in the flanking regions of miR-101-2 are associated with increased risk of breast cancer. NCRV0000003844 24475105 miR-101 rs17718377 C N/a 1064 breast cancer cases and 1073 cancer-free controls EFO_0000305 N/A No significance for risk Breast cancer rs17718377-C of miR-101 and its dysfunction is not significantly associated with breast cancer by using case-control analysis in 1064 breast cancer cases and 1073 cancer-free controls. 0.4 Genetic variations in the flanking regions of miR-101-2 are associated with increased risk of breast cancer. NCRV0000001179 24475105 miR-101 rs462480 C Recessive 1064 breast cancer cases and 1073 cancer-free controls EFO_0000305 N/A Increasing risk Breast cancer rs462480-C of miR-101 and its dysfunction is significantly associated with the increasing risk of breast cancer by using case-control analysis in 1064 breast cancer cases and 1073 cancer-free controls. 0.4 Genetic variations in the flanking regions of miR-101-2 are associated with increased risk of breast cancer. NCRV0000001644 24475105 miR-101 rs4742051 G N/a 1064 breast cancer cases and 1073 cancer-free controls EFO_0000305 N/A No significance for risk Breast cancer rs4742051-G of miR-101 and its dysfunction is not significantly associated with breast cancer by using case-control analysis in 1064 breast cancer cases and 1073 cancer-free controls. 0.4 Genetic variations in the flanking regions of miR-101-2 are associated with increased risk of breast cancer. NCRV0000003893 24475105 miR-101 rs555146 A N/a 1064 breast cancer cases and 1073 cancer-free controls EFO_0000305 N/A No significance for risk Breast cancer rs555146-A of miR-101 and its dysfunction is not significantly associated with breast cancer by using case-control analysis in 1064 breast cancer cases and 1073 cancer-free controls. 0.4 Genetic variations in the flanking regions of miR-101-2 are associated with increased risk of breast cancer. NCRV0000000467 24475105 miR-101 rs578481 G N/a 1064 breast cancer cases and 1073 cancer-free controls EFO_0000305 N/A No significance for risk Breast cancer rs578481-G of miR-101 and its dysfunction is not significantly associated with breast cancer by using case-control analysis in 1064 breast cancer cases and 1073 cancer-free controls. 0.4 Genetic variations in the flanking regions of miR-101-2 are associated with increased risk of breast cancer. NCRV0000002739 24475105 miR-101 rs705509 A N/a 1064 breast cancer cases and 1073 cancer-free controls EFO_0000305 N/A No significance for risk Breast cancer rs705509-A of miR-101 and its dysfunction is not significantly associated with breast cancer by using case-control analysis in 1064 breast cancer cases and 1073 cancer-free controls. 0.4 Genetic variations in the flanking regions of miR-101-2 are associated with increased risk of breast cancer. NCRV0000003529 24475105 miR-101 rs7536540 C N/a 1064 breast cancer cases and 1073 cancer-free controls EFO_0000305 N/A No significance for risk Breast cancer rs7536540-C of miR-101 and its dysfunction is not significantly associated with breast cancer by using case-control analysis in 1064 breast cancer cases and 1073 cancer-free controls. 0.4 Genetic variations in the flanking regions of miR-101-2 are associated with increased risk of breast cancer. NCRV0000000907 24521023 miR-196a2 rs11614913 T N/a 236 patients with breast cancer and 203 healthy individuals. EFO_0000305 N/A No significance for risk Breast cancer rs11614913-T of miR-196a2 and its dysfunction is not significantly associated with breast cancer by using case-control analysis in 236 patients with breast cancer and 203 healthy individuals 0.4 hsa-mir-499 rs3746444 gene polymorphism is associated with susceptibility to breast cancer in an Iranian population. NCRV0000000193 24521023 miR-196a2 rs185070757 C N/a 236 patients with breast cancer and 203 healthy individuals. EFO_0000305 N/A No significance for risk Breast cancer rs185070757-C of miR-196a2 and its dysfunction is not significantly associated with breast cancer by using case-control analysis in 236 patients with breast cancer and 203 healthy individuals 0.4 hsa-mir-499 rs3746444 gene polymorphism is associated with susceptibility to breast cancer in an Iranian population. NCRV0000003014 24521023 miR-146a rs2910164 C N/a 236 patients with breast cancer and 203 healthy individuals. EFO_0000305 N/A No significance for risk Breast cancer rs2910164-C of miR-146a and its dysfunction is not significantly associated with breast cancer by using case-control analysis in 236 patients with breast cancer and 203 healthy individuals 0.4 hsa-mir-499 rs3746444 gene polymorphism is associated with susceptibility to breast cancer in an Iranian population. NCRV0000000817 24521023 miR-499 rs3746444 C Dominant 236 patients with breast cancer and 203 healthy individuals. EFO_0000305 N/A Increasing risk Breast cancer rs3746444-C of miR-499 and its dysfunction is significantly associated with the increasing risk of breast cancer by using case-control analysis in 236 patients with breast cancer and 203 healthy individuals 0.4 hsa-mir-499 rs3746444 gene polymorphism is associated with susceptibility to breast cancer in an Iranian population. NCRV0000000709 25169894 hsa-mir-202 rs12355840 T N/a 69 unrelated individuals from 14 global populations, including european, asian and african populations. EFO_0000305 N/A Increasing risk Breast cancer rs12355840-T of hsa-mir-202 and its dysfunction is significantly associated with the increasing risk of breast cancer by using case-control analysis in 69 unrelated individuals from 14 global populations, including European, Asian and African populations By using the disease cell lines or tissues, the interference of hsa-mir-202 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Global population-specific variation in miRNA associated with cancer risk and clinical biomarkers. NCRV0000003500 25556434 miR-27a rs895819 G N/a 7,813 cases and 9,602 controls EFO_0000305 N/A Decreasing risk Breast cancer rs895819-G of miR-27a and its dysfunction is significantly associated with the decreasing risk of breast cancer by using meta-analysis in 7,813 cases and 9,602 controls. 0.4 Association of a pre-miR-27a polymorphism with cancer risk: an updated meta-analysis. NCRV0000002238 25586347 HOTAIR rs920778 C Recessive 245 turkish women including 123 bc patients and 122 age-matched healthy controls EFO_0000305 N/A Increasing risk Breast cancer rs920778-C of HOTAIR and its dysfunction is significantly associated with the increasing risk of breast cancer by using case-control analysis in 245 Turkish women including 123 BC patients and 122 age-matched healthy controls . 0.4 Effect of HOTAIR rs920778 polymorphism on breast cancer susceptibility and clinicopathologic features in a Turkish population. NCRV0000001688 25663458 miR-423 rs6505162 A N/a 5 matched cell lines (breast cancer cell lines and their corresponding peripheral blood cell lines) and 114 matched clinical specimens (clinical breast carcinoma specimens and their corresponding normal tissues) EFO_0000305 N/A Increasing risk Breast cancer rs6505162-A of miR-423 and its dysfunction is significantly associated with the increasing risk of breast cancer by using case-control analysis in 5 matched cell lines (breast cancer cell lines and their corresponding peripheral blood cell lines) and 114 matched clinical specimens (clinical breast carcinoma specimens and their corresponding normal tissues). 0.4 Genetic analysis and preliminary function study of miR-423 in breast cancer. NCRV0000003706 26077004 let-7 rs61764370 G N/a 195 breast cancer samples EFO_0000305 N/A Increasing risk Breast cancer rs61764370-G of let-7 and its dysfunction is significantly associated with the increasing risk of breast cancer by using case-control analysis in 195 breast cancer samples. 0.4 Comparison of the prevalence of KRAS-LCS6 polymorphism (rs61764370) within different tumour types (colorectal, breast, non-small cell lung cancer and brain tumours). A study of the Czech population. NCRV0000000907 26125831 miR-196a2 rs11614913 C Dominant 321 breast cancer patients and 290 controls in the chinese population EFO_0000305 N/A Increasing risk Breast cancer rs11614913-C of miR-196a2 and its dysfunction is significantly associated with the increasing risk of breast cancer by using case-control analysis in 321 breast cancer patients and 290 controls in the Chinese population. 0.4 Associations of miRNA polymorphisms and expression levels with breast cancer risk in the Chinese population. NCRV0000003014 26125831 miR-146a rs2910164 C Recessive 321 breast cancer patients and 290 controls in the chinese population EFO_0000305 N/A Increasing risk Breast cancer rs2910164-C of miR-146a and its dysfunction is significantly associated with the increasing risk of breast cancer by using case-control analysis in 321 breast cancer patients and 290 controls in the Chinese population. 0.4 Associations of miRNA polymorphisms and expression levels with breast cancer risk in the Chinese population. NCRV0000000817 26125831 mir-499 rs3746444 G N/a 321 breast cancer patients and 290 controls in the chinese population EFO_0000305 N/A No significance for risk Breast cancer rs3746444-G of mir-499 and its dysfunction is not significantly associated with breast cancer by using case-control analysis in 321 breast cancer patients and 290 controls in the Chinese population. 0.4 Associations of miRNA polymorphisms and expression levels with breast cancer risk in the Chinese population. NCRV0000003500 26125831 miR-27a rs895819 G N/a 321 breast cancer patients and 290 controls in the chinese population EFO_0000305 N/A No significance for risk Breast cancer rs895819-G of miR-27a and its dysfunction is not significantly associated with breast cancer by using case-control analysis in 321 breast cancer patients and 290 controls in the Chinese population. 0.4 Associations of miRNA polymorphisms and expression levels with breast cancer risk in the Chinese population. NCRV0000003033 26210741 piRNA-021285 rs1326306 T N/a 441 breast cancer cases and 479 controls EFO_0000305 N/A Increasing risk Breast cancer rs1326306-T of piRNA-021285 and its dysfunction is significantly associated with the increasing risk of breast cancer by using meta-analysis in 441 breast cancer cases and 479 controls. By using the disease cell lines or tissues, the mutation of piRNA-021285 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 PIWI-interacting RNA 021285 is involved in breast tumorigenesis possibly by remodeling the cancer epigenome. NCRV0000002238 26547792 HOTAIR rs920778 T Dominant 502 breast cancer cases and 504 matched controls in china EFO_0000305 N/A Increasing risk Breast cancer rs920778-T of HOTAIR and its dysfunction is significantly associated with the increasing risk of breast cancer by using case-control analysis in 502 breast cancer cases and 504 matched controls in China. 0.4 Polymorphisms in lncRNA HOTAIR and susceptibility to breast cancer in a Chinese population. NCRV0000000240 26577090 MIR145 rs353291 G N/a Primary population: 173 cases and 187 controls and secondary population: 679 cases and 301 controls EFO_0000305 N/A Increasing risk Breast cancer rs353291-G of MIR145 and its dysfunction is significantly associated with the increasing risk of breast cancer by using case-control analysis in Primary population: 173 cases and 187 controls and secondary population: 679 cases and 301 controls. 0.4 Genetic association analysis of miRNA SNPs implicates MIR145 in breast cancer susceptibility. NCRV0000002698 26577852 HOTAIR rs12826786 T Recessive 123 breast cancer patients and 122 age-matched healthy controls EFO_0000305 N/A Increasing risk Breast cancer rs12826786-T of HOTAIR and its dysfunction is significantly associated with the increasing risk of breast cancer by using case-control analysis in 123 breast cancer patients and 122 age-matched healthy controls. 0.4 A functional HOTAIR rs12826786 C>T polymorphism is associated with breast cancer susceptibility and poor clinicopathological characteristics in a Turkish population: a hospital-based case-control study. NCRV0000002344 26681038 let-7 rs712 T N/a 228 patients with histologically confirmed breast cancer and 251 healthy controls EFO_0000305 N/A No significance for risk Breast cancer rs712-T of let-7 and its dysfunction is not significantly associated with Breast cancer by using case-control analysis in 228 patients with histologically confirmed Breast cancer and 251 healthy controls. 0.4 Association of a let-7 KRAS rs712 polymorphism with the risk of breast cancer. NCRV0000002344 26681038 let-7 rs712 T N/a 228 patients with histologically confirmed breast cancer and 251 healthy controls EFO_0000305 N/A Poor prognosis Breast cancer rs712-T of let-7 and its dysfunction is significantly associated with the poor prognosis of Breast cancer by using case-control analysis in 228 patients with histologically confirmed Breast cancer and 251 healthy controls. 0.4 Association of a let-7 KRAS rs712 polymorphism with the risk of breast cancer. NCRV0000000907 26710106 MIR 196A2 rs11614913 T N/a 114 paired samples (tumor and normal tissues) from breast cancer patients EFO_0000305 N/A Increasing risk Breast cancer rs11614913-T of MIR 196A2 and its dysfunction is significantly associated with the increasing risk of Breast Cancer by using case-control analysis in 114 paired samples (tumor and normal tissues) from breast cancer patients . 0.4 Somatic Mutation of the SNP rs11614913 and Its Association with Increased MIR 196A2 Expression in Breast Cancer. NCRV0000000907 26886638 miR-196a2 rs11614913 T Dominant 1143 subjects (controls = 583; breast cancer = 560) EFO_0000305 N/A Decreasing risk Breast cancer rs11614913-T of miR-196a2 and its dysfunction is significantly associated with the decreasing risk of breast cancer by using case-control analysis in 1143 subjects (controls = 583; breast cancer = 560). 0.4 The Associations of Single Nucleotide Polymorphisms in miR196a2, miR-499, and miR-608 With Breast Cancer Susceptibility: A STROBE-Compliant Observational Study. NCRV0000000817 26886638 miR-499 rs3746444 G Dominant 1143 subjects (controls = 583; breast cancer = 560) EFO_0000305 N/A Increasing risk Breast cancer rs3746444-G of miR-499 and its dysfunction is significantly associated with the increasing risk of breast cancer by using case-control analysis in 1143 subjects (controls = 583; breast cancer = 560). 0.4 The Associations of Single Nucleotide Polymorphisms in miR196a2, miR-499, and miR-608 With Breast Cancer Susceptibility: A STROBE-Compliant Observational Study. NCRV0000000225 26886638 miR-608 rs4919510 G N/a 1143 subjects (controls = 583; breast cancer = 560) EFO_0000305 N/A No significance for risk Breast cancer rs4919510-G of miR-608 and its dysfunction is not significantly associated with breast cancer by using case-control analysis in 1143 subjects (controls = 583; breast cancer = 560). 0.4 The Associations of Single Nucleotide Polymorphisms in miR196a2, miR-499, and miR-608 With Breast Cancer Susceptibility: A STROBE-Compliant Observational Study. NCRV0000000225 27031722 miR-608 rs4919510 G Dominant 160 women with breast cancer and 192 age-matched healthy women EFO_0000305 N/A Decreasing risk Breast cancer rs4919510-G of miR-608 and its dysfunction is significantly associated with the decreasing risk of breast cancer by using case-control analysis in 160 women with breast cancer and 192 age-matched healthy women. 0.4 miR-608 rs4919510 C>G polymorphism decreased the risk of breast cancer in an Iranian subpopulation. NCRV0000002872 27380242 miR-6826 rs116159732 T Dominant 1657 breast cancer cases and 2029 controls of african ancestry EFO_0000305 N/A Decreasing risk Breast cancer rs116159732-T of miR-6826 and its dysfunction is significantly associated with the decreasing risk of breast cancer by using case-control analysis in 1657 breast cancer cases and 2029 controls of African ancestry. 0.4 Genetic variants in microRNA and microRNA biogenesis pathway genes and breast cancer risk among women of African ancestry. NCRV0000000907 27421647 pre-miR-196a2 rs11614913 T N/a 440 breast cancer cases and 807 controls EFO_0000305 N/A No significance for risk Breast cancer rs11614913-T of pre-miR-196a2 and its dysfunction is not significantly associated with breast cancer by using case-control analysis in 440 breast cancer cases and 807 controls. 0.4 Association of single nucleotide polymorphisms in Pre-miR-27a, Pre-miR-196a2, Pre-miR-423, miR-608 and Pre-miR-618 with breast cancer susceptibility in a South American population. NCRV0000003349 27421647 pre-mir-618 rs2682818 A Dominant 440 breast cancer cases and 807 controls EFO_0000305 N/A Increasing risk Breast cancer rs2682818-A of pre-mir-618 and its dysfunction is significantly associated with the increasing risk of breast cancer by using case-control analysis in 440 breast cancer cases and 807 controls. 0.4 Association of single nucleotide polymorphisms in Pre-miR-27a, Pre-miR-196a2, Pre-miR-423, miR-608 and Pre-miR-618 with breast cancer susceptibility in a South American population. NCRV0000000225 27421647 miR-608 rs4919510 G N/a 440 breast cancer cases and 807 controls EFO_0000305 N/A No significance for risk Breast cancer rs4919510-G of miR-608 and its dysfunction is not significantly associated with breast cancer by using case-control analysis in 440 breast cancer cases and 807 controls. 0.4 Association of single nucleotide polymorphisms in Pre-miR-27a, Pre-miR-196a2, Pre-miR-423, miR-608 and Pre-miR-618 with breast cancer susceptibility in a South American population. NCRV0000001688 27421647 pre-miR-423 rs6505162 A Recessive 440 breast cancer cases and 807 controls EFO_0000305 N/A Increasing risk Breast cancer rs6505162-A of pre-miR-423 and its dysfunction is significantly associated with the increasing risk of breast cancer by using case-control analysis in 440 breast cancer cases and 807 controls. 0.4 Association of single nucleotide polymorphisms in Pre-miR-27a, Pre-miR-196a2, Pre-miR-423, miR-608 and Pre-miR-618 with breast cancer susceptibility in a South American population. NCRV0000001386 27651454 miR-125a rs12975333 T N/a Breast cancer EFO_0000305 N/A Increasing risk Breast cancer rs12975333-T of miR-125a and its dysfunction is significantly associated with the increasing risk of breast cancer by using analysis of sequence variation in breast cancer. By using the disease cell lines or tissues, the mutation of miR-125a has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. Moreover, the ncRNA variation-disease association was validated by complex experiments. 1.4 Structural dynamics control the MicroRNA maturation pathway. NCRV0000003293 27758888 MIR2052HG rs4476990 ? Dominant Only north american patients were offered participation in collection of blood specimens and 5221 of 6827 (76.5%) of the north american patients contributed blood EFO_0000305 anastrozole; exemestane Better prognosis Breast cancer rs4476990-? of MIR2052HG and its dysfunction is significantly associated with the better prognosis of Breast Cancer by using genome-wide association analysis in Only North American patients were offered participation in collection of blood specimens and 5221 of 6827 (76.5%) of the North American patients contributed blood. By using the disease cell lines or tissues, the interference and mutation of MIR2052HG has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. Moreover, the ncRNA variation-disease association was validated by complex experiments. 1.4 Genetic Polymorphisms in the Long Noncoding RNA MIR2052HG Offer a Pharmacogenomic Basis for the Response of Breast Cancer Patients to Aromatase Inhibitor Therapy. NCRV0000002208 27758888 MIR2052HG rs3802201 ? Dominant Only north american patients were offered participation in collection of blood specimens and 5221 of 6827 (76.5%) of the north american patients contributed blood EFO_0000305 anastrozole; exemestane Better prognosis Breast cancer rs3802201-? of MIR2052HG and its dysfunction is significantly associated with the better prognosis of Breast Cancer by using genome-wide association analysis in Only North American patients were offered participation in collection of blood specimens and 5221 of 6827 (76.5%) of the North American patients contributed blood. By using the disease cell lines or tissues, the interference and mutation of MIR2052HG has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. Moreover, the ncRNA variation-disease association was validated by complex experiments. 1.4 Genetic Polymorphisms in the Long Noncoding RNA MIR2052HG Offer a Pharmacogenomic Basis for the Response of Breast Cancer Patients to Aromatase Inhibitor Therapy. NCRV0000002246 28240100 SOX2OT rs9839776 T Dominant 505 newly diagnosed breast cancer patients and 601 age-matched controls (¡À2 years) in a chinese population EFO_0000305 N/A Increasing risk Breast cancer rs9839776-T of SOX2OT and its dysfunction is significantly associated with the increasing risk of breast cancer by using case-control analysis in 505 newly diagnosed breast cancer patients and 601 age-matched controls (¡À2 years) in a Chinese population. 0.4 Correlations between lncRNA-SOX2OT polymorphism and susceptibility to breast cancer in a Chinese population. NCRV0000001446 28691018 miR-10b rs10188827 G N/a 1,064 breast cancer cases and 1,073 cancer-free controls EFO_0000305 N/A No significance for risk Breast cancer rs10188827-G of miR-10b and its dysfunction is not significantly associated with breast cancer by using case-control analysis in 1,064 breast cancer cases and 1,073 cancer-free controls. 0.4 Genetic Variants in the Promoter Region of miR-10b and the Risk of Breast Cancer. NCRV0000000854 28691018 miR-10b rs10196832 G N/a 1,064 breast cancer cases and 1,073 cancer-free controls EFO_0000305 N/A No significance for risk Breast cancer rs10196832-G of miR-10b and its dysfunction is not significantly associated with breast cancer by using case-control analysis in 1,064 breast cancer cases and 1,073 cancer-free controls. 0.4 Genetic Variants in the Promoter Region of miR-10b and the Risk of Breast Cancer. NCRV0000001640 28691018 miR-10b rs1348807 G N/a 1,064 breast cancer cases and 1,073 cancer-free controls EFO_0000305 N/A No significance for risk Breast cancer rs1348807-G of miR-10b and its dysfunction is not significantly associated with breast cancer by using case-control analysis in 1,064 breast cancer cases and 1,073 cancer-free controls. 0.4 Genetic Variants in the Promoter Region of miR-10b and the Risk of Breast Cancer. NCRV0000001068 28691018 miR-10b rs1867863 C N/a 1,064 breast cancer cases and 1,073 cancer-free controls EFO_0000305 N/A No significance for risk Breast cancer rs1867863-C of miR-10b and its dysfunction is not significantly associated with breast cancer by using case-control analysis in 1,064 breast cancer cases and 1,073 cancer-free controls. 0.4 Genetic Variants in the Promoter Region of miR-10b and the Risk of Breast Cancer. NCRV0000001072 28691018 miR-10b rs4078756 G Dominant 1,064 breast cancer cases and 1,073 cancer-free controls EFO_0000305 N/A Increasing risk Breast cancer rs4078756-G of miR-10b and its dysfunction is significantly associated with the increasing risk of breast cancer by using case-control analysis in 1,064 breast cancer cases and 1,073 cancer-free controls. 0.4 Genetic Variants in the Promoter Region of miR-10b and the Risk of Breast Cancer. NCRV0000002720 28691018 miR-10b rs4972806 G N/a 1,064 breast cancer cases and 1,073 cancer-free controls EFO_0000305 N/A No significance for risk Breast cancer rs4972806-G of miR-10b and its dysfunction is not significantly associated with breast cancer by using case-control analysis in 1,064 breast cancer cases and 1,073 cancer-free controls. 0.4 Genetic Variants in the Promoter Region of miR-10b and the Risk of Breast Cancer. NCRV0000000631 28691018 miR-10b rs6736786 G N/a 1,064 breast cancer cases and 1,073 cancer-free controls EFO_0000305 N/A No significance for risk Breast cancer rs6736786-G of miR-10b and its dysfunction is not significantly associated with breast cancer by using case-control analysis in 1,064 breast cancer cases and 1,073 cancer-free controls. 0.4 Genetic Variants in the Promoter Region of miR-10b and the Risk of Breast Cancer. NCRV0000001286 29146194 MALAT1 rs3200401 T N/a 487 breast cancer? patients and 489 cancer-free controls in chinese han population EFO_0000305 N/A No significance for risk Breast cancer rs3200401-T of MALAT1 and its dysfunction is not significantly associated with breast cancer by using case-control analysis in 487 breast cancer? patients and 489 cancer-free controls in Chinese Han population. 0.4 Association analyses of genetic variants in long non-coding RNA MALAT1 with breast cancer susceptibility and mRNA expression of MALAT1 in Chinese Han population. NCRV0000001661 29146194 MALAT1 rs619586 G Dominant 487 breast cancer? patients and 489 cancer-free controls in chinese han population EFO_0000305 N/A Decreasing risk Breast cancer rs619586-G of MALAT1 and its dysfunction is significantly associated with the decreasing risk of breast cancer by using case-control analysis in 487 breast cancer? patients and 489 cancer-free controls in Chinese Han population. 0.4 Association analyses of genetic variants in long non-coding RNA MALAT1 with breast cancer susceptibility and mRNA expression of MALAT1 in Chinese Han population. NCRV0000000389 29146194 MALAT1 rs7927113 A N/a 487 breast cancer? patients and 489 cancer-free controls in chinese han population EFO_0000305 N/A No significance for risk Breast cancer rs7927113-A of MALAT1 and its dysfunction is not significantly associated with breast cancer by using case-control analysis in 487 breast cancer? patients and 489 cancer-free controls in Chinese Han population. 0.4 Association analyses of genetic variants in long non-coding RNA MALAT1 with breast cancer susceptibility and mRNA expression of MALAT1 in Chinese Han population. NCRV0000001722 29361751 miR-17-92 rs770419845 A Dominant 99 brca1/2 mutation-negative breast cancer cases with a strong family history EFO_0000305 N/A Increasing risk Breast cancer rs770419845-A of miR-17-92 and its dysfunction is significantly associated with the increasing risk of breast cancer by using Pedigree analysis in 99 BRCA1/2 mutation-negative breast cancer cases with a strong family history. 0.4 Identification of a Rare Germline Heterozygous Deletion Involving the Polycistronic miR-17-92 Cluster in Two First-Degree Relatives from a BRCA 1/2 Negative Chilean Family with Familial Breast Cancer: Possible Functional Implications.L NCRV0000003528 21591024 miRNA-146a rs2910164 C N/a 1,166 brca1 and 560 brca2 mutation carriers EFO_0009443 N/A No significance for risk Breast cancer risk in brca1 and brca2 mutation carriers rs2910164-C of miRNA-146a and its dysfunction is not significantly associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers by using Pedigree analysis in 1,166 BRCA1 and 560 BRCA2 mutation carriers. 0.4 The rs2910164:G>C SNP in the MIR146A gene is not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers. NCRV0000000907 22952151 miR-196a2 rs11614913 T Dominant 5 studies involving 26,018 subjects EFO_0000305 N/A Decreasing risk Breast carcinoma rs11614913-T of miR-196a2 and its dysfunction is significantly associated with the decreasing risk of breast carcinoma by using Pedigree analysis in 5 studies involving 26,018 subjects. 0.4 The association of miR-146a rs2910164 and miR-196a2 rs11614913 polymorphisms with cancer risk: a meta-analysis of 32 studies. NCRV0000003500 23266669 pre-mir-27a rs895819 G N/a 3,255 cases and 4,181 controls EFO_0000305 N/A Decreasing risk Breast carcinoma rs895819-G of pre-mir-27a and its dysfunction is significantly associated with the decreasing risk of breast carcinoma by using Pedigree analysis in 3,255 cases and 4,181 controls. 0.4 Pre-mir-27a rs895819 polymorphism and cancer risk: a meta-analysis. NCRV0000001483 27487239 miR-196a2 rs11614913 C Recessive 96 patients with bronchial asthma (6-18 years of age) and 96 unrelated controls, EFO_0000270 N/A Increased risk and poor prognosis Bronchial asthma rs11614913-C of miR-196a2 and its dysfunction is significantly associated with the increasing risk and poor prognosis of bronchial asthma by using Pedigree analysis in 96 patients with bronchial asthma (6-18 years of age) and 96 unrelated controls,. 0.4 A passenger strand variant in miR-196a2 contributes to asthma severity in children and adolescents: A preliminary study. NCRV0000002112 28886711 MIR-499 rs3746444 G Dominant 96 patients and 96 controls in the discovery phase, and 15 patients and 204 controls in the replication phase EFO_0000270 N/A Increased risk and poor prognosis Bronchial asthma rs3746444-G of MIR-499 and its dysfunction is significantly associated with the increasing risk and poor prognosis of bronchial asthma by using Pedigree analysis in 96 patients and 96 controls in the discovery phase, and 15 patients and 204 controls in the replication phase. By using the disease cell lines or tissues, the mutation of MIR-499 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Structure and functional impact of seed region variant in MIR-499 gene family in bronchial asthma. NCRV0000000940 27431205 miR-146a rs2910164 C Recessive 136 patients with basic pulmonary diseases and 425 health controls EFO_0000270 N/A Decreasing risk Bronchial hyperresponsiveness in response to intubation during general anesthesia rs2910164-C of miR-146a and its dysfunction is significantly associated with the decreasing risk of bronchial hyperresponsiveness in response to intubation during general anesthesia by using case-control analysis in 136 patients with basic pulmonary diseases and 425 health controls. By using the disease cell lines or tissues, the interference of miR-146a has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 A single nucleotide polymorphism in hsamiR146a is responsible for the development of bronchial hyperresponsiveness in response to intubation during general anesthesia. NCRV0000003473 21625865 miR-196a2 rs11614913 C Recessive 6,540 cases and 7,562 controls EFO_0000311 N/A Increasing risk Cancer rs11614913-C of miR-196a2 and its dysfunction is significantly associated with the increasing risk of cancer by using Pedigree analysis in 6,540 cases and 7,562 controls. 0.4 A genetic variant in microRNA-196a2 is associated with increased cancer risk: a meta-analysis. NCRV0000000138 23271127 miR-499 rs3746444 C N/a 4,794 cases and 5,971 controls EFO_0000311 N/A No significance for risk Cancer rs3746444-C of miR-499 and its dysfunction is not significantly associated with cancer by using Pedigree analysis in 4,794 cases and 5,971 controls. 0.4 The association between common genetic variant of microRNA-499 and cancer susceptibility: a meta-analysis. NCRV0000002317 24413317 miR-605 rs2043556 C N/a 16399 cases and 21779 controls from seven published studies in eight common cancers EFO_0000311 N/A Increasing risk Cancer rs2043556-C of miR-605 and its dysfunction is significantly associated with the increasing risk of cancer by using meta-analysis in 16399 cases and 21779 controls from seven published studies in eight common cancers. 0.4 MicroRNA sequence polymorphisms and the risk of different types of cancer. NCRV0000002857 24413317 miR-146a rs2910164 C N/a 16399 cases and 21779 controls from seven published studies in eight common cancers EFO_0000311 N/A Increasing risk Cancer rs2910164-C of miR-146a and its dysfunction is significantly associated with the increasing risk of cancer by using meta-analysis in 16399 cases and 21779 controls from seven published studies in eight common cancers. 0.4 MicroRNA sequence polymorphisms and the risk of different types of cancer. NCRV0000003594 24413317 miR-423 rs6505162 C N/a 16399 cases and 21779 controls from seven published studies in eight common cancers EFO_0000311 N/A Increasing risk Cancer rs6505162-C of miR-423 and its dysfunction is significantly associated with the increasing risk of cancer by using meta-analysis in 16399 cases and 21779 controls from seven published studies in eight common cancers. 0.4 MicroRNA sequence polymorphisms and the risk of different types of cancer. NCRV0000002795 24413317 miR-27a rs895819 C N/a 16399 cases and 21779 controls from seven published studies in eight common cancers EFO_0000311 N/A Increasing risk Cancer rs895819-C of miR-27a and its dysfunction is significantly associated with the increasing risk of cancer by using meta-analysis in 16399 cases and 21779 controls from seven published studies in eight common cancers. 0.4 MicroRNA sequence polymorphisms and the risk of different types of cancer. NCRV0000003473 24716941 miR-196a2 rs11614913 C N/a 524 subjects without cancer and 827 subjects with at least one type of cancer, such as gastric (n=160), lung (n=148), colorectal (n=116) or others. EFO_0000311 N/A No significance for risk Cancer rs11614913-C of miR-196a2 and its dysfunction is not significantly associated with cancer by using case-control analysis in 524 subjects without cancer and 827 subjects with at least one type of cancer, such as gastric (n=160), lung (n=148), colorectal (n=116) or others 0.4 Association analysis of single nucleotide polymorphisms in miR-146a and miR-196a2 on the prevalence of cancer in elderly Japanese: a case-control study. NCRV0000002857 24716941 miR-146a rs2910164 C N/a 524 subjects without cancer and 827 subjects with at least one type of cancer, such as gastric (n=160), lung (n=148), colorectal (n=116) or others. EFO_0000311 N/A No significance for risk Cancer rs2910164-C of miR-146a and its dysfunction is not significantly associated with cancer by using case-control analysis in 524 subjects without cancer and 827 subjects with at least one type of cancer, such as gastric (n=160), lung (n=148), colorectal (n=116) or others 0.4 Association analysis of single nucleotide polymorphisms in miR-146a and miR-196a2 on the prevalence of cancer in elderly Japanese: a case-control study. NCRV0000000443 25201061 miR-34b/c rs4938723 C Dominant 6,036 cancer patients and 7,490 controls EFO_0000311 N/A Increasing risk Cancer rs4938723-C of miR-34b/c and its dysfunction is significantly associated with the increasing risk of cancer by using meta-analysis in 6,036 cancer patients and 7,490 controls. 0.4 Pri-miR-34b/c rs4938723 TC heterozygote is associated with increased cancer risks: evidence from published data. NCRV0000000138 25433484 mir-499 rs3746444 C Dominant 12799 cases and 14507 controls EFO_0000311 N/A Increasing risk Cancer rs3746444-C of mir-499 and its dysfunction is significantly associated with the increasing risk of cancer by using meta-analysis in 12799 cases and 14507 controls. 0.4 Meta-analysis of Hsa-mir-499 polymorphism (rs3746444) for cancer risk: evidence from 31 case-control studies. NCRV0000000916 27010768 HOTAIR rs1899663 T N/a 7,151 cases and 8,740 controls EFO_0000311 N/A No significance for risk Cancer rs1899663-T of HOTAIR and its dysfunction is not significantly associated with cancer by using meta-analysis in 7,151 cases and 8,740 controls. 0.4 Quantitative Assessment of the Polymorphisms in the HOTAIR lncRNA and Cancer Risk: A Meta-Analysis of 8 Case-Control Studies. NCRV0000002039 27010768 HOTAIR rs4759314 G N/a 7,151 cases and 8,740 controls EFO_0000311 N/A No significance for risk Cancer rs4759314-G of HOTAIR and its dysfunction is not significantly associated with cancer by using meta-analysis in 7,151 cases and 8,740 controls. 0.4 Quantitative Assessment of the Polymorphisms in the HOTAIR lncRNA and Cancer Risk: A Meta-Analysis of 8 Case-Control Studies. NCRV0000003473 27397105 MIR196A2 rs11614913 T N/a Cancer cell lines EFO_0000311 N/A Decreasing risk Cancer rs11614913-T of MIR196A2 and its dysfunction is significantly associated with the decreasing risk of Cancer by using analysis of sequence variation in Cancer cell lines. By using the disease cell lines or tissues, the mutation of MIR196A2 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 MicroRNA Genetic Variation: From Population Analysis to Functional Implications of Three Allele Variants Associated with Cancer. NCRV0000002857 27397105 MIR146A rs2910164 G N/a Cancer cell lines EFO_0000311 N/A Decreasing risk Cancer rs2910164-G of MIR146A and its dysfunction is significantly associated with the decreasing risk of Cancer by using analysis of sequence variation in Cancer cell lines. By using the disease cell lines or tissues, the mutation of MIR146A has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 MicroRNA Genetic Variation: From Population Analysis to Functional Implications of Three Allele Variants Associated with Cancer. NCRV0000000138 27397105 MIR499 rs3746444 G N/a Cancer cell lines EFO_0000311 N/A Decreasing risk Cancer rs3746444-G of MIR499 and its dysfunction is significantly associated with the decreasing risk of Cancer by using analysis of sequence variation in Cancer cell lines. By using the disease cell lines or tissues, the mutation of MIR499 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 MicroRNA Genetic Variation: From Population Analysis to Functional Implications of Three Allele Variants Associated with Cancer. NCRV0000000916 27965458 HOTAIR rs1899663 T N/a 11 case-control studies EFO_0000311 N/A No significance for risk Cancer rs1899663-T of HOTAIR and its dysfunction is not significantly associated with cancer by using meta-analysis in 11 case-control studies. 0.4 Association between the HOTAIR polymorphisms and cancer risk: an updated meta-analysis. NCRV0000002039 27965458 HOTAIR rs4759314 G N/a 11 case-control studies EFO_0000311 N/A No significance for risk Cancer rs4759314-G of HOTAIR and its dysfunction is not significantly associated with cancer by using meta-analysis in 11 case-control studies. 0.4 Association between the HOTAIR polymorphisms and cancer risk: an updated meta-analysis. NCRV0000003037 27965458 HOTAIR rs7958904 C N/a 11 case-control studies EFO_0000311 N/A Decreasing risk Cancer rs7958904-C of HOTAIR and its dysfunction is significantly associated with the decreasing risk of cancer by using meta-analysis in 11 case-control studies. 0.4 Association between the HOTAIR polymorphisms and cancer risk: an updated meta-analysis. NCRV0000001833 27965458 HOTAIR rs874945 A N/a 11 case-control studies EFO_0000311 N/A Increasing risk Cancer rs874945-A of HOTAIR and its dysfunction is significantly associated with the increasing risk of cancer by using meta-analysis in 11 case-control studies. 0.4 Association between the HOTAIR polymorphisms and cancer risk: an updated meta-analysis. NCRV0000000480 27965458 HOTAIR rs920778 T N/a 11 case-control studies EFO_0000311 N/A Increasing risk Cancer rs920778-T of HOTAIR and its dysfunction is significantly associated with the increasing risk of cancer by using meta-analysis in 11 case-control studies. 0.4 Association between the HOTAIR polymorphisms and cancer risk: an updated meta-analysis. NCRV0000003019 28159929 PRNCR1 rs1016343 T Dominant Several case-control studies EFO_0000311 N/A Increasing risk Cancer rs1016343-T of PRNCR1 and its dysfunction is significantly associated with the increasing risk of cancer by using meta-analysis in several case-control studies. 0.4 The HOTAIR, PRNCR1 and POLR2E polymorphisms are associated with cancer risk: a meta-analysis. NCRV0000000772 28159929 PRNCR1 rs13252298 G Dominant Several case-control studies EFO_0000311 N/A Decreasing risk Cancer rs13252298-G of PRNCR1 and its dysfunction is significantly associated with the decreasing risk of cancer by using meta-analysis in several case-control studies. 0.4 The HOTAIR, PRNCR1 and POLR2E polymorphisms are associated with cancer risk: a meta-analysis. NCRV0000001042 28159929 PRNCR1 rs1456315 G Dominant Several case-control studies EFO_0000311 N/A Decreasing risk Cancer rs1456315-G of PRNCR1 and its dysfunction is significantly associated with the decreasing risk of cancer by using meta-analysis in several case-control studies. 0.4 The HOTAIR, PRNCR1 and POLR2E polymorphisms are associated with cancer risk: a meta-analysis. NCRV0000000002 28159929 PRNCR1 rs16901946 G Recessive Several case-control studies EFO_0000311 N/A No significance for risk Cancer rs16901946-G of PRNCR1 and its dysfunction is not significantly associated with cancer by using meta-analysis in several case-control studies. 0.4 The HOTAIR, PRNCR1 and POLR2E polymorphisms are associated with cancer risk: a meta-analysis. NCRV0000000916 28159929 HOTAIR rs1899663 T N/a Several case-control studies EFO_0000311 N/A No significance for risk Cancer rs1899663-T of HOTAIR and its dysfunction is not significantly associated with cancer by using meta-analysis in several case-control studies. 0.4 The HOTAIR, PRNCR1 and POLR2E polymorphisms are associated with cancer risk: a meta-analysis. NCRV0000001557 28159929 H19 rs2107425 T N/a Several case-control studies EFO_0000311 N/A No significance for risk Cancer rs2107425-T of H19 and its dysfunction is not significantly associated with cancer by using meta-analysis in several case-control studies. 0.4 The HOTAIR, PRNCR1 and POLR2E polymorphisms are associated with cancer risk: a meta-analysis. NCRV0000001388 28159929 POLR2E rs3787016 T Dominant Several case-control studies EFO_0000311 N/A Decreasing risk Cancer rs3787016-T of POLR2E and its dysfunction is significantly associated with the decreasing risk of cancer by using meta-analysis in several case-control studies. 0.4 The HOTAIR, PRNCR1 and POLR2E polymorphisms are associated with cancer risk: a meta-analysis. NCRV0000002039 28159929 HOTAIR rs4759314 G N/a Several case-control studies EFO_0000311 N/A Increasing risk Cancer rs4759314-G of HOTAIR and its dysfunction is significantly associated with the increasing risk of cancer by using meta-analysis in several case-control studies. 0.4 The HOTAIR, PRNCR1 and POLR2E polymorphisms are associated with cancer risk: a meta-analysis. NCRV0000000638 28159929 PRNCR1 rs7007694 C Dominant Several case-control studies EFO_0000311 N/A Decreasing risk Cancer rs7007694-C of PRNCR1 and its dysfunction is significantly associated with the decreasing risk of cancer by using meta-analysis in several case-control studies. 0.4 The HOTAIR, PRNCR1 and POLR2E polymorphisms are associated with cancer risk: a meta-analysis. NCRV0000000480 28159929 HOTAIR rs920778 T Recessive Several case-control studies EFO_0000311 N/A Increasing risk Cancer rs920778-T of HOTAIR and its dysfunction is significantly associated with the increasing risk of cancer by using meta-analysis in several case-control studies. 0.4 The HOTAIR, PRNCR1 and POLR2E polymorphisms are associated with cancer risk: a meta-analysis. NCRV0000001557 28404885 H19 rs2107425 T N/a 33,209 participants EFO_0000311 N/A Decreasing risk Cancer rs2107425-T of H19 and its dysfunction is significantly associated with the decreasing risk of cancer by using meta-analysis in 33,209 participants. 0.4 Significant association between lncRNA H19 polymorphisms and cancer susceptibility: a meta-analysis. NCRV0000000326 28404885 H19 rs217727 A N/a 33,209 participants EFO_0000311 N/A No significance for risk Cancer rs217727-A of H19 and its dysfunction is not significantly associated with cancer by using meta-analysis in 33,209 participants. 0.4 Significant association between lncRNA H19 polymorphisms and cancer susceptibility: a meta-analysis. NCRV0000002795 25556434 miR-27a rs895819 G Dominant 7,813 cases and 9,602 controls EFO_0000311 N/A Decreasing risk Cancer in caucasians rs895819-G of miR-27a and its dysfunction is significantly associated with the decreasing risk of cancer in Caucasians by using meta-analysis in 7,813 cases and 9,602 controls. 0.4 Association of a pre-miR-27a polymorphism with cancer risk: an updated meta-analysis. NCRV0000000138 22903035 miR-499 rs3746444 C N/a 10,584 cases and 12,414 controls EFO_0000311 N/A No significance for risk Cancers and other diseases rs3746444-C of miR-499 and its dysfunction is not significantly associated with cancers and other diseases by using meta-analysis in 10,584 cases and 12,414 controls. 0.4 The association between hsa-miR-499 T>C polymorphism and cancer risk: a meta-analysis. NCRV0000003396 25865299 miR-146a rs2910164 C Recessive 5433 ccd cases and 6278 controls EFO_0003763 N/A Decreasing risk Cardio-cerebrovascular diseases rs2910164-C of miR-146a and its dysfunction is significantly associated with the decreasing risk of cardio-cerebrovascular diseases by using meta-analysis in 5433 CCD cases and 6278 controls. 0.4 Association of miR-146a rs2910164 polymorphism with cardio-cerebrovascular diseases: A systematic review and meta-analysis. NCRV0000000965 24682535 MIR-146a rs2910164 C N/a 132 type 2 diabetes patients (t2d) analysed for diabetic polyneuropathy (dpn) and 128 t2d patients analysed for cardiovascular autonomic neuropathy (can) Orphanet_140471 N/A Decreasing risk Cardiovascular autonomic neuropathy rs2910164 -C of MIR-146a and its dysfunction is significantly associated with the decreasing risk of cardiovascular autonomic neuropathy by using case-control analysis in 132 type 2 diabetes patients (T2D) analysed for Diabetic polyneuropathy (DPN) and 128 T2D patients analysed for cardiovascular autonomic neuropathy (CAN). 0.4 Common polymorphisms in MIR146a, MIR128a and MIR27a genes contribute to neuropathy susceptibility in type 2 diabetes. NCRV0000002869 24682535 MIR-27a rs895819 G N/a 132 type 2 diabetes patients (t2d) analysed for diabetic polyneuropathy (dpn) and 128 t2d patients analysed for cardiovascular autonomic neuropathy (can) Orphanet_140471 N/A Increasing risk Cardiovascular autonomic neuropathy rs895819 -G of MIR-27a and its dysfunction is significantly associated with the increasing risk of cardiovascular autonomic neuropathy by using case-control analysis in 132 type 2 diabetes patients (T2D) analysed for Diabetic polyneuropathy (DPN) and 128 T2D patients analysed for cardiovascular autonomic neuropathy (CAN). 0.4 Common polymorphisms in MIR146a, MIR128a and MIR27a genes contribute to neuropathy susceptibility in type 2 diabetes. NCRV0000002069 24972764 miRNA-196a2 rs11614913 T N/a 920 patients with diabetes and 834 healthy controls EFO_0000319 N/A Increasing risk Cardiovascular disease in type 2 diabetes patients rs11614913-T of miRNA-196a2 and its dysfunction is significantly associated with the increasing risk of cardiovascular disease in type 2 diabetes patients by using case-control analysis in 920 patients with diabetes and 834 healthy controls. 0.4 Polymorphism in microRNA-196a2 contributes to the risk of cardiovascular disease in type 2 diabetes patients. NCRV0000001657 27034373 lnc13 rs917997 T Dominant 23 pairs tissue EFO_0001060 N/A Decreasing risk Celiac disease rs917997-T of lnc13 and its dysfunction is significantly associated with the decreasing risk of celiac disease by using genome-wide association analysis in 23 pairs tissue. By using the disease cell lines or tissues, the interference and mutation of lnc13 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. Moreover, the ncRNA variation-disease association was validated by complex experiments. 1.4 A long noncoding RNA associated with susceptibility to celiac disease. NCRV0000003221 27701053 MiRNA-196a2 rs11614913 T N/a 180 aids-nhl cases and 529 hiv-infected matched controls EFO_1000077 N/A Decreasing risk Central nervous system (cns) aids-nhl rs11614913-T of MiRNA-196a2 and its dysfunction is significantly associated with the decreasing risk of central nervous system (CNS) AIDS-NHL by using case-control analysis in 180 AIDS-NHL cases and 529 HIV-infected matched controls. 0.4 MicroRNA-related polymorphisms and non-Hodgkin lymphoma susceptibility in the Multicenter AIDS Cohort Study. NCRV0000001914 20163849 miR-218 rs11134527 G Recessive 703 cervical cancer cases and 713 cancer-free controls in chinese women EFO_0001061 N/A Decreasing risk Cervical cancer rs11134527-G of miR-218 and its dysfunction is significantly associated with the decreasing risk of cervical cancer by using case-control analysis in 703 cervical cancer cases and 713 cancer-free controls in Chinese women. 0.4 Polymorphisms involved in the miR-218-LAMB3 pathway and susceptibility of cervical cancer, a case-control study in Chinese women. NCRV0000003211 22952151 miR-146a rs2910164 G N/a 2 studies involving 20660 subjects EFO_0001061 N/A Increasing risk Cervical cancer rs2910164-G of miR-146a and its dysfunction is significantly associated with the increasing risk of Cervical cancer by using meta-analysis in 2 studies involving 20660 subjects. 0.4 The association of miR-146a rs2910164 and miR-196a2 rs11614913 polymorphisms with cancer risk: a meta-analysis of 32 studies. NCRV0000003898 24380734 miR-100 rs1834306 T N/a 103 cervical cancer cases and 417 cancer-free female subjects EFO_0001061 N/A No significance for risk Cervical cancer rs1834306-T of miR-100 and its dysfunction is not significantly associated with cervical cancer by using case-control analysis in 103 cervical cancer cases and 417 cancer-free female subjects. 0.4 A genetic variant in pre-miR-27a is associated with a reduced cervical cancer risk in southern Chinese women. NCRV0000002357 24380734 miR-26a-1 rs7372209 T N/a 103 cervical cancer cases and 417 cancer-free female subjects EFO_0001061 N/A No significance for risk Cervical cancer rs7372209-T of miR-26a-1 and its dysfunction is not significantly associated with cervical cancer by using case-control analysis in 103 cervical cancer cases and 417 cancer-free female subjects. 0.4 A genetic variant in pre-miR-27a is associated with a reduced cervical cancer risk in southern Chinese women. NCRV0000000930 24380734 miR-27a rs895819 T Dominant 103 cervical cancer cases and 417 cancer-free female subjects EFO_0001061 N/A Decreasing risk Cervical cancer rs895819-T of miR-27a and its dysfunction is significantly associated with the decreasing risk of cervical cancer by using case-control analysis in 103 cervical cancer cases and 417 cancer-free female subjects. 0.4 A genetic variant in pre-miR-27a is associated with a reduced cervical cancer risk in southern Chinese women. NCRV0000003363 27225188 PAX8-AS1 rs1110839 G N/a 1486 cervical cancer patients and 1536 cancer-free controls EFO_0001061 N/A Decreasing risk Cervical cancer rs1110839-G of PAX8-AS1 and its dysfunction is significantly associated with the decreasing risk of cervical cancer by using case-control analysis in 1486 cervical cancer patients and 1536 cancer-free controls. 0.4 Expression quantitative trait loci in long non-coding RNA PAX8-AS1 are associated with decreased risk of cervical cancer. NCRV0000001047 27225188 PAX8-AS1 rs4848320 T Recessive 1486 cervical cancer patients and 1536 cancer-free controls EFO_0001061 N/A Decreasing risk Cervical cancer rs4848320-T of PAX8-AS1 and its dysfunction is significantly associated with the decreasing risk of cervical cancer by using case-control analysis in 1486 cervical cancer patients and 1536 cancer-free controls. 0.4 Expression quantitative trait loci in long non-coding RNA PAX8-AS1 are associated with decreased risk of cervical cancer. NCRV0000002754 27467165 HOTAIR rs1899663 T N/a 510 cervical cancer patients (cases) and 713 cancer-free individuals (controls) in a chinese population EFO_0001061 N/A No significance for risk Cervical cancer rs1899663-T of HOTAIR and its dysfunction is not significantly associated with cervical cancer by using case-control analysis in 510 cervical cancer patients (cases) and 713 cancer-free individuals (controls) in a Chinese Population. 0.4 Association of Long Non-Coding RNA HOTAIR Polymorphisms with Cervical Cancer Risk in a Chinese Population. NCRV0000003047 27467165 HOTAIR rs4759314 G N/a 510 cervical cancer patients (cases) and 713 cancer-free individuals (controls) in a chinese population EFO_0001061 N/A No significance for risk Cervical cancer rs4759314-G of HOTAIR and its dysfunction is not significantly associated with cervical cancer by using case-control analysis in 510 cervical cancer patients (cases) and 713 cancer-free individuals (controls) in a Chinese Population. 0.4 Association of Long Non-Coding RNA HOTAIR Polymorphisms with Cervical Cancer Risk in a Chinese Population. NCRV0000001088 27467165 HOTAIR rs920778 T Dominant 510 cervical cancer patients (cases) and 713 cancer-free individuals (controls) in a chinese population EFO_0001061 N/A Poor prognosis Cervical cancer rs920778-T of HOTAIR and its dysfunction is significantly associated with the poor prognosis of cervical cancer by using case-control analysis in 510 cervical cancer patients (cases) and 713 cancer-free individuals (controls) in a Chinese Population. By using the disease cell lines or tissues, the mutation of HOTAIR has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Association of Long Non-Coding RNA HOTAIR Polymorphisms with Cervical Cancer Risk in a Chinese Population. NCRV0000001264 27717891 miR-155 rs767649 T Recessive 1157 cervical cancer cases and 1280 controls EFO_0001061 N/A Decreasing risk Cervical cancer rs767649-T of miR-155 and its dysfunction is significantly associated with the decreasing risk of cervical cancer by using case-control analysis in 1157 cervical cancer cases and 1280 controls. 0.4 The rs767649 polymorphism in the promoter of miR-155 contributes to the decreased risk for cervical cancer in a Chinese population. NCRV0000001914 23320911 miRNA-218 rs11134527 GG Recessive 1,584 cervical cancer cases and 1,394 cancer-free female controls EFO_0001061 N/A Decreasing risk Cervical carcinoma rs11134527 -GG of miRNA-218 and its dysfunction is significantly associated with the decreasing risk of cervical carcinoma by using case-control analysis in 1,584 cervical cancer cases and 1,394 cancer-free female controls. 0.4 A pri-miR-218 variant and risk of cervical carcinoma in Chinese women. NCRV0000001030 28356144 miR-30d hsa-mir-30d Amplification - Dominant 136 cases of cervical squamous cell carcinoma tissues and matched adjacent normal ovarian epithelial tissues EFO_1000172 N/A Increasing risk Cervical squamous cell carcinoma Amplification of miR-30d and its dysfunction is significantly associated with the increasing risk of Cervical squamous cell carcinoma by using case-control analysis in 136 cases of cervical squamous cell carcinoma tissues and matched adjacent normal ovarian epithelial tissues. By using the disease cell lines or tissues, the interference of miR-30d has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. Moreover, the physiological function of miR-30d(mutation or interference expression) is documented by organism models in vivo such as xenograft or transgenic model etc. 1.5 Amplification and up-regulation of MIR30D was associated with disease progression of cervical squamous cell carcinomas. NCRV0000001229 22319602 hsa-miRNA-1207-5p rs13385 T N/a 103 patients diagnosed with mild or severe glomerulopathy EFO_0003086 N/A Increasing risk Cfhr5 nephropathy rs13385-T of hsa-miRNA-1207-5p and its dysfunction is significantly associated with the increasing risk of CFHR5 nephropathy by using analysis of sequence variation in 103 patients diagnosed with mild or severe glomerulopathy. By using the disease cell lines or tissues, the mutation of hsa-miRNA-1207-5p has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 A miR-1207-5p binding site polymorphism abolishes regulation of HBEGF and is associated with disease severity in CFHR5 nephropathy. NCRV0000003322 24995424 miR-122 rs4309483 A Dominant 1,300 hbv-positive hcc cases, 1,344 hbv carriers, and 1,344 persons who cleared hbv naturally EFO_0004239 N/A Decreasing risk Chronic hepatitis b virus infection rs4309483-A of miR-122 and its dysfunction is significantly associated with the decreasing risk of chronic hepatitis B virus infection by using case-control analysis in 1,300 HBV-positive HCC cases, 1,344 HBV carriers, and 1,344 persons who cleared HBV naturally . By using the disease cell lines or tissues, the mutation of miR-122 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 A genetic variant in microRNA-122 regulatory region confers risk for chronic hepatitis B virus infection and hepatocellular carcinoma in Han Chinese. NCRV0000000868 24995424 miR-122 rs4503880 A N/a 1,300 hbv-positive hcc cases, 1,344 hbv carriers, and 1,344 persons who cleared hbv naturally EFO_0004239 N/A No significance for risk Chronic hepatitis b virus infection rs4503880-A of miR-122 and its dysfunction is not significantly associated with chronic hepatitis B virus infection by using case-control analysis in 1,300 HBV-positive HCC cases, 1,344 HBV carriers, and 1,344 persons who cleared HBV naturally . 0.4 A genetic variant in microRNA-122 regulatory region confers risk for chronic hepatitis B virus infection and hepatocellular carcinoma in Han Chinese. NCRV0000000763 22019503 mir-146a rs2910164 C N/a 262 patients EFO_0000685 N/A No significance for risk Chronic inflammation in rheumatoid arthritis rs2910164-C of mir-146a and its dysfunction is not significantly associated with chronic inflammation in rheumatoid arthritis by using analysis of sequence variation in 262 patients. 0.4 Association of polymorphisms in pre-miRNA with inflammatory biomarkers in rheumatoid arthritis in the Chinese Han population. NCRV0000000294 22019503 hsa-mir-499 rs3746444 C N/a 262 patients EFO_0000685 N/A Poor prognosis Chronic inflammation in rheumatoid arthritis rs3746444-C of hsa-mir-499 and its dysfunction is significantly associated with the increasing risk of chronic inflammation in rheumatoid arthritis by using analysis of sequence variation in 262 patients. 0.4 Association of polymorphisms in pre-miRNA with inflammatory biomarkers in rheumatoid arthritis in the Chinese Han population. NCRV0000001439 16251535 miR-29b-2 chr1:207975576 A Dominant 75 patients with cll and 160 control subjects EFO_0000095 N/A Increasing risk Chronic lymphocytic leukemia chr1:207975576-A of miR-29b-2 and its dysfunction is significantly associated with the increasing risk of chronic lymphocytic leukemia by using case-control analysis in 75 patients with CLL and 160 control subjects. 0.4 A MicroRNA signature associated with prognosis and progression in chronic lymphocytic leukemia. NCRV0000002951 16251535 miR-29b-2 chr1:207975681 insA Dominant 75 patients with cll and 160 control subjects EFO_0000095 N/A Increasing risk Chronic lymphocytic leukemia chr1:207975681-insA of miR-29b-2 and its dysfunction is significantly associated with the increasing risk of chronic lymphocytic leukemia by using case-control analysis in 75 patients with CLL and 160 control subjects. 0.4 A MicroRNA signature associated with prognosis and progression in chronic lymphocytic leukemia. NCRV0000002441 16251535 miR-16-1 chr13:50623102 T Dominant 75 patients with cll and 160 control subjects EFO_0000095 N/A Increasing risk Chronic lymphocytic leukemia chr13:50623102-T of miR-16-1 and its dysfunction is significantly associated with the increasing risk of chronic lymphocytic leukemia by using case-control analysis in 75 patients with CLL and 160 control subjects. 0.4 A MicroRNA signature associated with prognosis and progression in chronic lymphocytic leukemia. NCRV0000001746 16251535 miR-206 chr6:52009031 T Dominant 75 patients with cll and 160 control subjects EFO_0000095 N/A Increasing risk Chronic lymphocytic leukemia chr6:52009031-T of miR-206 and its dysfunction is significantly associated with the increasing risk of chronic lymphocytic leukemia by using case-control analysis in 75 patients with CLL and 160 control subjects. 0.4 A MicroRNA signature associated with prognosis and progression in chronic lymphocytic leukemia. NCRV0000002747 16251535 miR-29c rs150749580 T Dominant 75 patients with cll and 160 control subjects EFO_0000095 N/A Increasing risk Chronic lymphocytic leukemia rs150749580-T of miR-29c and its dysfunction is significantly associated with the increasing risk of chronic lymphocytic leukemia by using case-control analysis in 75 patients with CLL and 160 control subjects. 0.4 A MicroRNA signature associated with prognosis and progression in chronic lymphocytic leukemia. NCRV0000003641 16251535 miR-187 rs368471398 C Dominant 75 patients with cll and 160 control subjects EFO_0000095 N/A Increasing risk Chronic lymphocytic leukemia rs368471398-C of miR-187 and its dysfunction is significantly associated with the increasing risk of chronic lymphocytic leukemia by using case-control analysis in 75 patients with CLL and 160 control subjects. 0.4 A MicroRNA signature associated with prognosis and progression in chronic lymphocytic leukemia. NCRV0000001911 16251535 miR-27b rs377625161 A Dominant 75 patients with cll and 160 control subjects EFO_0000095 N/A Increasing risk Chronic lymphocytic leukemia rs377625161-A of miR-27b and its dysfunction is significantly associated with the increasing risk of chronic lymphocytic leukemia by using case-control analysis in 75 patients with CLL and 160 control subjects. 0.4 A MicroRNA signature associated with prognosis and progression in chronic lymphocytic leukemia. NCRV0000003682 16251535 miR-122a rs41292412 T Dominant 75 patients with cll and 160 control subjects EFO_0000095 N/A Increasing risk Chronic lymphocytic leukemia rs41292412-T of miR-122a and its dysfunction is significantly associated with the increasing risk of chronic lymphocytic leukemia by using case-control analysis in 75 patients with CLL and 160 control subjects. 0.4 A MicroRNA signature associated with prognosis and progression in chronic lymphocytic leukemia. NCRV0000000447 16251535 miR-187 rs74699517 A Dominant 75 patients with cll and 160 control subjects EFO_0000095 N/A Increasing risk Chronic lymphocytic leukemia rs74699517-A of miR-187 and its dysfunction is significantly associated with the increasing risk of chronic lymphocytic leukemia by using case-control analysis in 75 patients with CLL and 160 control subjects. 0.4 A MicroRNA signature associated with prognosis and progression in chronic lymphocytic leukemia. NCRV0000003017 16251535 miR-206 rs759899676 T Dominant 75 patients with cll and 160 control subjects EFO_0000095 N/A Increasing risk Chronic lymphocytic leukemia rs759899676-T of miR-206 and its dysfunction is significantly associated with the increasing risk of chronic lymphocytic leukemia by using case-control analysis in 75 patients with CLL and 160 control subjects. 0.4 A MicroRNA signature associated with prognosis and progression in chronic lymphocytic leukemia. NCRV0000003773 24306027 miR-16-1 chr13:50623115 G Dominant 98 chronic lymphocytic leukemia patients(cll), additionally, the primary regions of mir-29b-2/29c and mir-16-1 were analyzed in another cohort of 213 and 193 cll patients EFO_0000095 N/A Increasing risk Chronic lymphocytic leukemia chr13:50623115-G of miR-16-1 and its dysfunction is significantly associated with the increasing risk of chronic lymphocytic leukemia by using case-control analysis in 98 chronic lymphocytic leukemia patients(CLL), Additionally, the primary regions of miR-29b-2/29c and miR-16-1 were analyzed in another cohort of 213 and 193 CLL patients. 0.4 Identification of novel sequence variations in microRNAs in chronic lymphocytic leukemia. NCRV0000002276 24306027 miR-142-3p chr17:56408618 A Dominant 98 chronic lymphocytic leukemia patients(cll), additionally, the primary regions of mir-29b-2/29c and mir-16-1 were analyzed in another cohort of 213 and 193 cll patients EFO_0000095 N/A Increasing risk Chronic lymphocytic leukemia chr17:56408618-A of miR-142-3p and its dysfunction is significantly associated with the increasing risk of chronic lymphocytic leukemia by using case-control analysis in 98 chronic lymphocytic leukemia patients(CLL), Additionally, the primary regions of miR-29b-2/29c and miR-16-1 were analyzed in another cohort of 213 and 193 CLL patients. 0.4 Identification of novel sequence variations in microRNAs in chronic lymphocytic leukemia. NCRV0000000201 24306027 miR-29a rs1353592465 G Dominant 98 chronic lymphocytic leukemia patients(cll), additionally, the primary regions of mir-29b-2/29c and mir-16-1 were analyzed in another cohort of 213 and 193 cll patients EFO_0000095 N/A Increasing risk Chronic lymphocytic leukemia rs1353592465-G of miR-29a and its dysfunction is significantly associated with the increasing risk of chronic lymphocytic leukemia by using case-control analysis in 98 chronic lymphocytic leukemia patients(CLL), Additionally, the primary regions of miR-29b-2/29c and miR-16-1 were analyzed in another cohort of 213 and 193 CLL patients. 0.4 Identification of novel sequence variations in microRNAs in chronic lymphocytic leukemia. NCRV0000002819 24306027 miR-106b rs370912855 A Dominant 98 chronic lymphocytic leukemia patients(cll), additionally, the primary regions of mir-29b-2/29c and mir-16-1 were analyzed in another cohort of 213 and 193 cll patients EFO_0000095 N/A Increasing risk Chronic lymphocytic leukemia rs370912855-A of miR-106b and its dysfunction is significantly associated with the increasing risk of chronic lymphocytic leukemia by using case-control analysis in 98 chronic lymphocytic leukemia patients(CLL), Additionally, the primary regions of miR-29b-2/29c and miR-16-1 were analyzed in another cohort of 213 and 193 CLL patients. 0.4 Identification of novel sequence variations in microRNAs in chronic lymphocytic leukemia. NCRV0000000453 24306027 miR-29b-2 rs760739783 C Dominant 98 chronic lymphocytic leukemia patients(cll), additionally, the primary regions of mir-29b-2/29c and mir-16-1 were analyzed in another cohort of 213 and 193 cll patients EFO_0000095 N/A Increasing risk Chronic lymphocytic leukemia rs760739783-C of miR-29b-2 and its dysfunction is significantly associated with the increasing risk of chronic lymphocytic leukemia by using case-control analysis in 98 chronic lymphocytic leukemia patients(CLL), Additionally, the primary regions of miR-29b-2/29c and miR-16-1 were analyzed in another cohort of 213 and 193 CLL patients. 0.4 Identification of novel sequence variations in microRNAs in chronic lymphocytic leukemia. NCRV0000002451 24306027 miR-372 rs765248574 C Dominant 98 chronic lymphocytic leukemia patients(cll), additionally, the primary regions of mir-29b-2/29c and mir-16-1 were analyzed in another cohort of 213 and 193 cll patients EFO_0000095 N/A Increasing risk Chronic lymphocytic leukemia rs765248574-C of miR-372 and its dysfunction is significantly associated with the increasing risk of chronic lymphocytic leukemia by using case-control analysis in 98 chronic lymphocytic leukemia patients(CLL), Additionally, the primary regions of miR-29b-2/29c and miR-16-1 were analyzed in another cohort of 213 and 193 CLL patients. 0.4 Identification of novel sequence variations in microRNAs in chronic lymphocytic leukemia. NCRV0000001009 27043015 MIR-196a2 rs11614913 T N/a 108 chronic obstructive pulmonary disease male patients and 116 unrelated controls EFO_0000341 N/A No significance for risk Chronic obstructive pulmonary disease rs11614913-T of MIR-196a2 and its dysfunction is not significantly associated with Chronic obstructive pulmonary disease by using case-control analysis in 108 Chronic obstructive pulmonary disease male patients and 116 unrelated controls. 0.4 Association of MicroRNA-196a2 Variant with Response to Short-Acting beta2-Agonist in COPD: An Egyptian Pilot Study. NCRV0000001782 26852168 mir-146a rs2910164 G Dominant 165 patients with chronic pancreatitis and 200 healthy controls EFO_0000342 N/A Increasing risk Chronic pancreatitis rs2910164-G of mir-146a and its dysfunction is significantly associated with the increasing risk of chronic pancreatitis by using case-control analysis in 165 patients with chronic pancreatitis and 200 healthy controls. By using the disease cell lines or tissues, the mutation of mir-146a has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Association between microRNA polymorphisms and chronic pancreatitis. NCRV0000000607 27601451 6p22.3 rs10456847 G Dominant 16,415 hispanic/latino individuals EFO_0006343 N/A Increasing risk Chronic periodontitis rs10456847-G of 6p22.3 and its dysfunction is significantly associated with the increasing risk of Chronic periodontitis by using genome-wide association analysis in 16,415 Hispanic/Latino individuals. 0.4 Chronic Periodontitis Genome-wide Association Study in the Hispanic Community Health Study / Study of Latinos. NCRV0000001694 27601451 1q22 rs13373934 C Dominant 16,415 hispanic/latino individuals EFO_0006343 N/A Increasing risk Chronic periodontitis rs13373934-C of 1q22 and its dysfunction is significantly associated with the increasing risk of Chronic periodontitis by using genome-wide association analysis in 16,415 Hispanic/Latino individuals. 0.4 Chronic Periodontitis Genome-wide Association Study in the Hispanic Community Health Study / Study of Latinos. NCRV0000000350 27601451 TSNAX-DISC1 rs149133391 C Dominant 16,415 hispanic/latino individuals EFO_0006343 N/A Increasing risk Chronic periodontitis rs149133391-C of TSNAX-DISC1 and its dysfunction is significantly associated with the increasing risk of Chronic periodontitis by using genome-wide association analysis in 16,415 Hispanic/Latino individuals. 0.4 Chronic Periodontitis Genome-wide Association Study in the Hispanic Community Health Study / Study of Latinos. NCRV0000002242 27601451 5p15.33 rs186066047 A Dominant 16,415 hispanic/latino individuals EFO_0006343 N/A Increasing risk Chronic periodontitis rs186066047-A of 5p15.33 and its dysfunction is significantly associated with the increasing risk of Chronic periodontitis by using genome-wide association analysis in 16,415 Hispanic/Latino individuals. 0.4 Chronic Periodontitis Genome-wide Association Study in the Hispanic Community Health Study / Study of Latinos. NCRV0000002040 27601451 11p15.1 rs75715012 A Dominant 16,415 hispanic/latino individuals EFO_0006343 N/A Increasing risk Chronic periodontitis rs75715012-A of 11p15.1 and its dysfunction is significantly associated with the increasing risk of Chronic periodontitis by using genome-wide association analysis in 16,415 Hispanic/Latino individuals. 0.4 Chronic Periodontitis Genome-wide Association Study in the Hispanic Community Health Study / Study of Latinos. NCRV0000001279 28732738 miR-125a rs12976445 C Recessive 262 cases (chronic periodontitis patients) and 288 controls (individuals with healthy gingiva) EFO_0006343 N/A Increasing risk Chronic periodontitis rs12976445-C of miR-125a and its dysfunction is significantly associated with the increasing risk of chronic periodontitis by using case-control analysis in 262 cases (chronic periodontitis patients) and 288 controls (individuals with healthy gingiva). 0.4 Association of microRNA-125a and microRNA-499a polymorphisms in chronic periodontitis in a sample south Indian population: A hospital-based genetic association study. NCRV0000002493 28732738 miR-499a rs3746444 C Dominant 262 cases (chronic periodontitis patients) and 288 controls (individuals with healthy gingiva) EFO_0006343 N/A Increasing risk Chronic periodontitis rs3746444-C of miR-499a and its dysfunction is significantly associated with the increasing risk of chronic periodontitis by using case-control analysis in 262 cases (chronic periodontitis patients) and 288 controls (individuals with healthy gingiva). 0.4 Association of microRNA-125a and microRNA-499a polymorphisms in chronic periodontitis in a sample south Indian population: A hospital-based genetic association study. NCRV0000000395 28218896 miRNA-146a rs2910164 C Dominant 342 chronic prostatitis patients with erectile dysfunction and 363 chronic prostatitis patients without erectile dysfunction EFO_0003830 N/A Decreasing risk Chronic prostatitis rs2910164-C of miRNA-146a and its dysfunction is significantly associated with the decreasing risk of Chronic Prostatitis by using case-control analysis in 342 Chronic Prostatitis patients with erectile dysfunction and 363 Chronic Prostatitis patients without erectile dysfunction. By using the disease cell lines or tissues, the interference and mutation of miRNA-146a has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 A Variant in the Precursor of MicroRNA-146a is Responsible for Development of Erectile Dysfunction in Patients with Chronic Prostatitis via Targeting NOS1. NCRV0000003881 22012839 microRNA-140 rs7205289 A Recessive 169 patients with nonsyndromic cleft palate and 306 unaffected controls HP_0000175 N/A Increasing risk Cleft palate rs7205289-A of microRNA-140 and its dysfunction is significantly associated with the increasing risk of cleft palate by using case-control analysis in 169 patients with nonsyndromic cleft palate and 306 unaffected controls. By using the disease cell lines or tissues, the interference and mutation of microRNA-140 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. Moreover, the ncRNA variation-disease association was validated by complex experiments. 1.4 Biological and epidemiological evidence of interaction of infant genotypes at Rs7205289 and maternal passive smoking in cleft palate. NCRV0000003021 27626436 H19 rs2067051 T Dominant 703 coal workers' pneumoconiosis cases and 705 controls. EFO_1000814 N/A Decreasing risk Coal workers' pneumoconiosis rs2067051-T of H19 and its dysfunction is significantly associated with the decreasing risk of Coal Workers' Pneumoconiosis by using case-control analysis in 703 Coal Workers' Pneumoconiosis cases and 705 controls 0.4 Polymorphisms in Long Noncoding RNA H19 Contribute to the Protective Effects of Coal Workers' Pneumoconiosis in a Chinese Population.LID - 10.3390/ijerph13090903 [doi]LID - E903 [pii]AB - The H19 is a kind of long noncoding RNA, which has been NCRV0000001745 27626436 H19 rs217727 A N/a 703 coal workers' pneumoconiosis cases and 705 controls. EFO_1000814 N/A No significance for risk Coal workers' pneumoconiosis rs217727-A of H19 and its dysfunction is not significantly associated with Coal Workers' Pneumoconiosis by using case-control analysis in 703 Coal Workers' Pneumoconiosis cases and 705 controls 0.4 Polymorphisms in Long Noncoding RNA H19 Contribute to the Protective Effects of Coal Workers' Pneumoconiosis in a Chinese Population.LID - 10.3390/ijerph13090903 [doi]LID - E903 [pii]AB - The H19 is a kind of long noncoding RNA, which has been NCRV0000000691 27626436 H19 rs2839702 C N/a 703 coal workers' pneumoconiosis cases and 705 controls. EFO_1000814 N/A No significance for risk Coal workers' pneumoconiosis rs2839702-C of H19 and its dysfunction is not significantly associated with Coal Workers' Pneumoconiosis by using case-control analysis in 703 Coal Workers' Pneumoconiosis cases and 705 controls 0.4 Polymorphisms in Long Noncoding RNA H19 Contribute to the Protective Effects of Coal Workers' Pneumoconiosis in a Chinese Population.LID - 10.3390/ijerph13090903 [doi]LID - E903 [pii]AB - The H19 is a kind of long noncoding RNA, which has been NCRV0000002952 18356149 miR-323 chr14:101492193 A Dominant >100 human tumor tissues and 20 cancer cell lines EFO_0005842 N/A Increasing risk Colorectal cancer chr14:101492193-A of miR-323 and its dysfunction is significantly associated with the increasing risk of colorectal cancer by using case-control analysis in >100 human tumor tissues and 20 cancer cell lines. 0.4 Genetic variations of microRNAs in human cancer and their effects on the expression of miRNAs. NCRV0000000231 18356149 miR-520e rs371021430 C Dominant >100 human tumor tissues and 20 cancer cell lines EFO_0005842 N/A Increasing risk Colorectal cancer rs371021430-C of miR-520e and its dysfunction is significantly associated with the increasing risk of colorectal cancer by using case-control analysis in >100 human tumor tissues and 20 cancer cell lines. 0.4 Genetic variations of microRNAs in human cancer and their effects on the expression of miRNAs. NCRV0000001225 18356149 miR-206 rs542422778 T Dominant >100 human tumor tissues and 20 cancer cell lines EFO_0005842 N/A Increasing risk Colorectal cancer rs542422778-T of miR-206 and its dysfunction is significantly associated with the increasing risk of colorectal cancer by using case-control analysis in >100 human tumor tissues and 20 cancer cell lines. 0.4 Genetic variations of microRNAs in human cancer and their effects on the expression of miRNAs. NCRV0000000662 20585341 miRNA26a-1 rs7372209 T Recessive 61 patients EFO_0005842 5-fluorouracil; irinotecan Poor prognosis Colorectal cancer rs7372209-T of miRNA26a-1 and its dysfunction is significantly associated with the poor prognosis of colorectal cancer by using analysis of sequence variation in 61 patients. 0.4 Role of primary miRNA polymorphic variants in metastatic colon cancer patients treated with 5-fluorouracil and irinotecan. NCRV0000000485 23796952 CCAT2 rs6983267 G Dominant 191 colorectal cancer samples and 70 non-neoplastic mucosa samples EFO_0005842 N/A Increasing risk Colorectal cancer rs6983267-G of CCAT2 and its dysfunction is significantly associated with the increasing risk of colorectal cancer by using case-control analysis in 191 colorectal cancer samples and 70 non-neoplastic mucosa samples. By using the disease cell lines or tissues, the interference and mutation of CCAT2 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. Moreover, the ncRNA variation-disease association was validated by complex experiments. 1.4 CCAT2, a novel noncoding RNA mapping to 8q24, underlies metastatic progression and chromosomal instability in colon cancer. NCRV0000003978 24727325 let-7 rs61764370 G N/a whole blood (n = 2,834) and compared with paired tumor tissue (n = 977) EFO_0005842 N/A No significance for risk Colorectal cancer rs61764370-G of let-7 and its dysfunction is not significantly associated with colorectal cancer by using case-control analysis in whole blood (n = 2,834) and compared with paired tumor tissue (n = 977). 0.4 Association study of the let-7 miRNA-complementary site variant in the 3' untranslated region of the KRAS gene in stage III colon cancer (NCCTG N0147 Clinical Trial). NCRV0000003978 20177422 Let-7 rs61764370 T N/a 134 patients with mcrc EFO_0005842 N/A Increasing risk Colorectal cancer rs61764370-T of Let-7 and its dysfunction is significantly associated with the increasing risk of colorectal cancer by using analysis of sequence variation in 134 patients with MCRC. By using the disease cell lines or tissues, the mutation of Let-7 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Genetic modulation of the Let-7 microRNA binding to KRAS 3'-untranslated region and survival of metastatic colorectal cancer patients treated with salvage cetuximab-irinotecan. NCRV0000003804 21241442 miRNA-196a2 rs11614913 C N/a 126 crc patients and 407 healthy controls EFO_0005842 N/A No significance for risk Colorectal cancer rs11614913-C of miRNA-196a2 and its dysfunction is not significantly associated with colorectal cancer by using case-control analysis in 126 CRC patients and 407 healthy controls. 0.4 A variant in microRNA-196a2 is not associated with susceptibility to and progression of colorectal cancer in Chinese. NCRV0000003804 21565628 miRNA-196a2 rs11614913 C N/a 252 crc patients and 543 healthy controls EFO_0005842 N/A Increasing risk Colorectal cancer rs11614913 -C of miRNA-196a2 and its dysfunction is significantly associated with the increasing risk of colorectal cancer by using case-control analysis in 252 CRC patients and 543 healthy controls. 0.4 A functional variant in microRNA-196a2 is associated with susceptibility of colorectal cancer in a Chinese population. NCRV0000000593 22028396 miR-608 rs4919510 ? N/a 408 crc patients with surgically-resected adenocarcinoma EFO_0005842 N/A Poor prognosis Colorectal cancer rs4919510-? of miR-608 and its dysfunction is significantly associated with the increasing risk of colorectal cancer by using case-control analysis in 408 CRC patients with surgically-resected adenocarcinoma. By using the disease cell lines or tissues, the mutation of miR-608 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Genetic polymorphisms in pre-microRNA genes as prognostic markers of colorectal cancer. NCRV0000003676 22028396 miR-423 rs6505162 ? N/a 408 crc patients with surgically-resected adenocarcinoma EFO_0005842 N/A Poor prognosis Colorectal cancer rs6505162-? of miR-423 and its dysfunction is significantly associated with the increasing risk of colorectal cancer by using case-control analysis in 408 CRC patients with surgically-resected adenocarcinoma. 0.4 Genetic polymorphisms in pre-microRNA genes as prognostic markers of colorectal cancer. NCRV0000003804 22719192 miR-196a2 rs11614913 T N/a 197 cases of sporadic crc and 212 cancer-free controls in the central-european caucasian population EFO_0005842 N/A No significance for risk Colorectal cancer rs11614913-T of miR-196a2 and its dysfunction is not significantly associated with colorectal cancer by using case-control analysis in 197 cases of sporadic CRC and 212 cancer-free controls in the Central-European Caucasian population. 0.4 Evaluation of SNPs in miR-196-a2, miR-27a and miR-146a as risk factors of colorectal cancer. NCRV0000000463 22719192 miR-146a rs2910164 C N/a 197 cases of sporadic crc and 212 cancer-free controls in the central-european caucasian population EFO_0005842 N/A No significance for risk Colorectal cancer rs2910164-C of miR-146a and its dysfunction is not significantly associated with colorectal cancer by using case-control analysis in 197 cases of sporadic CRC and 212 cancer-free controls in the Central-European Caucasian population. 0.4 Evaluation of SNPs in miR-196-a2, miR-27a and miR-146a as risk factors of colorectal cancer. NCRV0000000444 22719192 miR-27a rs895819 G N/a 197 cases of sporadic crc and 212 cancer-free controls in the central-european caucasian population EFO_0005842 N/A No significance for risk Colorectal cancer rs895819-G of miR-27a and its dysfunction is not significantly associated with colorectal cancer by using case-control analysis in 197 cases of sporadic CRC and 212 cancer-free controls in the Central-European Caucasian population. 0.4 Evaluation of SNPs in miR-196-a2, miR-27a and miR-146a as risk factors of colorectal cancer. NCRV0000000463 23306950 miR-146a rs2910164 C Dominant 1,147 crc patients and 1,203 cancer-free controls EFO_0005842 N/A Decreasing risk Colorectal cancer rs2910164-C of miR-146a and its dysfunction is significantly associated with the decreasing risk of colorectal cancer by using case-control analysis in 1,147 CRC patients and 1,203 cancer-free controls. 0.4 A genetic variant in miR-146a modifies colorectal cancer susceptibility in a Chinese population. NCRV0000000990 23922111 miRNA-126 rs4636297 G N/a 230 patients from a randomised phase iii study EFO_0005842 N/A Decreasing risk Colorectal cancer rs4636297-G of miRNA-126 and its dysfunction is significantly associated with the decreasing risk of colorectal cancer by using analysis of sequence variation in 230 patients from a randomised phase III study. By using the disease cell lines or tissues, the interference and mutation of miRNA-126 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 MicroRNA-126 and epidermal growth factor-like domain 7-an angiogenic couple of importance in metastatic colorectal cancer. Results from the Nordic ACT trial. NCRV0000001070 24337371 miR-34 rs4938723 C N/a 545 crc patients and 428 healthy controls EFO_0005842 N/A Decreasing risk Colorectal cancer rs4938723-C of miR-34 and its dysfunction is significantly associated with the decreasing risk of colorectal cancer by using case-control analysis in 545 CRC patients and 428 healthy controls. 0.4 Polymorphisms of the pri-miR-34b/c promoter and TP53 codon 72 are associated with risk of colorectal cancer. NCRV0000000463 24740563 miR-146a rs2910164 C Dominant 554 colorectal cancer cases and 566 matched healthy controls EFO_0005842 N/A Increasing risk Colorectal cancer rs2910164-C of miR-146a and its dysfunction is significantly associated with the increasing risk of colorectal cancer by using case-control analysis in 554 colorectal cancer cases and 566 matched healthy controls. 0.4 Association of a genetic variant in microRNA-146a with risk of colorectal cancer: a population-based case-control study. NCRV0000000444 25078482 pre-miR-27a rs895819 G Recessive 205 colorectal cancer patients and 455 healthy controls EFO_0005842 N/A Increasing risk Colorectal cancer rs895819-G of pre-miR-27a and its dysfunction is significantly associated with the increasing risk of colorectal cancer by using case-control analysis in 205 colorectal cancer patients and 455 healthy controls. 0.4 Association between miR-27a genetic variants and susceptibility to colorectal cancer. NCRV0000003804 25213291 miR-196a2 rs11614913 C N/a 2,209 cancers and 2,803 controls EFO_0005842 N/A Increasing risk Colorectal cancer rs11614913-C of miR-196a2 and its dysfunction is significantly associated with the increasing risk of colorectal cancer by using meta-analysis in 2,209 cancers and 2,803 controls. 0.4 Genetic polymorphisms in miRNAs and susceptibility to colorectal cancer. NCRV0000003970 25213291 mir-149 rs2292832 T N/a 1,409 cases and 1,115 controls EFO_0005842 N/A No significance for risk Colorectal cancer rs2292832-T of mir-149 and its dysfunction is not significantly associated with colorectal cancer by using meta-analysis in 1,409 cases and 1,115 controls. 0.4 Genetic polymorphisms in miRNAs and susceptibility to colorectal cancer. NCRV0000000463 25213291 miR-146a rs2910164 C N/a 2,349 cases and 2,663 controls EFO_0005842 N/A No significance for risk Colorectal cancer rs2910164-C of miR-146a and its dysfunction is not significantly associated with colorectal cancer by using meta-analysis in 2,349 cases and 2,663 controls. 0.4 Genetic polymorphisms in miRNAs and susceptibility to colorectal cancer. NCRV0000000444 25222241 miRNA-27a rs895819 G N/a 254 colorectal cancer (crc) patients and 238 healthy controls EFO_0005842 N/A Increasing risk Colorectal cancer rs895819-G of miRNA-27a and its dysfunction is significantly associated with the increasing risk of colorectal cancer by using case-control analysis in 254 colorectal cancer (CRC) patients and 238 healthy controls. 0.4 Association between a functional variant in microRNA-27a and susceptibility to colorectal cancer in a Chinese Han population. NCRV0000000857 25368035 miR-219-1 rs213210 T Dominant 1083 crc patients recruited in the czech republic EFO_0005842 N/A Poor prognosis Colorectal cancer rs213210-T of miR-219-1 and its dysfunction is significantly associated with the poor prognosis of Colorectal cancer by using case-control analysis in 1083 CRC patients recruited in the Czech Republic. 0.4 Polymorphisms in microRNA genes as predictors of clinical outcomes in colorectal cancer patients. NCRV0000000593 25368035 miR-608 rs4919510 G Dominant 1083 crc patients recruited in the czech republic EFO_0005842 N/A Better prognosis Colorectal cancer rs4919510-G of miR-608 and its dysfunction is significantly associated with the better prognosis of Colorectal cancer by using case-control analysis in 1083 CRC patients recruited in the Czech Republic. 0.4 Polymorphisms in microRNA genes as predictors of clinical outcomes in colorectal cancer patients. NCRV0000002297 25740697 piR-015551 rs11776042 C Dominant 1147 patients with crc (cases) and 1203 cancer©\free individuals EFO_0005842 N/A Decreasing risk Colorectal cancer rs11776042-C of piR-015551 and its dysfunction is significantly associated with the decreasing risk of colorectal cancer by using case-control analysis in 1147 patients with CRC (cases) and 1203 cancer©\free individuals . 0.4 Genetic variants in noncoding PIWI-interacting RNA and colorectal cancer risk. NCRV0000001989 25740697 piR_000335 rs34383331 T N/a 1147 patients with crc (cases) and 1203 cancer©\free individuals EFO_0005842 N/A No significance for risk Colorectal cancer rs34383331-T of piR_000335 and its dysfunction is not significantly associated with colorectal cancer by using case-control analysis in 1147 patients with CRC (cases) and 1203 cancer©\free individuals . 0.4 Genetic variants in noncoding PIWI-interacting RNA and colorectal cancer risk. NCRV0000001081 25740697 piR_005132 rs2070766 G N/a 1147 patients with crc (cases) and 1203 cancer©\free individuals EFO_0005842 N/A No significance for risk Colorectal cancer rs2070766-G of piR_005132 and its dysfunction is not significantly associated with colorectal cancer by using case-control analysis in 1147 patients with CRC (cases) and 1203 cancer©\free individuals . 0.4 Genetic variants in noncoding PIWI-interacting RNA and colorectal cancer risk. NCRV0000003178 25740697 piR_015481 rs2070766 G N/a 1147 patients with crc (cases) and 1203 cancer©\free individuals EFO_0005842 N/A No significance for risk Colorectal cancer rs2070766-G of piR_015481 and its dysfunction is not significantly associated with colorectal cancer by using case-control analysis in 1147 patients with CRC (cases) and 1203 cancer©\free individuals . 0.4 Genetic variants in noncoding PIWI-interacting RNA and colorectal cancer risk. NCRV0000003674 25740697 piR_021520 rs2070766 G N/a 1147 patients with crc (cases) and 1203 cancer©\free individuals EFO_0005842 N/A No significance for risk Colorectal cancer rs2070766-G of piR_021520 and its dysfunction is not significantly associated with colorectal cancer by using case-control analysis in 1147 patients with CRC (cases) and 1203 cancer©\free individuals . 0.4 Genetic variants in noncoding PIWI-interacting RNA and colorectal cancer risk. NCRV0000003263 25740697 piR_020980 rs9368782 G N/a 1147 patients with crc (cases) and 1203 cancer©\free individuals EFO_0005842 N/A No significance for risk Colorectal cancer rs9368782-G of piR_020980 and its dysfunction is not significantly associated with colorectal cancer by using case-control analysis in 1147 patients with CRC (cases) and 1203 cancer©\free individuals . 0.4 Genetic variants in noncoding PIWI-interacting RNA and colorectal cancer risk. NCRV0000000706 25740697 piR_001549 rs12483859 G N/a 1147 patients with crc (cases) and 1203 cancer©\free individuals EFO_0005842 N/A No significance for risk Colorectal cancer rs12483859-G of piR_001549 and its dysfunction is not significantly associated with colorectal cancer by using case-control analysis in 1147 patients with CRC (cases) and 1203 cancer©\free individuals . 0.4 Genetic variants in noncoding PIWI-interacting RNA and colorectal cancer risk. NCRV0000003839 25740697 piR_005938 rs10433310 T N/a 1147 patients with crc (cases) and 1203 cancer©\free individuals EFO_0005842 N/A No significance for risk Colorectal cancer rs10433310-T of piR_005938 and its dysfunction is not significantly associated with colorectal cancer by using case-control analysis in 1147 patients with CRC (cases) and 1203 cancer©\free individuals . 0.4 Genetic variants in noncoding PIWI-interacting RNA and colorectal cancer risk. NCRV0000001652 25740697 piR_002587 rs12910401 A N/a 1147 patients with crc (cases) and 1203 cancer©\free individuals EFO_0005842 N/A No significance for risk Colorectal cancer rs12910401-A of piR_002587 and its dysfunction is not significantly associated with colorectal cancer by using case-control analysis in 1147 patients with CRC (cases) and 1203 cancer©\free individuals . 0.4 Genetic variants in noncoding PIWI-interacting RNA and colorectal cancer risk. NCRV0000003804 26208586 mir-196a2 rs11614913 C Dominant Several case-control studies EFO_0005842 N/A Increasing risk Colorectal cancer rs11614913-C of mir-196a2 and its dysfunction is significantly associated with the increasing risk of colorectal cancer by using meta-analysis in several case-control studies. 0.4 Associations of Polymorphisms in mir-196a2, mir-146a and mir-149 with Colorectal Cancer Risk: A Meta-Analysis. NCRV0000003970 26208586 mir-149 rs2292832 T N/a Several case-control studies EFO_0005842 N/A No significance for risk Colorectal cancer rs2292832-T of mir-149 and its dysfunction is not significantly associated with colorectal cancer by using meta-analysis in several case-control studies. 0.4 Associations of Polymorphisms in mir-196a2, mir-146a and mir-149 with Colorectal Cancer Risk: A Meta-Analysis. NCRV0000000463 26208586 mir-146a rs2910164 G N/a Several case-control studies EFO_0005842 N/A No significance for risk Colorectal cancer rs2910164-G of mir-146a and its dysfunction is not significantly associated with colorectal cancer by using meta-analysis in several case-control studies. 0.4 Associations of Polymorphisms in mir-196a2, mir-146a and mir-149 with Colorectal Cancer Risk: A Meta-Analysis. NCRV0000000444 26302683 miR-27a rs895819 G Recessive 508 crc cases and 562 healthy check-up controls in han chinese population EFO_0005842 N/A Increasing risk Colorectal cancer rs895819-G of miR-27a and its dysfunction is significantly associated with the increasing risk of colorectal cancer by using case-control analysis in 508 CRC cases and 562 healthy check-up controls in Han Chinese Population. 0.4 Genotype GG of rs895819 Functional Polymorphism Within miR-27a Might Increase Genetic Susceptibility to Colorectal Cancer in Han Chinese Population. NCRV0000001573 27027436 H19 rs2839698 A Dominant 1,147 patients with colorectal cancer and 1,203 cancer-free controls. in a chinese population. EFO_0005842 N/A Increasing risk Colorectal cancer rs2839698-A of H19 and its dysfunction is significantly associated with the increasing risk of colorectal cancer by using case-control analysis in 1,147 patients with colorectal cancer and 1,203 cancer-free controls. in a Chinese population 0.4 Association of genetic variants in lncRNA H19 with risk of colorectal cancer in a Chinese population. NCRV0000000493 27027436 H19 rs3024270 G Dominant 1,147 patients with colorectal cancer and 1,203 cancer-free controls. in a chinese population. EFO_0005842 N/A No significance for risk Colorectal cancer rs3024270-G of H19 and its dysfunction is not significantly associated with colorectal cancer by using case-control analysis in 1,147 patients with colorectal cancer and 1,203 cancer-free controls. in a Chinese population 0.4 Association of genetic variants in lncRNA H19 with risk of colorectal cancer in a Chinese population. NCRV0000000088 27027436 H19 rs217727 A Dominant 1,147 patients with colorectal cancer and 1,203 cancer-free controls. in a chinese population. EFO_0005842 N/A No significance for risk Colorectal cancer rs217727-A of H19 and its dysfunction is not significantly associated with colorectal cancer by using case-control analysis in 1,147 patients with colorectal cancer and 1,203 cancer-free controls. in a Chinese population 0.4 Association of genetic variants in lncRNA H19 with risk of colorectal cancer in a Chinese population. NCRV0000000932 27027436 H19 rs2735971 C Dominant 1,147 patients with colorectal cancer and 1,203 cancer-free controls. in a chinese population. EFO_0005842 N/A No significance for risk Colorectal cancer rs2735971-C of H19 and its dysfunction is not significantly associated with colorectal cancer by using case-control analysis in 1,147 patients with colorectal cancer and 1,203 cancer-free controls. in a Chinese population 0.4 Association of genetic variants in lncRNA H19 with risk of colorectal cancer in a Chinese population. NCRV0000003804 27342110 miR-196a2 rs11614913 T Dominant 229 cancer patients (including 17 types of cancer), 26 patients with pre-cancer lesions, and 100 unrelated controls. EFO_0005842 N/A Increasing risk Colorectal cancer rs11614913-T of miR-196a2 and its dysfunction is significantly associated with the increasing risk of colorectal cancer by using case-control analysis in 229 cancer patients (including 17 types of cancer), 26 patients with pre-cancer lesions, and 100 unrelated controls. . 0.4 MicroRNA-196a2 Biomarker and Targetome Network Analysis in Solid Tumors. NCRV0000002941 27444415 miR-143 rs353292 T Dominant 809 patients with crc and 1005 gender matched controls EFO_0005842 N/A Increasing risk Colorectal cancer rs353292-T of miR-143 and its dysfunction is significantly associated with the increasing risk of colorectal cancer by using case-control analysis in 809 patients with CRC and 1005 gender matched controls. By using the disease cell lines or tissues, the mutation of miR-143 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 A functional variant rs353292 in the flanking region of miR-143/145 contributes to the risk of colorectal cancer. NCRV0000001073 27444415 miR-145 rs353292 T Dominant 809 patients with crc and 1005 gender matched controls EFO_0005842 N/A Increasing risk Colorectal cancer rs353292-T of miR-145 and its dysfunction is significantly associated with the increasing risk of colorectal cancer by using case-control analysis in 809 patients with CRC and 1005 gender matched controls. By using the disease cell lines or tissues, the mutation of miR-145 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 A functional variant rs353292 in the flanking region of miR-143/145 contributes to the risk of colorectal cancer. NCRV0000001539 27636879 mir-1302-7 chr8:142867668 ATGT/A N/a 899 individuals with crcs categorized by clinical subtypes and in 204 controls EFO_0005842 N/A Increasing risk Colorectal cancer chr8:142867668-ATGT/A of mir-1302-7 and its dysfunction is significantly associated with the increasing risk of colorectal cancer by using case-control analysis in 899 individuals with CRCs categorized by clinical subtypes and in 204 controls. 0.4 Germline miRNA DNA variants and the risk of colorectal cancer by subtype. NCRV0000001529 27636879 MIR3192 rs11907020 C N/a 899 individuals with crcs categorized by clinical subtypes and in 204 controls EFO_0005842 N/A Increasing risk Colorectal cancer rs11907020-C of MIR3192 and its dysfunction is significantly associated with the increasing risk of colorectal cancer by using case-control analysis in 899 individuals with CRCs categorized by clinical subtypes and in 204 controls. 0.4 Germline miRNA DNA variants and the risk of colorectal cancer by subtype. NCRV0000000923 27636879 MIR4669 rs35196866 A N/a 899 individuals with crcs categorized by clinical subtypes and in 204 controls EFO_0005842 N/A Increasing risk Colorectal cancer rs35196866-A of MIR4669 and its dysfunction is significantly associated with the increasing risk of colorectal cancer by using case-control analysis in 899 individuals with CRCs categorized by clinical subtypes and in 204 controls. 0.4 Germline miRNA DNA variants and the risk of colorectal cancer by subtype. NCRV0000003864 27636879 MIR381HG rs72700576 T N/a 899 individuals with crcs categorized by clinical subtypes and in 204 controls EFO_0005842 N/A Increasing risk Colorectal cancer rs72700576-T of MIR381HG and its dysfunction is significantly associated with the increasing risk of colorectal cancer by using case-control analysis in 899 individuals with CRCs categorized by clinical subtypes and in 204 controls. 0.4 Germline miRNA DNA variants and the risk of colorectal cancer by subtype. NCRV0000000186 27636879 MIR4754 rs975947 T N/a 899 individuals with crcs categorized by clinical subtypes and in 204 controls EFO_0005842 N/A Increasing risk Colorectal cancer rs975947-T of MIR4754 and its dysfunction is significantly associated with the increasing risk of colorectal cancer by using case-control analysis in 899 individuals with CRCs categorized by clinical subtypes and in 204 controls. 0.4 Germline miRNA DNA variants and the risk of colorectal cancer by subtype. NCRV0000000463 27713147 miR-146a rs2910164 C N/a 1358 0-iii stage resected crc patients and 1079 healthy controls EFO_0005842 N/A No significance for risk Colorectal cancer rs2910164-C of miR-146a and its dysfunction is not significantly associated with colorectal cancer by using case-control analysis in 1358 0-III stage resected CRC patients and 1079 healthy controls. 0.4 MiR-608, pre-miR-124-1 and pre-miR26a-1 polymorphisms modify susceptibility and recurrence-free survival in surgically resected CRC individuals. NCRV0000001966 27713147 miR-499a rs3746444 C N/a 1358 0-iii stage resected crc patients and 1079 healthy controls EFO_0005842 N/A No significance for risk Colorectal cancer rs3746444-C of miR-499a and its dysfunction is not significantly associated with colorectal cancer by using case-control analysis in 1358 0-III stage resected CRC patients and 1079 healthy controls. 0.4 MiR-608, pre-miR-124-1 and pre-miR26a-1 polymorphisms modify susceptibility and recurrence-free survival in surgically resected CRC individuals. NCRV0000002521 27713147 miR-143 rs41291957 ? N/a 1358 0-iii stage resected crc patients and 1079 healthy controls EFO_0005842 N/A No significance for risk Colorectal cancer rs41291957-? of miR-143 and its dysfunction is not significantly associated with colorectal cancer by using case-control analysis in 1358 0-III stage resected CRC patients and 1079 healthy controls. 0.4 MiR-608, pre-miR-124-1 and pre-miR26a-1 polymorphisms modify susceptibility and recurrence-free survival in surgically resected CRC individuals. NCRV0000000593 27713147 miR-608 rs4919510 G Recessive 1358 0-iii stage resected crc patients and 1079 healthy controls EFO_0005842 N/A Decreasing risk Colorectal cancer rs4919510-G of miR-608 and its dysfunction is significantly associated with the decreasing risk of colorectal cancer by using case-control analysis in 1358 0-III stage resected CRC patients and 1079 healthy controls. 0.4 MiR-608, pre-miR-124-1 and pre-miR26a-1 polymorphisms modify susceptibility and recurrence-free survival in surgically resected CRC individuals. NCRV0000003069 27713147 miR-124-1 rs531564 G N/a 1358 0-iii stage resected crc patients and 1079 healthy controls EFO_0005842 N/A Poor prognosis Colorectal cancer rs531564-G of miR-124-1 and its dysfunction is significantly associated with the poor prognosis of colorectal cancer by using case-control analysis in 1358 0-III stage resected CRC patients and 1079 healthy controls. 0.4 MiR-608, pre-miR-124-1 and pre-miR26a-1 polymorphisms modify susceptibility and recurrence-free survival in surgically resected CRC individuals. NCRV0000000662 27713147 miR-26a-1 rs7372209 T N/a 1358 0-iii stage resected crc patients and 1079 healthy controls EFO_0005842 N/A Poor prognosis Colorectal cancer rs7372209-T of miR-26a-1 and its dysfunction is significantly associated with the poor prognosis of colorectal cancer by using case-control analysis in 1358 0-III stage resected CRC patients and 1079 healthy controls. 0.4 MiR-608, pre-miR-124-1 and pre-miR26a-1 polymorphisms modify susceptibility and recurrence-free survival in surgically resected CRC individuals. NCRV0000003400 27863421 GAS5 rs145204276 del Dominant 600 newly diagnosed incident crc cases and 600 healthy controls in stage i, and 800 newly diagnosed incident crc cases and 800 healthy controls in stage ii EFO_0005842 N/A Decreasing risk Colorectal cancer rs145204276-del of GAS5 and its dysfunction is significantly associated with the decreasing risk of Colorectal cancer by using case-control analysis in 600 newly diagnosed incident CRC cases and 600 healthy controls in stage I, and 800 newly diagnosed incident CRC cases and 800 healthy controls in stage II. 0.4 LncRNA GAS5 contributes to lymphatic metastasis in colorectal cancer. NCRV0000003900 28277607 miR-423-5p rs1062044 A N/a 2347 colorectal cancer cases and 3390 controls EFO_0005842 N/A Increasing risk Colorectal cancer rs1062044-A of miR-423-5p and its dysfunction is significantly associated with the increasing risk of colorectal cancer by using case-control analysis in 2347 colorectal cancer cases and 3390 controls. By using the disease cell lines or tissues, the mutation of miR-423-5p has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Identification of a functional polymorphism affecting microRNA binding in the susceptibility locus 1q25.3 for colorectal cancer. NCRV0000001111 28418933 TINCR rs12610531 G N/a 1400 crc cases and 1400 healthy controls EFO_0005842 N/A No significance for risk Colorectal cancer rs12610531-G of TINCR and its dysfunction is not significantly associated with Colorectal cancer by using case-control analysis in 1400 CRC cases and 1400 healthy controls. 0.4 Genetic variation of long non-coding RNA TINCR contribute to the susceptibility and progression of colorectal cancer. NCRV0000003977 28418933 TINCR rs2288947 G Dominant 1400 crc cases and 1400 healthy controls EFO_0005842 N/A Decreasing risk Colorectal cancer rs2288947-G of TINCR and its dysfunction is significantly associated with the decreasing risk of Colorectal cancer by using case-control analysis in 1400 CRC cases and 1400 healthy controls. 0.4 Genetic variation of long non-coding RNA TINCR contribute to the susceptibility and progression of colorectal cancer. NCRV0000001422 28418933 TINCR rs8105637 A Dominant 1400 crc cases and 1400 healthy controls EFO_0005842 N/A Increasing risk Colorectal cancer rs8105637-A of TINCR and its dysfunction is significantly associated with the increasing risk of Colorectal cancer by using case-control analysis in 1400 CRC cases and 1400 healthy controls. 0.4 Genetic variation of long non-coding RNA TINCR contribute to the susceptibility and progression of colorectal cancer. NCRV0000001448 28612367 RP11-392P7.6 rs10845671 ? N/a Discovery set (320 cases and 319 controls) and a validation set (501 cases and 538 controls). EFO_0005842 N/A Increasing risk Colorectal cancer rs10845671-? of RP11-392P7.6 and its dysfunction is significantly associated with the increasing risk of colorectal cancer by using case-control analysis in discovery set (320 cases and 319 controls) and a validation set (501 cases and 538 controls) 0.4 Association between genetic variants in the promoter region of a novel antisense long noncoding RNA RP11-392P7.6 and colorectal cancer risk. NCRV0000000567 28887158 CASC8 rs1447295 C N/a 1119 colorectal cancer cases with a mean age of 58 years and 1297 matched healthy subjects with a mean age of 59 years in iranian population EFO_0005842 N/A No significance for risk Colorectal cancer rs1447295-C of CASC8 and its dysfunction is not significantly associated with colorectal cancer by using case-control analysis in 1119 colorectal cancer cases with a mean age of 58 years and 1297 matched healthy subjects with a mean age of 59 years in Iranian population. 0.4 Lack of association of CASC8 rs1447295 with colorectal cancer in Iranian population: A multicenter case-control study. NCRV0000003804 29715515 mir-196a2 rs11614913 C N/a 152 colorectal cancer cases and 161 controls EFO_0005842 N/A No significance for risk Colorectal cancer rs11614913-C of mir-196a2 and its dysfunction is not significantly associated with Colorectal cancer by using case-control analysis in 152 Colorectal cancer cases and 161 controls. 0.4 Contribution of microRNA-149, microRNA-146a, and microRNA-196a2 SNPs in colorectal cancer risk and clinicopathological features in Tunisia. NCRV0000003970 29715515 mir-149 rs2292832 T Dominant 152 colorectal cancer cases and 161 controls EFO_0005842 N/A Increasing risk Colorectal cancer rs2292832-T of mir-149 and its dysfunction is significantly associated with the increasing risk of Colorectal cancer by using case-control analysis in 152 Colorectal cancer cases and 161 controls. 0.4 Contribution of microRNA-149, microRNA-146a, and microRNA-196a2 SNPs in colorectal cancer risk and clinicopathological features in Tunisia. NCRV0000000463 29715515 mir-146a rs2910164 C N/a 152 colorectal cancer cases and 161 controls EFO_0005842 N/A No significance for risk Colorectal cancer rs2910164-C of mir-146a and its dysfunction is not significantly associated with Colorectal cancer by using case-control analysis in 152 Colorectal cancer cases and 161 controls. 0.4 Contribution of microRNA-149, microRNA-146a, and microRNA-196a2 SNPs in colorectal cancer risk and clinicopathological features in Tunisia. NCRV0000000463 24136745 miR-146a rs2910164 C Dominant 276 colorectal cancer cases and 373 healthy controls in chinese population EFO_0005842 N/A Decreasing risk Colorectal cancer rs2910164-C of miR-146a and its dysfunction is significantly associated with the decreasing risk of colorectal cancer by using case-control analysis in 276 colorectal cancer cases and 373 healthy controls in Chinese population. 0.4 Association between microRNA genetic variants and susceptibility to colorectal cancer in Chinese population. NCRV0000001966 24136745 miR-499 rs3746444 C N/a 276 colorectal cancer cases and 373 healthy controls in chinese population EFO_0005842 N/A No significance for risk Colorectal cancer rs3746444-C of miR-499 and its dysfunction is not significantly associated with colorectal cancer by using case-control analysis in 276 colorectal cancer cases and 373 healthy controls in Chinese population. 0.4 Association between microRNA genetic variants and susceptibility to colorectal cancer in Chinese population. NCRV0000003978 26077004 let-7 rs61764370 G N/a 428 colorectal cancer samples EFO_0005842 N/A No significance for risk Colorectal cancer rs61764370-G of let-7 and its dysfunction is not significantly associated with colorectal cancer by using analysis of sequence variation in 428 colorectal cancer samples. 0.4 Comparison of the prevalence of KRAS-LCS6 polymorphism (rs61764370) within different tumour types (colorectal, breast, non-small cell lung cancer and brain tumours). A study of the Czech population. NCRV0000000005 22661538 mir373 rs12983273 ? N/a 1,097 patients with crc EFO_0005842 N/A No significance for risk Colorectal cancer (crc) receiving first-line fluoropyrimidine-based chemotherapy rs12983273-? of mir373 and its dysfunction is not significantly associated with colorectal cancer (CRC) receiving first-line fluoropyrimidine-based chemotherapy by using analysis of sequence variation in 1,097 patients with CRC. 0.4 Genetic polymorphisms in MicroRNA-related genes as predictors of clinical outcomes in colorectal adenocarcinoma patients. NCRV0000002586 22661538 mir30c-1 rs16827546 ? N/a 1,097 patients with crc EFO_0005842 N/A No significance for risk Colorectal cancer (crc) receiving first-line fluoropyrimidine-based chemotherapy rs16827546-? of mir30c-1 and its dysfunction is not significantly associated with colorectal cancer (CRC) receiving first-line fluoropyrimidine-based chemotherapy by using analysis of sequence variation in 1,097 patients with CRC. 0.4 Genetic polymorphisms in MicroRNA-related genes as predictors of clinical outcomes in colorectal adenocarcinoma patients. NCRV0000003866 22661538 let-7f-2 rs17276588 ? N/a 1,097 patients with crc EFO_0005842 N/A No significance for risk Colorectal cancer (crc) receiving first-line fluoropyrimidine-based chemotherapy rs17276588-? of let-7f-2 and its dysfunction is not significantly associated with colorectal cancer (CRC) receiving first-line fluoropyrimidine-based chemotherapy by using analysis of sequence variation in 1,097 patients with CRC. 0.4 Genetic polymorphisms in MicroRNA-related genes as predictors of clinical outcomes in colorectal adenocarcinoma patients. NCRV0000000857 22661538 mir219-1 rs213210 T Dominant 1,097 patients with crc EFO_0005842 N/A Poor prognosis Colorectal cancer (crc) receiving first-line fluoropyrimidine-based chemotherapy rs213210-T of mir219-1 and its dysfunction is significantly associated with the poor prognosis of colorectal cancer (CRC) receiving first-line fluoropyrimidine-based chemotherapy by using analysis of sequence variation in 1,097 patients with CRC. 0.4 Genetic polymorphisms in MicroRNA-related genes as predictors of clinical outcomes in colorectal adenocarcinoma patients. NCRV0000003394 22661538 mir604 rs2368392 ? N/a 1,097 patients with crc EFO_0005842 N/A No significance for risk Colorectal cancer (crc) receiving first-line fluoropyrimidine-based chemotherapy rs2368392-? of mir604 and its dysfunction is not significantly associated with colorectal cancer (CRC) receiving first-line fluoropyrimidine-based chemotherapy by using analysis of sequence variation in 1,097 patients with CRC. 0.4 Genetic polymorphisms in MicroRNA-related genes as predictors of clinical outcomes in colorectal adenocarcinoma patients. NCRV0000000593 22661538 mir608 rs4919510 G Dominant 1,097 patients with crc EFO_0005842 N/A Poor prognosis Colorectal cancer (crc) receiving first-line fluoropyrimidine-based chemotherapy rs4919510-G of mir608 and its dysfunction is significantly associated with the poor prognosis of colorectal cancer (CRC) receiving first-line fluoropyrimidine-based chemotherapy by using analysis of sequence variation in 1,097 patients with CRC. 0.4 Genetic polymorphisms in MicroRNA-related genes as predictors of clinical outcomes in colorectal adenocarcinoma patients. NCRV0000003804 22952151 miR-196a2 rs11614913 T Dominant 3 studies involving 26,018 subjects EFO_0005842 N/A Decreasing risk Colorectal cancer rs11614913-T of miR-196a2 and its dysfunction is significantly associated with the decreasing risk of colorectal cancer by using meta-analysis in 3 studies involving 26,018 subjects. 0.4 The association of miR-146a rs2910164 and miR-196a2 rs11614913 polymorphisms with cancer risk: a meta-analysis of 32 studies. NCRV0000003676 29419695 miRNA-423 rs6505162 A N/a 117 colorectal carcinoma patients and 84 healthy controls EFO_0005842 N/A Decreasing risk Colorectal cancer rs6505162-A of miRNA-423 and its dysfunction is significantly associated with the decreasing risk of colorectal cancer by using case-control analysis in 117 colorectal carcinoma patients and 84 healthy controls. 0.4 Association of microRNA-423 rs6505162 C>A polymorphism with susceptibility and metastasis of colorectal carcinoma. NCRV0000003469 19514064 miR-196a2 rs11614913 C Recessive 1,324 chd cases and 1,783 non-chd controls EFO_0005207 N/A Increasing risk Congenital heart disease rs11614913-C of miR-196a2 and its dysfunction is significantly associated with the increasing risk of congenital heart disease by using case-control analysis in 1,324 CHD cases and 1,783 non-CHD controls. By using the disease cell lines or tissues, the mutation of miR-196a2 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Functional variant in microRNA-196a2 contributes to the susceptibility of congenital heart disease in a Chinese population. NCRV0000003566 19514064 mir-499 rs3746444 G Recessive 1,324 chd cases and 1,783 non-chd controls EFO_0005207 N/A Decreasing risk Congenital heart disease rs3746444-G of mir-499 and its dysfunction is significantly associated with the decreasing risk of congenital heart disease by using case-control analysis in 1,324 CHD cases and 1,783 non-CHD controls. 0.4 Functional variant in microRNA-196a2 contributes to the susceptibility of congenital heart disease in a Chinese population. NCRV0000002324 19514064 miR-146a rs2910164 C N/a 1,324 chd cases and 1,783 non-chd controls EFO_0005207 N/A No significance for risk Congenital heart disease rs2910164-C of miR-146a and its dysfunction is not significantly associated with congenital heart disease by using case-control analysis in 1,324 CHD cases and 1,783 non-CHD controls. 0.4 Functional variant in microRNA-196a2 contributes to the susceptibility of congenital heart disease in a Chinese population. NCRV0000002725 19514064 mir-149 rs2292832 C N/a 1,324 chd cases and 1,783 non-chd controls EFO_0005207 N/A No significance for risk Congenital heart disease rs2292832-C of mir-149 and its dysfunction is not significantly associated with congenital heart disease by using case-control analysis in 1,324 CHD cases and 1,783 non-CHD controls. 0.4 Functional variant in microRNA-196a2 contributes to the susceptibility of congenital heart disease in a Chinese population. NCRV0000001018 24065649 miR-34b/c rs4938723 C N/a 590 patients and 672 controls in a han chinese population EFO_0005207 N/A No significance for risk Congenital heart disease rs4938723-C of miR-34b/c and its dysfunction is not significantly associated with congenital heart disease by using case-control analysis in 590 patients and 672 controls in a Han Chinese population. 0.4 Single-nucleotide polymorphism of the pri-miR-34b/c gene is not associated with susceptibility to congenital heart disease in the Han Chinese population. NCRV0000002080 29198823 miR-184 chr15:79502186 T Dominant Primary human and mouse keratinocytes EFO_0009464 N/A Increasing risk Corneal/lens blinding disease chr15:79502186-T of miR-184 and its dysfunction is significantly associated with the increasing risk of corneal/lens blinding disease by using analysis of sequence variation in primary human and mouse keratinocytes. By using the disease cell lines or tissues, the interference and mutation of miR-184 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. Moreover, the ncRNA variation-disease association was validated by complex experiments. Furthermore, the physiological function of miR-184 (mutation or interference expression) is documented by organism models in vivo such as xenograft or transgenic model etc. 2 microRNA-184 Induces a Commitment Switch to Epidermal Differentiation. NCRV0000003073 22159951 mir-196a2 rs11614913 C Dominant 956 cad patients diagnosed by coronary arterial angiography and 620 controls EFO_0000378 N/A Poor prognosis Coronary artery disease rs11614913-C of mir-196a2 and its dysfunction is significantly associated with the poor prognosis of coronary artery disease by using case-control analysis in 956 CAD patients diagnosed by coronary arterial angiography and 620 controls. 0.4 Polymorphisms of miRNAs genes are associated with the risk and prognosis of coronary artery disease. NCRV0000000439 22159951 mir-499 rs3746444 G Recessive 956 cad patients diagnosed by coronary arterial angiography and 620 controls EFO_0000378 N/A Increasing risk Coronary artery disease rs3746444-G of mir-499 and its dysfunction is significantly associated with the increasing risk of coronary artery disease by using case-control analysis in 956 CAD patients diagnosed by coronary arterial angiography and 620 controls. 0.4 Polymorphisms of miRNAs genes are associated with the risk and prognosis of coronary artery disease. NCRV0000002915 23794009 miR-146a rs2910164 C N/a 106 young indian male cad patients and 100 age-, race- and sex-matched controls EFO_0000378 N/A No significance for risk Coronary artery disease rs2910164-C of miR-146a and its dysfunction is not significantly associated with coronary artery disease by using case-control analysis in 106 young Indian male CAD patients and 100 age-, race- and sex-matched controls . 0.4 miR-146a polymorphism influences levels of miR-146a, IRAK-1, and TRAF-6 in young patients with coronary artery disease. NCRV0000003073 24447667 miR-196a2 rs11614913 T N/a 295 coronary artery disease patients and 283 controls in a chinese population EFO_0000378 N/A No significance for risk Coronary artery disease rs11614913-T of miR-196a2 and its dysfunction is not significantly associated with coronary artery disease by using case-control analysis in 295 coronary artery disease patients and 283 controls in a Chinese population. 0.4 A common variant in pre-miR-146 is associated with coronary artery disease risk and its mature miRNA expression. NCRV0000002915 24447667 miR-146a rs2910164 C Dominant 295 coronary artery disease patients and 283 controls in a chinese population EFO_0000378 N/A Increasing risk Coronary artery disease rs2910164-C of miR-146a and its dysfunction is significantly associated with the increasing risk of coronary artery disease by using case-control analysis in 295 coronary artery disease patients and 283 controls in a Chinese population. 0.4 A common variant in pre-miR-146 is associated with coronary artery disease risk and its mature miRNA expression. NCRV0000000439 24447667 miR-499 rs3746444 C N/a 295 coronary artery disease patients and 283 controls in a chinese population EFO_0000378 N/A No significance for risk Coronary artery disease rs3746444-C of miR-499 and its dysfunction is not significantly associated with coronary artery disease by using case-control analysis in 295 coronary artery disease patients and 283 controls in a Chinese population. 0.4 A common variant in pre-miR-146 is associated with coronary artery disease risk and its mature miRNA expression. NCRV0000003060 25197382 miRNA-1 rs9548934 T N/a 1013 coronary artery disease patients and 610 normal controls EFO_0000378 N/A Decreasing risk Coronary artery disease rs9548934-T of miRNA-1 and its dysfunction is significantly associated with the decreasing risk of coronary artery disease by using case-control analysis in 1013 coronary artery disease patients and 610 normal controls. 0.4 Polymorphism in miRNA-1 target site and circulating miRNA-1 phenotype are associated with the decreased risk and prognosis of coronary artery disease. NCRV0000002915 26114385 miR-146a rs2910164 G Dominant 3138 coronary artery disease cases and 3097 controls EFO_0000378 N/A Decreasing risk Coronary artery disease rs2910164-G of miR-146a and its dysfunction is significantly associated with the decreasing risk of Coronary artery disease by using meta-analysis in 3138 Coronary artery disease cases and 3097 controls. 0.4 Meta-Analysis of miR-146a Polymorphisms Association with Coronary Artery Diseases and Ischemic Stroke. NCRV0000000439 28271678 miR-499 rs3746444 G Recessive 288 cad patients and 150 control subjects EFO_0000378 N/A Increasing risk Coronary artery disease rs3746444-G of miR-499 and its dysfunction is significantly associated with the increasing risk of coronary artery disease by using case-control analysis in 288 CAD patients and 150 control subjects. 0.4 The pre-mir-499 Variant rs3746444 May Contribute to Coronary Artery Disease Susceptibility: a Case-Control and Meta-Analysis Study. NCRV0000003649 19214202 ANRIL rs1333042 ? Dominant 2201 chd cases, and 1472 controls EFO_0001645 N/A Increasing risk Coronary heart disease rs1333042-? of ANRIL and its dysfunction is significantly associated with the increasing risk of coronary heart disease by using case-control analysis in 2201 CHD cases, and 1472 controls. 0.4 Identification of a shared genetic susceptibility locus for coronary heart disease and periodontitis. NCRV0000002716 19214202 ANRIL rs1333048 ? Dominant 2201 chd cases, and 1472 controls EFO_0001645 N/A Increasing risk Coronary heart disease rs1333048-? of ANRIL and its dysfunction is significantly associated with the increasing risk of coronary heart disease by using case-control analysis in 2201 CHD cases, and 1472 controls. 0.4 Identification of a shared genetic susceptibility locus for coronary heart disease and periodontitis. NCRV0000003693 19214202 ANRIL rs2891168 ? Dominant 2201 chd cases, and 1472 controls EFO_0001645 N/A Increasing risk Coronary heart disease rs2891168-? of ANRIL and its dysfunction is significantly associated with the increasing risk of coronary heart disease by using case-control analysis in 2201 CHD cases, and 1472 controls. 0.4 Identification of a shared genetic susceptibility locus for coronary heart disease and periodontitis. NCRV0000000769 27718165 MIR196A2 rs11614913 T N/a 267 crohn¡¯s disease patients and 298 matched healthy controls EFO_0000384 N/A No significance for risk Crohn¡¯s disease rs11614913-T of MIR196A2 and its dysfunction is not significantly associated with Crohn¡¯s disease by using case-control analysis in 267 Crohn¡¯s disease patients and 298 matched healthy controls. 0.4 Polymorphisms in MIR122, MIR196A2, and MIR124A Genes are Associated with Clinical Phenotypes in Inflammatory Bowel Diseases. NCRV0000003571 27718165 MIR122 rs17669 C N/a 267 crohn¡¯s disease patients and 298 matched healthy controls EFO_0000384 N/A No significance for risk Crohn¡¯s disease rs17669-C of MIR122 and its dysfunction is not significantly associated with Crohn¡¯s disease by using case-control analysis in 267 Crohn¡¯s disease patients and 298 matched healthy controls. 0.4 Polymorphisms in MIR122, MIR196A2, and MIR124A Genes are Associated with Clinical Phenotypes in Inflammatory Bowel Diseases. NCRV0000001471 27718165 MIR146A rs2910164 G N/a 267 crohn¡¯s disease patients and 298 matched healthy controls EFO_0000384 N/A No significance for risk Crohn¡¯s disease rs2910164-G of MIR146A and its dysfunction is not significantly associated with Crohn¡¯s disease by using case-control analysis in 267 Crohn¡¯s disease patients and 298 matched healthy controls. 0.4 Polymorphisms in MIR122, MIR196A2, and MIR124A Genes are Associated with Clinical Phenotypes in Inflammatory Bowel Diseases. NCRV0000002597 27718165 MIR499 rs3746444 G N/a 267 crohn¡¯s disease patients and 298 matched healthy controls EFO_0000384 N/A No significance for risk Crohn¡¯s disease rs3746444-G of MIR499 and its dysfunction is not significantly associated with Crohn¡¯s disease by using case-control analysis in 267 Crohn¡¯s disease patients and 298 matched healthy controls. 0.4 Polymorphisms in MIR122, MIR196A2, and MIR124A Genes are Associated with Clinical Phenotypes in Inflammatory Bowel Diseases. NCRV0000003596 27718165 MIR124A rs531564 C N/a 267 crohn¡¯s disease patients and 298 matched healthy controls EFO_0000384 N/A No significance for risk Crohn¡¯s disease rs531564-C of MIR124A and its dysfunction is not significantly associated with Crohn¡¯s disease by using case-control analysis in 267 Crohn¡¯s disease patients and 298 matched healthy controls. 0.4 Polymorphisms in MIR122, MIR196A2, and MIR124A Genes are Associated with Clinical Phenotypes in Inflammatory Bowel Diseases. NCRV0000000972 23860321 let-7a-2 rs1143770 T N/a 108 dn, 104 dm patients and 62 health control individuals EFO_0000401 N/A Increasing risk Diabetic nephropathy rs1143770-T of let-7a-2 and its dysfunction is significantly associated with the increasing risk of diabetic nephropathy by using case-control analysis in 108 DN, 104 DM patients and 62 health control individuals. 0.4 A potentially functional polymorphism in the regulatory region of let-7a-2 is associated with an increased risk for diabetic nephropathy. NCRV0000003660 26563755 miR-125a rs12976445 T Dominant 282 diabetic nephropathy patients and 312 control patients EFO_0000401 N/A Increasing risk Diabetic nephropathy rs12976445-T of miR-125a and its dysfunction is significantly associated with the increasing risk of Diabetic nephropathy by using case-control analysis in 282 Diabetic nephropathy patients and 312 control patients. By using the disease cell lines or tissues, the mutation of miR-125a has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. Moreover, the ncRNA variation-disease association was validated by complex experiments. 1.4 Rs12976445 Polymorphism is Associated with Risk of Diabetic Nephropathy Through Modulating Expression of MicroRNA-125 and Interleukin-6R. NCRV0000002960 24682535 MIR-128a rs11888095 T N/a 132 type 2 diabetes patients (t2d) analysed for diabetic polyneuropathy (dpn) and 128 t2d patients analysed for cardiovascular autonomic neuropathy (can) EFO_1000783 N/A Increasing risk Diabetic polyneuropathy rs11888095 -T of MIR-128a and its dysfunction is significantly associated with the increasing risk of Diabetic polyneuropathy by using case-control analysis in 132 type 2 diabetes patients (T2D) analysed for Diabetic polyneuropathy (DPN) and 128 T2D patients analysed for cardiovascular autonomic neuropathy (CAN). 0.4 Common polymorphisms in MIR146a, MIR128a and MIR27a genes contribute to neuropathy susceptibility in type 2 diabetes. NCRV0000001979 24682535 MIR-146a rs2910164 C N/a 132 type 2 diabetes patients (t2d) analysed for diabetic polyneuropathy (dpn) and 128 t2d patients analysed for cardiovascular autonomic neuropathy (can) EFO_1000783 N/A Decreasing risk Diabetic polyneuropathy rs2910164 -C of MIR-146a and its dysfunction is significantly associated with the decreasing risk of Diabetic polyneuropathy by using case-control analysis in 132 type 2 diabetes patients (T2D) analysed for Diabetic polyneuropathy (DPN) and 128 T2D patients analysed for cardiovascular autonomic neuropathy (CAN). 0.4 Common polymorphisms in MIR146a, MIR128a and MIR27a genes contribute to neuropathy susceptibility in type 2 diabetes. NCRV0000001238 23342264 miR-142 chr17:56408595 T Dominant 56 dlbcl cases EFO_0000403 N/A Increasing risk Diffuse large b-cell lymphoma chr17:56408595-T of miR-142 and its dysfunction is significantly associated with the increasing risk of diffuse large B-cell lymphoma by using analysis of sequence variation in 56 DLBCL cases. 0.4 MicroRNA-142 is mutated in about 20% of diffuse large B-cell lymphoma. NCRV0000003336 23342264 miR-142 chr17:56408606 C Dominant 56 dlbcl cases EFO_0000403 N/A Increasing risk Diffuse large b-cell lymphoma chr17:56408606-C of miR-142 and its dysfunction is significantly associated with the increasing risk of diffuse large B-cell lymphoma by using analysis of sequence variation in 56 DLBCL cases. 0.4 MicroRNA-142 is mutated in about 20% of diffuse large B-cell lymphoma. NCRV0000000403 23342264 miR-142 chr17:56408613 C Dominant 56 dlbcl cases EFO_0000403 N/A Increasing risk Diffuse large b-cell lymphoma chr17:56408613-C of miR-142 and its dysfunction is significantly associated with the increasing risk of diffuse large B-cell lymphoma by using analysis of sequence variation in 56 DLBCL cases. 0.4 MicroRNA-142 is mutated in about 20% of diffuse large B-cell lymphoma. NCRV0000000271 23342264 miR-142 chr17:56408643 A Dominant 56 dlbcl cases EFO_0000403 N/A Increasing risk Diffuse large b-cell lymphoma chr17:56408643-A of miR-142 and its dysfunction is significantly associated with the increasing risk of diffuse large B-cell lymphoma by using analysis of sequence variation in 56 DLBCL cases. 0.4 MicroRNA-142 is mutated in about 20% of diffuse large B-cell lymphoma. NCRV0000000984 23342264 miR-142 chr17:56408652 A Dominant 56 dlbcl cases EFO_0000403 N/A Increasing risk Diffuse large b-cell lymphoma chr17:56408652-A of miR-142 and its dysfunction is significantly associated with the increasing risk of diffuse large B-cell lymphoma by using analysis of sequence variation in 56 DLBCL cases. 0.4 MicroRNA-142 is mutated in about 20% of diffuse large B-cell lymphoma. NCRV0000000190 23342264 miR-142 chr17:56408658 T Dominant 56 dlbcl cases EFO_0000403 N/A Increasing risk Diffuse large b-cell lymphoma chr17:56408658-T of miR-142 and its dysfunction is significantly associated with the increasing risk of diffuse large B-cell lymphoma by using analysis of sequence variation in 56 DLBCL cases. 0.4 MicroRNA-142 is mutated in about 20% of diffuse large B-cell lymphoma. NCRV0000000904 23342264 miR-142 chr17:56408667 G Dominant 56 dlbcl cases EFO_0000403 N/A Increasing risk Diffuse large b-cell lymphoma chr17:56408667-G of miR-142 and its dysfunction is significantly associated with the increasing risk of diffuse large B-cell lymphoma by using analysis of sequence variation in 56 DLBCL cases. 0.4 MicroRNA-142 is mutated in about 20% of diffuse large B-cell lymphoma. NCRV0000003151 23342264 miR-142 rs1240205037 A Dominant 56 dlbcl cases EFO_0000403 N/A Increasing risk Diffuse large b-cell lymphoma rs1240205037-A of miR-142 and its dysfunction is significantly associated with the increasing risk of diffuse large B-cell lymphoma by using analysis of sequence variation in 56 DLBCL cases. 0.4 MicroRNA-142 is mutated in about 20% of diffuse large B-cell lymphoma. NCRV0000000590 23342264 miR-142 rs529802001 T Dominant 56 dlbcl cases EFO_0000403 N/A Increasing risk Diffuse large b-cell lymphoma rs529802001-T of miR-142 and its dysfunction is significantly associated with the increasing risk of diffuse large B-cell lymphoma by using analysis of sequence variation in 56 DLBCL cases. 0.4 MicroRNA-142 is mutated in about 20% of diffuse large B-cell lymphoma. NCRV0000001795 23342264 miR-142 rs547987105 A Dominant 56 dlbcl cases EFO_0000403 N/A Increasing risk Diffuse large b-cell lymphoma rs547987105-A of miR-142 and its dysfunction is significantly associated with the increasing risk of diffuse large B-cell lymphoma by using analysis of sequence variation in 56 DLBCL cases. 0.4 MicroRNA-142 is mutated in about 20% of diffuse large B-cell lymphoma. NCRV0000003798 23342264 miR-142 rs756348475 G Dominant 56 dlbcl cases EFO_0000403 N/A Increasing risk Diffuse large b-cell lymphoma rs756348475-G of miR-142 and its dysfunction is significantly associated with the increasing risk of diffuse large B-cell lymphoma by using analysis of sequence variation in 56 DLBCL cases. 0.4 MicroRNA-142 is mutated in about 20% of diffuse large B-cell lymphoma. NCRV0000003798 23342264 miR-142 rs756348475 T Dominant 56 dlbcl cases EFO_0000403 N/A Increasing risk Diffuse large b-cell lymphoma rs756348475-T of miR-142 and its dysfunction is significantly associated with the increasing risk of diffuse large B-cell lymphoma by using analysis of sequence variation in 56 DLBCL cases. 0.4 MicroRNA-142 is mutated in about 20% of diffuse large B-cell lymphoma. NCRV0000003950 23342264 miR-142 rs772570355 T Dominant 56 dlbcl cases EFO_0000403 N/A Increasing risk Diffuse large b-cell lymphoma rs772570355-T of miR-142 and its dysfunction is significantly associated with the increasing risk of diffuse large B-cell lymphoma by using analysis of sequence variation in 56 DLBCL cases. 0.4 MicroRNA-142 is mutated in about 20% of diffuse large B-cell lymphoma. NCRV0000003726 23342264 miR-142 rs867010562 A Dominant 56 dlbcl cases EFO_0000403 N/A Increasing risk Diffuse large b-cell lymphoma rs867010562-A of miR-142 and its dysfunction is significantly associated with the increasing risk of diffuse large B-cell lymphoma by using analysis of sequence variation in 56 DLBCL cases. 0.4 MicroRNA-142 is mutated in about 20% of diffuse large B-cell lymphoma. NCRV0000003715 28404885 H19 rs2839698 A Dominant 33,209 participants EFO_1000218 N/A Increasing risk Digestive cancer rs2839698-A of H19 and its dysfunction is significantly associated with the increasing risk of digestive cancer by using meta-analysis in 33,209 participants. 0.4 Significant association between lncRNA H19 polymorphisms and cancer susceptibility: a meta-analysis. NCRV0000001855 27010768 HOTAIR rs920778 T N/a 7,151 cases and 8,740 controls EFO_1000218 N/A Increased risk and poor prognosis Digestive cancers rs920778-T of HOTAIR and its dysfunction is significantly associated with the increasing risk and poor prognosis of digestive cancers by using meta-analysis in 7,151 cases and 8,740 controls. 0.4 Quantitative Assessment of the Polymorphisms in the HOTAIR lncRNA and Cancer Risk: A Meta-Analysis of 8 Case-Control Studies. NCRV0000002795 25655103 miR-27a rs895819 G Dominant 514 patients with cancer receiving fluoropyrimidine-based chemotherapy EFO_0000311 N/A Decreasing risk Early-onset fluoropyrimidine toxicity in cancer patients without dpyd risk variants rs895819-G of miR-27a and its dysfunction is significantly associated with the decreasing risk of early-onset fluoropyrimidine toxicity in cancer patients without DPYD risk variants by using analysis of sequence variation in 514 patients with cancer receiving fluoropyrimidine-based chemotherapy. 0.4 Polymorphisms in MIR27A Associated with Early-Onset Toxicity in Fluoropyrimidine-Based Chemotherapy. NCRV0000001761 22307873 let-7 rs61764370 ? N/a 150 women with endometriosis EFO_0001065 N/A Increasing risk Endometriosis rs61764370-? of let-7 and its dysfunction is significantly associated with the increasing risk of endometriosis by using analysis of sequence variation in 150 women with endometriosis. By using the disease cell lines or tissues, the interference and mutation of let-7 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. Moreover, the ncRNA variation-disease association was validated by complex experiments. 1.4 A polymorphism in a let-7 microRNA binding site of KRAS in women with endometriosis. NCRV0000002976 27741504 miR-196a2 rs11614913 C Dominant 218 endometriosis patients and 202 healthy women age-matched controls EFO_0001065 N/A Increasing risk Endometriosis rs11614913-C of miR-196a2 and its dysfunction is significantly associated with the increasing risk of endometriosis by using case-control analysis in 218 endometriosis patients and 202 healthy women age-matched controls. 0.4 Up-regulation of ribosome biogenesis by MIR196A2 genetic variation promotes endometriosis development and progression. NCRV0000002615 27741504 miR-100 rs1834306 A Recessive 218 endometriosis patients and 202 healthy women age-matched controls EFO_0001065 N/A Increasing risk Endometriosis rs1834306-A of miR-100 and its dysfunction is significantly associated with the increasing risk of endometriosis by using case-control analysis in 218 endometriosis patients and 202 healthy women age-matched controls. 0.4 Up-regulation of ribosome biogenesis by MIR196A2 genetic variation promotes endometriosis development and progression. NCRV0000000823 27741504 miR-146a rs2910164 G N/a 218 endometriosis patients and 202 healthy women age-matched controls EFO_0001065 N/A No significance for risk Endometriosis rs2910164-G of miR-146a and its dysfunction is not significantly associated with endometriosis by using case-control analysis in 218 endometriosis patients and 202 healthy women age-matched controls. 0.4 Up-regulation of ribosome biogenesis by MIR196A2 genetic variation promotes endometriosis development and progression. NCRV0000002697 27741504 miR-499 rs3746444 C N/a 218 endometriosis patients and 202 healthy women age-matched controls EFO_0001065 N/A No significance for risk Endometriosis rs3746444-C of miR-499 and its dysfunction is not significantly associated with endometriosis by using case-control analysis in 218 endometriosis patients and 202 healthy women age-matched controls. 0.4 Up-regulation of ribosome biogenesis by MIR196A2 genetic variation promotes endometriosis development and progression. NCRV0000003134 27741504 miR-423 rs6505162 A N/a 218 endometriosis patients and 202 healthy women age-matched controls EFO_0001065 N/A No significance for risk Endometriosis rs6505162-A of miR-423 and its dysfunction is not significantly associated with endometriosis by using case-control analysis in 218 endometriosis patients and 202 healthy women age-matched controls. 0.4 Up-regulation of ribosome biogenesis by MIR196A2 genetic variation promotes endometriosis development and progression. NCRV0000001584 27741504 miR-26a1 rs7372209 T N/a 218 endometriosis patients and 202 healthy women age-matched controls EFO_0001065 N/A Increasing risk Endometriosis rs7372209-T of miR-26a1 and its dysfunction is significantly associated with the increasing risk of endometriosis by using case-control analysis in 218 endometriosis patients and 202 healthy women age-matched controls. 0.4 Up-regulation of ribosome biogenesis by MIR196A2 genetic variation promotes endometriosis development and progression. NCRV0000001817 27741504 miR-27a rs895819 C N/a 218 endometriosis patients and 202 healthy women age-matched controls EFO_0001065 N/A No significance for risk Endometriosis rs895819-C of miR-27a and its dysfunction is not significantly associated with endometriosis by using case-control analysis in 218 endometriosis patients and 202 healthy women age-matched controls. 0.4 Up-regulation of ribosome biogenesis by MIR196A2 genetic variation promotes endometriosis development and progression. NCRV0000000883 28277133 mir-126 rs4636297 A Dominant 157 endometriosis patients and 252 healthy women EFO_0001065 N/A Decreased risk and better prognosis Endometriosis rs4636297-A of mir-126 and its dysfunction is significantly associated with the decreasing risk and better prognosis of endometriosis by using case-control analysis in 157 endometriosis patients and 252 healthy women. 0.4 mir-126 rs4636297 and TGFbetaRI rs334348 functional gene variants are associated with susceptibility to endometriosis and its severity. NCRV0000000103 22131394 miR-184 chr15:79502186 T Dominant 10 individuals affected by syndromal anterior segment dysgenesis Orphanet_293936 N/A Increasing risk Endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning (edict syndrome) chr15:79502186-T of miR-184 and its dysfunction is significantly associated with the increasing risk of endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning (EDICT syndrome) by using analysis of sequence variation in 10 individuals affected by syndromal anterior segment dysgenesis. 0.4 A single-base substitution in the seed region of miR-184 causes EDICT syndrome. NCRV0000002296 24978643 MIR196A2 rs11614913 C Recessive 350 esrd patients and 350 age-matched, sex-matched, and ethnically matched controls. EFO_0003086 N/A Increasing risk End-stage renal disease rs11614913-C of MIR196A2 and its dysfunction is significantly associated with the increasing risk of end-stage renal disease by using case-control analysis in 350 ESRD patients and 350 age-matched, sex-matched, and ethnically matched controls 0.4 Genetic variants of MicroRNA-related genes in susceptibility and prognosis of end-stage renal disease and renal allograft outcome among north Indians. NCRV0000002811 24978643 MIR149 rs2292832 C N/a 350 esrd patients and 350 age-matched, sex-matched, and ethnically matched controls. EFO_0003086 N/A No significance for risk End-stage renal disease rs2292832-C of MIR149 and its dysfunction is not significantly associated with end-stage renal disease by using case-control analysis in 350 ESRD patients and 350 age-matched, sex-matched, and ethnically matched controls 0.4 Genetic variants of MicroRNA-related genes in susceptibility and prognosis of end-stage renal disease and renal allograft outcome among north Indians. NCRV0000001672 24978643 MIR146A rs2910164 G Dominant 350 esrd patients and 350 age-matched, sex-matched, and ethnically matched controls. EFO_0003086 N/A Increasing risk End-stage renal disease rs2910164-G of MIR146A and its dysfunction is significantly associated with the increasing risk of end-stage renal disease by using case-control analysis in 350 ESRD patients and 350 age-matched, sex-matched, and ethnically matched controls 0.4 Genetic variants of MicroRNA-related genes in susceptibility and prognosis of end-stage renal disease and renal allograft outcome among north Indians. NCRV0000003409 24978643 MIR499A rs3746444 G Dominant 350 esrd patients and 350 age-matched, sex-matched, and ethnically matched controls. EFO_0003086 N/A Increasing risk End-stage renal disease rs3746444-G of MIR499A and its dysfunction is significantly associated with the increasing risk of end-stage renal disease by using case-control analysis in 350 ESRD patients and 350 age-matched, sex-matched, and ethnically matched controls 0.4 Genetic variants of MicroRNA-related genes in susceptibility and prognosis of end-stage renal disease and renal allograft outcome among north Indians. NCRV0000003406 25891929 miR-146a rs2910164 C N/a 249 epilepsy patients and 249 healthy controls in two regions of china. EFO_0000474 N/A No significance for risk Epilepsy rs2910164-C of miR-146a and its dysfunction is not significantly associated with epilepsy by using case-control analysis in 249 epilepsy patients and 249 healthy controls in two regions of China. . 0.4 A functional polymorphism of the microRNA-146a gene is associated with susceptibility to drug-resistant epilepsy and seizures frequency. NCRV0000002009 25891929 miR-146a rs57095329 G Dominant 249 epilepsy patients and 249 healthy controls in two regions of china. EFO_0000474 N/A Poor prognosis Epilepsy rs57095329-G of miR-146a and its dysfunction is significantly associated with the poor prognosis of epilepsy by using case-control analysis in 249 epilepsy patients and 249 healthy controls in two regions of China. . 0.4 A functional polymorphism of the microRNA-146a gene is associated with susceptibility to drug-resistant epilepsy and seizures frequency. NCRV0000000285 19138993 mir196a-2 rs11614913 T Dominant 346 caucasian esophageal cancer patients (85.5% with esophageal adenocarcinoma) and 346 frequency-matched (age, gender, and ethnicity) controls EFO_0002916 N/A Increasing risk Esophageal cancer rs11614913-T of mir196a-2 and its dysfunction is significantly associated with the increasing risk of esophageal cancer by using case-control analysis in 346 Caucasian esophageal cancer patients (85.5% with esophageal adenocarcinoma) and 346 frequency-matched (age, gender, and ethnicity) controls. 0.4 Genetic variations in microRNA-related genes are novel susceptibility loci for esophageal cancer risk. NCRV0000002712 19138993 mir124-1 rs531564 G Dominant 346 caucasian esophageal cancer patients (85.5% with esophageal adenocarcinoma) and 346 frequency-matched (age, gender, and ethnicity) controls EFO_0002916 N/A Increasing risk Esophageal cancer rs531564-G of mir124-1 and its dysfunction is significantly associated with the increasing risk of esophageal cancer by using case-control analysis in 346 Caucasian esophageal cancer patients (85.5% with esophageal adenocarcinoma) and 346 frequency-matched (age, gender, and ethnicity) controls. 0.4 Genetic variations in microRNA-related genes are novel susceptibility loci for esophageal cancer risk. NCRV0000000881 19138993 mir631 rs5745925 delCT Dominant 346 caucasian esophageal cancer patients (85.5% with esophageal adenocarcinoma) and 346 frequency-matched (age, gender, and ethnicity) controls EFO_0002916 N/A Increasing risk Esophageal cancer rs5745925-delCT of mir631 and its dysfunction is significantly associated with the increasing risk of esophageal cancer by using case-control analysis in 346 Caucasian esophageal cancer patients (85.5% with esophageal adenocarcinoma) and 346 frequency-matched (age, gender, and ethnicity) controls. 0.4 Genetic variations in microRNA-related genes are novel susceptibility loci for esophageal cancer risk. NCRV0000003335 19138993 pre-mir423 rs6505162 A Dominant 346 caucasian esophageal cancer patients (85.5% with esophageal adenocarcinoma) and 346 frequency-matched (age, gender, and ethnicity) controls EFO_0002916 N/A Decreasing risk Esophageal cancer rs6505162-A of pre-mir423 and its dysfunction is significantly associated with the decreasing risk of esophageal cancer by using case-control analysis in 346 Caucasian esophageal cancer patients (85.5% with esophageal adenocarcinoma) and 346 frequency-matched (age, gender, and ethnicity) controls. 0.4 Genetic variations in microRNA-related genes are novel susceptibility loci for esophageal cancer risk. NCRV0000000285 27342110 miR-196a2 rs11614913 T Dominant 230 cancer patients (including 17 types of cancer), 26 patients with pre-cancer lesions, and 100 unrelated controls. EFO_0002916 N/A Increasing risk Esophageal cancer rs11614913-T of miR-196a2 and its dysfunction is significantly associated with the increasing risk of esophageal cancer by using case-control analysis in 230 cancer patients (including 17 types of cancer), 26 patients with pre-cancer lesions, and 100 unrelated controls. . 0.4 MicroRNA-196a2 Biomarker and Targetome Network Analysis in Solid Tumors. NCRV0000001823 20680470 has-miR-146a rs2910164 G N/a 444 sporadic escc patients and 468 matched cancer-free controls EFO_0005922 N/A Increasing risk Esophageal squamous cell carcinom rs2910164-G of has-miR-146a and its dysfunction is significantly associated with the increasing risk of esophageal squamous cell carcinom by using case-control analysis in 444 sporadic ESCC patients and 468 matched cancer-free controls. 0.4 A functional varient in microRNA-146a is associated with risk of esophageal squamous cell carcinoma in Chinese Han. NCRV0000000050 20722507 miRNA-196a rs11614913 C N/a 458 escc cases and 489 cancer-free controls EFO_0005922 N/A Increasing risk Esophageal squamous cell carcinoma rs11614913-C of miRNA-196a and its dysfunction is significantly associated with the increasing risk of esophageal squamous cell carcinoma by using case-control analysis in 458 ESCC cases and 489 cancer-free controls. 0.4 A functional variation in pre-microRNA-196a is associated with susceptibility of esophageal squamous cell carcinoma risk in Chinese Han. NCRV0000000987 24770678 mir-608 rs4919510 C Dominant 504 patients with escc EFO_0005922 N/A Better prognosis Esophageal squamous cell carcinoma rs4919510-C of mir-608 and its dysfunction is significantly associated with the better prognosis of esophageal squamous cell carcinoma by using analysis of sequence variation in 504 patients with ESCC. 0.4 Association of miRNA-related genetic polymorphisms and prognosis in patients with esophageal squamous cell carcinoma. NCRV0000000680 24788237 HOTAIR rs920778 T N/a 2098 esophageal squamous cell carcinoma patients and 2150 controls EFO_0005922 N/A Increasing risk Esophageal squamous cell carcinoma rs920778-T of HOTAIR and its dysfunction is significantly associated with the increasing risk of esophageal squamous cell carcinoma by using case-control analysis in 2098 esophageal squamous cell carcinoma patients and 2150 controls. By using the disease cell lines or tissues, the mutation of HOTAIR has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 The identification of an ESCC susceptibility SNP rs920778 that regulates the expression of lncRNA HOTAIR via a novel intronic enhancer. NCRV0000000050 24916311 microRNA-196a-2 rs11614913 T Recessive 381 patients with esophageal squamous cell carcinoma (escc) and 426 gender, age-matched controls EFO_0005922 N/A Decreasing risk Esophageal squamous cell carcinoma rs11614913-T of microRNA-196a-2 and its dysfunction is significantly associated with the decreasing risk of esophageal squamous cell carcinoma by using case-control analysis in 381 patients with esophageal squamous cell carcinoma (ESCC) and 426 gender, age-matched controls . 0.4 MicroRNAs related polymorphisms and genetic susceptibility to esophageal squamous cell carcinoma. NCRV0000001823 24916311 miR-146a rs2910164 G N/a 381 patients with esophageal squamous cell carcinoma (escc) and 426 gender, age-matched controls EFO_0005922 N/A No significance for risk Esophageal squamous cell carcinoma rs2910164-G of miR-146a and its dysfunction is not significantly associated with esophageal squamous cell carcinoma by using case-control analysis in 381 patients with esophageal squamous cell carcinoma (ESCC) and 426 gender, age-matched controls . 0.4 MicroRNAs related polymorphisms and genetic susceptibility to esophageal squamous cell carcinoma. NCRV0000001268 25337271 miR-218 rs11134527 G Recessive 706 pathologically confirmed escc patients and 745 controls EFO_0005922 N/A Decreased risk and better prognosis Esophageal squamous cell carcinoma rs11134527-G of miR-218 and its dysfunction is significantly associated with the decreasing risk and better prognosis of esophageal squamous cell carcinoma by using case-control analysis in 706 pathologically confirmed ESCC patients and 745 controls. 0.4 The impact of pri-miR-218 rs11134527 on the risk and prognosis of patients with esophageal squamous cell carcinoma. NCRV0000001923 26261633 miR373 rs12983273 T N/a 248 kazakh patients with escc and 300 frequency matched control subjects EFO_0005922 N/A No significance for risk Esophageal squamous cell carcinoma rs12983273-T of miR373 and its dysfunction is not significantly associated with esophageal squamous cell carcinoma by using case-control analysis in 248 Kazakh patients with ESCC and 300 frequency matched control subjects. 0.4 Genetic variation in miR-100 rs1834306 is associated with decreased risk for esophageal squamous cell carcinoma in Kazakh patients in northwest China. NCRV0000001249 26261633 miR100 rs1834306 C Recessive 248 kazakh patients with escc and 300 frequency matched control subjects EFO_0005922 N/A Decreasing risk Esophageal squamous cell carcinoma rs1834306-C of miR100 and its dysfunction is significantly associated with the decreasing risk of esophageal squamous cell carcinoma by using case-control analysis in 248 Kazakh patients with ESCC and 300 frequency matched control subjects. 0.4 Genetic variation in miR-100 rs1834306 is associated with decreased risk for esophageal squamous cell carcinoma in Kazakh patients in northwest China. NCRV0000001823 26261633 miR146a rs2910164 C N/a 248 kazakh patients with escc and 300 frequency matched control subjects EFO_0005922 N/A No significance for risk Esophageal squamous cell carcinoma rs2910164-C of miR146a and its dysfunction is not significantly associated with esophageal squamous cell carcinoma by using case-control analysis in 248 Kazakh patients with ESCC and 300 frequency matched control subjects. 0.4 Genetic variation in miR-100 rs1834306 is associated with decreased risk for esophageal squamous cell carcinoma in Kazakh patients in northwest China. NCRV0000000173 26261633 miR34b/c rs4938723 C N/a 248 kazakh patients with escc and 300 frequency matched control subjects EFO_0005922 N/A No significance for risk Esophageal squamous cell carcinoma rs4938723-C of miR34b/c and its dysfunction is not significantly associated with esophageal squamous cell carcinoma by using case-control analysis in 248 Kazakh patients with ESCC and 300 frequency matched control subjects. 0.4 Genetic variation in miR-100 rs1834306 is associated with decreased risk for esophageal squamous cell carcinoma in Kazakh patients in northwest China. NCRV0000000152 26261633 miR423 rs6505162 A N/a 248 kazakh patients with escc and 300 frequency matched control subjects EFO_0005922 N/A No significance for risk Esophageal squamous cell carcinoma rs6505162-A of miR423 and its dysfunction is not significantly associated with esophageal squamous cell carcinoma by using case-control analysis in 248 Kazakh patients with ESCC and 300 frequency matched control subjects. 0.4 Genetic variation in miR-100 rs1834306 is associated with decreased risk for esophageal squamous cell carcinoma in Kazakh patients in northwest China. NCRV0000002905 26261633 miR375 rs6715345 C N/a 248 kazakh patients with escc and 300 frequency matched control subjects EFO_0005922 N/A No significance for risk Esophageal squamous cell carcinoma rs6715345-C of miR375 and its dysfunction is not significantly associated with esophageal squamous cell carcinoma by using case-control analysis in 248 Kazakh patients with ESCC and 300 frequency matched control subjects. 0.4 Genetic variation in miR-100 rs1834306 is associated with decreased risk for esophageal squamous cell carcinoma in Kazakh patients in northwest China. NCRV0000002707 26379361 miR219-1 rs107822 A Recessive 248 kazakh esophageal squamous cell carcinoma (escc) cases and 300 frequency-matched control subjects EFO_0005922 N/A Decreasing risk Esophageal squamous cell carcinoma rs107822-A of miR219-1 and its dysfunction is significantly associated with the decreasing risk of esophageal squamous cell carcinoma by using case-control analysis in 248 Kazakh esophageal squamous cell carcinoma (ESCC) cases and 300 frequency-matched control subjects. 0.4 A Genetic Variant in miRNA-219-1 Is Associated with Risk of Esophageal Squamous Cell Carcinoma in Chinese Kazakhs. NCRV0000001387 26379361 miR219-1 rs213210 C N/a 248 kazakh esophageal squamous cell carcinoma (escc) cases and 300 frequency-matched control subjects EFO_0005922 N/A No significance for risk Esophageal squamous cell carcinoma rs213210-C of miR219-1 and its dysfunction is not significantly associated with esophageal squamous cell carcinoma by using case-control analysis in 248 Kazakh esophageal squamous cell carcinoma (ESCC) cases and 300 frequency-matched control subjects. 0.4 A Genetic Variant in miRNA-219-1 Is Associated with Risk of Esophageal Squamous Cell Carcinoma in Chinese Kazakhs. NCRV0000001173 27583835 lincRNA-NR_024015 rs8506 A N/a 581 escc cases and 677 healthy controls EFO_0005922 N/A Increasing risk Esophageal squamous cell carcinoma rs8506-A of lincRNA-NR_024015 and its dysfunction is significantly associated with the increasing risk of esophageal squamous cell carcinoma by using case-control analysis in 581 ESCC cases and 677 healthy controls. By using the disease cell lines or tissues, the mutation of lincRNA-NR_024015 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 A genetic polymorphism at miR-526b binding-site in the lincRNA-NR_024015 exon confers risk of esophageal squamous cell carcinoma in a population of North China. NCRV0000001387 24205249 miR-219-1 rs213210 G N/a In the black ancestry group, 368 cases and 583 controls were recruited, whereas 197 cases and 420 controls were of mixed ancestry. EFO_0005922 N/A Decreasing risk Esophageal squamous cell carcinoma rs213210-G of miR-219-1 and its dysfunction is significantly associated with the decreasing risk of esophageal squamous cell carcinoma by using case-control analysis in In the Black ancestry group, 368 cases and 583 controls were recruited, whereas 197 cases and 420 controls were of Mixed Ancestry. . 0.4 MicroRNA polymorphisms and environmental smoke exposure as risk factors for oesophageal squamous cell carcinoma. NCRV0000000152 24205249 miR-423 rs6505162 C Dominant In the black ancestry group, 368 cases and 583 controls were recruited, whereas 197 cases and 420 controls were of mixed ancestry. EFO_0005922 N/A Increasing risk Esophageal squamous cell carcinoma rs6505162-C of miR-423 and its dysfunction is significantly associated with the increasing risk of esophageal squamous cell carcinoma by using case-control analysis in In the Black ancestry group, 368 cases and 583 controls were recruited, whereas 197 cases and 420 controls were of Mixed Ancestry. . By using the disease cell lines or tissues, the mutation of miR-423 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 MicroRNA polymorphisms and environmental smoke exposure as risk factors for oesophageal squamous cell carcinoma. NCRV0000000100 24205249 miR-26A-1 rs7372209 T Dominant In the black ancestry group, 368 cases and 583 controls were recruited, whereas 197 cases and 420 controls were of mixed ancestry. EFO_0005922 N/A Decreasing risk Esophageal squamous cell carcinoma rs7372209-T of miR-26A-1 and its dysfunction is significantly associated with the decreasing risk of esophageal squamous cell carcinoma by using case-control analysis in In the Black ancestry group, 368 cases and 583 controls were recruited, whereas 197 cases and 420 controls were of Mixed Ancestry. . 0.4 MicroRNA polymorphisms and environmental smoke exposure as risk factors for oesophageal squamous cell carcinoma. NCRV0000000050 24320161 miR-196a2 rs11614913 T N/a 597 esophageal squamous cell carcinoma patients and 597 control subjects EFO_0005922 N/A Increasing risk Esophageal squamous cell carcinomas in individuals under 60 years old rs11614913-T of miR-196a2 and its dysfunction is significantly associated with the increasing risk of esophageal squamous cell carcinomas in individuals under 60 years old by using case-control analysis in 597 esophageal squamous cell carcinoma patients and 597 control subjects. 0.4 Hsa-miR-196a2 functional SNP is associated with the risk of ESCC in individuals under 60 years old. NCRV0000003342 23497314 MIR133A2 chr20:61162197 C Dominant 120 individuals with familial atrial fibrillation Orphanet_334 N/A Increasing risk Familial atrial fibrillation chr20:61162197-C of MIR133A2 and its dysfunction is significantly associated with the increasing risk of familial atrial fibrillation by using analysis of sequence variation in 120 individuals with familial atrial fibrillation. By using the disease cell lines or tissues, the mutation of MIR133A2 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 A heterozygous variant in the human cardiac miR-133 gene, MIR133A2, alters miRNA duplex processing and strand abundance. NCRV0000002461 18660546 miR-146a rs2910164 C Dominant 42 patients with familial breast cancer Orphanet_227535 N/A Increasing risk Familial breast cancer rs2910164-C of miR-146a and its dysfunction is significantly associated with the increasing risk of familial breast cancer by using analysis of sequence variation in 42 patients with familial breast cancer. By using the disease cell lines or tissues, the mutation of miR-146a has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 A functional polymorphism in the miR-146a gene and age of familial breast/ovarian cancer diagnosis. NCRV0000002461 20810544 miRNA-146a rs2910164 C N/a 101 italian probands with ascertained familiarity for breast/ovarian cancer and tested negative for both brca1 and brca2 gene mutations and 155 controls Orphanet_227535 N/A Increasing risk Familial breast cancer rs2910164 -C of miRNA-146a and its dysfunction is significantly associated with the increasing risk of familial breast cancer by using case-control analysis in 101 Italian probands with ascertained familiarity for breast/ovarian cancer and tested negative for both BRCA1 and BRCA2 gene mutations and 155 controls. 0.4 Association between hsa-mir-146a genotype and tumor age-of-onset in BRCA1/BRCA2-negative familial breast and ovarian cancer patients. NCRV0000000103 21996275 miR-184 chr15:79502186 T Dominant Familial keratoconus with cataract Orphanet_293936 N/A Increasing risk Familial keratoconus with cataract chr15:79502186-T of miR-184 and its dysfunction is significantly associated with the increasing risk of familial keratoconus with cataract by using Pedigree analysis in familial keratoconus with cataract. By using the disease cell lines or tissues, the interference and mutation of miR-184 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Mutation altering the miR-184 seed region causes familial keratoconus with cataract. NCRV0000003957 18660546 miR-146a rs2910164 C Dominant 82 patients with familial ovarian cancer Orphanet_213517 N/A Increasing risk Familial ovarian cancer rs2910164-C of miR-146a and its dysfunction is significantly associated with the increasing risk of familial ovarian cancer by using analysis of sequence variation in 82 patients with familial ovarian cancer. By using the disease cell lines or tissues, the mutation of miR-146a has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 A functional polymorphism in the miR-146a gene and age of familial breast/ovarian cancer diagnosis. NCRV0000002949 20167074 miR-191 rs1283868099 A Dominant 83 non-related probands from families with inherited ovarian cancer Orphanet_213517 N/A Increasing risk Familial ovarian cancer rs1283868099-A of miR-191 and its dysfunction is significantly associated with the increasing risk of familial ovarian cancer by using analysis of sequence variation in 83 non-related probands from families with inherited ovarian cancer. 0.4 Novel genetic variants in miR-191 gene and familial ovarian cancer. NCRV0000003957 20810544 miRNA-146a rs2910164 C N/a 101 italian probands with ascertained familiarity for breast/ovarian cancer and tested negative for both brca1 and brca2 gene mutations and 155 controls Orphanet_213517 N/A Increasing risk Familial ovarian cancer rs2910164 -C of miRNA-146a and its dysfunction is significantly associated with the increasing risk of familial ovarian cancer by using case-control analysis in 101 Italian probands with ascertained familiarity for breast/ovarian cancer and tested negative for both BRCA1 and BRCA2 gene mutations and 155 controls. 0.4 Association between hsa-mir-146a genotype and tumor age-of-onset in BRCA1/BRCA2-negative familial breast and ovarian cancer patients. NCRV0000000301 25256095 miR-4513 rs2168518 A Dominant Fasting glucose, low-density lipoprotein-cholesterol, total cholesterol, systolic and diastolic blood pressure, and risk of coronary artery disease EFO_0000378 N/A Increasing risk Fasting glucose, low-density lipoprotein-cholesterol, total cholesterol, systolic and diastolic blood pressure, and risk of coronary artery disease rs2168518-A of miR-4513 and its dysfunction is significantly associated with the increasing risk of fasting glucose, low-density lipoprotein-cholesterol, total cholesterol, systolic and diastolic blood pressure, and risk of coronary artery disease by using case-control analysis in fasting glucose, low-density lipoprotein-cholesterol, total cholesterol, systolic and diastolic blood pressure, and risk of coronary artery disease. By using the disease cell lines or tissues, the mutation of miR-4513 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 A genetic variant in the seed region of miR-4513 shows pleiotropic effects on lipid and glucose homeostasis, blood pressure, and coronary artery disease. NCRV0000001851 29361163 RP11-679B19.1 rs11861007 A N/a 322 crohn's diseas cases with fibrostenotis [recurrent after surgery] and 619 cases with purely inflammatory crohn's diseas EFO_0000384 N/A Increasing risk Fibrostenotic crohn's diseas rs11861007-A of RP11-679B19.1 and its dysfunction is significantly associated with the increasing risk of Fibrostenotic Crohn's Diseas by using genome-wide association analysis in 322 Crohn's diseas cases with fibrostenotis [recurrent after surgery] and 619 cases with purely inflammatory Crohn's diseas. By using the disease cell lines or tissues, the mutation of RP11-679B19.1 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Genomic and Expression Analyses Identify a Disease-Modifying Variant for Fibrostenotic Crohn's Disease. NCRV0000002568 24503492 miR-618 rs2682818 T N/a 455 cases and 527 controls DOID_0050873 N/A Increasing risk Follicular lymphoma rs2682818-T of miR-618 and its dysfunction is significantly associated with the increasing risk of follicular lymphoma by using case-control analysis in 455 cases and 527 controls. By using the disease cell lines or tissues, the interference and mutation of miR-618 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Targetome profiling and functional genetics implicate miR-618 in lymphomagenesis. NCRV0000000008 29495389 miR-146a-3p rs2910164 C Recessive 2441 patients (2163 women; 278 men); including 359 cases with follicular variant of papillary thyroid carcinoma (fvptc) EFO_1000261 N/A Poor prognosis Follicular variant papillary thyroid carcinoma rs2910164-C of miR-146a-3p and its dysfunction is significantly associated with the poor prognosis of Follicular Variant Papillary Thyroid Carcinoma by using case-control analysis in 2441 patients (2163 women; 278 men); including 359 cases with follicular variant of papillary thyroid carcinoma (fvPTC). By using the disease cell lines or tissues, the interference and mutation of miR-146a-3p has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 The rs2910164 Genetic Variant of miR-146a-3p Is Associated with Increased Overall Mortality in Patients with Follicular Variant Papillary Thyroid Carcinoma.LID - E655 [pii]LID - 10.3390/ijms19030655 [doi]AB - Aberrant expression of the sodium-i NCRV0000003064 22778062 SNORD49B rs11871958 C N/a N/a function N/A Significant changes in the structure Function rs11871958-C of SNORD49B and its dysfunction having significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000001821 22778062 SNORD115-14 rs72546351 A N/a N/a function N/A Significant changes in the structure Function rs72546351-A of SNORD115-14 and its dysfunction having significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000002133 22778062 SNORD114-7 rs72700530 C N/a N/a function N/A Significant changes in the structure Function rs72700530-C of SNORD114-7 and its dysfunction having significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000003645 22778062 SNORA37 rs73483657 C N/a N/a function N/A Significant changes in the structure Function rs73483657-C of SNORA37 and its dysfunction having significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000002797 22778062 SNORD114-4 rs77545594 G N/a N/a function N/A Significant changes in the structure Function rs77545594-G of SNORD114-4 and its dysfunction having significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000000089 22778062 SNORD8 rs78204860 G N/a N/a function N/A Significant changes in the structure Function rs78204860-G of SNORD8 and its dysfunction having significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000002292 22778062 SNORD115-15 rs72546352 C N/a N/a function N/A Not significant changes in the structure Function rs72546352-C of SNORD115-15 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000001664 22778062 SNORD115-4 rs72546369 A N/a N/a function N/A Not significant changes in the structure Function rs72546369-A of SNORD115-4 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000003980 22778062 SNORD70 rs12463892 G N/a N/a function N/A Not significant changes in the structure Function rs12463892-G of SNORD70 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000002331 22778062 SNORD114-15 rs77762832 T N/a N/a function N/A Not significant changes in the structure Function rs77762832-T of SNORD114-15 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000002172 22778062 SNORD108 rs75793510 G N/a N/a function N/A Not significant changes in the structure Function rs75793510-G of SNORD108 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000002619 22778062 SNORD115-8 rs72546375 G N/a N/a function N/A Not significant changes in the structure Function rs72546375-G of SNORD115-8 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000001257 22778062 SNORD114-3 rs79074703 T N/a N/a function N/A Not significant changes in the structure Function rs79074703-T of SNORD114-3 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000002140 22778062 SNORD115-21 rs72546356 C N/a N/a function N/A Not significant changes in the structure Function rs72546356-C of SNORD115-21 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000001134 22778062 SNORD65 rs4622550 C N/a N/a function N/A Not significant changes in the structure Function rs4622550-C of SNORD65 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000000388 22778062 SNORD114-15 rs80087345 T N/a N/a function N/A Not significant changes in the structure Function rs80087345-T of SNORD114-15 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000003206 22778062 SNORA44 rs16837624 C N/a N/a function N/A Not significant changes in the structure Function rs16837624-C of SNORA44 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000002444 22778062 SNORD115-6 rs28522423 T N/a N/a function N/A Not significant changes in the structure Function rs28522423-T of SNORD115-6 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000003834 22778062 SNORA29 rs3818299 G N/a N/a function N/A Not significant changes in the structure Function rs3818299-G of SNORA29 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000003685 22778062 SNORD98 rs41278526 A N/a N/a function N/A Not significant changes in the structure Function rs41278526-A of SNORD98 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000002700 22778062 SNORD109B rs34377998 G N/a N/a function N/A Not significant changes in the structure Function rs34377998-G of SNORD109B and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000003613 22778062 SNORD9 rs1998332 T N/a N/a function N/A Not significant changes in the structure Function rs1998332-T of SNORD9 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000001924 22778062 SNORA34 rs78019883 G N/a N/a function N/A Not significant changes in the structure Function rs78019883-G of SNORA34 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000001321 22778062 SNORD65 rs4617905 C N/a N/a function N/A Not significant changes in the structure Function rs4617905-C of SNORD65 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000001476 22778062 SNORD110 rs73611742 G N/a N/a function N/A Not significant changes in the structure Function rs73611742-G of SNORD110 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000001862 22778062 SNORD114-18 rs12893444 G N/a N/a function N/A Not significant changes in the structure Function rs12893444-G of SNORD114-18 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000002048 22778062 SNORD115-25 rs56227008 A N/a N/a function N/A Not significant changes in the structure Function rs56227008-A of SNORD115-25 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000002427 22778062 SNORD114-16 rs11844771 T N/a N/a function N/A Not significant changes in the structure Function rs11844771-T of SNORD114-16 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000003853 22778062 SNORA34 rs77079422 T N/a N/a function N/A Not significant changes in the structure Function rs77079422-T of SNORA34 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000002602 22778062 SNORA46 rs75536385 A N/a N/a function N/A Not significant changes in the structure Function rs75536385-A of SNORA46 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000001150 22778062 SNORD115-18 rs12593567 C N/a N/a function N/A Not significant changes in the structure Function rs12593567-C of SNORD115-18 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000001486 22778062 SNORD114-31 rs76137386 C N/a N/a function N/A Not significant changes in the structure Function rs76137386-C of SNORD114-31 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000002632 22778062 SNORA29 rs3818298 G N/a N/a function N/A Not significant changes in the structure Function rs3818298-G of SNORA29 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000001950 22778062 SNORD1A rs73369110 A N/a N/a function N/A Not significant changes in the structure Function rs73369110-A of SNORD1A and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000000071 22778062 SNORA38 rs11755228 G N/a N/a function N/A Not significant changes in the structure Function rs11755228-G of SNORA38 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000003697 22778062 SNORD114-3 rs73350929 A N/a N/a function N/A Not significant changes in the structure Function rs73350929-A of SNORD114-3 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000001506 22778062 SNORA78 rs17135730 T N/a N/a function N/A Not significant changes in the structure Function rs17135730-T of SNORA78 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000003091 22778062 SNORA46 rs78103641 A N/a N/a function N/A Not significant changes in the structure Function rs78103641-A of SNORA46 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000003308 22778062 SNORA81 rs73063489 T N/a N/a function N/A Not significant changes in the structure Function rs73063489-T of SNORA81 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000002499 22778062 SNORD116-5 rs7402542 G N/a N/a function N/A Not significant changes in the structure Function rs7402542-G of SNORD116-5 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000000961 22778062 SNORD115-15 rs12910266 T N/a N/a function N/A Not significant changes in the structure Function rs12910266-T of SNORD115-15 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000001937 22778062 SNORA76 rs7211359 A N/a N/a function N/A Not significant changes in the structure Function rs7211359-A of SNORA76 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000003625 22778062 SNORD10 rs75736809 C N/a N/a function N/A Not significant changes in the structure Function rs75736809-C of SNORD10 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000003889 22778062 SNORD115-44 rs72546368 G N/a N/a function N/A Not significant changes in the structure Function rs72546368-G of SNORD115-44 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000002469 22778062 SNORA20 rs2295901 T N/a N/a function N/A Not significant changes in the structure Function rs2295901-T of SNORA20 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000000275 22778062 SNORA43 rs72761016 T N/a N/a function N/A Not significant changes in the structure Function rs72761016-T of SNORA43 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000003892 22778062 SNORD68 rs78090204 T N/a N/a function N/A Not significant changes in the structure Function rs78090204-T of SNORD68 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000003617 22778062 SNORD127 rs75940101 G N/a N/a function N/A Not significant changes in the structure Function rs75940101-G of SNORD127 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000001458 22778062 SNORA80 rs74960746 G N/a N/a function N/A Not significant changes in the structure Function rs74960746-G of SNORA80 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000002612 22778062 SNORA11B rs76554363 C N/a N/a function N/A Not significant changes in the structure Function rs76554363-C of SNORA11B and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000002841 22778062 SNORD115-5 rs34859712 T N/a N/a function N/A Not significant changes in the structure Function rs34859712-T of SNORD115-5 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000003381 22778062 SNORD17 rs11700054 A N/a N/a function N/A Not significant changes in the structure Function rs11700054-A of SNORD17 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000003377 22778062 SNORA25 rs80077790 C N/a N/a function N/A Not significant changes in the structure Function rs80077790-C of SNORA25 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000003372 22778062 SNORA44 rs41307828 A N/a N/a function N/A Not significant changes in the structure Function rs41307828-A of SNORA44 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000002571 22778062 SNORA78 rs35754181 T N/a N/a function N/A Not significant changes in the structure Function rs35754181-T of SNORA78 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000000456 22778062 SNORD114-6 rs12886437 T N/a N/a function N/A Not significant changes in the structure Function rs12886437-T of SNORD114-6 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000000581 22778062 SNORA80 rs77990421 G N/a N/a function N/A Not significant changes in the structure Function rs77990421-G of SNORA80 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000002847 22778062 SNORD116-10 rs74699658 T N/a N/a function N/A Not significant changes in the structure Function rs74699658-T of SNORD116-10 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000002675 22778062 SNORA38B rs61602831 C N/a N/a function N/A Not significant changes in the structure Function rs61602831-C of SNORA38B and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000001332 22778062 SNORD115-25 rs28497227 T N/a N/a function N/A Not significant changes in the structure Function rs28497227-T of SNORD115-25 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000003324 22778062 SNORD115-36 rs72546395 T N/a N/a function N/A Not significant changes in the structure Function rs72546395-T of SNORD115-36 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000001156 22778062 SNORD115-17 rs74005415 A N/a N/a function N/A Not significant changes in the structure Function rs74005415-A of SNORD115-17 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000001231 22778062 SNORA13 rs17266115 g N/a N/a function N/A Not significant changes in the structure Function rs17266115-g of SNORA13 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000002332 22778062 SNORA39 rs76979192 T N/a N/a function N/A Not significant changes in the structure Function rs76979192-T of SNORA39 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000001830 22778062 SNORD115-8 rs72546345 G N/a N/a function N/A Not significant changes in the structure Function rs72546345-G of SNORD115-8 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000003592 22778062 SNORA54 rs10488672 T N/a N/a function N/A Not significant changes in the structure Function rs10488672-T of SNORA54 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000000015 22778062 SNORD111 rs78746133 G N/a N/a function N/A Not significant changes in the structure Function rs78746133-G of SNORD111 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000002674 22778062 SNORD17 rs753213 A N/a N/a function N/A Not significant changes in the structure Function rs753213-A of SNORD17 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000003569 22778062 SNORD115-8 rs72546343 C N/a N/a function N/A Not significant changes in the structure Function rs72546343-C of SNORD115-8 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000000325 22778062 SNORA34 rs77994717 C N/a N/a function N/A Not significant changes in the structure Function rs77994717-C of SNORA34 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000000869 22778062 SNORD88A rs3810285 A N/a N/a function N/A Not significant changes in the structure Function rs3810285-A of SNORD88A and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000000166 22778062 SNORD107 rs45439098 C N/a N/a function N/A Not significant changes in the structure Function rs45439098-C of SNORD107 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000002374 22778062 SNORD116-4 rs2732022 A N/a N/a function N/A Not significant changes in the structure Function rs2732022-A of SNORD116-4 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000001227 22778062 SNORD115-29 rs72546392 T N/a N/a function N/A Not significant changes in the structure Function rs72546392-T of SNORD115-29 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000000516 22778062 SNORD116-18 rs3803328 A N/a N/a function N/A Not significant changes in the structure Function rs3803328-A of SNORD116-18 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000003760 22778062 SNORD88A rs3810284 T N/a N/a function N/A Not significant changes in the structure Function rs3810284-T of SNORD88A and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000003504 22778062 SNORD115-34 rs72546394 T N/a N/a function N/A Not significant changes in the structure Function rs72546394-T of SNORD115-34 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000002953 22778062 SNORD114-14 rs73350964 A N/a N/a function N/A Not significant changes in the structure Function rs73350964-A of SNORD114-14 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000000705 22778062 SNORD115-8 rs72546344 A N/a N/a function N/A Not significant changes in the structure Function rs72546344-A of SNORD115-8 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000001115 22778062 SNORD115-15 rs72547905 G N/a N/a function N/A Not significant changes in the structure Function rs72547905-G of SNORD115-15 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000001663 22778062 SNORD115-6 rs72546373 T N/a N/a function N/A Not significant changes in the structure Function rs72546373-T of SNORD115-6 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000001623 22778062 SNORD19 rs78417298 T N/a N/a function N/A Not significant changes in the structure Function rs78417298-T of SNORD19 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000001475 22778062 SNORD116-13 rs17115176 G N/a N/a function N/A Not significant changes in the structure Function rs17115176-G of SNORD116-13 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000000915 22778062 SNORA18 rs75598211 G N/a N/a function N/A Not significant changes in the structure Function rs75598211-G of SNORA18 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000002330 22778062 SNORD115-42 rs75729748 T N/a N/a function N/A Not significant changes in the structure Function rs75729748-T of SNORD115-42 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000002289 22778062 SNORD115-10 rs72546379 A N/a N/a function N/A Not significant changes in the structure Function rs72546379-A of SNORD115-10 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000002957 22778062 SNORD115-11 rs8179188 T N/a N/a function N/A Not significant changes in the structure Function rs8179188-T of SNORD115-11 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000001632 22778062 SNORD115-12 rs2714776 T N/a N/a function N/A Not significant changes in the structure Function rs2714776-T of SNORD115-12 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000002452 22778062 SNORD116-25 rs2472264 T N/a N/a function N/A Not significant changes in the structure Function rs2472264-T of SNORD116-25 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000000552 22778062 SNORD115-6 rs72546372 A N/a N/a function N/A Not significant changes in the structure Function rs72546372-A of SNORD115-6 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000002585 22778062 SNORD115-15 rs72546385 T N/a N/a function N/A Not significant changes in the structure Function rs72546385-T of SNORD115-15 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000001020 22778062 SNORD115-30 rs72546393 A N/a N/a function N/A Not significant changes in the structure Function rs72546393-A of SNORD115-30 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000003761 22778062 SNORD115-32 rs58296848 A N/a N/a function N/A Not significant changes in the structure Function rs58296848-A of SNORD115-32 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000003588 22778062 SNORD115-3 rs12899841 A N/a N/a function N/A Not significant changes in the structure Function rs12899841-A of SNORD115-3 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000000474 22778062 SNORA51 rs6037245 T N/a N/a function N/A Not significant changes in the structure Function rs6037245-T of SNORA51 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000001953 22778062 SNORA80 rs4816431 G N/a N/a function N/A Not significant changes in the structure Function rs4816431-G of SNORA80 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000000077 22778062 SNORD115-3 rs12905695 T N/a N/a function N/A Not significant changes in the structure Function rs12905695-T of SNORD115-3 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000003163 22778062 SNORA53 rs7955537 T N/a N/a function N/A Not significant changes in the structure Function rs7955537-T of SNORA53 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000000227 22778062 SNORD115-20 rs79423059 C N/a N/a function N/A Not significant changes in the structure Function rs79423059-C of SNORD115-20 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000003448 22778062 SNORD115-8 rs2011153 G N/a N/a function N/A Not significant changes in the structure Function rs2011153-G of SNORD115-8 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000001985 22778062 SNORD114-9 rs73350950 T N/a N/a function N/A Not significant changes in the structure Function rs73350950-T of SNORD114-9 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000003294 22778062 SNORD115-20 rs7176931 G N/a N/a function N/A Not significant changes in the structure Function rs7176931-G of SNORD115-20 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000000205 22778062 SNORD116-10 rs76593737 C N/a N/a function N/A Not significant changes in the structure Function rs76593737-C of SNORD116-10 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000003523 22778062 SNORD116-17 rs3803327 T N/a N/a function N/A Not significant changes in the structure Function rs3803327-T of SNORD116-17 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000002084 22778062 SNORA32 rs1944108 G N/a N/a function N/A Not significant changes in the structure Function rs1944108-G of SNORA32 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000001615 22778062 SNORD23 rs55813323 G N/a N/a function N/A Not significant changes in the structure Function rs55813323-G of SNORD23 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000002685 22778062 SNORA51 rs6050916 A N/a N/a function N/A Not significant changes in the structure Function rs6050916-A of SNORA51 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000001675 22778062 SNORD100 rs9389034 T N/a N/a function N/A Not significant changes in the structure Function rs9389034-T of SNORD100 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000001490 22778062 SNORD115-13 rs7172888 G N/a N/a function N/A Not significant changes in the structure Function rs7172888-G of SNORD115-13 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000000044 22778062 SNORA53 rs12297282 G N/a N/a function N/A Not significant changes in the structure Function rs12297282-G of SNORA53 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000000183 22778062 SNORD115-30 rs56825076 G N/a N/a function N/A Not significant changes in the structure Function rs56825076-G of SNORD115-30 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000003554 22778062 SNORD115-11 rs72546380 A N/a N/a function N/A Not significant changes in the structure Function rs72546380-A of SNORD115-11 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000002248 22778062 SNORD115-25 rs34280431 A N/a N/a function N/A Not significant changes in the structure Function rs34280431-A of SNORD115-25 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000001002 22778062 SNORA17 rs2275159 T N/a N/a function N/A Not significant changes in the structure Function rs2275159-T of SNORA17 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000002501 22778062 SNORA5B rs7776981 T N/a N/a function N/A Not significant changes in the structure Function rs7776981-T of SNORA5B and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000001482 22778062 SNORD114-6 rs12435883 C N/a N/a function N/A Not significant changes in the structure Function rs12435883-C of SNORD114-6 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000000845 22778062 SNORA24 rs72677031 C N/a N/a function N/A Not significant changes in the structure Function rs72677031-C of SNORA24 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000000735 22778062 SNORA38B rs9906731 G N/a N/a function N/A Not significant changes in the structure Function rs9906731-G of SNORA38B and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000001378 22778062 SNORD114-6 rs12432711 A N/a N/a function N/A Not significant changes in the structure Function rs12432711-A of SNORD114-6 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000002223 22778062 SNORA19 rs7908143 G N/a N/a function N/A Not significant changes in the structure Function rs7908143-G of SNORA19 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000003512 22778062 SNORA45 rs2073686 A N/a N/a function N/A Not significant changes in the structure Function rs2073686-A of SNORA45 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000001496 22778062 SNORA36B rs77219131 T N/a N/a function N/A Not significant changes in the structure Function rs77219131-T of SNORA36B and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000001112 22778062 SNORA38 rs2736172 T N/a N/a function N/A Not significant changes in the structure Function rs2736172-T of SNORA38 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000002827 22778062 SNORD124 rs4795422 T N/a N/a function N/A Not significant changes in the structure Function rs4795422-T of SNORD124 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000002407 22778062 SNORA20 rs9456447 G or T N/a N/a function N/A Not significant changes in the structure Function rs9456447-G or T of SNORA20 and its dysfunction having not significant changes in the structure associated with function by using SNPfold prediction in N/A. 0.05 Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci. NCRV0000001131 20520619 mir-196a2 rs11614913 T N/a 230 gbc cases and 230 controls EFO_1001956 N/A No significance for risk Gallbladder cancer rs11614913-T of mir-196a2 and its dysfunction is not significantly associated with gallbladder cancer by using case-control analysis in 230 GBC cases and 230 controls. 0.4 Common genetic variants in pre-microRNAs and risk of gallbladder cancer in North Indian population. NCRV0000001956 20520619 mir-146a rs2910164 C N/a 230 gbc cases and 230 controls EFO_1001956 N/A No significance for risk Gallbladder cancer rs2910164-C of mir-146a and its dysfunction is not significantly associated with gallbladder cancer by using case-control analysis in 230 GBC cases and 230 controls. 0.4 Common genetic variants in pre-microRNAs and risk of gallbladder cancer in North Indian population. NCRV0000002192 20520619 mir-499 rs3746444 C N/a 230 gbc cases and 230 controls EFO_1001956 N/A No significance for risk Gallbladder cancer rs3746444-C of mir-499 and its dysfunction is not significantly associated with gallbladder cancer by using case-control analysis in 230 GBC cases and 230 controls. 0.4 Common genetic variants in pre-microRNAs and risk of gallbladder cancer in North Indian population. NCRV0000001662 25771723 miR-107 rs2296616 C Dominant Test in 715 cases and 804 controls and validation in 940 cases and 1050 controls EFO_0000503 N/A Decreasing risk Gastric adenocarcinoma rs2296616-C of miR-107 and its dysfunction is significantly associated with the decreasing risk of gastric adenocarcinoma by using case-control analysis in test in 715 cases and 804 controls and validation in 940 cases and 1050 controls. By using the disease cell lines or tissues, the mutation of miR-107 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 A common genetic variation in the promoter of miR-107 is associated with gastric adenocarcinoma susceptibility and survival. NCRV0000003242 19834808 miR-196a-2 rs11614913 C Recessive 213 gastric cancer patients and 213 age- and sex-matched controls EFO_0000178 N/A Increasing risk Gastric cancer rs11614913-C of miR-196a-2 and its dysfunction is significantly associated with the increasing risk of gastric cancer by using case-control analysis in 213 gastric cancer patients and 213 age- and sex-matched controls. 0.4 Association of microRNA-196a-2 gene polymorphism with gastric cancer risk in a Chinese population. NCRV0000003927 20666778 hsa-mir-27a rs895819 G N/a 304 gastric cancer cases and 304 cancer-free controls EFO_0000178 N/A Increasing risk Gastric cancer rs895819-G of hsa-mir-27a and its dysfunction is significantly associated with the increasing risk of gastric cancer by using case-control analysis in 304 gastric cancer cases and 304 cancer-free controls. By using the disease cell lines or tissues, the mutation of hsa-mir-27a has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Hsa-mir-27a genetic variant contributes to gastric cancer susceptibility through affecting miR-27a and target gene expression. NCRV0000003242 21073609 miR-196a2 rs11614913 T N/a 552 gc, and 697 non-cancer subjects EFO_0000178 N/A Poor prognosis Gastric cancer rs11614913-T of miR-196a2 and its dysfunction is significantly associated with the increasing risk of gastric cancer by using case-control analysis in 552 GC, and 697 non-cancer subjects. 0.4 Association between common genetic variants in pre-microRNAs and gastric cancer risk in Japanese population. NCRV0000003913 21073609 miR-146a rs2910164 C Recessive 552 gc, and 697 non-cancer subjects EFO_0000178 N/A Increasing risk Gastric cancer rs2910164-C of miR-146a and its dysfunction is significantly associated with the increasing risk of gastric cancer by using case-control analysis in 552 GC, and 697 non-cancer subjects. 0.4 Association between common genetic variants in pre-microRNAs and gastric cancer risk in Japanese population. NCRV0000001405 21073609 miR-499 rs3746444 G N/a 552 gc, and 697 non-cancer subjects EFO_0000178 N/A No significance for risk Gastric cancer rs3746444-G of miR-499 and its dysfunction is not significantly associated with gastric cancer by using case-control analysis in 552 GC, and 697 non-cancer subjects. 0.4 Association between common genetic variants in pre-microRNAs and gastric cancer risk in Japanese population. NCRV0000003927 22350505 miR-27a rs895819 C Dominant 311 gastric cancers and 425 cancer-free controls EFO_0000178 N/A Decreasing risk Gastric cancer rs895819-C of miR-27a and its dysfunction is significantly associated with the decreasing risk of gastric cancer by using case-control analysis in 311 gastric cancers and 425 cancer-free controls. 0.4 Association analysis of genetic variants in microRNA networks and gastric cancer risk in a Chinese Han population. NCRV0000003242 23423813 MIR196A2 rs11614913 C Recessive The test set comprised 749 cases and 900 controls, while the validation set enrolled 940 cases and 1046 controls EFO_0000178 N/A Decreased risk and better prognosis Gastric cancer rs11614913-C of MIR196A2 and its dysfunction is significantly associated with the decreasing risk and better prognosis of gastric cancer by using case-control analysis in The test set comprised 749 cases and 900 controls, while the validation set enrolled 940 cases and 1046 controls. 0.4 A functional polymorphism in MIR196A2 is associated with risk and prognosis of gastric cancer. NCRV0000003242 23975664 mir-196a2 rs11614913 ? Dominant 674 advanced gastric cancer patients received 5-fluorouracil (f), leucovorin (l), oxaliplatin (o) or fl + cisplatin (p) or additional docetaxel (t) to flo (flot) within four clinical trials EFO_0000178 N/A Better prognosis Gastric cancer rs11614913-? of mir-196a2 and its dysfunction is significantly associated with the better prognosis of gastric cancer by using case-control analysis in 674 advanced gastric cancer patients received 5-fluorouracil (F), leucovorin (L), oxaliplatin (O) or FL + cisplatin (P) or additional docetaxel (T) to FLO (FLOT) within four clinical trials. 0.4 Prognostic role of microRNA polymorphisms in advanced gastric cancer: a translational study of the Arbeitsgemeinschaft Internistische Onkologie (AIO). NCRV0000000142 23975664 mir-26a1 rs7372209 ? Dominant 674 advanced gastric cancer patients received 5-fluorouracil (f), leucovorin (l), oxaliplatin (o) or fl + cisplatin (p) or additional docetaxel (t) to flo (flot) within four clinical trials EFO_0000178 N/A Poor prognosis Gastric cancer rs7372209-? of mir-26a1 and its dysfunction is significantly associated with the poor prognosis of gastric cancer by using case-control analysis in 674 advanced gastric cancer patients received 5-fluorouracil (F), leucovorin (L), oxaliplatin (O) or FL + cisplatin (P) or additional docetaxel (T) to FLO (FLOT) within four clinical trials. 0.4 Prognostic role of microRNA polymorphisms in advanced gastric cancer: a translational study of the Arbeitsgemeinschaft Internistische Onkologie (AIO). NCRV0000003927 23975664 mir-27a rs895819 ? Dominant 674 advanced gastric cancer patients received 5-fluorouracil (f), leucovorin (l), oxaliplatin (o) or fl + cisplatin (p) or additional docetaxel (t) to flo (flot) within four clinical trials EFO_0000178 N/A Poor prognosis Gastric cancer rs895819-? of mir-27a and its dysfunction is significantly associated with the poor prognosis of gastric cancer by using case-control analysis in 674 advanced gastric cancer patients received 5-fluorouracil (F), leucovorin (L), oxaliplatin (O) or FL + cisplatin (P) or additional docetaxel (T) to FLO (FLOT) within four clinical trials. 0.4 Prognostic role of microRNA polymorphisms in advanced gastric cancer: a translational study of the Arbeitsgemeinschaft Internistische Onkologie (AIO). NCRV0000001405 24107911 mir-499 rs3746444 G N/a 201 gastric cancer and 213 non-cancer subjects EFO_0000178 N/A No significance for risk Gastric cancer rs3746444-G of mir-499 and its dysfunction is not significantly associated with gastric cancer by using case-control analysis in 201 gastric cancer and 213 non-cancer subjects . 0.4 Association of the hsa-mir-499 (rs3746444) polymorphisms with gastric cancer risk in the Chinese population. NCRV0000003913 24413317 miR-146a rs2910164 C N/a 16399 cases and 21779 controls from seven published studies in eight common cancers EFO_0000178 N/A Decreasing risk Gastric cancer rs2910164-C of miR-146a and its dysfunction is significantly associated with the decreasing risk of gastric cancer by using meta-analysis in 16399 cases and 21779 controls from seven published studies in eight common cancers. 0.4 MicroRNA sequence polymorphisms and the risk of different types of cancer. NCRV0000002177 24643999 miR-10b rs1348807 G N/a 365 gastric cancer cases and 1,284 matched controls within the european prospective investigation into cancer and nutrition cohort EFO_0000178 N/A No significance for risk Gastric cancer rs1348807-G of miR-10b and its dysfunction is not significantly associated with gastric cancer by using case-control analysis in 365 gastric cancer cases and 1,284 matched controls within the European Prospective Investigation into Cancer and Nutrition cohort. 0.4 Genetic association of gastric cancer with miRNA clusters including the cancer-related genes MIR29, MIR25, MIR93 and MIR106: results from the EPIC-EURGAST study. NCRV0000003242 24716941 miR-196a2 rs11614913 C Recessive 524 subjects without cancer and 827 subjects with at least one type of cancer, such as gastric (n=160), lung (n=148), colorectal (n=116) or others. EFO_0000178 N/A Increasing risk Gastric cancer rs11614913-C of miR-196a2 and its dysfunction is significantly associated with the increasing risk of gastric cancer by using case-control analysis in 524 subjects without cancer and 827 subjects with at least one type of cancer, such as gastric (n=160), lung (n=148), colorectal (n=116) or others 0.4 Association analysis of single nucleotide polymorphisms in miR-146a and miR-196a2 on the prevalence of cancer in elderly Japanese: a case-control study. NCRV0000002487 24760009 pri-let-7a-2 rs629367 C Recessive 107 gastric cancer patients, 107 atrophic gastritis (ag), and matched 124 controls EFO_0000178 N/A Increased risk and poor prognosis Gastric cancer rs629367-C of pri-let-7a-2 and its dysfunction is significantly associated with the increasing risk and poor prognosis of gastric cancer by using case-control analysis in 107 gastric cancer patients, 107 atrophic gastritis (AG), and matched 124 controls . 0.4 A new polymorphism biomarker rs629367 associated with increased risk and poor survival of gastric cancer in chinese by up-regulated miRNA-let-7a expression. NCRV0000002462 25190020 miR-34b/c rs4938723 C Dominant 419 gastric cancer patients and 402 age- and sex-matched cancer-free controls EFO_0000178 N/A Decreasing risk Gastric cancer rs4938723-C of miR-34b/c and its dysfunction is significantly associated with the decreasing risk of gastric cancer by using case-control analysis in 419 gastric cancer patients and 402 age- and sex-matched cancer-free controls. 0.4 Promoter polymorphisms of miR-34b/c are associated with risk of gastric cancer in a Chinese population. NCRV0000003043 25261463 miR_148b rs11170877 G N/a 571 chinese gc patients and 571 cancer-free controls EFO_0000178 N/A Decreasing risk Gastric cancer rs11170877-G of miR_148b and its dysfunction is significantly associated with the decreasing risk of gastric cancer by using case-control analysis in 571 Chinese GC patients and 571 cancer-free controls. 0.4 Polymorphisms and haplotypes of the miR-148/152 family are associated with the risk and clinicopathological features of gastric cancer in a Northern Chinese population. NCRV0000000291 25261463 miR_148b rs12231393 C N/a 571 chinese gc patients and 571 cancer-free controls EFO_0000178 N/A Decreasing risk Gastric cancer rs12231393-C of miR_148b and its dysfunction is significantly associated with the decreasing risk of gastric cancer by using case-control analysis in 571 Chinese GC patients and 571 cancer-free controls. 0.4 Polymorphisms and haplotypes of the miR-148/152 family are associated with the risk and clinicopathological features of gastric cancer in a Northern Chinese population. NCRV0000001739 25261463 miR_148a rs4719839 G N/a 571 chinese gc patients and 571 cancer-free controls EFO_0000178 N/A Poor prognosis Gastric cancer rs4719839-G of miR_148a and its dysfunction is significantly associated with the poor prognosis of gastric cancer by using case-control analysis in 571 Chinese GC patients and 571 cancer-free controls. 0.4 Polymorphisms and haplotypes of the miR-148/152 family are associated with the risk and clinicopathological features of gastric cancer in a Northern Chinese population. NCRV0000003913 25326754 miR-146a rs2910164 G Recessive 3,885 gastric cancer patients and 5,396 controls among chinese EFO_0000178 N/A Increasing risk Gastric cancer rs2910164-G of miR-146a and its dysfunction is significantly associated with the increasing risk of gastric cancer by using meta-analysis in 3,885 gastric cancer patients and 5,396 controls among Chinese. 0.4 MiR-146a rs2910164 G/C polymorphism and gastric cancer susceptibility: a meta-analysis. NCRV0000002741 25640751 HOTAIR rs920778 T Dominant 800 gastric cancer patients and 1600 controls EFO_0000178 N/A Increasing risk Gastric cancer rs920778-T of HOTAIR and its dysfunction is significantly associated with the increasing risk of gastric cancer by using case-control analysis in 800 gastric cancer patients and 1600 controls. By using the disease cell lines or tissues, the mutation of HOTAIR has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 A functional lncRNA HOTAIR genetic variant contributes to gastric cancer susceptibility. NCRV0000003505 25944697 H19 rs217727 T Recessive 500 gastric cancer patients and 500 healthy controls. EFO_0000178 N/A Increasing risk Gastric cancer rs217727-T of H19 and its dysfunction is significantly associated with the increasing risk of gastric cancer by using case-control analysis in 500 gastric cancer patients and 500 healthy controls 0.4 Tag SNPs in long non-coding RNA H19 contribute to susceptibility to gastric cancer in the Chinese Han population. NCRV0000001079 25944697 H19 rs2839698 T Recessive 500 gastric cancer patients and 500 healthy controls. EFO_0000178 N/A Increasing risk Gastric cancer rs2839698-T of H19 and its dysfunction is significantly associated with the increasing risk of gastric cancer by using case-control analysis in 500 gastric cancer patients and 500 healthy controls 0.4 Tag SNPs in long non-coding RNA H19 contribute to susceptibility to gastric cancer in the Chinese Han population. NCRV0000002314 25944697 H19 rs3741216 T N/a 500 gastric cancer patients and 500 healthy controls. EFO_0000178 N/A No significance for risk Gastric cancer rs3741216-T of H19 and its dysfunction is not significantly associated with gastric cancer by using case-control analysis in 500 gastric cancer patients and 500 healthy controls 0.4 Tag SNPs in long non-coding RNA H19 contribute to susceptibility to gastric cancer in the Chinese Han population. NCRV0000002667 25944697 H19 rs3741219 C N/a 500 gastric cancer patients and 500 healthy controls. EFO_0000178 N/A No significance for risk Gastric cancer rs3741219-C of H19 and its dysfunction is not significantly associated with gastric cancer by using case-control analysis in 500 gastric cancer patients and 500 healthy controls 0.4 Tag SNPs in long non-coding RNA H19 contribute to susceptibility to gastric cancer in the Chinese Han population. NCRV0000002741 25980897 HOTAIR rs920778 T N/a 104 gastric cancer cases and 209 age and sex matched healthy controls in a turkish population EFO_0000178 N/A No significance for risk Gastric cancer rs920778-T of HOTAIR and its dysfunction is not significantly associated with gastric cancer by using case-control analysis in 104 gastric cancer cases and 209 age and sex matched healthy controls in a Turkish population. 0.4 A functional HOTAIR rs920778 polymorphism does not contributes to gastric cancer in a Turkish population: a case-control study. NCRV0000003242 26345764 miR-196a-2 rs11614913 T N/a 8285 patients and 10,716 controls. EFO_0000178 N/A No significance for risk Gastric cancer rs11614913-T of miR-196a-2 and its dysfunction is not significantly associated with gastric cancer by using meta-analysis in 8285 patients and 10,716 controls 0.4 Association between five common polymorphisms in microRNA genes and the risk of gastric cancer: a meta-analysis. NCRV0000003390 26345764 miRNA-149 rs2292832 C N/a 8285 patients and 10,716 controls. EFO_0000178 N/A No significance for risk Gastric cancer rs2292832-C of miRNA-149 and its dysfunction is not significantly associated with gastric cancer by using meta-analysis in 8285 patients and 10,716 controls 0.4 Association between five common polymorphisms in microRNA genes and the risk of gastric cancer: a meta-analysis. NCRV0000003913 26345764 miR-146a rs2910164 C N/a 8285 patients and 10,716 controls. EFO_0000178 N/A No significance for risk Gastric cancer rs2910164-C of miR-146a and its dysfunction is not significantly associated with gastric cancer by using meta-analysis in 8285 patients and 10,716 controls 0.4 Association between five common polymorphisms in microRNA genes and the risk of gastric cancer: a meta-analysis. NCRV0000001405 26345764 miR-499 rs3746444 C N/a 8285 patients and 10,716 controls. EFO_0000178 N/A No significance for risk Gastric cancer rs3746444-C of miR-499 and its dysfunction is not significantly associated with gastric cancer by using meta-analysis in 8285 patients and 10,716 controls 0.4 Association between five common polymorphisms in microRNA genes and the risk of gastric cancer: a meta-analysis. NCRV0000003927 26345764 miRNA-27a rs895819 G N/a 8285 patients and 10,716 controls. EFO_0000178 N/A No significance for risk Gastric cancer rs895819-G of miRNA-27a and its dysfunction is not significantly associated with gastric cancer by using meta-analysis in 8285 patients and 10,716 controls 0.4 Association between five common polymorphisms in microRNA genes and the risk of gastric cancer: a meta-analysis. NCRV0000003368 26384301 HOTAIR rs4759314 G N/a 1,275 gc cases and 1,646 cancer-free controls (753 cases and 1,057 controls for the test set, with additional 522 cases and 589 controls for the validation set) in a chinese population EFO_0000178 N/A Increasing risk Gastric cancer rs4759314-G of HOTAIR and its dysfunction is significantly associated with the increasing risk of gastric cancer by using case-control analysis in 1,275 GC cases and 1,646 cancer-free controls (753 cases and 1,057 controls for the test set, with additional 522 cases and 589 controls for the validation set) in a Chinese population. 0.4 The association analysis of lncRNA HOTAIR genetic variants and gastric cancer risk in a Chinese population. NCRV0000003242 26406571 miR-196a2 rs11614913 C N/a Several case-control studies EFO_0000178 N/A No significance for risk Gastric cancer rs11614913-C of miR-196a2 and its dysfunction is not significantly associated with gastric cancer by using meta-analysis in several case-control studies. 0.4 The association between two common polymorphisms (miR-146a rs2910164 and miR-196a2 rs11614913) and susceptibility to gastric cancer: A meta-analysis. NCRV0000003913 26406571 miR-146a rs2910164 C Dominant Several case-control studies EFO_0000178 N/A Decreasing risk Gastric cancer rs2910164-C of miR-146a and its dysfunction is significantly associated with the decreasing risk of gastric cancer by using meta-analysis in several case-control studies. 0.4 The association between two common polymorphisms (miR-146a rs2910164 and miR-196a2 rs11614913) and susceptibility to gastric cancer: A meta-analysis. NCRV0000001405 26597478 miR-499 rs3746444 C Dominant 363 gastric cancer patients and 969 cancer-free controls in chinese population EFO_0000178 N/A Increasing risk Gastric cancer rs3746444-C of miR-499 and its dysfunction is significantly associated with the increasing risk of gastric cancer by using case-control analysis in 363 gastric cancer patients and 969 cancer-free controls in Chinese population. 0.4 Association between microRNA-499 polymorphism and gastric cancer risk in Chinese population. NCRV0000002955 28342055 HOTAIR rs12826786 T Dominant 105 gastric cancer patients and 207 healthy controls matched on age and gender in a turkish population EFO_0000178 N/A No significance for risk Gastric cancer rs12826786-T of HOTAIR and its dysfunction is not significantly associated with gastric cancer by using case-control analysis in 105 gastric cancer patients and 207 healthy controls matched on age and gender in a Turkish population. 0.4 The analysis of lncRNA HOTAIR rs12826786 C>T polymorphism and gastric cancer susceptibility in a Turkish population: lack of any association in a hospital-based case-control study. NCRV0000003242 28922434 miR-196a2 rs11614913 T N/a 142 gastric cancer patients and 288 age and gender matched cancer-free controls EFO_0000178 N/A No significance for risk Gastric cancer rs11614913-T of miR-196a2 and its dysfunction is not significantly associated with gastric cancer by using case-control analysis in 142 gastric cancer patients and 288 age and gender matched cancer-free controls. 0.4 Association of microRNA Polymorphisms with the Risk of Gastric Cancer in a Romanian Population. NCRV0000003913 28922434 miR-146a rs2910164 C N/a 142 gastric cancer patients and 288 age and gender matched cancer-free controls EFO_0000178 N/A No significance for risk Gastric cancer rs2910164-C of miR-146a and its dysfunction is not significantly associated with gastric cancer by using case-control analysis in 142 gastric cancer patients and 288 age and gender matched cancer-free controls. 0.4 Association of microRNA Polymorphisms with the Risk of Gastric Cancer in a Romanian Population. NCRV0000001405 28922434 miR-499 rs3746444 G N/a 142 gastric cancer patients and 288 age and gender matched cancer-free controls EFO_0000178 N/A No significance for risk Gastric cancer rs3746444-G of miR-499 and its dysfunction is not significantly associated with gastric cancer by using case-control analysis in 142 gastric cancer patients and 288 age and gender matched cancer-free controls. 0.4 Association of microRNA Polymorphisms with the Risk of Gastric Cancer in a Romanian Population. NCRV0000003927 28922434 miR-27a rs895819 C Recessive 142 gastric cancer patients and 288 age and gender matched cancer-free controls EFO_0000178 N/A Increasing risk Gastric cancer rs895819-C of miR-27a and its dysfunction is significantly associated with the increasing risk of gastric cancer by using case-control analysis in 142 gastric cancer patients and 288 age and gender matched cancer-free controls. 0.4 Association of microRNA Polymorphisms with the Risk of Gastric Cancer in a Romanian Population. NCRV0000003560 28931965 PTENP1 rs7853346 G Dominant 768 gastric cancer patients and 768 cancer-free controls in a chinese population EFO_0000178 N/A Decreasing risk Gastric cancer rs7853346-G of PTENP1 and its dysfunction is significantly associated with the decreasing risk of Gastric Cancer by using case-control analysis in 768 Gastric Cancer patients and 768 cancer-free controls in a Chinese population. 0.4 Polymorphisms in lncRNA PTENP1 and the Risk of Gastric Cancer in a Chinese Population. NCRV0000000425 24643999 miR-223 rs1044165 T N/a 365 gastric cancer cases and 1,284 matched controls within the european prospective investigation into cancer and nutrition cohort EFO_0000402 N/A Decreasing risk Gastric cancer (diffuse type) rs1044165-T of miR-223 and its dysfunction is significantly associated with the decreasing risk of gastric cancer (Diffuse type) by using case-control analysis in 365 gastric cancer cases and 1,284 matched controls within the European Prospective Investigation into Cancer and Nutrition cohort. 0.4 Genetic association of gastric cancer with miRNA clusters including the cancer-related genes MIR29, MIR25, MIR93 and MIR106: results from the EPIC-EURGAST study. NCRV0000001787 24643999 miR-10b rs6736786 G N/a 365 gastric cancer cases and 1,284 matched controls within the european prospective investigation into cancer and nutrition cohort EFO_0000178 N/A Increasing risk Gastric cancer(no cardias type) rs6736786-G of miR-10b and its dysfunction is significantly associated with the increasing risk of gastric cancer(No cardias type) by using case-control analysis in 365 gastric cancer cases and 1,284 matched controls within the European Prospective Investigation into Cancer and Nutrition cohort. 0.4 Genetic association of gastric cancer with miRNA clusters including the cancer-related genes MIR29, MIR25, MIR93 and MIR106: results from the EPIC-EURGAST study. NCRV0000003036 25476857 HOTAIR rs12826786 T N/a 515 gastric cardia adenocarcinoma patients and 654 control subjects EFO_1001252 N/A Increasing risk Gastric cardia adenocarcinoma rs12826786-T of HOTAIR and its dysfunction is significantly associated with the increasing risk of gastric cardia adenocarcinoma by using case-control analysis in 515 gastric cardia adenocarcinoma patients and 654 control subjects. 0.4 Associations between polymorphisms of HOTAIR and risk of gastric cardia adenocarcinoma in a population of north China. NCRV0000000323 27197292 piR-11714 rs142742690 ? N/a 1,840 glioma cases and 2,401 controls EFO_0005543 N/A Decreasing risk Glioma rs142742690-? of piR-11714 and its dysfunction is significantly associated with the decreasing risk of glioma by using genome-wide association analysis in 1,840 glioma cases and 2,401 controls. 0.4 PIWI-Interacting RNAs in Gliomagenesis: Evidence from Post-GWAS and Functional Analyses. NCRV0000000707 27197292 piR-598 rs147061479 ? N/a 1840 glioma cases and 2401 controls EFO_0005543 N/A Increasing risk Glioma rs147061479-? of piR-598 and its dysfunction is significantly associated with the increasing risk of glioma by using genome-wide association analysis in 1840 glioma cases and 2401 controls. By using the disease cell lines or tissues, the mutation of piR-598 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 PIWI-Interacting RNAs in Gliomagenesis: Evidence from Post-GWAS and Functional Analyses. NCRV0000002419 27197292 piR-2799 rs149336947 ? N/a 1,840 glioma cases and 2,401 controls EFO_0005543 N/A Increasing risk Glioma rs149336947-? of piR-2799 and its dysfunction is significantly associated with the increasing risk of glioma by using genome-wide association analysis in 1,840 glioma cases and 2,401 controls. 0.4 PIWI-Interacting RNAs in Gliomagenesis: Evidence from Post-GWAS and Functional Analyses. NCRV0000002031 27197292 piR-3266 rs35712968 ? N/a 1,840 glioma cases and 2,401 controls EFO_0005543 N/A Decreasing risk Glioma rs35712968-? of piR-3266 and its dysfunction is significantly associated with the decreasing risk of glioma by using genome-wide association analysis in 1,840 glioma cases and 2,401 controls. 0.4 PIWI-Interacting RNAs in Gliomagenesis: Evidence from Post-GWAS and Functional Analyses. NCRV0000000284 27197292 piR-18913 rs62435800 ? N/a 1,840 glioma cases and 2,401 controls EFO_0005543 N/A Decreasing risk Glioma rs62435800-? of piR-18913 and its dysfunction is significantly associated with the decreasing risk of glioma by using genome-wide association analysis in 1,840 glioma cases and 2,401 controls. 0.4 PIWI-Interacting RNAs in Gliomagenesis: Evidence from Post-GWAS and Functional Analyses. NCRV0000000700 27796868 miR196a2 rs11614913 ? N/a 180 glioma cases and controls EFO_0005543 N/A No significance for risk Glioma rs11614913-? of miR196a2 and its dysfunction is not significantly associated with glioma by using case-control analysis in 180 glioma cases and controls. 0.4 Effect of rs11614913 Polymorphism on Mature miR196a2 Expression and its Target Gene HOXC8 Expression in Human Glioma. NCRV0000003007 30074406 GAS5 rs145204276 del AGGCA N/a Glioma development in a chinese population EFO_0005543 N/A Increasing risk Glioma rs145204276-del AGGCA of GAS5 and its dysfunction is significantly associated with the increasing risk of Glioma by using analysis of sequence variation in glioma development in a Chinese population. By using the disease cell lines or tissues, the interference and mutation of GAS5 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 LncRNA GAS5 Indel Genetic Polymorphism Contributes to Glioma Risk Through Interfering Binding of Transcriptional Factor TFAP2A. NCRV0000000700 23430406 miR-196a2 rs11614913 C Recessive 680 glioma cases and 690 cancer-free controls EFO_0005543 N/A Increasing risk Gliomas rs11614913-C of miR-196a2 and its dysfunction is significantly associated with the increasing risk of gliomas by using case-control analysis in 680 glioma cases and 690 cancer-free controls. 0.4 Four common polymorphisms in microRNAs and the risk of adult glioma in a Chinese case-control study. NCRV0000003986 23430406 miR-149 rs2292832 T N/a 680 glioma cases and 690 cancer-free controls EFO_0005543 N/A No significance for risk Gliomas rs2292832-T of miR-149 and its dysfunction is not significantly associated with gliomas by using case-control analysis in 680 glioma cases and 690 cancer-free controls. 0.4 Four common polymorphisms in microRNAs and the risk of adult glioma in a Chinese case-control study. NCRV0000000154 23430406 miR-146a rs2910164 G Recessive 680 glioma cases and 690 cancer-free controls EFO_0005543 N/A Increasing risk Gliomas rs2910164-G of miR-146a and its dysfunction is significantly associated with the increasing risk of gliomas by using case-control analysis in 680 glioma cases and 690 cancer-free controls. 0.4 Four common polymorphisms in microRNAs and the risk of adult glioma in a Chinese case-control study. NCRV0000001295 23430406 miR-499 rs3746444 G N/a 680 glioma cases and 690 cancer-free controls EFO_0005543 N/A No significance for risk Gliomas rs3746444-G of miR-499 and its dysfunction is not significantly associated with gliomas by using case-control analysis in 680 glioma cases and 690 cancer-free controls. 0.4 Four common polymorphisms in microRNAs and the risk of adult glioma in a Chinese case-control study. NCRV0000001067 26836412 miR-137 rs1625579 T N/a 89 schizophrenia patients and 132 controls EFO_0000692 N/A Increasing risk Gray matter structure in schizophrenia rs1625579-T of miR-137 and its dysfunction is significantly associated with the increasing risk of gray matter structure in schizophrenia by using case-control analysis in 89 schizophrenia patients and 132 controls. By using the disease cell lines or tissues, the mutation of miR-137 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Polymorphisms in MIR137HG and microRNA-137-regulated genes influence gray matter structure in schizophrenia. NCRV0000002802 20501619 MIR196A2 rs11614913 T Dominant 484 cases and 555 controls EFO_0000181 N/A Decreasing risk Head and neck squamous cell carcinoma rs11614913-T of MIR196A2 and its dysfunction is significantly associated with the decreasing risk of head and neck squamous cell carcinoma by using case-control analysis in 484 cases and 555 controls. 0.4 Mature microRNA sequence polymorphism in MIR196A2 is associated with risk and prognosis of head and neck cancer. NCRV0000002655 23272122 miR-149 rs2292832 T Recessive 273 cases and 122 controls EFO_0000181 N/A Poor prognosis Head and neck squamous cell carcinoma rs2292832-T of miR-149 and its dysfunction is significantly associated with the poor prognosis of head and neck squamous cell carcinoma by using case-control analysis in 273 cases and 122 controls. By using the disease cell lines or tissues, the mutation of miR-149 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 The association between genetic polymorphism and the processing efficiency of miR-149 affects the prognosis of patients with head and neck squamous cell carcinoma. NCRV0000001574 29049342 miRNA-146a rs2910164 C N/a Several case-control studies EFO_0000181 N/A Increasing risk Head and neck squamous cell carcinoma rs2910164-C of miRNA-146a and its dysfunction is significantly associated with the increasing risk of head and neck squamous cell carcinoma by using meta-analysis in several case-control studies. 0.4 Association between a miRNA-146a polymorphism and susceptibility to head and neck squamous cell carcinoma in Chinese patients: A meta-analysis of 8 case-control studies. NCRV0000000739 23372812 miR-22 rs7223247 T Dominant 255 families comprising 1,425 individuals EFO_0003144 N/A Increasing risk Heart failure rs7223247-T of miR-22 and its dysfunction is significantly associated with the increasing risk of heart failure by using case-control analysis in 255 families comprising 1,425 individuals. 0.4 Common variation neighbouring micro-RNA 22 is associated with increased left ventricular mass. NCRV0000002438 23613822 miR-146a rs2910164 CC Recessive 2,380 participants with diverse gastric lesions Orphanet_92050 N/A Increasing risk Helicobacter pylori-induced intestinal metaplasia or dysplasia rs2910164-CC of miR-146a and its dysfunction is significantly associated with the increasing risk of Helicobacter pylori-induced intestinal metaplasia or dysplasia by using analysis of sequence variation in 2,380 participants with diverse gastric lesions. 0.4 Genetic polymorphisms of miR-146a and miR-27a, H. pylori infection, and risk of gastric lesions in a Chinese population. NCRV0000001533 23613822 miR-27a rs895819 C N/a 2,380 participants with diverse gastric lesions Orphanet_92050 N/A No significance for risk Helicobacter pylori-induced intestinal metaplasia or dysplasia rs895819-C of miR-27a and its dysfunction is not significantly associated with Helicobacter pylori-induced intestinal metaplasia or dysplasia by using analysis of sequence variation in 2,380 participants with diverse gastric lesions. 0.4 Genetic polymorphisms of miR-146a and miR-27a, H. pylori infection, and risk of gastric lesions in a Chinese population. NCRV0000002423 24341744 miRNA-323b rs56103835 T Dominant 404 spontaneously recovered (sr) subjects as normal controls and 1035 chronic carriers (cc) of hbv who were further classified into 313 patients with chronic hepatitis, 305 patients with liver cirrhosis and 417 patients with hepatocellular carcinoma EFO_0004197 N/A Increasing risk Hepatitis b virus infection rs56103835-T of miRNA-323b and its dysfunction is significantly associated with the increasing risk of hepatitis B virus infection by using case-control analysis in 404 spontaneously recovered (SR) subjects as normal controls and 1035 chronic carriers (CC) of HBV who were further classified into 313 patients with chronic hepatitis, 305 patients with liver cirrhosis and 417 patients with hepatocellular carcinoma. By using the disease cell lines or tissues, the mutation of miRNA-323b has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Association of a microRNA-323b polymorphism with the persistence of hepatitis B virus infection by the enhancement of viral replication. NCRV0000002565 29803923 HULC rs1041279 G N/a 521 patients and 817 sex- and age (¡À5) frequency-matched controls in the risk study; among them, 351 hepatocellular cancer patients were involved in the prognosis study. EFO_0000182 N/A Increasing risk Hepatocellular cancer rs1041279-G of HULC and its dysfunction is significantly associated with the increasing risk of hepatocellular cancer by using case-control analysis in 521 patients and 817 sex- and age (¡À5) frequency-matched controls in the risk study; Among them, 351 hepatocellular cancer patients were involved in the prognosis study. . 0.4 The association of lncRNA-HULC polymorphisms with hepatocellular cancer risk and prognosis. NCRV0000000967 29803923 HULC rs7770772 C N/a 521 patients and 817 sex- and age (¡À5) frequency-matched controls in the risk study; among them, 351 hepatocellular cancer patients were involved in the prognosis study. EFO_0000182 N/A No significance for risk Hepatocellular cancer rs7770772-C of HULC and its dysfunction is not significantly associated with hepatocellular cancer by using case-control analysis in 521 patients and 817 sex- and age (¡À5) frequency-matched controls in the risk study; Among them, 351 hepatocellular cancer patients were involved in the prognosis study. . 0.4 The association of lncRNA-HULC polymorphisms with hepatocellular cancer risk and prognosis. NCRV0000001162 29803923 HULC rs3005167 C N/a 521 patients and 817 sex- and age (¡À5) frequency-matched controls in the risk study; among them, 351 hepatocellular cancer patients were involved in the prognosis study. EFO_0000182 N/A No significance for risk Hepatocellular cancer rs3005167-C of HULC and its dysfunction is not significantly associated with hepatocellular cancer by using case-control analysis in 521 patients and 817 sex- and age (¡À5) frequency-matched controls in the risk study; Among them, 351 hepatocellular cancer patients were involved in the prognosis study. . 0.4 The association of lncRNA-HULC polymorphisms with hepatocellular cancer risk and prognosis. NCRV0000002251 29803923 HULC rs1328868 A N/a 521 patients and 817 sex- and age (¡À5) frequency-matched controls in the risk study; among them, 351 hepatocellular cancer patients were involved in the prognosis study. EFO_0000182 N/A No significance for risk Hepatocellular cancer rs1328868-A of HULC and its dysfunction is not significantly associated with hepatocellular cancer by using case-control analysis in 521 patients and 817 sex- and age (¡À5) frequency-matched controls in the risk study; Among them, 351 hepatocellular cancer patients were involved in the prognosis study. . 0.4 The association of lncRNA-HULC polymorphisms with hepatocellular cancer risk and prognosis. NCRV0000002219 29803923 HULC rs2038540 G N/a 521 patients and 817 sex- and age (¡À5) frequency-matched controls in the risk study; among them, 351 hepatocellular cancer patients were involved in the prognosis study. EFO_0000182 Ever smoking Increasing risk Hepatocellular cancer rs2038540-G of HULC and its dysfunction is significantly associated with the increasing risk of hepatocellular cancer by using case-control analysis in 521 patients and 817 sex- and age (¡À5) frequency-matched controls in the risk study; Among them, 351 hepatocellular cancer patients were involved in the prognosis study. . 0.4 The association of lncRNA-HULC polymorphisms with hepatocellular cancer risk and prognosis. NCRV0000000737 29803923 HULC rs76371722 G N/a 521 patients and 817 sex- and age (¡À5) frequency-matched controls in the risk study; among them, 351 hepatocellular cancer patients were involved in the prognosis study. EFO_0000182 N/A No significance for risk Hepatocellular cancer rs76371722-G of HULC and its dysfunction is not significantly associated with hepatocellular cancer by using case-control analysis in 521 patients and 817 sex- and age (¡À5) frequency-matched controls in the risk study; Among them, 351 hepatocellular cancer patients were involved in the prognosis study. . 0.4 The association of lncRNA-HULC polymorphisms with hepatocellular cancer risk and prognosis. NCRV0000001836 29803923 HULC rs7763881 C N/a 521 patients and 817 sex- and age (¡À5) frequency-matched controls in the risk study; among them, 351 hepatocellular cancer patients were involved in the prognosis study. EFO_0000182 N/A No significance for risk Hepatocellular cancer rs7763881-C of HULC and its dysfunction is not significantly associated with hepatocellular cancer by using case-control analysis in 521 patients and 817 sex- and age (¡À5) frequency-matched controls in the risk study; Among them, 351 hepatocellular cancer patients were involved in the prognosis study. . 0.4 The association of lncRNA-HULC polymorphisms with hepatocellular cancer risk and prognosis. NCRV0000000632 29803923 HULC rs17144343 A N/a 521 patients and 817 sex- and age (¡À5) frequency-matched controls in the risk study; among them, 351 hepatocellular cancer patients were involved in the prognosis study. EFO_0000182 N/A No significance for risk Hepatocellular cancer rs17144343-A of HULC and its dysfunction is not significantly associated with hepatocellular cancer by using case-control analysis in 521 patients and 817 sex- and age (¡À5) frequency-matched controls in the risk study; Among them, 351 hepatocellular cancer patients were involved in the prognosis study. . 0.4 The association of lncRNA-HULC polymorphisms with hepatocellular cancer risk and prognosis. NCRV0000002650 29930469 HOTTIP rs17427960 A N/a 521 hepatocellular cancer patients and frequency-matched 817 controls EFO_0000182 N/A Increasing risk Hepatocellular cancer rs17427960-A of HOTTIP and its dysfunction is significantly associated with the increasing risk of hepatocellular cancer by using case-control analysis in 521 hepatocellular cancer patients and frequency-matched 817 controls. 0.4 Association of twelve polymorphisms in three onco-lncRNA genes with hepatocellular cancer risk and prognosis: A case-control study. NCRV0000002705 29930469 HOTTIP rs17501292 G N/a 521 hepatocellular cancer patients and frequency-matched 817 controls EFO_0000182 N/A Increasing risk Hepatocellular cancer rs17501292-G of HOTTIP and its dysfunction is significantly associated with the increasing risk of hepatocellular cancer by using case-control analysis in 521 hepatocellular cancer patients and frequency-matched 817 controls. 0.4 Association of twelve polymorphisms in three onco-lncRNA genes with hepatocellular cancer risk and prognosis: A case-control study. NCRV0000001430 29930469 HOTTIP rs2067087 C N/a 521 hepatocellular cancer patients and frequency-matched 817 controls EFO_0000182 N/A Increasing risk Hepatocellular cancer rs2067087-C of HOTTIP and its dysfunction is significantly associated with the increasing risk of hepatocellular cancer by using case-control analysis in 521 hepatocellular cancer patients and frequency-matched 817 controls. 0.4 Association of twelve polymorphisms in three onco-lncRNA genes with hepatocellular cancer risk and prognosis: A case-control study. NCRV0000002616 29930469 HOTTIP rs3807598 C N/a 521 hepatocellular cancer patients and frequency-matched 817 controls EFO_0000182 N/A Decreasing risk Hepatocellular cancer rs3807598-C of HOTTIP and its dysfunction is significantly associated with the decreasing risk of hepatocellular cancer by using case-control analysis in 521 hepatocellular cancer patients and frequency-matched 817 controls. 0.4 Association of twelve polymorphisms in three onco-lncRNA genes with hepatocellular cancer risk and prognosis: A case-control study. NCRV0000000342 29930469 MALAT1 rs4102217 C N/a 521 hepatocellular cancer patients and frequency-matched 817 controls EFO_0000182 N/A Increasing risk Hepatocellular cancer rs4102217-C of MALAT1 and its dysfunction is significantly associated with the increasing risk of hepatocellular cancer by using case-control analysis in 521 hepatocellular cancer patients and frequency-matched 817 controls. 0.4 Association of twelve polymorphisms in three onco-lncRNA genes with hepatocellular cancer risk and prognosis: A case-control study. NCRV0000001185 17900631 miR-106b rs1527423 G Dominant 96 hcc tissues EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs1527423-G of miR-106b and its dysfunction is not significantly associated with hepatocellular carcinoma by using analysis of sequence variation in 96 HCC tissues. 0.4 Analysis of sequence variations in 59 microRNAs in hepatocellular carcinomas. NCRV0000002543 17900631 miR-106b rs2307353 T Dominant 96 hcc tissues EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs2307353-T of miR-106b and its dysfunction is not significantly associated with hepatocellular carcinoma by using analysis of sequence variation in 96 HCC tissues. 0.4 Analysis of sequence variations in 59 microRNAs in hepatocellular carcinomas. NCRV0000001274 17900631 miR-192 rs528920813 A Dominant 96 hcc tissues EFO_0000182 N/A Increasing risk Hepatocellular carcinoma rs528920813-A of miR-192 and its dysfunction is significantly associated with the increasing risk of hepatocellular carcinoma by using analysis of sequence variation in 96 HCC tissues. 0.4 Analysis of sequence variations in 59 microRNAs in hepatocellular carcinomas. NCRV0000002922 17900631 let-7a-2 rs530823266 T Dominant 96 hcc tissues EFO_0000182 N/A Increasing risk Hepatocellular carcinoma rs530823266-T of let-7a-2 and its dysfunction is significantly associated with the increasing risk of hepatocellular carcinoma by using analysis of sequence variation in 96 HCC tissues. 0.4 Analysis of sequence variations in 59 microRNAs in hepatocellular carcinomas. NCRV0000001213 21080878 miR-196a2 rs11614913 C Dominant 310 patients with hcc and 222 patients without hcc EFO_0000182 N/A Increasing risk Hepatocellular carcinoma rs11614913-C of miR-196a2 and its dysfunction is significantly associated with the increasing risk of hepatocellular carcinoma by using case-control analysis in 310 patients with HCC and 222 patients without HCC. 0.4 A variant in microRNA-196a2 is associated with susceptibility to hepatocellular carcinoma in Chinese patients with cirrhosis. NCRV0000001301 22393998 miR-499 rs3746444 G N/a 222 subjects with hcc and 222 cancer-free control subjects EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs3746444-G of miR-499 and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 222 subjects with HCC and 222 cancer-free control subjects. 0.4 Genetic variation in the microRNA-499 gene and hepatocellular carcinoma risk in a Turkish population: lack of any association in a case-control study. NCRV0000001213 22952151 miR-196a2 rs11614913 T Dominant 4 studies involving 26,018 subjects EFO_0000182 N/A Decreasing risk Hepatocellular carcinoma rs11614913-T of miR-196a2 and its dysfunction is significantly associated with the decreasing risk of hepatocellular carcinoma by using meta-analysis in 4 studies involving 26,018 subjects. 0.4 The association of miR-146a rs2910164 and miR-196a2 rs11614913 polymorphisms with cancer risk: a meta-analysis of 32 studies. NCRV0000002836 23632240 miR-34b/c rs4938723 C Dominant 157 hcc patients and 201 cancer-free control subjects EFO_0000182 N/A Increasing risk Hepatocellular carcinoma rs4938723-C of miR-34b/c and its dysfunction is significantly associated with the increasing risk of hepatocellular carcinoma by using case-control analysis in 157 HCC patients and 201 cancer-free control subjects. 0.4 Promoter polymorphisms of pri-miR-34b/c are associated with hepatocellular carcinoma. NCRV0000003826 24118778 pre-miR-218 rs11134527 G Dominant 1012 healthy controls, 302 hepatitis b surface antigen (hbsag) seroclearance subjects and 2011 subjects with chronic hbv infection (1021 with hepatocellular carcinoma) EFO_0000182 N/A Increasing risk Hepatocellular carcinoma rs11134527-G of pre-miR-218 and its dysfunction is significantly associated with the increasing risk of hepatocellular carcinoma by using case-control analysis in 1012 healthy controls, 302 hepatitis B surface antigen (HBsAg) seroclearance subjects and 2011 subjects with chronic HBV infection (1021 with hepatocellular carcinoma). 0.4 Association of a potential functional pre-miR-218 polymorphism and its interaction with hepatitis B virus mutations with hepatocellular carcinoma risk. NCRV0000001719 24248733 miR196a-2 rs12304647 C N/a 1,439 korean patients with either past or present hbv infection, including 404 control subjects who underwent spontaneous recovery and 1,035 subjects with chronic hbv (313 cases of chronic hepatitis b, 305 cases of cirrhosis of the liver, and 417 cases of hepatocellular carcinoma [hcc]) EFO_0000182 N/A Decreasing risk Hepatocellular carcinoma rs12304647-C of miR196a-2 and its dysfunction is significantly associated with the decreasing risk of hepatocellular carcinoma by using case-control analysis in 1,439 Korean patients with either past or present HBV infection, including 404 control subjects who underwent spontaneous recovery and 1,035 subjects with chronic HBV (313 cases of chronic hepatitis B, 305 cases of cirrhosis of the liver, and 417 cases of hepatocellular carcinoma [HCC]). 0.4 MicroRNA-196A-2 polymorphisms and hepatocellular carcinoma in patients with chronic hepatitis B. NCRV0000000218 24301908 miR-146a rs2910164 C N/a 172 hepatocellular carcinoma patients and 185 cancer-free controls EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs2910164-C of miR-146a and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 172 hepatocellular carcinoma patients and 185 cancer-free controls. 0.4 miR-499A>G rs3746444 and miR-146aG>C expression and hepatocellular carcinoma risk in the Chinese population. NCRV0000001301 24301908 miR-499 rs3746444 G Dominant 172 hepatocellular carcinoma patients and 185 cancer-free controls EFO_0000182 N/A Decreasing risk Hepatocellular carcinoma rs3746444-G of miR-499 and its dysfunction is significantly associated with the decreasing risk of hepatocellular carcinoma by using case-control analysis in 172 hepatocellular carcinoma patients and 185 cancer-free controls. 0.4 miR-499A>G rs3746444 and miR-146aG>C expression and hepatocellular carcinoma risk in the Chinese population. NCRV0000001213 24377545 miRNA196a-2 rs11614913 T Dominant 2,000 large chinese case-control sample EFO_0000182 N/A Decreasing risk Hepatocellular carcinoma rs11614913-T of miRNA196a-2 and its dysfunction is significantly associated with the decreasing risk of Hepatocellular carcinoma by using case-control analysis in 2,000 large Chinese case-control sample. 0.4 Association between single nucleotide polymorphisms in miRNA196a-2 and miRNA146a and susceptibility to hepatocellular carcinoma in a Chinese population. NCRV0000001301 24854593 miR-499 rs3746444 C Dominant 984 patients with hcc and 991 cancer-free controls EFO_0000182 N/A Increasing risk Hepatocellular carcinoma rs3746444-C of miR-499 and its dysfunction is significantly associated with the increasing risk of hepatocellular carcinoma by using case-control analysis in 984 patients with HCC and 991 cancer-free controls. 0.4 Identification of miR-423 and miR-499 polymorphisms on affecting the risk of hepatocellular carcinoma in a large-scale population. NCRV0000002581 24854593 miR-423 rs6505162 C N/a 984 patients with hcc and 991 cancer-free controls EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs6505162-C of miR-423 and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 984 patients with HCC and 991 cancer-free controls. 0.4 Identification of miR-423 and miR-499 polymorphisms on affecting the risk of hepatocellular carcinoma in a large-scale population. NCRV0000002845 24995424 miR-122 rs4309483 A Dominant 1,300 hbv-positive hcc cases, 1,344 hbv carriers, and 1,344 persons who cleared hbv naturally EFO_0000182 N/A Increasing risk Hepatocellular carcinoma rs4309483-A of miR-122 and its dysfunction is significantly associated with the increasing risk of hepatocellular carcinoma by using case-control analysis in 1,300 HBV-positive HCC cases, 1,344 HBV carriers, and 1,344 persons who cleared HBV naturally . By using the disease cell lines or tissues, the mutation of miR-122 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 A genetic variant in microRNA-122 regulatory region confers risk for chronic hepatitis B virus infection and hepatocellular carcinoma in Han Chinese. NCRV0000000433 24995424 miR-122 rs4503880 A N/a 1,300 hbv-positive hcc cases, 1,344 hbv carriers, and 1,344 persons who cleared hbv naturally EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs4503880-A of miR-122 and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 1,300 HBV-positive HCC cases, 1,344 HBV carriers, and 1,344 persons who cleared HBV naturally . 0.4 A genetic variant in microRNA-122 regulatory region confers risk for chronic hepatitis B virus infection and hepatocellular carcinoma in Han Chinese. NCRV0000003832 25177719 miR-646 rs6513497 G Dominant 997 hcc patients and 993 cancer-free controls EFO_0000182 N/A Decreasing risk Hepatocellular carcinoma rs6513497-G of miR-646 and its dysfunction is significantly associated with the decreasing risk of hepatocellular carcinoma by using case-control analysis in 997 HCC patients and 993 cancer-free controls. 0.4 Association between a variant in microRNA-646 and the susceptibility to hepatocellular carcinoma in a large-scale population. NCRV0000003026 26152337 hsa-mir-449b rs10061133 G N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs10061133-G of hsa-mir-449b and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. 0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. NCRV0000002447 26152337 hsa-mir-2053 rs10505168 C N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A Increasing risk Hepatocellular carcinoma rs10505168-C of hsa-mir-2053 and its dysfunction is significantly associated with the increasing risk of hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. 0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. NCRV0000002728 26152337 hsa-mir-943 rs1077020 C N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs1077020-C of hsa-mir-943 and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. 0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. NCRV0000002375 26152337 hsa-mir-603 rs11014002 T N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs11014002-T of hsa-mir-603 and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. 0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. NCRV0000001213 26152337 hsa-mir-196a-2 rs11614913 T N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A Increasing risk Hepatocellular carcinoma rs11614913-T of hsa-mir-196a-2 and its dysfunction is significantly associated with the increasing risk of hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. 0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. NCRV0000003704 26152337 hsa-mir-548a-1 rs12197631 G N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs12197631-G of hsa-mir-548a-1 and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. 0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. NCRV0000003109 26152337 has-mir-4293 rs12220909 C N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs12220909-C of has-mir-4293 and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. 0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. NCRV0000002590 26152337 hsa-mir-202 rs12355840 C N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs12355840-C of hsa-mir-202 and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. 0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. NCRV0000002591 26152337 hsa-mir-938 rs12416605 T N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs12416605-T of hsa-mir-938 and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. 0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. NCRV0000001828 26152337 hsa-mir-612 rs12803915 A N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs12803915-A of hsa-mir-612 and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. 0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. NCRV0000002103 26152337 hsa-mir-300 rs12894467 C N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs12894467-C of hsa-mir-300 and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. 0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. NCRV0000002136 26152337 hsa-mir-605 rs2043556 C N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs2043556-C of hsa-mir-605 and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. 0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. NCRV0000003787 26152337 hsa-mir-1304 rs2155248 G N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs2155248-G of hsa-mir-1304 and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. 0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. NCRV0000002470 26152337 has-mir-3130-1 rs2241347 C N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs2241347-C of has-mir-3130-1 and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. 0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. NCRV0000000686 26152337 hsa-mir-492 rs2289030 C N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs2289030-C of hsa-mir-492 and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. 0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. NCRV0000000589 26152337 hsa-mir-149 rs2292832 T N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs2292832-T of hsa-mir-149 and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. 0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. NCRV0000002790 26152337 hsa-mir-604 rs2368392 A N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs2368392-A of hsa-mir-604 and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. 0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. NCRV0000003359 26152337 hsa-mir-604 rs2368393 G N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs2368393-G of hsa-mir-604 and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. 0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. NCRV0000001228 26152337 hsa-mir-627 rs2620381 C N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A Increasing risk Hepatocellular carcinoma rs2620381-C of hsa-mir-627 and its dysfunction is significantly associated with the increasing risk of hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. 0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. NCRV0000003855 26152337 hsa-mir-1208 rs2648841 T N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs2648841-T of hsa-mir-1208 and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. 0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. NCRV0000000654 26152337 hsa-mir-618 rs2682818 A N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs2682818-A of hsa-mir-618 and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. 0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. NCRV0000003681 26152337 miRNA 1268a rs28599926 T Dominant 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A Increased risk and poor prognosis Hepatocellular carcinoma rs28599926-T of miRNA 1268a and its dysfunction is significantly associated with the increasing risk and poor prognosis of hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. By using the disease cell lines or tissues, the interference of miRNA 1268a has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. NCRV0000001048 26152337 hsa-mir-1255a rs28664200 T N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs28664200-T of hsa-mir-1255a and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. 0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. NCRV0000000218 26152337 hsa-mir-146a rs2910164 C N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs2910164-C of hsa-mir-146a and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. 0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. NCRV0000003507 26152337 hsa-mir-577 rs34115976 G N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs34115976-G of hsa-mir-577 and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. 0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. NCRV0000001301 26152337 hsa-mir-499a rs3746444 G N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs3746444-G of hsa-mir-499a and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. 0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. NCRV0000001896 26152337 hsa-mir-595 rs4909237 T N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs4909237-T of hsa-mir-595 and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. 0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. NCRV0000002472 26152337 hsa-mir-608 rs4919510 G N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs4919510-G of hsa-mir-608 and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. 0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. NCRV0000002939 26152337 hsa-mir-612 rs550894 A N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs550894-A of hsa-mir-612 and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. 0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. NCRV0000002479 26152337 hsa-mir-1283-1 rs57111412 G N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs57111412-G of hsa-mir-1283-1 and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. 0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. NCRV0000000111 26152337 hsa-mir-559 rs58450758 T N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs58450758-T of hsa-mir-559 and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. 0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. NCRV0000001296 26152337 hsa-mir-596 rs61388742 C N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs61388742-C of hsa-mir-596 and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. 0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. NCRV0000002694 26152337 has-mir-3922 rs61938575 A N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs61938575-A of has-mir-3922 and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. 0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. NCRV0000000578 26152337 hsa-mir-412 rs61992671 G N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs61992671-G of hsa-mir-412 and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. 0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. NCRV0000002445 26152337 hsa-mir-585 rs62376934 A N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs62376934-A of hsa-mir-585 and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. 0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. NCRV0000002581 26152337 hsa-mir-423 rs6505162 A N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs6505162-A of hsa-mir-423 and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. 0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. NCRV0000003287 26152337 hsa-mir-646 rs6513496 C N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs6513496-C of hsa-mir-646 and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. 0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. NCRV0000003832 26152337 hsa-mir-646 rs6513497 G N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs6513497-G of hsa-mir-646 and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. 0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. NCRV0000000056 26152337 hsa-mir-149 rs71428439 G N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs71428439-G of hsa-mir-149 and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. 0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. NCRV0000001994 26152337 hsa-mir-1178 rs7311975 C N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs7311975-C of hsa-mir-1178 and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. 0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. NCRV0000000955 26152337 hsa-mir-647 rs73147065 G N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A Increasing risk Hepatocellular carcinoma rs73147065-G of hsa-mir-647 and its dysfunction is significantly associated with the increasing risk of hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. 0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. NCRV0000001542 26152337 hsa-mir-1269a rs73239138 A N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs73239138-A of hsa-mir-1269a and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. 0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. NCRV0000001706 26152337 hsa-mir-662 rs74656628 A N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs74656628-A of hsa-mir-662 and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. 0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. NCRV0000000543 26152337 hsa-mir-1302-3 rs7589328 T N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs7589328-T of hsa-mir-1302-3 and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. 0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. NCRV0000001412 26152337 hsa-mir-629 rs78212770 G N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs78212770-G of hsa-mir-629 and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. 0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. NCRV0000002582 26152337 hsa-mir-1307 rs7911488 G N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs7911488-G of hsa-mir-1307 and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. 0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. NCRV0000002161 26152337 hsa-mir-933 rs79402775 A N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs79402775-A of hsa-mir-933 and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. 0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. NCRV0000003741 26152337 hsa-mir-548h-3 rs9913045 A N/a 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors EFO_0000182 N/A Increasing risk Hepatocellular carcinoma rs9913045-A of hsa-mir-548h-3 and its dysfunction is significantly associated with the increasing risk of hepatocellular carcinoma by using case-control analysis in 1706 hepatocellular carcinoma cases and 2270 controls without any liver diseases or tumors. 0.4 Polymorphisms in the precursor microRNAs and aflatoxin B1-related hepatocellular carcinoma. NCRV0000002977 26324025 SIRT1-AS chr10:69677472 C Dominant 52 patients (26 male and 26 female; average age 49.2¡À18.3 years) EFO_0000182 N/A Decreasing risk Hepatocellular carcinoma chr10:69677472-C of SIRT1-AS and its dysfunction is significantly associated with the decreasing risk of hepatocellular carcinoma by using analysis of sequence variation in 52 patients (26 male and 26 female; average age 49.2¡À18.3 years) . By using the disease cell lines or tissues, the interference and mutation of SIRT1-AS has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 A novel mutation in SIRT1-AS leading to a decreased risk of HCC. NCRV0000000686 26753964 miR-492 rs2289030 G Dominant Blood samples of 362 hcc patients with surgical resection of a hcc tumor EFO_0000182 N/A Better prognosis Hepatocellular carcinoma rs2289030-G of miR-492 and its dysfunction is significantly associated with the better prognosis of hepatocellular carcinoma by using analysis of sequence variation in blood samples of 362 HCC patients with surgical resection of a HCC tumor. 0.4 miR-492G>C polymorphism (rs2289030) is associated with overall survival of hepatocellular carcinoma patients. NCRV0000002125 27310251 miR-501 rs112489955 A N/a 695 patients with hcc and 605 healthy controls EFO_0000182 N/A Increasing risk Hepatocellular carcinoma rs112489955-A of miR-501 and its dysfunction is significantly associated with the increasing risk of Hepatocellular Carcinoma by using case-control analysis in 695 patients with HCC and 605 healthy controls . By using the disease cell lines or tissues, the mutation of miR-501 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 A Function Variant at miR-501 Alters Susceptibility to Hepatocellular Carcinoma in a Chinese Han Population. NCRV0000003180 27323017 let-7 rs10877887 C Dominant 89 hcc patients and 95 healthy controls in a chinese populations EFO_0000182 N/A Increased risk and poor prognosis Hepatocellular carcinoma rs10877887-C of let-7 and its dysfunction is significantly associated with the increasing risk and poor prognosis of Hepatocellular carcinoma by using case-control analysis in 89 HCC patients and 95 healthy controls in a chinese populations. 0.4 A single nucleotide polymorphism in the promoter region (rs10877887) of let-7 is associated with hepatocellular carcinoma in a Chinese population.LID - 10.4238/gmr.15027661 [doi]AB - Hepatocellular carcinoma (HCC) is a complex polygenic diseas NCRV0000001213 27509977 MIR196a2 rs11614913 T Dominant 60 hepatocellular carcinoma (hcc) patients and 150 controls EFO_0000182 N/A Increasing risk Hepatocellular carcinoma rs11614913-T of MIR196a2 and its dysfunction is significantly associated with the increasing risk of hepatocellular carcinoma by using case-control analysis in 60 hepatocellular carcinoma (HCC) patients and 150 controls. 0.4 Combined Genotype Analyses of Precursor miRNA196a2 and 499a Variants with Hepatic and Renal Cancer Susceptibility a Preliminary Study. NCRV0000001301 27509977 MIR499a rs3746444 G Dominant 60 hepatocellular carcinoma (hcc) patients and 150 controls EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs3746444-G of MIR499a and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 60 hepatocellular carcinoma (HCC) patients and 150 controls. 0.4 Combined Genotype Analyses of Precursor miRNA196a2 and 499a Variants with Hepatic and Renal Cancer Susceptibility a Preliminary Study. NCRV0000001542 28081866 microRNA-1269a rs73239138 A Dominant Hepatocellular carcinoma EFO_0000182 N/A Increasing risk Hepatocellular carcinoma rs73239138-A of microRNA-1269a and its dysfunction is significantly associated with the increasing risk of hepatocellular carcinoma by using analysis of sequence variation in hepatocellular carcinoma. By using the disease cell lines or tissues, the interference and mutation of microRNA-1269a has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. Moreover, the ncRNA variation-disease association was validated by complex experiments. 1.4 A single nucleotide variant in microRNA-1269a promotes the occurrence and process of hepatocellular carcinoma by targeting to oncogenes SPATS2L and LRP6. NCRV0000001137 29047230 RP1-228H13.5 RP1-228H13.5 Amplification - Dominant Hepatocellular carcinoma and normal tissues using tcga rna sequencing data EFO_0000182 N/A Poor prognosis Hepatocellular carcinoma Amplification of RP1-228H13.5 and its dysfunction is significantly associated with the poor prognosis of hepatocellular carcinoma by using case-control analysis in hepatocellular carcinoma and normal tissues using TCGA RNA sequencing data. 0.4 A comprehensive genome-wide analysis of long noncoding RNA expression profile in hepatocellular carcinoma. NCRV0000003960 29047230 PVT1 PVT1 Amplification - Dominant Hepatocellular carcinoma and normal tissues using tcga rna sequencing data EFO_0000182 N/A Poor prognosis Hepatocellular carcinoma Amplification of PVT1 and its dysfunction is significantly associated with the poor prognosis of hepatocellular carcinoma by using case-control analysis in hepatocellular carcinoma and normal tissues using TCGA RNA sequencing data. By using the disease cell lines or tissues, the interference of PVT1 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 A comprehensive genome-wide analysis of long noncoding RNA expression profile in hepatocellular carcinoma. NCRV0000001509 29047230 SNHG7 SNHG7 Amplification - Dominant Hepatocellular carcinoma and normal tissues using tcga rna sequencing data EFO_0000182 N/A Poor prognosis Hepatocellular carcinoma Amplification of SNHG7 and its dysfunction is significantly associated with the poor prognosis of hepatocellular carcinoma by using case-control analysis in hepatocellular carcinoma and normal tissues using TCGA RNA sequencing data. By using the disease cell lines or tissues, the interference of SNHG7 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 A comprehensive genome-wide analysis of long noncoding RNA expression profile in hepatocellular carcinoma. NCRV0000000200 29047230 TMCC1-AS1 TMCC1-AS1 Amplification - Dominant Hepatocellular carcinoma and normal tissues using tcga rna sequencing data EFO_0000182 N/A Poor prognosis Hepatocellular carcinoma Amplification of TMCC1-AS1 and its dysfunction is significantly associated with the poor prognosis of hepatocellular carcinoma by using case-control analysis in hepatocellular carcinoma and normal tissues using TCGA RNA sequencing data. 0.4 A comprehensive genome-wide analysis of long noncoding RNA expression profile in hepatocellular carcinoma. NCRV0000002592 29047230 LINC00205 LINC00205 Amplification - Dominant Hepatocellular carcinoma and normal tissues using tcga rna sequencing data EFO_0000182 N/A Poor prognosis Hepatocellular carcinoma Amplification of LINC00205 and its dysfunction is significantly associated with the poor prognosis of hepatocellular carcinoma by using case-control analysis in hepatocellular carcinoma and normal tissues using TCGA RNA sequencing data. 0.4 A comprehensive genome-wide analysis of long noncoding RNA expression profile in hepatocellular carcinoma. NCRV0000001328 29047230 RP11-307C12.11 RP11-307C12.11 Deletion - Dominant Hepatocellular carcinoma EFO_0000182 N/A Poor prognosis Hepatocellular carcinoma Deletion of RP11-307C12.11 and its dysfunction is significantly associated with the poor prognosis of hepatocellular carcinoma by using analysis of sequence variation in hepatocellular carcinoma. 0.4 A comprehensive genome-wide analysis of long noncoding RNA expression profile in hepatocellular carcinoma. NCRV0000002042 29141248 HOTAIR rs1899663 T N/a 482 hepatocellular carcinoma cases and 520 control subjects in a chinese population EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs1899663-T of HOTAIR and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 482 hepatocellular carcinoma cases and 520 control subjects in a chinese population. 0.4 Association of Functional Genetic Variants of HOTAIR with Hepatocellular Carcinoma (HCC) Susceptibility in a Chinese Population. NCRV0000002281 29141248 HOTAIR rs4759314 G N/a 482 hepatocellular carcinoma cases and 520 control subjects in a chinese population EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs4759314-G of HOTAIR and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 482 hepatocellular carcinoma cases and 520 control subjects in a chinese population. 0.4 Association of Functional Genetic Variants of HOTAIR with Hepatocellular Carcinoma (HCC) Susceptibility in a Chinese Population. NCRV0000002596 29141248 HOTAIR rs920778 T Dominant 482 hepatocellular carcinoma cases and 520 control subjects in a chinese population EFO_0000182 N/A Increasing risk Hepatocellular carcinoma rs920778-T of HOTAIR and its dysfunction is significantly associated with the increasing risk of hepatocellular carcinoma by using case-control analysis in 482 hepatocellular carcinoma cases and 520 control subjects in a chinese population. By using the disease cell lines or tissues, the mutation of HOTAIR has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Association of Functional Genetic Variants of HOTAIR with Hepatocellular Carcinoma (HCC) Susceptibility in a Chinese Population. NCRV0000001213 30215231 miR-196a2 rs11614913 C N/a 100 hepatocellular carcinoma patients (70 males and 30 females) and 120 healthy controls (70 males and 50 females) in an iranian population. EFO_0000182 HBV-positive Increasing risk Hepatocellular carcinoma rs11614913-C of miR-196a2 and its dysfunction is significantly associated with the increasing risk of hepatocellular carcinoma by using case-control analysis in 100 hepatocellular carcinoma patients (70 males and 30 females) and 120 healthy controls (70 males and 50 females) in an Iranian Population 0.4 Association of MicroRNA Polymorphisms With Hepatocellular Carcinoma in an Iranian Population. NCRV0000000589 30215231 miR-149 rs2292832 C N/a 100 hepatocellular carcinoma patients (70 males and 30 females) and 120 healthy controls (70 males and 50 females) in an iranian population. EFO_0000182 N/A Increasing risk Hepatocellular carcinoma rs2292832-C of miR-149 and its dysfunction is significantly associated with the increasing risk of hepatocellular carcinoma by using case-control analysis in 100 hepatocellular carcinoma patients (70 males and 30 females) and 120 healthy controls (70 males and 50 females) in an Iranian Population 0.4 Association of MicroRNA Polymorphisms With Hepatocellular Carcinoma in an Iranian Population. NCRV0000000218 30215231 miR-146a rs2910164 C N/a 100 hepatocellular carcinoma patients (70 males and 30 females) and 120 healthy controls (70 males and 50 females) in an iranian population. EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs2910164-C of miR-146a and its dysfunction is not significantly associated with hepatocellular carcinoma by using case-control analysis in 100 hepatocellular carcinoma patients (70 males and 30 females) and 120 healthy controls (70 males and 50 females) in an Iranian Population 0.4 Association of MicroRNA Polymorphisms With Hepatocellular Carcinoma in an Iranian Population. NCRV0000001301 30215231 miR-499 rs3746444 G N/a 100 hepatocellular carcinoma patients (70 males and 30 females) and 120 healthy controls (70 males and 50 females) in an iranian population. EFO_0000182 N/A Increasing risk Hepatocellular carcinoma rs3746444-G of miR-499 and its dysfunction is significantly associated with the increasing risk of hepatocellular carcinoma by using case-control analysis in 100 hepatocellular carcinoma patients (70 males and 30 females) and 120 healthy controls (70 males and 50 females) in an Iranian Population 0.4 Association of MicroRNA Polymorphisms With Hepatocellular Carcinoma in an Iranian Population. NCRV0000003016 28636993 circ-ITCH rs10485505 T Dominant 1,600 hcc cases and 1,800 cancer-free controls EFO_0000182 N/A Increasing risk Hepatocellular carcinoma rs10485505-T of circ-ITCH and its dysfunction is significantly associated with the increasing risk of Hepatocellular carcinoma by using case-control analysis in 1,600 HCC cases and 1,800 cancer-free controls . 0.4 Polymorphisms and expression pattern of circular RNA circ-ITCH contributes to the carcinogenesis of hepatocellular carcinoma. NCRV0000002379 28636993 circ-ITCH rs4911154 A Dominant 1,600 hcc cases and 1,800 cancer-free controls EFO_0000182 N/A Increasing risk Hepatocellular carcinoma rs4911154-A of circ-ITCH and its dysfunction is significantly associated with the increasing risk of Hepatocellular carcinoma by using case-control analysis in 1,600 HCC cases and 1,800 cancer-free controls . 0.4 Polymorphisms and expression pattern of circular RNA circ-ITCH contributes to the carcinogenesis of hepatocellular carcinoma. NCRV0000003187 28636993 circ-ITCH rs6059851 A N/a 1,600 hcc cases and 1,800 cancer-free controls EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs6059851-A of circ-ITCH and its dysfunction is not significantly associated with Hepatocellular carcinoma by using case-control analysis in 1,600 HCC cases and 1,800 cancer-free controls . 0.4 Polymorphisms and expression pattern of circular RNA circ-ITCH contributes to the carcinogenesis of hepatocellular carcinoma. NCRV0000001548 28636993 circ-ITCH rs6120663 A N/a 1,600 hcc cases and 1,800 cancer-free controls EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs6120663-A of circ-ITCH and its dysfunction is not significantly associated with Hepatocellular carcinoma by using case-control analysis in 1,600 HCC cases and 1,800 cancer-free controls . 0.4 Polymorphisms and expression pattern of circular RNA circ-ITCH contributes to the carcinogenesis of hepatocellular carcinoma. NCRV0000003538 28636993 circ-ITCH rs7266300 T N/a 1,600 hcc cases and 1,800 cancer-free controls EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs7266300-T of circ-ITCH and its dysfunction is not significantly associated with Hepatocellular carcinoma by using case-control analysis in 1,600 HCC cases and 1,800 cancer-free controls . 0.4 Polymorphisms and expression pattern of circular RNA circ-ITCH contributes to the carcinogenesis of hepatocellular carcinoma. NCRV0000001832 28636993 circ-ITCH rs11167234 A N/a 1,600 hcc cases and 1,800 cancer-free controls EFO_0000182 N/A No significance for risk Hepatocellular carcinoma rs11167234-A of circ-ITCH and its dysfunction is not significantly associated with Hepatocellular carcinoma by using case-control analysis in 1,600 HCC cases and 1,800 cancer-free controls . 0.4 Polymorphisms and expression pattern of circular RNA circ-ITCH contributes to the carcinogenesis of hepatocellular carcinoma. NCRV0000002237 27531892 miR-155 rs767649 T Dominant 1500 chinese patients with sporadic hcc and 1500 healthy controls EFO_0000182 N/A Increased risk and poor prognosis Hepatocellular carcinoma rs767649-T of miR-155 and its dysfunction is significantly associated with the increasing risk and poor prognosis of hepatocellular carcinoma by using case-control analysis in 1500 Chinese patients with sporadic HCC and 1500 healthy controls. 0.4 MiR-155 and its functional variant rs767649 contribute to the susceptibility and survival of hepatocellular carcinoma. NCRV0000001213 28148887 miR-196a-2 rs11614913 T Dominant 3852 hepatocellular carcinoma cases and 5275 controls EFO_0000182 N/A Decreasing risk Hepatocellular carcinoma rs11614913-T of miR-196a-2 and its dysfunction is significantly associated with the decreasing risk of hepatocellular carcinoma by using meta-analysis in 3852 hepatocellular carcinoma cases and 5275 controls. 0.4 MiR-146a and miR-196a-2 polymorphisms are associated with hepatitis virus-related hepatocellular cancer risk: a meta-analysis. NCRV0000000218 28148887 miR-146a rs2910164 G Dominant 3852 hepatocellular carcinoma cases and 5275 controls EFO_0000182 N/A Increasing risk Hepatocellular carcinoma rs2910164-G of miR-146a and its dysfunction is significantly associated with the increasing risk of hepatocellular carcinoma by using meta-analysis in 3852 hepatocellular carcinoma cases and 5275 controls. 0.4 MiR-146a and miR-196a-2 polymorphisms are associated with hepatitis virus-related hepatocellular cancer risk: a meta-analysis. NCRV0000001213 26365437 miR-196a-2 rs11614913 C Recessive 155 adult patients who underwent primary lt for hcc EFO_0000182 N/A Increased risk and poor prognosis Hepatocellular carcinoma recurrence after liver transplantation rs11614913-C of miR-196a-2 and its dysfunction is significantly associated with the increasing risk and poor prognosis of hepatocellular carcinoma recurrence after liver transplantation by using analysis of sequence variation in 155 adult patients who underwent primary LT for HCC. By using the disease cell lines or tissues, the mutation of miR-196a-2 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Donor miR-196a-2 polymorphism is associated with hepatocellular carcinoma recurrence after liver transplantation in a Han Chinese population. NCRV0000000343 22586447 miR-608 rs4919510 G Recessive The first set including 1,138 sporadic breast cancer patients and 1,434 community-based controls, and the second set including 294 familial/early-onset breast cancer patients and 500 hospital-based cancer-free controls EFO_1000294 N/A Increasing risk Her2-positive breast cancer rs4919510-G of miR-608 and its dysfunction is significantly associated with the increasing risk of HER2-positive breast cancer by using case-control analysis in the first set including 1,138 sporadic breast cancer patients and 1,434 community-based controls, and the second set including 294 familial/early-onset breast cancer patients and 500 hospital-based cancer-free controls. 0.4 Polymorphism rs4919510:C>G in mature sequence of human microRNA-608 contributes to the risk of HER2-positive breast cancer but not other subtypes. NCRV0000001597 25445498 miR-196a2 rs11614913 C Recessive 254 patients and 265 health controls Orphanet_388 N/A Increasing risk Hirschsprung disease rs11614913-C of miR-196a2 and its dysfunction is significantly associated with the increasing risk of Hirschsprung disease by using case-control analysis in 254 patients and 265 health controls. 0.4 A common polymorphism in pre-miR-146a underlies Hirschsprung disease risk in Han Chinese. NCRV0000002416 25445498 miR-146a rs2910164 G Dominant 254 patients and 265 health controls Orphanet_388 N/A Increasing risk Hirschsprung disease rs2910164-G of miR-146a and its dysfunction is significantly associated with the increasing risk of Hirschsprung disease by using case-control analysis in 254 patients and 265 health controls. By using the disease cell lines or tissues, the mutation of miR-146a has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 A common polymorphism in pre-miR-146a underlies Hirschsprung disease risk in Han Chinese. NCRV0000003827 27683269 HOTAIR rs2366152 C N/a 23 hpv16 positive cacx cases, 8 hpv16 positive non-malignant samples, 8 hpv negative controls EFO_1002015 N/A Decreasing risk Hpv16-related cervical cancer pathogenesis rs2366152-C of HOTAIR and its dysfunction is significantly associated with the decreasing risk of HPV16-related cervical cancer pathogenesis by using case-control analysis in 23 HPV16 positive CaCx cases, 8 HPV16 positive non-malignant samples, 8 HPV negative controls. By using the disease cell lines or tissues, the mutation of HOTAIR has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Identification of genetic variation in the lncRNA HOTAIR associated with HPV16-related cervical cancer pathogenesis. NCRV0000001320 27196440 miR-590 rs6971711 T N/a 55 hcm patients and 100 ethnically-matched controls EFO_0000538 N/A Increasing risk Hypertrophic cardiomyopathy rs6971711-T of miR-590 and its dysfunction is significantly associated with the increasing risk of hypertrophic cardiomyopathy by using case-control analysis in 55 HCM patients and 100 ethnically-matched controls. By using the disease cell lines or tissues, the mutation of miR-590 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Common miR-590 Variant rs6971711 Present Only in African Americans Reduces miR-590 Biogenesis. NCRV0000000588 26805933 mir-196a-2 rs11614913 C Dominant 1378 idiopathic infertile males and 486 fertile controls in chinese han population Orphanet_399980 N/A Increasing risk Idiopathic male infertility rs11614913-C of mir-196a-2 and its dysfunction is significantly associated with the increasing risk of idiopathic male infertility by using case-control analysis in 1378 idiopathic infertile males and 486 fertile controls in Chinese Han population. By using the disease cell lines or tissues, the interference of mir-196a-2 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Common SNP in hsa-miR-196a-2 increases hsa-miR-196a-5p expression and predisposes to idiopathic male infertility in Chinese Han population. NCRV0000003926 26805933 mir-146a rs2910164 G N/a 1378 idiopathic infertile males and 486 fertile controls in chinese han population Orphanet_399980 N/A No significance for risk Idiopathic male infertility rs2910164-G of mir-146a and its dysfunction is not significantly associated with idiopathic male infertility by using case-control analysis in 1378 idiopathic infertile males and 486 fertile controls in Chinese Han population. 0.4 Common SNP in hsa-miR-196a-2 increases hsa-miR-196a-5p expression and predisposes to idiopathic male infertility in Chinese Han population. NCRV0000002271 26805933 mir-499 rs3746444 G N/a 1378 idiopathic infertile males and 486 fertile controls in chinese han population Orphanet_399980 N/A No significance for risk Idiopathic male infertility rs3746444-G of mir-499 and its dysfunction is not significantly associated with idiopathic male infertility by using case-control analysis in 1378 idiopathic infertile males and 486 fertile controls in Chinese Han population. 0.4 Common SNP in hsa-miR-196a-2 increases hsa-miR-196a-5p expression and predisposes to idiopathic male infertility in Chinese Han population. NCRV0000003487 26426696 miR-146a rs2910164 G N/a 145 patients with renal biopsy-proved iga nephropathy (igan) and 179 healthy controls EFO_0004194 N/A No significance for risk Iga nephropathy rs2910164-G of miR-146a and its dysfunction is not significantly associated with IgA nephropathy by using case-control analysis in 145 patients with renal biopsy-proved IgA nephropathy (IgAN) and 179 healthy controls . 0.4 Genetic Variation in miR-146a Is Not Associated with Susceptibility to IgA Nephropathy in Adults from a Chinese Han Population. NCRV0000003160 25867405 miR-149 rs71428439 G Dominant 730 unrelated subjects (is, 348; healthy controls, 382). HP_0002140 N/A Decreasing risk Ischemic stroke rs71428439-G of miR-149 and its dysfunction is significantly associated with the decreasing risk of ischemic stroke by using case-control analysis in 730 unrelated subjects (IS, 348; healthy controls, 382) By using the disease cell lines or tissues, the mutation of miR-149 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Effect of a pre-microRNA-149 (miR-149) genetic variation on the risk of ischemic stroke in a Chinese Han population. NCRV0000000336 26114385 miR-146a rs2910164 G N/a 3138 coronary artery disease cases and 3097 controls HP_0002140 N/A No significance for risk Ischemic stroke rs2910164-G of miR-146a and its dysfunction is not significantly associated with ischemic stroke by using meta-analysis in 3138 Coronary artery disease cases and 3097 controls. 0.4 Meta-Analysis of miR-146a Polymorphisms Association with Coronary Artery Diseases and Ischemic Stroke. NCRV0000000939 26608782 miR-196a2 rs11614913 T N/a 2254 ischemic stroke cases and 2506 controls HP_0002140 N/A Increasing risk Ischemic stroke rs11614913-T of miR-196a2 and its dysfunction is significantly associated with the increasing risk of ischemic stroke by using meta-analysis in 2254 ischemic stroke cases and 2506 controls. 0.4 Association Between Single-Nucleotide Polymorphism (SNP) in miR-146a, miR-196a2, and miR-499 and Risk of Ischemic Stroke: A Meta-Analysis. NCRV0000000336 26608782 miR-146a rs2910164 G N/a 378 ischemic stroke cases and 553 controls in korea HP_0002140 N/A Increasing risk Ischemic stroke rs2910164-G of miR-146a and its dysfunction is significantly associated with the increasing risk of ischemic stroke by using meta-analysis in 378 ischemic stroke cases and 553 controls in Korea. 0.4 Association Between Single-Nucleotide Polymorphism (SNP) in miR-146a, miR-196a2, and miR-499 and Risk of Ischemic Stroke: A Meta-Analysis. NCRV0000001962 26608782 miR-499 rs3746444 A N/a 827 ischemic stroke cases and 922 controls in china HP_0002140 N/A Decreasing risk Ischemic stroke rs3746444-A of miR-499 and its dysfunction is significantly associated with the decreasing risk of ischemic stroke by using meta-analysis in 827 ischemic stroke cases and 922 controls in china. 0.4 Association Between Single-Nucleotide Polymorphism (SNP) in miR-146a, miR-196a2, and miR-499 and Risk of Ischemic Stroke: A Meta-Analysis. NCRV0000001648 27011381 miR-618 rs2682818 T Dominant 914 patients with ischemic stroke HP_0002140 N/A Increased risk and poor prognosis Ischemic stroke rs2682818-T of miR-618 and its dysfunction is significantly associated with the increasing risk and poor prognosis of ischemic stroke by using case-control analysis in 914 patients with ischemic stroke. 0.4 Genetic Variants in MicroRNAs Predict Recurrence of Ischemic Stroke. NCRV0000000336 27164084 MicroRNA-146a rs2910164 G Recessive 1139 ischemic stroke patients and 1585 sex- and age-matched control subjects HP_0002140 N/A Poor prognosis and no significance for incidence Ischemic stroke rs2910164-G of MicroRNA-146a and its dysfunction is significantly associated with the poor prognosis of Ischemic Stroke by using case-control analysis in 1139 ischemic stroke patients and 1585 sex- and age-matched control subjects. 0.4 Association of the MicroRNA-146a SNP rs2910164 with Ischemic Stroke Incidence and Prognosis in a Chinese Population.LID - 10.3390/ijms17050660 [doi]LID - E660 [pii]AB - We conducted a case-control study investigating the association between the NCRV0000002067 27603512 miR-495 rs2281611 C N/a 523 ischemic stroke patients and 400 control subjects HP_0002140 N/A No significance for risk Ischemic stroke rs2281611-C of miR-495 and its dysfunction is not significantly associated with ischemic stroke by using case-control analysis in 523 ischemic stroke patients and 400 control subjects. 0.4 Association of the Single Nucleotide Polymorphisms in microRNAs 130b, 200b, and 495 with Ischemic Stroke Susceptibility and Post-Stroke Mortality. NCRV0000002695 27603512 miR-130b rs373001 C N/a 523 ischemic stroke patients and 400 control subjects HP_0002140 N/A No significance for risk Ischemic stroke rs373001-C of miR-130b and its dysfunction is not significantly associated with ischemic stroke by using case-control analysis in 523 ischemic stroke patients and 400 control subjects. 0.4 Association of the Single Nucleotide Polymorphisms in microRNAs 130b, 200b, and 495 with Ischemic Stroke Susceptibility and Post-Stroke Mortality. NCRV0000003583 27603512 miR-200b rs7549819 C Recessive 523 ischemic stroke patients and 400 control subjects HP_0002140 N/A Decreasing risk Ischemic stroke rs7549819-C of miR-200b and its dysfunction is significantly associated with the decreasing risk of ischemic stroke by using case-control analysis in 523 ischemic stroke patients and 400 control subjects. 0.4 Association of the Single Nucleotide Polymorphisms in microRNAs 130b, 200b, and 495 with Ischemic Stroke Susceptibility and Post-Stroke Mortality. NCRV0000001494 26953487 H2A/K chr6:26272485 A Dominant 10 kidney cancer patients EFO_0002890 N/A Increasing risk Kidney cancer chr6:26272485 -A of H2A/K and its dysfunction is significantly associated with the increasing risk of kidney cancer by using analysis of sequence variation in 10 kidney cancer patients . By using the disease cell lines or tissues, the interference and mutation of H2A/K has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 H2A/K pseudogene mutation may promote cell proliferation. NCRV0000002087 26953487 H2A/K chr6:26272731 C Dominant 10 kidney cancer patients EFO_0002890 N/A Increasing risk Kidney cancer chr6:26272731 -C of H2A/K and its dysfunction is significantly associated with the increasing risk of kidney cancer by using analysis of sequence variation in 10 kidney cancer patients . By using the disease cell lines or tissues, the interference and mutation of H2A/K has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 H2A/K pseudogene mutation may promote cell proliferation. NCRV0000001576 26953487 H2A/K rs61747867 T Dominant 10 kidney cancer patients EFO_0002890 N/A Increasing risk Kidney cancer rs61747867 -T of H2A/K and its dysfunction is significantly associated with the increasing risk of kidney cancer by using analysis of sequence variation in 10 kidney cancer patients . By using the disease cell lines or tissues, the interference and mutation of H2A/K has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 H2A/K pseudogene mutation may promote cell proliferation. NCRV0000000591 29705927 miRNA-196a2 rs11614913 C N/a 40 patients with laryngeal squamous cell carcinoma (lscc) EFO_0006352 N/A Increasing risk Laryngeal squamous cell carcinoma rs11614913-C of miRNA-196a2 and its dysfunction is significantly associated with the increasing risk of laryngeal squamous cell carcinoma by using case-control analysis in 40 patients with laryngeal squamous cell carcinoma (LSCC). 0.4 Single nucleotide polymorphism rs11614913 associated with CC genotype in miR-196a2 is overrepresented in laryngeal squamous cell carcinoma, but not salivary gland tumors in Polish population. NCRV0000001101 25187983 miR-196a-2 rs11614913 T N/a 1,098 individuals, includiing 491 patients were recruited from the souza ara¨²jo outpatient unit, located at funda??o oswaldo cruz (fiocruz), rio de janeiro, brazil. the data for 607 controls was obtained from a bone marrow donors' bank in rio de janeiro comprising of samples from local healthy individuals. EFO_0001054 N/A No significance for risk Leprosy rs11614913-T of miR-196a-2 and its dysfunction is not significantly associated with leprosy by using case-control analysis in 1,098 individuals, includiing 491 patients were recruited from the Souza Ara¨²jo outpatient unit, located at Funda??o Oswaldo Cruz (FIOCRUZ), Rio de Janeiro, Brazil. The data for 607 controls was obtained from a bone marrow donors' bank in Rio de Janeiro comprising of samples from local healthy individuals 0.4 Pre-miR-146a (rs2910164 G>C) single nucleotide polymorphism is genetically and functionally associated with leprosy. NCRV0000003790 25187983 miR-125a rs12975333 T N/a 1,098 individuals, includiing 491 patients were recruited from the souza ara¨²jo outpatient unit, located at funda??o oswaldo cruz (fiocruz), rio de janeiro, brazil. the data for 607 controls was obtained from a bone marrow donors' bank in rio de janeiro comprising of samples from local healthy individuals. EFO_0001054 N/A No significance for risk Leprosy rs12975333-T of miR-125a and its dysfunction is not significantly associated with leprosy by using case-control analysis in 1,098 individuals, includiing 491 patients were recruited from the Souza Ara¨²jo outpatient unit, located at Funda??o Oswaldo Cruz (FIOCRUZ), Rio de Janeiro, Brazil. The data for 607 controls was obtained from a bone marrow donors' bank in Rio de Janeiro comprising of samples from local healthy individuals 0.4 Pre-miR-146a (rs2910164 G>C) single nucleotide polymorphism is genetically and functionally associated with leprosy. NCRV0000002071 25187983 miR-146a rs2910164 C Dominant 1,098 individuals, includiing 491 patients were recruited from the souza ara¨²jo outpatient unit, located at funda??o oswaldo cruz (fiocruz), rio de janeiro, brazil. the data for 607 controls was obtained from a bone marrow donors' bank in rio de janeiro comprising of samples from local healthy individuals. EFO_0001054 N/A Increasing risk Leprosy rs2910164-C of miR-146a and its dysfunction is significantly associated with the increasing risk of leprosy by using case-control analysis in 1,098 individuals, includiing 491 patients were recruited from the Souza Ara¨²jo outpatient unit, located at Funda??o Oswaldo Cruz (FIOCRUZ), Rio de Janeiro, Brazil. The data for 607 controls was obtained from a bone marrow donors' bank in Rio de Janeiro comprising of samples from local healthy individuals By using the disease cell lines or tissues, the interference and mutation of miR-146a has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Pre-miR-146a (rs2910164 G>C) single nucleotide polymorphism is genetically and functionally associated with leprosy. NCRV0000002050 25187983 miR-223 rs34952329 T N/a 1,098 individuals, includiing 491 patients were recruited from the souza ara¨²jo outpatient unit, located at funda??o oswaldo cruz (fiocruz), rio de janeiro, brazil. the data for 607 controls was obtained from a bone marrow donors' bank in rio de janeiro comprising of samples from local healthy individuals. EFO_0001054 N/A No significance for risk Leprosy rs34952329-T of miR-223 and its dysfunction is not significantly associated with leprosy by using case-control analysis in 1,098 individuals, includiing 491 patients were recruited from the Souza Ara¨²jo outpatient unit, located at Funda??o Oswaldo Cruz (FIOCRUZ), Rio de Janeiro, Brazil. The data for 607 controls was obtained from a bone marrow donors' bank in Rio de Janeiro comprising of samples from local healthy individuals 0.4 Pre-miR-146a (rs2910164 G>C) single nucleotide polymorphism is genetically and functionally associated with leprosy. NCRV0000002993 28177126 SNORD118 chr17:8076789 G Dominant 8 unrelated families with lcc Orphanet_313838 N/A Increasing risk Leukoencephalopathy with brain calcifications and cysts chr17:8076789-G of SNORD118 and its dysfunction is significantly associated with the increasing risk of Leukoencephalopathy with brain calcifications and cysts by using Pedigree analysis in 8 unrelated families with LCC. 0.4 Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts. NCRV0000003545 28177126 SNORD118 rs117735243 ? Dominant 8 unrelated families with lcc Orphanet_313838 N/A Increasing risk Leukoencephalopathy with brain calcifications and cysts rs117735243-? of SNORD118 and its dysfunction is significantly associated with the increasing risk of Leukoencephalopathy with brain calcifications and cysts by using Pedigree analysis in 8 unrelated families with LCC. 0.4 Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts. NCRV0000001515 28177126 SNORD118 rs146107438 ? Dominant 8 unrelated families with lcc Orphanet_313838 N/A Increasing risk Leukoencephalopathy with brain calcifications and cysts rs146107438-? of SNORD118 and its dysfunction is significantly associated with the increasing risk of Leukoencephalopathy with brain calcifications and cysts by using Pedigree analysis in 8 unrelated families with LCC. 0.4 Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts. NCRV0000003979 28177126 SNORD118 rs201558321 ? Dominant 8 unrelated families with lcc Orphanet_313838 N/A Increasing risk Leukoencephalopathy with brain calcifications and cysts rs201558321-? of SNORD118 and its dysfunction is significantly associated with the increasing risk of Leukoencephalopathy with brain calcifications and cysts by using Pedigree analysis in 8 unrelated families with LCC. 0.4 Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts. NCRV0000000140 28177126 SNORD118 rs368022715 ? Dominant 8 unrelated families with lcc Orphanet_313838 N/A Increasing risk Leukoencephalopathy with brain calcifications and cysts rs368022715-? of SNORD118 and its dysfunction is significantly associated with the increasing risk of Leukoencephalopathy with brain calcifications and cysts by using Pedigree analysis in 8 unrelated families with LCC. 0.4 Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts. NCRV0000000042 28177126 SNORD118 rs374791151 ? Dominant 8 unrelated families with lcc Orphanet_313838 N/A Increasing risk Leukoencephalopathy with brain calcifications and cysts rs374791151-? of SNORD118 and its dysfunction is significantly associated with the increasing risk of Leukoencephalopathy with brain calcifications and cysts by using Pedigree analysis in 8 unrelated families with LCC. 0.4 Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts. NCRV0000003632 28177126 SNORD118 rs562912181 ? Dominant 8 unrelated families with lcc Orphanet_313838 N/A Increasing risk Leukoencephalopathy with brain calcifications and cysts rs562912181-? of SNORD118 and its dysfunction is significantly associated with the increasing risk of Leukoencephalopathy with brain calcifications and cysts by using Pedigree analysis in 8 unrelated families with LCC. 0.4 Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts. NCRV0000001906 28177126 SNORD118 rs750457525 A Dominant 8 unrelated families with lcc Orphanet_313838 N/A Increasing risk Leukoencephalopathy with brain calcifications and cysts rs750457525-A of SNORD118 and its dysfunction is significantly associated with the increasing risk of Leukoencephalopathy with brain calcifications and cysts by using Pedigree analysis in 8 unrelated families with LCC. 0.4 Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts. NCRV0000000218 21861697 miR-146a rs2910164 G N/a 186 primary liver cancer cases and 483 healthy controls EFO_0000182 N/A No significance for risk Liver cancers rs2910164-G of miR-146a and its dysfunction is not significantly associated with liver cancers by using case-control analysis in 186 primary liver cancer cases and 483 healthy controls. 0.4 Association between two genetic variants in miRNA and primary liver cancer risk in the Chinese population. NCRV0000001301 21861697 miR-499 rs3746444 C N/a 186 primary liver cancer cases and 483 healthy controls EFO_0000182 N/A No significance for risk Liver cancers rs3746444-C of miR-499 and its dysfunction is not significantly associated with liver cancers by using case-control analysis in 186 primary liver cancer cases and 483 healthy controls. 0.4 Association between two genetic variants in miRNA and primary liver cancer risk in the Chinese population. NCRV0000000764 27381831 miR-608 rs4919510 C Recessive Pre ( n = 113) and post ( n = 122) neo-adjuvant treatment ffpe biopsies in 155 out of 164 eligible patients EFO_1000657 N/A Poor prognosis Locally advanced rectal cancer rs4919510-C of miR-608 and its dysfunction is significantly associated with the poor prognosis of locally advanced rectal cancer by using case-control analysis in pre ( n = 113) and post ( n = 122) neo-adjuvant treatment FFPE biopsies in 155 out of 164 eligible patients. 0.4 Sequence variation in mature microRNA-608 and benefit from neo-adjuvant treatment in locally advanced rectal cancer patients. NCRV0000003408 25966223 let-7 rs10877887 C Dominant 69 lung cancer patients and 75 healthy controls in chinese EFO_0000571 N/A Increasing risk Lung adenocarcinoma cancer rs10877887-C of let-7 and its dysfunction is significantly associated with the increasing risk of lung adenocarcinoma cancer by using case-control analysis in 69 lung cancer patients and 75 healthy controls in Chinese. 0.4 A single nucleotide polymorphism in the promoter region of let-7 family is associated with lung cancer risk in Chinese. NCRV0000002398 19293314 hsa-mir-196a2 rs11614913 CC N/a 1,058 incident lung cancer patients and 1,035 cancer-free controls EFO_0001071 N/A Increasing risk Lung cancer rs11614913 -CC of hsa-mir-196a2 and its dysfunction is significantly associated with the increasing risk of lung cancer by using case-control analysis in 1,058 incident lung cancer patients and 1,035 cancer-free controls. 0.4 A functional genetic variant in microRNA-196a2 is associated with increased susceptibility of lung cancer in Chinese. NCRV0000002914 19293314 miRNA-149 rs2292832 ? N/a 1,058 incident lung cancer patients and 1,035 cancer-free controls EFO_0001071 N/A No significance for risk Lung cancer rs2292832-? of miRNA-149 and its dysfunction is not significantly associated with lung cancer by using case-control analysis in 1,058 incident lung cancer patients and 1,035 cancer-free controls. 0.4 A functional genetic variant in microRNA-196a2 is associated with increased susceptibility of lung cancer in Chinese. NCRV0000001765 19293314 has-miR-146a rs2910164 C N/a 1,058 incident lung cancer patients and 1,035 cancer-free controls EFO_0001071 N/A No significance for risk Lung cancer rs2910164-C of has-miR-146a and its dysfunction is not significantly associated with lung cancer by using case-control analysis in 1,058 incident lung cancer patients and 1,035 cancer-free controls. 0.4 A functional genetic variant in microRNA-196a2 is associated with increased susceptibility of lung cancer in Chinese. NCRV0000003497 19293314 miRNA-499 rs3746444 G N/a 1,058 incident lung cancer patients and 1,035 cancer-free controls EFO_0001071 N/A No significance for risk Lung cancer rs3746444-G of miRNA-499 and its dysfunction is not significantly associated with lung cancer by using case-control analysis in 1,058 incident lung cancer patients and 1,035 cancer-free controls. 0.4 A functional genetic variant in microRNA-196a2 is associated with increased susceptibility of lung cancer in Chinese. NCRV0000003656 25614447 hsa-mir-5579 rs11237828 C N/a 576 patients with lung cancer in a southern chinese population, and the significant results were validated in two additional cohorts of 346 and 368 patients, respectively EFO_0001071 N/A No significance for risk Lung cancer rs11237828-C of hsa-mir-5579 and its dysfunction is not significantly associated with Lung Cancer by using case-control analysis in 576 patients with lung cancer in a southern Chinese population, and the significant results were validated in two additional cohorts of 346 and 368 patients, respectively. 0.4 Sequence Variation in Mature MicroRNA-499 Confers Unfavorable Prognosis of Lung Cancer Patients Treated with Platinum-Based Chemotherapy. NCRV0000003202 25614447 hsa-mir-4293 rs12220909 C N/a 576 patients with lung cancer in a southern chinese population, and the significant results were validated in two additional cohorts of 346 and 368 patients, respectively EFO_0001071 N/A No significance for risk Lung cancer rs12220909-C of hsa-mir-4293 and its dysfunction is not significantly associated with Lung Cancer by using case-control analysis in 576 patients with lung cancer in a southern Chinese population, and the significant results were validated in two additional cohorts of 346 and 368 patients, respectively. 0.4 Sequence Variation in Mature MicroRNA-499 Confers Unfavorable Prognosis of Lung Cancer Patients Treated with Platinum-Based Chemotherapy. NCRV0000002879 25614447 hsa-mir-3152 rs13299349 A N/a 576 patients with lung cancer in a southern chinese population, and the significant results were validated in two additional cohorts of 346 and 368 patients, respectively EFO_0001071 N/A No significance for risk Lung cancer rs13299349-A of hsa-mir-3152 and its dysfunction is not significantly associated with Lung Cancer by using case-control analysis in 576 patients with lung cancer in a southern Chinese population, and the significant results were validated in two additional cohorts of 346 and 368 patients, respectively. 0.4 Sequence Variation in Mature MicroRNA-499 Confers Unfavorable Prognosis of Lung Cancer Patients Treated with Platinum-Based Chemotherapy. NCRV0000001676 25614447 hsa-mir-4513 rs2168518 A N/a 576 patients with lung cancer in a southern chinese population, and the significant results were validated in two additional cohorts of 346 and 368 patients, respectively EFO_0001071 N/A No significance for risk Lung cancer rs2168518-A of hsa-mir-4513 and its dysfunction is not significantly associated with Lung Cancer by using case-control analysis in 576 patients with lung cancer in a southern Chinese population, and the significant results were validated in two additional cohorts of 346 and 368 patients, respectively. 0.4 Sequence Variation in Mature MicroRNA-499 Confers Unfavorable Prognosis of Lung Cancer Patients Treated with Platinum-Based Chemotherapy. NCRV0000003497 25614447 hsa-mir-499 rs3746444 C Dominant 576 patients with lung cancer in a southern chinese population, and the significant results were validated in two additional cohorts of 346 and 368 patients, respectively EFO_0001071 cisplatinum Poor prognosis Lung cancer rs3746444-C of hsa-mir-499 and its dysfunction is significantly associated with the poor prognosis of Lung Cancer by using case-control analysis in 576 patients with lung cancer in a southern Chinese population, and the significant results were validated in two additional cohorts of 346 and 368 patients, respectively. By using the disease cell lines or tissues, the mutation of hsa-mir-499 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. Moreover, the ncRNA variation-disease association was validated by complex experiments. Furthermore, the physiological function of hsa-mir-499(mutation or interference expression) is documented by organism models in vivo such as xenograft or transgenic model etc. 2 Sequence Variation in Mature MicroRNA-499 Confers Unfavorable Prognosis of Lung Cancer Patients Treated with Platinum-Based Chemotherapy. NCRV0000002736 25614447 hsa-mir-608 rs4919510 G N/a 576 patients with lung cancer in a southern chinese population, and the significant results were validated in two additional cohorts of 346 and 368 patients, respectively EFO_0001071 N/A No significance for risk Lung cancer rs4919510-G of hsa-mir-608 and its dysfunction is not significantly associated with Lung Cancer by using case-control analysis in 576 patients with lung cancer in a southern Chinese population, and the significant results were validated in two additional cohorts of 346 and 368 patients, respectively. 0.4 Sequence Variation in Mature MicroRNA-499 Confers Unfavorable Prognosis of Lung Cancer Patients Treated with Platinum-Based Chemotherapy. NCRV0000001516 25614447 hsa-mir-4520a rs8078913 C N/a 576 patients with lung cancer in a southern chinese population, and the significant results were validated in two additional cohorts of 346 and 368 patients, respectively EFO_0001071 N/A No significance for risk Lung cancer rs8078913-C of hsa-mir-4520a and its dysfunction is not significantly associated with Lung Cancer by using case-control analysis in 576 patients with lung cancer in a southern Chinese population, and the significant results were validated in two additional cohorts of 346 and 368 patients, respectively. 0.4 Sequence Variation in Mature MicroRNA-499 Confers Unfavorable Prognosis of Lung Cancer Patients Treated with Platinum-Based Chemotherapy. NCRV0000001500 25614447 hsa-mir-5689 rs9295535 C N/a 576 patients with lung cancer in a southern chinese population, and the significant results were validated in two additional cohorts of 346 and 368 patients, respectively EFO_0001071 N/A No significance for risk Lung cancer rs9295535-C of hsa-mir-5689 and its dysfunction is not significantly associated with Lung Cancer by using case-control analysis in 576 patients with lung cancer in a southern Chinese population, and the significant results were validated in two additional cohorts of 346 and 368 patients, respectively. 0.4 Sequence Variation in Mature MicroRNA-499 Confers Unfavorable Prognosis of Lung Cancer Patients Treated with Platinum-Based Chemotherapy. NCRV0000002398 26235181 miR-196a2 rs11614913 T Dominant 250 lung cancer cases and 255 controls EFO_0001071 N/A Increased risk and poor prognosis Lung cancer rs11614913-T of miR-196a2 and its dysfunction is significantly associated with the increasing risk and poor prognosis of lung cancer by using case-control analysis in 250 lung cancer cases and 255 controls. 0.4 Functional genetic variants in pre-miR-146a and 196a2 genes are associated with risk of lung cancer in North Indians. NCRV0000001765 26235181 miR-146a rs2910164 C Dominant 250 lung cancer cases and 255 controls EFO_0001071 N/A Increasing risk Lung cancer rs2910164-C of miR-146a and its dysfunction is significantly associated with the increasing risk of lung cancer by using case-control analysis in 250 lung cancer cases and 255 controls. 0.4 Functional genetic variants in pre-miR-146a and 196a2 genes are associated with risk of lung cancer in North Indians. NCRV0000002398 26973201 miR-196a2 rs11614913 C N/a 575 patients with lung cancer and 608 healthy controls EFO_0001071 N/A No significance for risk Lung cancer rs11614913-C of miR-196a2 and its dysfunction is not significantly associated with lung cancer by using case-control analysis in 575 patients with lung cancer and 608 healthy controls . 0.4 Association between polymorphisms in pre-miRNA genes and risk of lung cancer in a Chinese non-smoking female population. NCRV0000001765 26973201 miR-146a rs2910164 G Dominant 575 patients with lung cancer and 608 healthy controls EFO_0001071 N/A Decreasing risk Lung cancer rs2910164-G of miR-146a and its dysfunction is significantly associated with the decreasing risk of lung cancer by using case-control analysis in 575 patients with lung cancer and 608 healthy controls . 0.4 Association between polymorphisms in pre-miRNA genes and risk of lung cancer in a Chinese non-smoking female population. NCRV0000002736 26973201 miR-608 rs4919510 C N/a 575 patients with lung cancer and 608 healthy controls EFO_0001071 N/A No significance for risk Lung cancer rs4919510-C of miR-608 and its dysfunction is not significantly associated with lung cancer by using case-control analysis in 575 patients with lung cancer and 608 healthy controls . 0.4 Association between polymorphisms in pre-miRNA genes and risk of lung cancer in a Chinese non-smoking female population. NCRV0000003097 26973201 miR-423 rs6505162 A Dominant 575 patients with lung cancer and 608 healthy controls EFO_0001071 N/A Decreasing risk Lung cancer rs6505162-A of miR-423 and its dysfunction is significantly associated with the decreasing risk of lung cancer by using case-control analysis in 575 patients with lung cancer and 608 healthy controls . 0.4 Association between polymorphisms in pre-miRNA genes and risk of lung cancer in a Chinese non-smoking female population. NCRV0000001910 26973201 miR-27a rs895819 C N/a 575 patients with lung cancer and 608 healthy controls EFO_0001071 N/A No significance for risk Lung cancer rs895819-C of miR-27a and its dysfunction is not significantly associated with lung cancer by using case-control analysis in 575 patients with lung cancer and 608 healthy controls . 0.4 Association between polymorphisms in pre-miRNA genes and risk of lung cancer in a Chinese non-smoking female population. NCRV0000001552 26973201 miR-30C-1 rs928508 G N/a 575 patients with lung cancer and 608 healthy controls EFO_0001071 N/A No significance for risk Lung cancer rs928508-G of miR-30C-1 and its dysfunction is not significantly associated with lung cancer by using case-control analysis in 575 patients with lung cancer and 608 healthy controls . 0.4 Association between polymorphisms in pre-miRNA genes and risk of lung cancer in a Chinese non-smoking female population. NCRV0000002895 27249003 CASC8 rs10505477 G N/a 498 lung cancer patients and 213 healthy control subjects EFO_0000571 N/A Decreasing risk Lung cancer rs10505477-G of CASC8 and its dysfunction is significantly associated with the decreasing risk of lung cancer by using case-control analysis in 498 lung cancer patients and 213 healthy control subjects. 0.4 Clinical Significance of Long Non-Coding RNA CASC8 rs10505477 Polymorphism in Lung Cancer Susceptibility, Platinum-Based Chemotherapy Response, and Toxicity.LID - 10.3390/ijerph13060545 [doi]LID - E545 [pii]AB - Long non-coding RNA (lncRNA) CAS NCRV0000002398 27342110 miR-196a2 rs11614913 T Dominant 230 cancer patients (including 17 types of cancer), 26 patients with pre-cancer lesions, and 100 unrelated controls. EFO_0001071 N/A Increasing risk Lung cancer rs11614913-T of miR-196a2 and its dysfunction is significantly associated with the increasing risk of lung cancer by using case-control analysis in 230 cancer patients (including 17 types of cancer), 26 patients with pre-cancer lesions, and 100 unrelated controls. . 0.4 MicroRNA-196a2 Biomarker and Targetome Network Analysis in Solid Tumors. NCRV0000002628 27713484 NEXN-AS1 rs114020893 C N/a 17,153 cases and 239,337 controls EFO_0001071 N/A Increasing risk Lung cancer rs114020893-C of NEXN-AS1 and its dysfunction is significantly associated with the increasing risk of Lung Cancer by using meta-analysis in 17,153 cases and 239,337 controls. 0.4 A Novel Genetic Variant in Long Non-coding RNA Gene NEXN-AS1 is Associated with Risk of Lung Cancer. NCRV0000001026 27885248 miR-205 rs3842530 type13/13 Recessive 286 patients, out of which 93 were benign, and 391 cases of breast tissues, out of which 197 were benign EFO_0001071 N/A Decreasing risk Lung cancer rs3842530-type13/13 of miR-205 and its dysfunction is significantly associated with the decreasing risk of lung cancer by using analysis of sequence variation in 286 patients, out of which 93 were benign, and 391 cases of breast tissues, out of which 197 were benign. 0.4 Rs3842530 Polymorphism in MicroRNA-205 Host Gene in Lung and Breast Cancer Patients. NCRV0000000155 27910778 miR513c rs145416750 ? N/a Schizophrenia EFO_0001071 N/A No significance for risk Lung cancer rs145416750-? of miR513c and its dysfunction is not significantly associated with lung cancer by using analysis of sequence variation in Schizophrenia. 0.4 miRSNPs of miR1274 and miR3202 Genes that Target MeCP2 and DNMT3b Are Associated with Lung Cancer Risk: A Study Conducted on MassARRAY Genotyping. NCRV0000001871 27910778 miR3202 rs188912830 C Dominant Lung cancer EFO_0001071 N/A Decreasing risk Lung cancer rs188912830-C of miR3202 and its dysfunction is significantly associated with the decreasing risk of lung cancer by using analysis of sequence variation in lung cancer. 0.4 miRSNPs of miR1274 and miR3202 Genes that Target MeCP2 and DNMT3b Are Associated with Lung Cancer Risk: A Study Conducted on MassARRAY Genotyping. NCRV0000000597 27910778 hsa-mir-1274a rs318039 ? N/a Lung cancer EFO_0001071 N/A No significance for risk Lung cancer rs318039-? of hsa-mir-1274a and its dysfunction is not significantly associated with lung cancer by using analysis of sequence variation in lung cancer. 0.4 miRSNPs of miR1274 and miR3202 Genes that Target MeCP2 and DNMT3b Are Associated with Lung Cancer Risk: A Study Conducted on MassARRAY Genotyping. NCRV0000002482 27910778 miR200b rs72563729 ? N/a Cancer EFO_0001071 N/A No significance for risk Lung cancer rs72563729-? of miR200b and its dysfunction is not significantly associated with lung cancer by using analysis of sequence variation in cancer. 0.4 miRSNPs of miR1274 and miR3202 Genes that Target MeCP2 and DNMT3b Are Associated with Lung Cancer Risk: A Study Conducted on MassARRAY Genotyping. NCRV0000001765 27911870 miR-146a rs2910164 C Recessive 1131 patients with lung cancer and 1003 healthy control subjects EFO_0001071 N/A Increasing risk Lung cancer rs2910164-C of miR-146a and its dysfunction is significantly associated with the increasing risk of lung cancer by using case-control analysis in 1131 patients with lung cancer and 1003 healthy control subjects. By using the disease cell lines or tissues, the mutation of miR-146a has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 MiR-146a polymorphism correlates with lung cancer risk in Chinese nonsmoking females. NCRV0000001474 28510306 miR-1262 rs12740674 T Dominant 7,763 subjects (discovery stage: 2,331 cases and 3,077 controls; validation stage: 1,065 cases and 1,290 controls). EFO_0001071 N/A Increasing risk Lung cancer rs12740674-T of miR-1262 and its dysfunction is significantly associated with the increasing risk of lung cancer by using case-control analysis in 7,763 subjects (discovery stage: 2,331 cases and 3,077 controls; validation stage: 1,065 cases and 1,290 controls) By using the disease cell lines or tissues, the interference of miR-1262 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 A polymorphism in miR-1262 regulatory region confers the risk of lung cancer in Chinese population. NCRV0000001790 29878850 LINC01395 rs10750417 ? N/a 395 lung cancer cases and 556 controls in a chinese never-smoking female population EFO_0001071 N/A No significance for risk Lung cancer rs10750417-? of LINC01395 and its dysfunction is not significantly associated with Lung Cancer by using case-control analysis in 395 Lung Cancer cases and 556 controls in a Chinese Never-Smoking Female Population. 0.4 Association Between Four Polymorphisms in lncRNA and Risk of Lung Cancer in a Chinese Never-Smoking Female Population. NCRV0000000324 29878850 LINC01395 rs1814343 ? N/a 395 lung cancer cases and 556 controls in a chinese never-smoking female population EFO_0001071 N/A No significance for risk Lung cancer rs1814343-? of LINC01395 and its dysfunction is not significantly associated with Lung Cancer by using case-control analysis in 395 Lung Cancer cases and 556 controls in a Chinese Never-Smoking Female Population. 0.4 Association Between Four Polymorphisms in lncRNA and Risk of Lung Cancer in a Chinese Never-Smoking Female Population. NCRV0000002564 29878850 CASC16 rs3803662 C Recessive 395 lung cancer cases and 556 controls in a chinese never-smoking female population EFO_0001071 N/A Decreasing risk Lung cancer rs3803662-C of CASC16 and its dysfunction is significantly associated with the decreasing risk of Lung Cancer by using case-control analysis in 395 Lung Cancer cases and 556 controls in a Chinese Never-Smoking Female Population. 0.4 Association Between Four Polymorphisms in lncRNA and Risk of Lung Cancer in a Chinese Never-Smoking Female Population. NCRV0000002823 29878850 AC007603.1 rs4785367 C Recessive 395 lung cancer cases and 556 controls in a chinese never-smoking female population EFO_0001071 N/A Decreasing risk Lung cancer rs4785367-C of AC007603.1 and its dysfunction is significantly associated with the decreasing risk of Lung Cancer by using case-control analysis in 395 Lung Cancer cases and 556 controls in a Chinese Never-Smoking Female Population. 0.4 Association Between Four Polymorphisms in lncRNA and Risk of Lung Cancer in a Chinese Never-Smoking Female Population. NCRV0000003385 30113224 MEG3 rs4081134 A N/a 526 lung cancer patients and 526 healthy controls in chinese northeast population EFO_0001071 N/A Decreasing risk Lung cancer rs4081134-A of MEG3 and its dysfunction is significantly associated with the decreasing risk of Lung Cancer by using case-control analysis in 526 lung cancer patients and 526 healthy controls in Chinese Northeast Population. 0.4 Association Between Long Noncoding RNA MEG3 Polymorphisms and Lung Cancer Susceptibility in Chinese Northeast Population. NCRV0000002104 30113224 MEG3 rs7158663 A N/a 526 lung cancer patients and 526 healthy controls in chinese northeast population EFO_0001071 N/A No significance for risk Lung cancer rs7158663-A of MEG3 and its dysfunction is not significantly associated with Lung Cancer by using case-control analysis in 526 lung cancer patients and 526 healthy controls in Chinese Northeast Population. 0.4 Association Between Long Noncoding RNA MEG3 Polymorphisms and Lung Cancer Susceptibility in Chinese Northeast Population. NCRV0000000097 30219045 H19 rs17658052 A N/a 556 female never smoking lung cancer patients and 395 cancer-free controls EFO_0001071 N/A No significance for risk Lung cancer rs17658052-A of H19 and its dysfunction is not significantly associated with lung cancer by using case-control analysis in 556 female never smoking lung cancer patients and 395 cancer-free controls. 0.4 Polymorphisms in the H19 gene and the risk of lung Cancer among female never smokers in Shenyang, China. NCRV0000001433 30219045 H19 rs2107425 T Dominant 556 female never smoking lung cancer patients and 395 cancer-free controls EFO_0001071 N/A Increasing risk Lung cancer rs2107425-T of H19 and its dysfunction is significantly associated with the increasing risk of lung cancer by using case-control analysis in 556 female never smoking lung cancer patients and 395 cancer-free controls. 0.4 Polymorphisms in the H19 gene and the risk of lung Cancer among female never smokers in Shenyang, China. NCRV0000001207 30219045 H19 rs217727 T N/a 556 female never smoking lung cancer patients and 395 cancer-free controls EFO_0001071 N/A No significance for risk Lung cancer rs217727-T of H19 and its dysfunction is not significantly associated with lung cancer by using case-control analysis in 556 female never smoking lung cancer patients and 395 cancer-free controls. 0.4 Polymorphisms in the H19 gene and the risk of lung Cancer among female never smokers in Shenyang, China. NCRV0000001260 30219045 H19 rs2735469 T N/a 556 female never smoking lung cancer patients and 395 cancer-free controls EFO_0001071 N/A No significance for risk Lung cancer rs2735469-T of H19 and its dysfunction is not significantly associated with lung cancer by using case-control analysis in 556 female never smoking lung cancer patients and 395 cancer-free controls. 0.4 Polymorphisms in the H19 gene and the risk of lung Cancer among female never smokers in Shenyang, China. NCRV0000002398 22952151 miR-196a2 rs11614913 T Dominant 3 studies involving 26,018 subjects EFO_0001071 N/A Decreasing risk Lung carcinoma rs11614913-T of miR-196a2 and its dysfunction is significantly associated with the decreasing risk of lung carcinoma by using meta-analysis in 3 studies involving 26,018 subjects. 0.4 The association of miR-146a rs2910164 and miR-196a2 rs11614913 polymorphisms with cancer risk: a meta-analysis of 32 studies. NCRV0000003214 18356149 miR-362 rs370341989 T Dominant >100 human tumor tissues and 20 cancer cell lines EFO_0004289 N/A Increasing risk Lymphoblastic leukemia rs370341989-T of miR-362 and its dysfunction is significantly associated with the increasing risk of Lymphoblastic leukemia by using case-control analysis in >100 human tumor tissues and 20 cancer cell lines. 0.4 Genetic variations of microRNAs in human cancer and their effects on the expression of miRNAs. NCRV0000000946 19584924 miR-30b hsa-mir-30b Amplification - Dominant Over 800 cancer cell lines EFO_0002939 N/A Increasing risk Medulloblastoma Amplification of miR-30b and its dysfunction is significantly associated with the increasing risk of Medulloblastoma by using analysis of sequence variation in over 800 cancer cell lines. By using the disease cell lines or tissues, the interference of miR-30b has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Amplification and overexpression of Hsa-miR-30b, Hsa-miR-30d and KHDRBS3 at 8q24.22-q24.23 in medulloblastoma. NCRV0000003969 19584924 miR-30d hsa-mir-30d Amplification - Dominant Over 800 cancer cell lines EFO_0002939 N/A Increasing risk Medulloblastoma Amplification of miR-30d and its dysfunction is significantly associated with the increasing risk of Medulloblastoma by using analysis of sequence variation in over 800 cancer cell lines. By using the disease cell lines or tissues, the interference of miR-30d has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Amplification and overexpression of Hsa-miR-30b, Hsa-miR-30d and KHDRBS3 at 8q24.22-q24.23 in medulloblastoma. NCRV0000002906 21793975 miR-33b hsa-mir-33b Amplification - Dominant 48 medulloblastomas EFO_0002939 N/A Increasing risk Medulloblastomas Amplification of miR-33b and its dysfunction is significantly associated with the increasing risk of medulloblastomas by using analysis of sequence variation in 48 medulloblastomas. 0.4 Genetic alterations in microRNAs in medulloblastomas. NCRV0000000888 21793975 miR-135a-2 hsa-mir-135a-2 Amplification - Dominant 48 medulloblastomas EFO_0002939 N/A Increasing risk Medulloblastomas Amplification of miR-135a-2 and its dysfunction is significantly associated with the increasing risk of medulloblastomas by using analysis of sequence variation in 48 medulloblastomas. 0.4 Genetic alterations in microRNAs in medulloblastomas. NCRV0000001149 21793975 miR-135b hsa-mir-135b Amplification - Dominant 48 medulloblastomas EFO_0002939 N/A Increasing risk Medulloblastomas Amplification of miR-135b and its dysfunction is significantly associated with the increasing risk of medulloblastomas by using analysis of sequence variation in 48 medulloblastomas. 0.4 Genetic alterations in microRNAs in medulloblastomas. NCRV0000000298 21793975 miR-33b chr17:17717170 A Dominant 48 medulloblastomas EFO_0002939 N/A Increasing risk Medulloblastomas chr17:17717170-A of miR-33b and its dysfunction is significantly associated with the increasing risk of medulloblastomas by using analysis of sequence variation in 48 medulloblastomas. 0.4 Genetic alterations in microRNAs in medulloblastomas. NCRV0000003183 21793975 miR-33b hsa-mir-33b Deletion - Dominant 48 medulloblastomas EFO_0002939 N/A Increasing risk Medulloblastomas Deletion of miR-33b and its dysfunction is significantly associated with the increasing risk of medulloblastomas by using analysis of sequence variation in 48 medulloblastomas. 0.4 Genetic alterations in microRNAs in medulloblastomas. NCRV0000002963 21793975 miR-135a-1 hsa-mir-135a-1 Deletion - Dominant 48 medulloblastomas EFO_0002939 N/A Increasing risk Medulloblastomas Deletion of miR-135a-1 and its dysfunction is significantly associated with the increasing risk of medulloblastomas by using analysis of sequence variation in 48 medulloblastomas. 0.4 Genetic alterations in microRNAs in medulloblastomas. NCRV0000002215 21793975 miR-135a-2 hsa-mir-135a-2 Deletion - Dominant 48 medulloblastomas EFO_0002939 N/A Increasing risk Medulloblastomas Deletion of miR-135a-2 and its dysfunction is significantly associated with the increasing risk of medulloblastomas by using analysis of sequence variation in 48 medulloblastomas. 0.4 Genetic alterations in microRNAs in medulloblastomas. NCRV0000002144 21793975 miR-135b hsa-mir-135b Deletion - Dominant 48 medulloblastomas EFO_0002939 N/A Increasing risk Medulloblastomas Deletion of miR-135b and its dysfunction is significantly associated with the increasing risk of medulloblastomas by using analysis of sequence variation in 48 medulloblastomas. 0.4 Genetic alterations in microRNAs in medulloblastomas. NCRV0000001016 21793975 miR-186 hsa-mir-186 Deletion - Dominant 48 medulloblastomas EFO_0002939 N/A Increasing risk Medulloblastomas Deletion of miR-186 and its dysfunction is significantly associated with the increasing risk of medulloblastomas by using analysis of sequence variation in 48 medulloblastomas. 0.4 Genetic alterations in microRNAs in medulloblastomas. NCRV0000000051 21793975 miR-512-2 hsa-mir-512-2 Deletion - Dominant 48 medulloblastomas EFO_0002939 N/A Increasing risk Medulloblastomas Deletion of miR-512-2 and its dysfunction is significantly associated with the increasing risk of medulloblastomas by using analysis of sequence variation in 48 medulloblastomas. 0.4 Genetic alterations in microRNAs in medulloblastomas. NCRV0000000668 21793975 miR-548d-1 hsa-mir-548d-1 Deletion - Dominant 48 medulloblastomas EFO_0002939 N/A Increasing risk Medulloblastomas Deletion of miR-548d-1 and its dysfunction is significantly associated with the increasing risk of medulloblastomas by using analysis of sequence variation in 48 medulloblastomas. 0.4 Genetic alterations in microRNAs in medulloblastomas. NCRV0000000006 21793975 miR-548d-2 hsa-mir-548d-2 Deletion - Dominant 48 medulloblastomas EFO_0002939 N/A Increasing risk Medulloblastomas Deletion of miR-548d-2 and its dysfunction is significantly associated with the increasing risk of medulloblastomas by using analysis of sequence variation in 48 medulloblastomas. 0.4 Genetic alterations in microRNAs in medulloblastomas. NCRV0000003063 24550252 miR-146a rs2910164 G Dominant The same patient (n = 10) and primary cutaneous malignant melanoma and metastases from the same patient (n = 15) EFO_0000756 N/A Increasing risk Melanoma rs2910164-G of miR-146a and its dysfunction is significantly associated with the increasing risk of melanoma by using case-control analysis in the same patient (n = 10) and primary cutaneous malignant melanoma and metastases from the same patient (n = 15). By using the disease cell lines or tissues, the interference and mutation of miR-146a has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. Moreover, the ncRNA variation-disease association was validated by complex experiments. 1.4 miR-146a promotes the initiation and progression of melanoma by activating Notch signaling. NCRV0000003354 25944848 LOC100505718 rs16935279 C Dominant 1334 individuals diagnosed with a severe mental disorder in norwegian EFO_0000677 N/A Poor prognosis Mental or behavioural disorder rs16935279-C of LOC100505718 and its dysfunction is significantly associated with the poor prognosis of mental or behavioural disorder by using analysis of sequence variation in 1334 individuals diagnosed with a severe mental disorder in Norwegian. 0.4 Genome-wide association study identifies common variants associated with pharmacokinetics of psychotropic drugs. NCRV0000001120 27188998 miR-124 rs531564 G N/a 307 mtle patients and 306 healthy controls Orphanet_99701 N/A No significance for risk Mesial temporal lobe epilepsy rs531564-G of miR-124 and its dysfunction is not significantly associated with mesial temporal lobe epilepsy by using case-control analysis in 307 MTLE patients and 306 healthy controls. 0.4 An SNP site in pri-miR-124, a brain expressed miRNA gene, no contribution to mesial temporal lobe epilepsy in an Italian sample. NCRV0000003262 26178671 let-7 rs10877887 C N/a 503 metabolic syndrome patients and 529 normal controls in a chinese population EFO_0000195 N/A Increasing risk Metabolic syndrome rs10877887-C of let-7 and its dysfunction is significantly associated with the increasing risk of metabolic syndrome by using case-control analysis in 503 metabolic syndrome patients and 529 normal controls in a Chinese population. 0.4 Let-7 related genetic variation and risk of metabolic syndrome in a Chinese population. NCRV0000001978 26178671 let-7 rs10993081 G N/a 503 metabolic syndrome patients and 529 normal controls in a chinese population EFO_0000195 N/A Increasing risk Metabolic syndrome rs10993081-G of let-7 and its dysfunction is significantly associated with the increasing risk of metabolic syndrome by using case-control analysis in 503 metabolic syndrome patients and 529 normal controls in a Chinese population. 0.4 Let-7 related genetic variation and risk of metabolic syndrome in a Chinese population. NCRV0000001410 26178671 let-7 rs111742 A N/a 503 metabolic syndrome patients and 529 normal controls in a chinese population EFO_0000195 N/A No significance for risk Metabolic syndrome rs111742-A of let-7 and its dysfunction is not significantly associated with metabolic syndrome by using case-control analysis in 503 metabolic syndrome patients and 529 normal controls in a Chinese population. 0.4 Let-7 related genetic variation and risk of metabolic syndrome in a Chinese population. NCRV0000001181 26178671 let-7 rs12976445 T N/a 503 metabolic syndrome patients and 529 normal controls in a chinese population EFO_0000195 N/A No significance for risk Metabolic syndrome rs12976445-T of let-7 and its dysfunction is not significantly associated with metabolic syndrome by using case-control analysis in 503 metabolic syndrome patients and 529 normal controls in a Chinese population. 0.4 Let-7 related genetic variation and risk of metabolic syndrome in a Chinese population. NCRV0000000075 26178671 let-7 rs17276588 A Dominant 503 metabolic syndrome patients and 529 normal controls in a chinese population EFO_0000195 N/A Increasing risk Metabolic syndrome rs17276588-A of let-7 and its dysfunction is significantly associated with the increasing risk of metabolic syndrome by using case-control analysis in 503 metabolic syndrome patients and 529 normal controls in a Chinese population. 0.4 Let-7 related genetic variation and risk of metabolic syndrome in a Chinese population. NCRV0000002970 26178671 let-7 rs7045890 G N/a 503 metabolic syndrome patients and 529 normal controls in a chinese population EFO_0000195 N/A No significance for risk Metabolic syndrome rs7045890-G of let-7 and its dysfunction is not significantly associated with metabolic syndrome by using case-control analysis in 503 metabolic syndrome patients and 529 normal controls in a Chinese population. 0.4 Let-7 related genetic variation and risk of metabolic syndrome in a Chinese population. NCRV0000000001 26178671 let-7 rs712 T N/a 503 metabolic syndrome patients and 529 normal controls in a chinese population EFO_0000195 N/A No significance for risk Metabolic syndrome rs712-T of let-7 and its dysfunction is not significantly associated with metabolic syndrome by using case-control analysis in 503 metabolic syndrome patients and 529 normal controls in a Chinese population. 0.4 Let-7 related genetic variation and risk of metabolic syndrome in a Chinese population. NCRV0000001327 28628559 miR-1206 rs2114358 G Recessive 117 pediatric all patients treated with 5 g/m mtx (dcog all-10) EFO_0006313 methotrexate Increasing risk Methotrexate-induced oral mucositis in pediatric acute lymphoblastic leukemia rs2114358-G of miR-1206 and its dysfunction is significantly associated with the increasing risk of methotrexate-induced oral mucositis in pediatric acute lymphoblastic leukemia by using analysis of sequence variation in 117 pediatric ALL patients treated with 5 g/m MTX (DCOG ALL-10). 0.4 The miR-1206 microRNA variant is associated with methotrexate-induced oral mucositis in pediatric acute lymphoblastic leukemia. NCRV0000001056 20237425 miR-128b chr3:35785980 G Dominant Mll-af4 acute lymphocytic leukemia EFO_0000220 N/A Increasing risk Mll-af4 acute lymphocytic leukemia chr3:35785980-G of miR-128b and its dysfunction is significantly associated with the increasing risk of MLL-AF4 acute lymphocytic leukemia by using analysis of sequence variation in MLL-AF4 acute lymphocytic leukemia. 0.4 A novel mutation in the miR-128b gene reduces miRNA processing and leads to glucocorticoid resistance of MLL-AF4 acute lymphocytic leukemia cells. NCRV0000003511 20621067 miR-126 rs4636297 G N/a Mll-af4 all patient EFO_0000220 N/A Decreasing risk Mll-af4 all rs4636297-G of miR-126 and its dysfunction is significantly associated with the decreasing risk of MLL-AF4 ALL by using analysis of sequence variation in MLL-AF4 ALL patient. By using the disease cell lines or tissues, the mutation of miR-126 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Alteration of processing induced by a single nucleotide polymorphism in pri-miR-126. NCRV0000003756 22982201 MIR-137 rs1625579 T Recessive Cases (n=399) and controls (n=171) EFO_0004247 N/A Increasing risk Mood congruent psychotic symptoms rs1625579-T of MIR-137 and its dysfunction is significantly associated with the increasing risk of Mood congruent psychotic symptoms by using case-control analysis in cases (n=399) and controls (n=171). 0.4 Mood congruent psychotic symptoms and specific cognitive deficits in carriers of the novel schizophrenia risk variant at MIR-137. NCRV0000000340 22659075 miRNA-196a2 rs11614913 T Recessive 107 patients with moyamoya disease and 240 healthy controls Orphanet_2573 N/A Decreasing risk Moyamoya disease rs11614913-T of miRNA-196a2 and its dysfunction is significantly associated with the decreasing risk of moyamoya disease by using case-control analysis in 107 patients with moyamoya disease and 240 healthy controls. 0.4 Association of the miR-146aC>G, miR-196a2C>T, and miR-499A>G polymorphisms with moyamoya disease in the Korean population. NCRV0000001470 22659075 miRNA-146a rs2910164 G N/a 107 patients with moyamoya disease and 240 healthy controls Orphanet_2573 N/A No significance for risk Moyamoya disease rs2910164-G of miRNA-146a and its dysfunction is not significantly associated with moyamoya disease by using case-control analysis in 107 patients with moyamoya disease and 240 healthy controls. 0.4 Association of the miR-146aC>G, miR-196a2C>T, and miR-499A>G polymorphisms with moyamoya disease in the Korean population. NCRV0000002373 22659075 miRNA-499 rs3746444 G N/a 107 patients with moyamoya disease and 240 healthy controls Orphanet_2573 N/A No significance for risk Moyamoya disease rs3746444-G of miRNA-499 and its dysfunction is not significantly associated with moyamoya disease by using case-control analysis in 107 patients with moyamoya disease and 240 healthy controls. 0.4 Association of the miR-146aC>G, miR-196a2C>T, and miR-499A>G polymorphisms with moyamoya disease in the Korean population. NCRV0000003799 23873935 miR-149 rs71428439 G Dominant 289 mi and 296 controls EFO_0000612 N/A Increasing risk Myocardial infarction rs71428439-G of miR-149 and its dysfunction is significantly associated with the increasing risk of myocardial infarction by using case-control analysis in 289 MI and 296 controls. By using the disease cell lines or tissues, the interference and mutation of miR-149 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. Moreover, the ncRNA variation-disease association was validated by complex experiments. 1.4 A pre-microRNA-149 (miR-149) genetic variation affects miR-149 maturation and its ability to regulate the Puma protein in apoptosis. NCRV0000003158 25032714 ANRIL rs1333049 C Dominant 988 patients from an angiologic outpatient ward at a large university hospital EFO_0000612 N/A Increasing risk Myocardial infarction rs1333049-C of ANRIL and its dysfunction is significantly associated with the increasing risk of myocardial infarction by using case-control analysis in 988 patients from an angiologic outpatient ward at a large University hospital. 0.4 9p21.3 risk locus is associated with first-ever myocardial infarction in an Austrian cohort. NCRV0000001262 29304813 miR-218 rs11134527 G N/a 287 myocardial infarction cases and 646 control subjects EFO_0000612 N/A No significance for risk Myocardial infarction rs11134527-G of miR-218 and its dysfunction is not significantly associated with myocardial infarction by using case-control analysis in 287 myocardial infarction cases and 646 control subjects. 0.4 The association between pre-miR-27a rs895819 polymorphism and myocardial infarction risk in a Chinese Han population. NCRV0000000730 29304813 miR-100 rs1834306 T N/a 287 myocardial infarction cases and 646 control subjects EFO_0000612 N/A No significance for risk Myocardial infarction rs1834306-T of miR-100 and its dysfunction is not significantly associated with myocardial infarction by using case-control analysis in 287 myocardial infarction cases and 646 control subjects. 0.4 The association between pre-miR-27a rs895819 polymorphism and myocardial infarction risk in a Chinese Han population. NCRV0000000829 29304813 miR-126 rs4636297 A N/a 287 myocardial infarction cases and 646 control subjects EFO_0000612 N/A No significance for risk Myocardial infarction rs4636297-A of miR-126 and its dysfunction is not significantly associated with myocardial infarction by using case-control analysis in 287 myocardial infarction cases and 646 control subjects. 0.4 The association between pre-miR-27a rs895819 polymorphism and myocardial infarction risk in a Chinese Han population. NCRV0000002127 29304813 miR-26a-1 rs7372209 T N/a 287 myocardial infarction cases and 646 control subjects EFO_0000612 N/A No significance for risk Myocardial infarction rs7372209-T of miR-26a-1 and its dysfunction is not significantly associated with myocardial infarction by using case-control analysis in 287 myocardial infarction cases and 646 control subjects. 0.4 The association between pre-miR-27a rs895819 polymorphism and myocardial infarction risk in a Chinese Han population. NCRV0000003796 29304813 miR-27a rs895819 A Dominant 287 myocardial infarction cases and 646 control subjects EFO_0000612 N/A Decreasing risk Myocardial infarction rs895819-A of miR-27a and its dysfunction is significantly associated with the decreasing risk of myocardial infarction by using case-control analysis in 287 myocardial infarction cases and 646 control subjects. 0.4 The association between pre-miR-27a rs895819 polymorphism and myocardial infarction risk in a Chinese Han population. NCRV0000002236 22711332 miRNA-146a rs2910164 C N/a 233 npc patients, 173 matched controls and 3613 healthy elderly subjects EFO_1000058 N/A Increasing risk Nasopharyngeal carcinoma rs2910164-C of miRNA-146a and its dysfunction is significantly associated with the increasing risk of nasopharyngeal carcinoma by using case-control analysis in 233 NPC patients, 173 matched controls and 3613 healthy elderly subjects. By using the disease cell lines or tissues, the mutation of miRNA-146a has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 A single nucleotide polymorphism in microRNA-146a is associated with the risk for nasopharyngeal carcinoma. NCRV0000002978 23796562 miR-608 rs4919510 G Dominant 1665 patients EFO_1000058 N/A Poor prognosis Nasopharyngeal carcinoma rs4919510-G of miR-608 and its dysfunction is significantly associated with the poor prognosis of nasopharyngeal carcinoma by using analysis of sequence variation in 1665 patients. By using the disease cell lines or tissues, the interference and mutation of miR-608 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. Moreover, the ncRNA variation-disease association was validated by complex experiments. Furthermore, the physiological function of miR-608(mutation or interference expression) is documented by organism models in vivo such as xenograft or transgenic model etc. 2 A sequence polymorphism in miR-608 predicts recurrence after radiotherapy for nasopharyngeal carcinoma. NCRV0000002405 25517750 NBAT-1 rs6939340 G Dominant For rna sequencing, a set of 15 tumors were selected: three clinical low-risk (cohn et al., 2009) with a numerical only genotype (car¨¦n et al., 2010), and 12 high-risk tumors with mycn-amplification (n = 6) and 11q deletion (n = 6). in cohort i, a total of 106 swedish and two german patients were included according to ethical permit number (dnr 2011/354), it was approved by regional ethical review board, uppsala university, uppsala, and informed consent from the legal guardian was secured. in cohort ii, rna-seq data from 498 patients was used. EFO_0000621 N/A Increasing risk Neuroblastoma rs6939340-G of NBAT-1 and its dysfunction is significantly associated with the increasing risk of neuroblastoma by using case-control analysis in For RNA sequencing, a set of 15 tumors were selected: three clinical low-risk (Cohn et al., 2009) with a numerical only genotype (Car¨¦n et al., 2010), and 12 high-risk tumors with MYCN-amplification (n = 6) and 11q deletion (n = 6). In cohort I, a total of 106 Swedish and two German patients were included according to ethical permit number (Dnr 2011/354), it was approved by Regional Ethical Review Board, Uppsala University, Uppsala, and informed consent from the legal guardian was secured. In cohort II, RNA-seq data from 498 patients was used By using the disease cell lines or tissues, the interference and mutation of NBAT-1 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. Moreover, the ncRNA variation-disease association was validated by complex experiments. Furthermore, the physiological function of NBAT-1(mutation or interference expression) is documented by organism models in vivo such as xenograft or transgenic model etc. 2 The risk-associated long noncoding RNA NBAT-1 controls neuroblastoma progression by regulating cell proliferation and neuronal differentiation. NCRV0000000731 26100672 CASC15-S rs9295534 A Dominant European ancestry cohort of 2,101 neuroblastoma cases and 4,202 controls EFO_0000621 N/A Increasing risk Neuroblastoma rs9295534-A of CASC15-S and its dysfunction is significantly associated with the increasing risk of Neuroblastoma by using genome-wide association analysis in European ancestry cohort of 2,101 neuroblastoma cases and 4,202 controls. By using the disease cell lines or tissues, the interference and mutation of CASC15-S has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. Moreover, the ncRNA variation-disease association was validated by complex experiments. 1.4 CASC15-S Is a Tumor Suppressor lncRNA at the 6p22 Neuroblastoma Susceptibility Locus. NCRV0000002371 28206970 lnc-JAM2-6 rs2829145 C Dominant Two-stage (exploratory, n = 96 and replication, n = 390) EFO_0003095 N/A Increasing risk Nonalcoholic fatty liver disease rs2829145-C of lnc-JAM2-6 and its dysfunction is significantly associated with the increasing risk of nonalcoholic fatty liver disease by using case-control analysis in two-stage (exploratory, n = 96 and replication, n = 390). 0.4 Genetic variation in long noncoding RNAs and the risk of nonalcoholic fatty liver disease. NCRV0000001736 22347493 miR-155 rs928883 A N/a 569 cases and 547 controls EFO_0005952 N/A Increasing risk Non-hodgkin lymphoma rs928883-A of miR-155 and its dysfunction is significantly associated with the increasing risk of non-Hodgkin lymphoma by using case-control analysis in 569 cases and 547 controls. 0.4 Genetic variation in cell death genes and risk of non-Hodgkin lymphoma. NCRV0000003489 25154761 miR-146a rs2910164 C Recessive 400 nsclc patients and 400 cancer-free healthy controls in the chinese population EFO_0003060 N/A Increasing risk Nonsmall cell lung cancer rs2910164-C of miR-146a and its dysfunction is significantly associated with the increasing risk of nonsmall cell lung cancer by using case-control analysis in 400 NSCLC patients and 400 cancer-free healthy controls in the Chinese population. By using the disease cell lines or tissues, the mutation of miR-146a has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 MicroRNA-146a rs2910164 polymorphism is associated with susceptibility to non-small cell lung cancer in the Chinese population. NCRV0000000697 18521189 hsa-mir-149 rs2292832 TT Recessive 663 individuals with non-small cell lung cancer EFO_0003060 N/A Poor prognosis Non-small cell lung cancer rs2292832-TT of hsa-mir-149 and its dysfunction is significantly associated with the increasing risk of non-small cell lung cancer by using case-control analysis in 663 individuals with non-small cell lung cancer. 0.4 Genetic variants of miRNA sequences and non-small cell lung cancer survival. NCRV0000002255 18521189 hsa-mir-196a2 rs11614913 CC Recessive 663 individuals with non-small cell lung cancer EFO_0003060 N/A Poor prognosis Non-small cell lung cancer rs11614913-CC of hsa-mir-196a2 and its dysfunction is significantly associated with the increasing risk of non-small cell lung cancer by using case-control analysis in 663 individuals with non-small cell lung cancer. By using the disease cell lines or tissues, the mutation of hsa-mir-196a2 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Genetic variants of miRNA sequences and non-small cell lung cancer survival. NCRV0000001461 21849855 miR-101 hsa-mir-101-1 Deletion - Dominant 1,236 lung cancer specimens and 20 lung carcinoma in situ samples EFO_0003060 N/A Increasing risk Non-small cell lung cancer Deletion of miR-101 and its dysfunction is significantly associated with the increasing risk of non-small cell lung cancer by using analysis of sequence variation in 1,236 lung cancer specimens and 20 lung carcinoma in situ samples. By using the disease cell lines or tissues, the mutation of miR-101 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 miR-101 DNA copy loss is a prominent subtype specific event in lung cancer. NCRV0000002255 22818121 miR-196a2 rs11614913 C N/a 388 patients with nsclc EFO_0003060 N/A Decreasing risk Non-small cell lung cancer rs11614913-C of miR-196a2 and its dysfunction is significantly associated with the decreasing risk of non-small cell lung cancer by using analysis of sequence variation in 388 patients with NSCLC. 0.4 The prognostic impact of microRNA sequence polymorphisms on the recurrence of patients with completely resected non-small cell lung cancer. NCRV0000003165 22818121 miR-219-1 rs213210 G N/a 388 patients with nsclc EFO_0003060 N/A No significance for risk Non-small cell lung cancer rs213210-G of miR-219-1 and its dysfunction is not significantly associated with non-small cell lung cancer by using analysis of sequence variation in 388 patients with NSCLC. 0.4 The prognostic impact of microRNA sequence polymorphisms on the recurrence of patients with completely resected non-small cell lung cancer. NCRV0000002710 22818121 miR-492 rs2289030 C N/a 388 patients with nsclc EFO_0003060 N/A No significance for risk Non-small cell lung cancer rs2289030-C of miR-492 and its dysfunction is not significantly associated with non-small cell lung cancer by using analysis of sequence variation in 388 patients with NSCLC. 0.4 The prognostic impact of microRNA sequence polymorphisms on the recurrence of patients with completely resected non-small cell lung cancer. NCRV0000003489 22818121 miR-146a rs2910164 G N/a 388 patients with nsclc EFO_0003060 N/A Decreasing risk Non-small cell lung cancer rs2910164-G of miR-146a and its dysfunction is significantly associated with the decreasing risk of non-small cell lung cancer by using analysis of sequence variation in 388 patients with NSCLC. 0.4 The prognostic impact of microRNA sequence polymorphisms on the recurrence of patients with completely resected non-small cell lung cancer. NCRV0000001282 22818121 miR-423 rs6505162 A N/a 388 patients with nsclc EFO_0003060 N/A No significance for risk Non-small cell lung cancer rs6505162-A of miR-423 and its dysfunction is not significantly associated with non-small cell lung cancer by using analysis of sequence variation in 388 patients with NSCLC. 0.4 The prognostic impact of microRNA sequence polymorphisms on the recurrence of patients with completely resected non-small cell lung cancer. NCRV0000001996 22818121 miR-26a-1 rs7372209 T N/a 388 patients with nsclc EFO_0003060 N/A No significance for risk Non-small cell lung cancer rs7372209-T of miR-26a-1 and its dysfunction is not significantly associated with non-small cell lung cancer by using analysis of sequence variation in 388 patients with NSCLC. 0.4 The prognostic impact of microRNA sequence polymorphisms on the recurrence of patients with completely resected non-small cell lung cancer. NCRV0000001859 22818121 miR-27a rs895819 C N/a 388 patients with nsclc EFO_0003060 N/A No significance for risk Non-small cell lung cancer rs895819-C of miR-27a and its dysfunction is not significantly associated with non-small cell lung cancer by using analysis of sequence variation in 388 patients with NSCLC. 0.4 The prognostic impact of microRNA sequence polymorphisms on the recurrence of patients with completely resected non-small cell lung cancer. NCRV0000001859 24223174 miR-27a rs895819 G Dominant 576 non-small cell lung cancer patients in a chinese population. EFO_0003060 N/A Poor prognosis Non-small cell lung cancer rs895819-G of miR-27a and its dysfunction is significantly associated with the poor prognosis of non-small cell lung cancer by using case-control analysis in 576 non-small cell lung cancer patients in a Chinese population 0.4 A genetic polymorphism in pre-miR-27a confers clinical outcome of non-small cell lung cancer in a Chinese population. NCRV0000001951 25103824 mir-5197 rs2042253 C Dominant 452 early-stage and 526 late-stage nsclc cases in a caucasian population EFO_0003060 N/A Decreasing risk Non-small cell lung cancer rs2042253-C of mir-5197 and its dysfunction is significantly associated with the decreasing risk of non-small cell lung cancer by using case-control analysis in 452 early-stage and 526 late-stage NSCLC cases in a Caucasian population. 0.4 Polymorphisms in MicroRNAs are associated with survival in non-small cell lung cancer. NCRV0000003353 25103824 mir-4742 rs7522956 C Dominant 452 early-stage and 526 late-stage nsclc cases in a caucasian population EFO_0003060 N/A Increasing risk Non-small cell lung cancer rs7522956-C of mir-4742 and its dysfunction is significantly associated with the increasing risk of non-small cell lung cancer by using case-control analysis in 452 early-stage and 526 late-stage NSCLC cases in a Caucasian population. 0.4 Polymorphisms in MicroRNAs are associated with survival in non-small cell lung cancer. NCRV0000001250 25103824 hsa-mir-182 chr7: 129197463 T Dominant 453 early-stage and 526 late-stage nsclc cases in a caucasian population EFO_0003060 N/A Increasing risk Non-small cell lung cancer chr7: 129197463-T of hsa-mir-182 and its dysfunction is significantly associated with the increasing risk of non-small cell lung cancer by using case-control analysis in 453 early-stage and 526 late-stage NSCLC cases in a Caucasian population. 0.4 Polymorphisms in MicroRNAs are associated with survival in non-small cell lung cancer. NCRV0000001859 25773791 miR-27a rs895819 G Dominant 560 clinical confirmed cases and 568 healthy check-up individuals EFO_0003060 N/A Increasing risk Non-small cell lung cancer rs895819-G of miR-27a and its dysfunction is significantly associated with the increasing risk of non-small cell lung cancer by using case-control analysis in 560 clinical confirmed cases and 568 healthy check-up individuals. 0.4 Rs895819 within miR-27a might be involved in development of non small cell lung cancer in the Chinese Han population. NCRV0000002991 26077004 let-7 rs61764370 G N/a 311 non-small cell lung cancer samples EFO_0003060 N/A No significance for risk Non-small cell lung cancer rs61764370-G of let-7 and its dysfunction is not significantly associated with non-small cell lung cancer by using analysis of sequence variation in 311 non-small cell lung cancer samples. 0.4 Comparison of the prevalence of KRAS-LCS6 polymorphism (rs61764370) within different tumour types (colorectal, breast, non-small cell lung cancer and brain tumours). A study of the Czech population. NCRV0000003961 26625972 let-7 rs10739971 A N/a 761 patients with surgically resected non-small cell lung cancer EFO_0003060 N/A No significance for risk Non-small cell lung cancer rs10739971-A of let-7 and its dysfunction is not significantly associated with non-small cell lung cancer by using analysis of sequence variation in 761 patients with surgically resected non-small cell lung cancer. 0.4 The pri-let-7a-2 rs1143770C>T is associated with prognosis of surgically resected non-small cell lung cancer. NCRV0000001326 26625972 let-7 rs1143770 T Dominant 761 patients with surgically resected non-small cell lung cancer EFO_0003060 N/A Better prognosis Non-small cell lung cancer rs1143770-T of let-7 and its dysfunction is significantly associated with the better prognosis of non-small cell lung cancer by using analysis of sequence variation in 761 patients with surgically resected non-small cell lung cancer. 0.4 The pri-let-7a-2 rs1143770C>T is associated with prognosis of surgically resected non-small cell lung cancer. NCRV0000003334 26625972 let-7 rs17276588 A N/a 761 patients with surgically resected non-small cell lung cancer EFO_0003060 N/A No significance for risk Non-small cell lung cancer rs17276588-A of let-7 and its dysfunction is not significantly associated with non-small cell lung cancer by using analysis of sequence variation in 761 patients with surgically resected non-small cell lung cancer. 0.4 The pri-let-7a-2 rs1143770C>T is associated with prognosis of surgically resected non-small cell lung cancer. NCRV0000002989 26625972 let-7 rs629367 C N/a 761 patients with surgically resected non-small cell lung cancer EFO_0003060 N/A No significance for risk Non-small cell lung cancer rs629367-C of let-7 and its dysfunction is not significantly associated with non-small cell lung cancer by using analysis of sequence variation in 761 patients with surgically resected non-small cell lung cancer. 0.4 The pri-let-7a-2 rs1143770C>T is associated with prognosis of surgically resected non-small cell lung cancer. NCRV0000000118 27374108 miR-30a rs763354 A Dominant 1341 non-small cell lung cancer (nsclc) cases and 1982 controls EFO_0003060 N/A Decreasing risk Non-small cell lung cancer rs763354-A of miR-30a and its dysfunction is significantly associated with the decreasing risk of non-small cell lung cancer by using case-control analysis in 1341 non-small cell lung cancer (NSCLC) cases and 1982 controls. 0.4 Genetic variants in regulatory regions of microRNAs are associated with lung cancer risk. NCRV0000001316 27374108 miR-200b rs9660710 A Dominant 1341 non-small cell lung cancer (nsclc) cases and 1982 controls EFO_0003060 N/A Increasing risk Non-small cell lung cancer rs9660710-A of miR-200b and its dysfunction is significantly associated with the increasing risk of non-small cell lung cancer by using case-control analysis in 1341 non-small cell lung cancer (NSCLC) cases and 1982 controls. 0.4 Genetic variants in regulatory regions of microRNAs are associated with lung cancer risk. NCRV0000002563 27374108 miR-200a rs9660710 A Dominant 1341 non-small cell lung cancer (nsclc) cases and 1982 controls EFO_0003060 N/A Increasing risk Non-small cell lung cancer rs9660710-A of miR-200a and its dysfunction is significantly associated with the increasing risk of non-small cell lung cancer by using case-control analysis in 1341 non-small cell lung cancer (NSCLC) cases and 1982 controls. 0.4 Genetic variants in regulatory regions of microRNAs are associated with lung cancer risk. NCRV0000002026 27374108 miR-429 rs9660710 A Dominant 1341 non-small cell lung cancer (nsclc) cases and 1982 controls EFO_0003060 N/A Increasing risk Non-small cell lung cancer rs9660710-A of miR-429 and its dysfunction is significantly associated with the increasing risk of non-small cell lung cancer by using case-control analysis in 1341 non-small cell lung cancer (NSCLC) cases and 1982 controls. 0.4 Genetic variants in regulatory regions of microRNAs are associated with lung cancer risk. NCRV0000000697 27825117 miR-149 rs2292832 C Dominant 658 female participants with non-small cell lung cancer EFO_0003060 N/A Better prognosis Non-small cell lung cancer rs2292832-C of miR-149 and its dysfunction is significantly associated with the better prognosis of non-small cell lung cancer by using case-control analysis in 658 female participants with non-small cell lung cancer. By using the disease cell lines or tissues, the mutation of miR-149 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Genetic variants in microRNAs predict non-small cell lung cancer prognosis in Chinese female population in a prospective cohort study. NCRV0000000813 28253859 MALAT1 rs3200401 T Dominant 140 early-staged (stage i and ii) and 398 advanced staged (stage iii and iv) patients EFO_0003060 N/A Better prognosis Non-small cell lung carcinoma rs3200401-T of MALAT1 and its dysfunction is significantly associated with the better prognosis of non-small cell lung carcinoma by using case-control analysis in 140 early-staged (stage I and II) and 398 advanced staged (stage III and IV) patients. 0.4 A genetic variant in long non-coding RNA MALAT1 associated with survival outcome among patients with advanced lung adenocarcinoma: a survival cohort analysis. NCRV0000002337 29524576 CDH2 intron 2 rs539075 G N/a 292 nonsyndromic cleft lip with or without cleft palate (nscl ¡À p) cases and 287 controls HP_0000175 N/A Increasing risk Non-syndromic cleft lip and palate rs539075-G of CDH2 intron 2 and its dysfunction is significantly associated with the increasing risk of non-syndromic cleft lip and palate by using case-control analysis in 292 nonsyndromic cleft lip with or without cleft palate (NSCL ¡À P) cases and 287 controls . By using the disease cell lines or tissues, the mutation of CDH2 intron 2 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 A novel non-coding RNA within an intron of CDH2 and association of its SNP with non-syndromic cleft lip and palate. NCRV0000003881 20358594 miRNA-140 rs7205289 A N/a 557 patients with nonsyndromic oral clefts and 306 unaffected controls HP_0000175 N/A Increasing risk Nonsyndromic cleft palate rs7205289-A of miRNA-140 and its dysfunction is significantly associated with the increasing risk of nonsyndromic cleft palate by using case-control analysis in 557 patients with nonsyndromic oral clefts and 306 unaffected controls. By using the disease cell lines or tissues, the mutation of miRNA-140 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Single nucleotide polymorphism associated with nonsyndromic cleft palate influences the processing of miR-140. NCRV0000003878 22038834 miRNA-96 rs546098287 G Dominant 882 nshl patients and 836 normal-hearing italian controls Orphanet_87884 N/A Increasing risk Non-syndromic inherited hearing loss rs546098287-G of miRNA-96 and its dysfunction is significantly associated with the increasing risk of non-syndromic inherited hearing loss by using case-control analysis in 882 NSHL patients and 836 normal-hearing Italian controls . By using the disease cell lines or tissues, the interference and mutation of miRNA-96 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing. NCRV0000000415 25557604 miR-1908 rs174561 T N/a 17 cardiometabolic traits/diseases EFO_0001073 N/A Increasing risk Obesity rs174561-T of miR-1908 and its dysfunction is significantly associated with the increasing risk of obesity by using analysis of sequence variation in 17 cardiometabolic traits/diseases. 0.4 The association of common polymorphisms in miR-196a2 with waist to hip ratio and miR-1908 with serum lipid and glucose. NCRV0000002484 27919232 miRNA-27a rs895819 C N/a Normotensive (n=95; 45 hiv+; 80 analysed for rs895819t?>c, age range: 16-46 years) and pe patients (n=98; 45 hiv+; 56 analysed for rs895819t>c), age range: 16-42 years). EFO_0001073 N/A Increasing risk Obesity rs895819-C of miRNA-27a and its dysfunction is significantly associated with the increasing risk of obesity by using case-control analysis in normotensive (n=95; 45 HIV+; 80 analysed for rs895819T?>C, age range: 16-46 years) and PE patients (n=98; 45 HIV+; 56 analysed for rs895819T>C), age range: 16-42 years) 0.4 microRNA-27a rs895819 is associated with obesity in HIV infected preeclamptic Black South African women on HAART. NCRV0000000509 19851984 mir26a-1 rs7372209 T N/a 136 opl patients and 136 matched controls EFO_0006566 N/A Increasing risk Oral premalignant lesions rs7372209-T of mir26a-1 and its dysfunction is significantly associated with the increasing risk of oral premalignant lesions by using case-control analysis in 136 OPL patients and 136 matched controls. 0.4 Genetic variation in MicroRNA genes and risk of oral premalignant lesions. NCRV0000001934 19851984 miR-196a-2 rs11614913 T N/a 137 opl patients and 136 matched controls EFO_0006566 N/A No significance for risk Oral premalignant lesions rs11614913-T of miR-196a-2 and its dysfunction is not significantly associated with oral premalignant lesions by using case-control analysis in 137 OPL patients and 136 matched controls. 0.4 Genetic variation in MicroRNA genes and risk of oral premalignant lesions. NCRV0000001594 19851984 miR-423 rs6505162 C N/a 138 opl patients and 136 matched controls EFO_0006566 N/A No significance for risk Oral premalignant lesions rs6505162-C of miR-423 and its dysfunction is not significantly associated with oral premalignant lesions by using case-control analysis in 138 OPL patients and 136 matched controls. 0.4 Genetic variation in MicroRNA genes and risk of oral premalignant lesions. NCRV0000002844 19851984 miR-492 rs2289030 G N/a 139 opl patients and 136 matched controls EFO_0006566 N/A No significance for risk Oral premalignant lesions rs2289030-G of miR-492 and its dysfunction is not significantly associated with oral premalignant lesions by using case-control analysis in 139 OPL patients and 136 matched controls. 0.4 Genetic variation in MicroRNA genes and risk of oral premalignant lesions. NCRV0000002677 19851984 miR-604 rs2368392 T N/a 140 opl patients and 136 matched controls EFO_0006566 N/A No significance for risk Oral premalignant lesions rs2368392-T of miR-604 and its dysfunction is not significantly associated with oral premalignant lesions by using case-control analysis in 140 OPL patients and 136 matched controls. 0.4 Genetic variation in MicroRNA genes and risk of oral premalignant lesions. NCRV0000001269 19851984 miR-608 rs4919510 G N/a 141 opl patients and 136 matched controls EFO_0006566 N/A No significance for risk Oral premalignant lesions rs4919510-G of miR-608 and its dysfunction is not significantly associated with oral premalignant lesions by using case-control analysis in 141 OPL patients and 136 matched controls. 0.4 Genetic variation in MicroRNA genes and risk of oral premalignant lesions. NCRV0000001305 19851984 let7f-2 rs17276588 A N/a 142 opl patients and 136 matched controls EFO_0006566 N/A No significance for risk Oral premalignant lesions rs17276588-A of let7f-2 and its dysfunction is not significantly associated with oral premalignant lesions by using case-control analysis in 142 OPL patients and 136 matched controls. 0.4 Genetic variation in MicroRNA genes and risk of oral premalignant lesions. NCRV0000001039 19851984 miR-30a rs1358379 G N/a 143 opl patients and 136 matched controls EFO_0006566 N/A No significance for risk Oral premalignant lesions rs1358379-G of miR-30a and its dysfunction is not significantly associated with oral premalignant lesions by using case-control analysis in 143 OPL patients and 136 matched controls. 0.4 Genetic variation in MicroRNA genes and risk of oral premalignant lesions. NCRV0000002820 19851984 miR-30c-1 rs16827546 T N/a 144 opl patients and 136 matched controls EFO_0006566 N/A No significance for risk Oral premalignant lesions rs16827546-T of miR-30c-1 and its dysfunction is not significantly associated with oral premalignant lesions by using case-control analysis in 144 OPL patients and 136 matched controls. 0.4 Genetic variation in MicroRNA genes and risk of oral premalignant lesions. NCRV0000003824 19851984 miR-100 rs1834306 T N/a 145 opl patients and 136 matched controls EFO_0006566 N/A No significance for risk Oral premalignant lesions rs1834306-T of miR-100 and its dysfunction is not significantly associated with oral premalignant lesions by using case-control analysis in 145 OPL patients and 136 matched controls. 0.4 Genetic variation in MicroRNA genes and risk of oral premalignant lesions. NCRV0000000692 24612133 miR-146 rs2910164 C N/a 346 oral squamous cell carcinomas collected in italy EFO_0000199 N/A No significance for risk Oral squamous cell carcinoma rs2910164-C of miR-146 and its dysfunction is not significantly associated with oral squamous cell carcinoma by using case-control analysis in 346 oral squamous cell carcinomas collected in Italy. 0.4 Role of the MIR146A polymorphism in the origin and progression of oral squamous cell carcinoma. NCRV0000002724 26625766 miR-196a rs11614913 C Recessive 100 oral squamous cell carcinoma patients and 102 healthy controls in south indian population EFO_0000199 N/A Increasing risk Oral squamous cell carcinoma rs11614913-C of miR-196a and its dysfunction is significantly associated with the increasing risk of oral squamous cell carcinoma by using case-control analysis in 100 oral squamous cell carcinoma patients and 102 healthy controls in South Indian Population. 0.4 Genetic Variation in MicroRNAs and Risk of Oral Squamous Cell Carcinoma in South Indian Population. NCRV0000002515 26625766 miR-149 rs2292832 T Dominant 100 oral squamous cell carcinoma patients and 102 healthy controls in south indian population EFO_0000199 N/A Increasing risk Oral squamous cell carcinoma rs2292832-T of miR-149 and its dysfunction is significantly associated with the increasing risk of oral squamous cell carcinoma by using case-control analysis in 100 oral squamous cell carcinoma patients and 102 healthy controls in South Indian Population. 0.4 Genetic Variation in MicroRNAs and Risk of Oral Squamous Cell Carcinoma in South Indian Population. NCRV0000002713 29186852 miR-196a-2 rs11614913 T Dominant Fn-bmd (n = 32,735), ls-bmd (n = 28,498) and fa-bmd (n = 8143) EFO_0003882 N/A Increasing risk Osteoporosis rs11614913-T of miR-196a-2 and its dysfunction is significantly associated with the increasing risk of osteoporosis by using genome-wide association analysis in FN-BMD (n = 32,735), LS-BMD (n = 28,498) and FA-BMD (n = 8143). 0.4 Genetic Polymorphism of miR-196a-2 is Associated with Bone Mineral Density (BMD).LID - E2529 [pii]LID - 10.3390/ijms18122529 [doi]AB - MicroRNAs (miRNAs) are small non-coding RNA molecules that post-transcriptionally regulate the translation of NCRV0000002733 26967389 HOTAIR rs7958904 C N/a 900 os cases and 900 controls in chinese population EFO_0000637 N/A Decreasing risk Osteosarcoma rs7958904-C of HOTAIR and its dysfunction is significantly associated with the decreasing risk of osteosarcoma by using case-control analysis in 900 OS cases and 900 controls in chinese population. 0.4 Genetic variants of lncRNA HOTAIR contribute to the risk of osteosarcoma. NCRV0000001997 25242229 miR-34a rs72631823 A Dominant 65 pairs of surgically resected os (prior to neoadjuvant chemotherapy administration) and adjacent normal bone tissue EFO_0000637 N/A Increasing risk Osteosarcoma rs72631823-A of miR-34a and its dysfunction is significantly associated with the increasing risk of Osteosarcoma by using case-control analysis in 65 pairs of surgically resected OS (prior to neoadjuvant chemotherapy administration) and adjacent normal bone tissue . By using the disease cell lines or tissues, the interference and mutation of miR-34a has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 A polymorphism site in the premiR34a coding region reduces miR34a expression and promotes osteosarcoma cell proliferation and migration. NCRV0000003449 27213290 LINC00673 rs11655237 A Dominant Replication i (1,222 cases and 1,282 controls) and replication ii (1,381 cases and 1,595 controls), and replication iii (266 cases with cancer and 330 controls) EFO_0002618 N/A Increasing risk Pancreatic cancer rs11655237-A of LINC00673 and its dysfunction is significantly associated with the increasing risk of Pancreatic cancer by using genome-wide association analysis in replication I (1,222 cases and 1,282 controls) and replication II (1,381 cases and 1,595 controls), and replication III (266 cases with cancer and 330 controls). By using the disease cell lines or tissues, the interference and mutation of LINC00673 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. Moreover, the ncRNA variation-disease association was validated by complex experiments. 1.4 Pancreatic cancer risk variant in LINC00673 creates a miR-1231 binding site and interferes with PTPN11 degradation. NCRV0000001535 28358873 NEAT1 chr11:65192209 - Dominant 278 prcc patients EFO_0000640 N/A Poor prognosis Papillary renal-cell carcinoma chr11:65192209 of NEAT1 and its dysfunction is significantly associated with the poor prognosis of papillary renal-cell carcinoma by using analysis of sequence variation in 278 pRCC patients . 0.4 Whole-genome analysis of papillary kidney cancer finds significant noncoding alterations. NCRV0000001629 28358873 NEAT1 chr11:65195872 - Dominant 278 prcc patients EFO_0000640 N/A Poor prognosis Papillary renal-cell carcinoma chr11:65195872 of NEAT1 and its dysfunction is significantly associated with the poor prognosis of papillary renal-cell carcinoma by using analysis of sequence variation in 278 pRCC patients . 0.4 Whole-genome analysis of papillary kidney cancer finds significant noncoding alterations. NCRV0000000896 28358873 NEAT1 chr11:65199075 - Dominant 278 prcc patients EFO_0000640 N/A Poor prognosis Papillary renal-cell carcinoma chr11:65199075 of NEAT1 and its dysfunction is significantly associated with the poor prognosis of papillary renal-cell carcinoma by using analysis of sequence variation in 278 pRCC patients . 0.4 Whole-genome analysis of papillary kidney cancer finds significant noncoding alterations. NCRV0000003525 28358873 NEAT1 chr11:65201466 - Dominant 278 prcc patients EFO_0000640 N/A Poor prognosis Papillary renal-cell carcinoma chr11:65201466 of NEAT1 and its dysfunction is significantly associated with the poor prognosis of papillary renal-cell carcinoma by using analysis of sequence variation in 278 pRCC patients . 0.4 Whole-genome analysis of papillary kidney cancer finds significant noncoding alterations. NCRV0000002653 28358873 NEAT1 rs1211896466 C Dominant 278 prcc patients EFO_0000640 N/A Poor prognosis Papillary renal-cell carcinoma rs1211896466-C of NEAT1 and its dysfunction is significantly associated with the poor prognosis of papillary renal-cell carcinoma by using analysis of sequence variation in 278 pRCC patients . 0.4 Whole-genome analysis of papillary kidney cancer finds significant noncoding alterations. NCRV0000000423 28358873 NEAT1 rs573201231 G or T Dominant 278 prcc patients EFO_0000640 N/A Poor prognosis Papillary renal-cell carcinoma rs573201231-G or T of NEAT1 and its dysfunction is significantly associated with the poor prognosis of papillary renal-cell carcinoma by using analysis of sequence variation in 278 pRCC patients . 0.4 Whole-genome analysis of papillary kidney cancer finds significant noncoding alterations. NCRV0000002120 28358873 NEAT1 rs961706739 G Dominant 278 prcc patients EFO_0000640 N/A Poor prognosis Papillary renal-cell carcinoma rs961706739-G of NEAT1 and its dysfunction is significantly associated with the poor prognosis of papillary renal-cell carcinoma by using analysis of sequence variation in 278 pRCC patients . 0.4 Whole-genome analysis of papillary kidney cancer finds significant noncoding alterations. NCRV0000003452 23451063 miR-146a rs2910164 GG Recessive 753 ptcs, 484 bns and 760 controls EFO_0000641 N/A Poor prognosis Papillary thyroid cancer rs2910164-GG of miR-146a and its dysfunction is significantly associated with the increasing risk of papillary thyroid cancer by using case-control analysis in 753 PTCs, 484 BNs and 760 controls. 0.4 Association between the rs2910164 polymorphism in pre-Mir-146a sequence and thyroid carcinogenesis. NCRV0000000665 19411858 miRNA-146 rs2910146 C N/a 608 ptc patients and 901 controls EFO_0000641 N/A Increasing risk Papillary thyroid carcinoma rs2910146-C of miRNA-146 and its dysfunction is significantly associated with the increasing risk of papillary thyroid carcinoma by using case-control analysis in 608 PTC patients and 901 controls. By using the disease cell lines or tissues, the mutation of miRNA-146 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Genomic sequence matters: a SNP in microRNA-146a can turn anti-apoptotic. NCRV0000003452 21978540 miR-146a rs2910164 G N/a 808 cases and 1,101 controls EFO_0000641 N/A Increasing risk Papillary thyroid carcinoma rs2910164-G of miR-146a and its dysfunction is significantly associated with the increasing risk of papillary thyroid carcinoma by using meta-analysis in 808 cases and 1,101 controls. 0.4 The association between common genetic variant of microRNA-146a and cancer susceptibility. NCRV0000001343 22586128 PTCSC3 rs944289 T N/a 46 paired samples of unaffected tissue and ptc tumor EFO_0000641 N/A Increasing risk Papillary thyroid carcinoma rs944289 -T of PTCSC3 and its dysfunction is significantly associated with the increasing risk of papillary thyroid carcinoma by using case-control analysis in 46 paired samples of unaffected tissue and PTC tumor. By using the disease cell lines or tissues, the interference and mutation of PTCSC3 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. Moreover, the ncRNA variation-disease association was validated by complex experiments. 1.4 The polymorphism rs944289 predisposes to papillary thyroid carcinoma through a large intergenic noncoding RNA gene of tumor suppressor type. NCRV0000001875 26941397 GAS8-AS1 rs55742939 C Dominant 402 tumor-normal pairs (discovery: 91 pairs via exome sequencing; validation: 311 pairs via sanger sequencing) EFO_0000641 N/A Increasing risk Papillary thyroid carcinoma rs55742939-C of GAS8-AS1 and its dysfunction is significantly associated with the increasing risk of Papillary thyroid carcinoma by using case-control analysis in 402 tumor-normal pairs (Discovery: 91 pairs via exome sequencing; validation: 311 pairs via Sanger sequencing). By using the disease cell lines or tissues, the interference and mutation of GAS8-AS1 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Whole exome sequencing identifies lncRNA GAS8-AS1 and LPAR4 as novel papillary thyroid carcinoma driver alternations. NCRV0000003967 26941397 GAS8-AS1 rs61118444 G Dominant 402 tumor-normal pairs (discovery: 91 pairs via exome sequencing; validation: 311 pairs via sanger sequencing) EFO_0000641 N/A Increasing risk Papillary thyroid carcinoma rs61118444-G of GAS8-AS1 and its dysfunction is significantly associated with the increasing risk of Papillary thyroid carcinoma by using case-control analysis in 402 tumor-normal pairs (Discovery: 91 pairs via exome sequencing; validation: 311 pairs via Sanger sequencing). By using the disease cell lines or tissues, the interference and mutation of GAS8-AS1 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Whole exome sequencing identifies lncRNA GAS8-AS1 and LPAR4 as novel papillary thyroid carcinoma driver alternations. NCRV0000002669 28049826 PTCSC2 rs965513 A Dominant 59 pairs of tumor/nontumor ptc samples EFO_0000641 N/A Increasing risk Papillary thyroid carcinoma rs965513-A of PTCSC2 and its dysfunction is significantly associated with the increasing risk of papillary thyroid carcinoma by using genome-wide association analysis in 59 pairs of tumor/nontumor PTC samples. By using the disease cell lines or tissues, the interference of PTCSC2 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. Moreover, the ncRNA variation-disease association was validated by complex experiments. 1.4 MYH9 binds to lncRNA gene PTCSC2 and regulates FOXE1 in the 9q22 thyroid cancer risk locus. NCRV0000001092 27549736 HOTAIR rs920778 T Dominant 6 pairs of ptc tissues and normal specimens adjacent to the tumors EFO_0000641 N/A Increasing risk Papillary thyroid carcinoma(female) rs920778-T of HOTAIR and its dysfunction is significantly associated with the increasing risk of papillary thyroid carcinoma(female) by using case-control analysis in 6 pairs of PTC tissues and normal specimens adjacent to the tumors. 0.4 Onco-lncRNA HOTAIR and its functional genetic variants in papillary thyroid carcinoma. NCRV0000002320 26670097 miR-548at-5p rs11651671 G Dominant 13,708 pd cases (39% female) and 95,282 controls (46% female) EFO_0002508 N/A Increasing risk Parkinson disease rs11651671-G of miR-548at-5p and its dysfunction is significantly associated with the increasing risk of Parkinson disease by using case-control analysis in 13,708 PD cases (39% female) and 95,282 controls (46% female) . By using the disease cell lines or tissues, the interference and mutation of miR-548at-5p has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Genetic Variants in MicroRNAs and Their Binding Sites Are Associated with the Risk of Parkinson Disease. NCRV0000001783 26670097 miR-4519 rs897984 C Dominant 13,708 pd cases (39% female) and 95,282 controls (46% female) EFO_0002508 N/A Decreasing risk Parkinson disease rs897984-C of miR-4519 and its dysfunction is significantly associated with the decreasing risk of Parkinson disease by using case-control analysis in 13,708 PD cases (39% female) and 95,282 controls (46% female) . By using the disease cell lines or tissues, the interference and mutation of miR-4519 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Genetic Variants in MicroRNAs and Their Binding Sites Are Associated with the Risk of Parkinson Disease. NCRV0000002917 22426473 miRNA-196a2 rs11614913 C N/a 549 pd patients and 736 control subjects EFO_0002508 N/A No significance for risk Parkinson's disease rs11614913-C of miRNA-196a2 and its dysfunction is not significantly associated with Parkinson's disease by using case-control analysis in 549 PD patients and 736 control subjects. 0.4 Lack of association of polymorphism in miRNA-196a2 with Parkinson's disease risk in a Chinese population. NCRV0000001368 24618566 miR-449b rs10061133 G Dominant 213 b-cell all patients and 387 controls EFO_1001947 N/A Decreasing risk Pediatric acute lymphoblastic leukemia rs10061133-G of miR-449b and its dysfunction is significantly associated with the decreasing risk of pediatric acute lymphoblastic leukemia by using case-control analysis in 213 B-cell ALL patients and 387 controls. 0.4 Noncoding RNA-related polymorphisms in pediatric acute lymphoblastic leukemia susceptibility. NCRV0000001294 24618566 miR-612 rs12803915 A Dominant 213 b-cell all patients and 387 controls EFO_1001947 N/A Decreasing risk Pediatric acute lymphoblastic leukemia rs12803915-A of miR-612 and its dysfunction is significantly associated with the decreasing risk of pediatric acute lymphoblastic leukemia by using case-control analysis in 213 B-cell ALL patients and 387 controls. 0.4 Noncoding RNA-related polymorphisms in pediatric acute lymphoblastic leukemia susceptibility. NCRV0000001524 24618566 miR-499 rs3746444 G Dominant 213 b-cell all patients and 387 controls EFO_1001947 N/A Decreasing risk Pediatric acute lymphoblastic leukemia rs3746444-G of miR-499 and its dysfunction is significantly associated with the decreasing risk of pediatric acute lymphoblastic leukemia by using case-control analysis in 213 B-cell ALL patients and 387 controls. 0.4 Noncoding RNA-related polymorphisms in pediatric acute lymphoblastic leukemia susceptibility. NCRV0000001093 24658012 miR-146a rs2910164 G Dominant 520 pediatric uveitis patients and 1204 healthy controls EFO_1001231 N/A Increasing risk Pediatric uveitis rs2910164-G of miR-146a and its dysfunction is significantly associated with the increasing risk of pediatric uveitis by using case-control analysis in 520 pediatric uveitis patients and 1204 healthy controls. 0.4 MicroRNA-146a and Ets-1 gene polymorphisms are associated with pediatric uveitis. NCRV0000002919 24658012 miR-146a rs57095329 G N/a 520 pediatric uveitis patients and 1204 healthy controls EFO_1001231 N/A No significance for risk Pediatric uveitis rs57095329-G of miR-146a and its dysfunction is not significantly associated with pediatric uveitis by using case-control analysis in 520 pediatric uveitis patients and 1204 healthy controls. 0.4 MicroRNA-146a and Ets-1 gene polymorphisms are associated with pediatric uveitis. NCRV0000000048 24658012 miR-146a rs6864584 T N/a 520 pediatric uveitis patients and 1204 healthy controls EFO_1001231 N/A No significance for risk Pediatric uveitis rs6864584-T of miR-146a and its dysfunction is not significantly associated with pediatric uveitis by using case-control analysis in 520 pediatric uveitis patients and 1204 healthy controls. 0.4 MicroRNA-146a and Ets-1 gene polymorphisms are associated with pediatric uveitis. NCRV0000000712 24658012 miR-146a rs10893872 C N/a 520 pediatric uveitis patients and 1204 healthy controls EFO_1001231 N/A Increasing risk Pediatric uveitis rs10893872-C of miR-146a and its dysfunction is significantly associated with the increasing risk of pediatric uveitis by using case-control analysis in 520 pediatric uveitis patients and 1204 healthy controls. 0.4 MicroRNA-146a and Ets-1 gene polymorphisms are associated with pediatric uveitis. NCRV0000001019 29037553 microRNA-222 rs2858060 CG N/a 205 patients with polycystic ovary syndrome and 205 normal women as the control group. EFO_0000660 N/A No significance for risk Polycystic ovary syndrome rs2858060-CG of microRNA-222 and its dysfunction is not significantly associated with polycystic ovary syndrome by using case-control analysis in 205 patients with polycystic ovary syndrome and 205 normal women as the control group 0.4 Association of miR-146a rs2910164 and miR-222 rs2858060 polymorphisms with the risk of polycystic ovary syndrome in Iranian women: A case-control study. NCRV0000002912 29037553 microRNA-146a rs2910164 C Dominant 205 patients with polycystic ovary syndrome and 205 normal women as the control group. EFO_0000660 N/A Increasing risk Polycystic ovary syndrome rs2910164-C of microRNA-146a and its dysfunction is significantly associated with the increasing risk of polycystic ovary syndrome by using case-control analysis in 205 patients with polycystic ovary syndrome and 205 normal women as the control group 0.4 Association of miR-146a rs2910164 and miR-222 rs2858060 polymorphisms with the risk of polycystic ovary syndrome in Iranian women: A case-control study. NCRV0000000287 20588305 SNORD116 SNORD116 Deletion - Dominant An 11-year-old child expressing the major components of the pws phenotype Orphanet_739 N/A Increasing risk Prader-willi syndrome Deletion of SNORD116 and its dysfunction is significantly associated with the increasing risk of Prader-Willi syndrome by using analysis of sequence variation in an 11-year-old child expressing the major components of the PWS phenotype. 0.4 Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome. NCRV0000001110 27919232 miRNA-27a rs895819 C N/a Normotensive (n=95; 45 hiv+; 80 analysed for rs895819t?>c, age range: 16-46 years) and pe patients (n=98; 45 hiv+; 56 analysed for rs895819t>c), age range: 16-42 years). EFO_0000668 N/A No significance for risk Preeclampsia rs895819-C of miRNA-27a and its dysfunction is not significantly associated with Preeclampsia by using case-control analysis in normotensive (n=95; 45 HIV+; 80 analysed for rs895819T?>C, age range: 16-46 years) and PE patients (n=98; 45 HIV+; 56 analysed for rs895819T>C), age range: 16-42 years) 0.4 microRNA-27a rs895819 is associated with obesity in HIV infected preeclamptic Black South African women on HAART. NCRV0000000717 23111177 CDKN2B-AS1 rs1012068 ? Dominant 976 poag cases from the glaucoma genes and environment (glaugen) study and 1971 cases from the national eye institute glaucoma human genetics collaboration (neighbor) consortium EFO_0004190 N/A Decreasing risk Primary open-angle glaucoma rs1012068-? of CDKN2B-AS1 and its dysfunction is significantly associated with the decreasing risk of primary open-angle glaucoma by using case-control analysis in 976 POAG cases from the Glaucoma Genes and Environment (GLAUGEN) study and 1971 cases from the National Eye Institute Glaucoma Human Genetics Collaboration (NEIGHBOR) consortium. 0.4 CDKN2B-AS1 genotype-glaucoma feature correlations in primary open-angle glaucoma patients from the United States. NCRV0000002956 23111177 CDKN2B-AS1 rs1063192 ? Dominant 976 poag cases from the glaucoma genes and environment (glaugen) study and 1971 cases from the national eye institute glaucoma human genetics collaboration (neighbor) consortium EFO_0004190 N/A Decreasing risk Primary open-angle glaucoma rs1063192-? of CDKN2B-AS1 and its dysfunction is significantly associated with the decreasing risk of primary open-angle glaucoma by using case-control analysis in 976 POAG cases from the Glaucoma Genes and Environment (GLAUGEN) study and 1971 cases from the National Eye Institute Glaucoma Human Genetics Collaboration (NEIGHBOR) consortium. 0.4 CDKN2B-AS1 genotype-glaucoma feature correlations in primary open-angle glaucoma patients from the United States. NCRV0000002783 23111177 CDKN2B-AS1 rs1412829 ? Dominant 976 poag cases from the glaucoma genes and environment (glaugen) study and 1971 cases from the national eye institute glaucoma human genetics collaboration (neighbor) consortium EFO_0004190 N/A Decreasing risk Primary open-angle glaucoma rs1412829-? of CDKN2B-AS1 and its dysfunction is significantly associated with the decreasing risk of primary open-angle glaucoma by using case-control analysis in 976 POAG cases from the Glaucoma Genes and Environment (GLAUGEN) study and 1971 cases from the National Eye Institute Glaucoma Human Genetics Collaboration (NEIGHBOR) consortium. 0.4 CDKN2B-AS1 genotype-glaucoma feature correlations in primary open-angle glaucoma patients from the United States. NCRV0000002531 23111177 CDKN2B-AS1 rs1412832 ? Dominant 976 poag cases from the glaucoma genes and environment (glaugen) study and 1971 cases from the national eye institute glaucoma human genetics collaboration (neighbor) consortium EFO_0004190 N/A Decreasing risk Primary open-angle glaucoma rs1412832-? of CDKN2B-AS1 and its dysfunction is significantly associated with the decreasing risk of primary open-angle glaucoma by using case-control analysis in 976 POAG cases from the Glaucoma Genes and Environment (GLAUGEN) study and 1971 cases from the National Eye Institute Glaucoma Human Genetics Collaboration (NEIGHBOR) consortium. 0.4 CDKN2B-AS1 genotype-glaucoma feature correlations in primary open-angle glaucoma patients from the United States. NCRV0000002663 23111177 CDKN2B-AS1 rs2151280 ? Dominant 976 poag cases from the glaucoma genes and environment (glaugen) study and 1971 cases from the national eye institute glaucoma human genetics collaboration (neighbor) consortium EFO_0004190 N/A Decreasing risk Primary open-angle glaucoma rs2151280-? of CDKN2B-AS1 and its dysfunction is significantly associated with the decreasing risk of primary open-angle glaucoma by using case-control analysis in 976 POAG cases from the Glaucoma Genes and Environment (GLAUGEN) study and 1971 cases from the National Eye Institute Glaucoma Human Genetics Collaboration (NEIGHBOR) consortium. 0.4 CDKN2B-AS1 genotype-glaucoma feature correlations in primary open-angle glaucoma patients from the United States. NCRV0000002981 23111177 CDKN2B-AS1 rs2157719 G Dominant 976 poag cases from the glaucoma genes and environment (glaugen) study and 1971 cases from the national eye institute glaucoma human genetics collaboration (neighbor) consortium EFO_0004190 N/A Decreasing risk Primary open-angle glaucoma rs2157719-G of CDKN2B-AS1 and its dysfunction is significantly associated with the decreasing risk of primary open-angle glaucoma by using case-control analysis in 976 POAG cases from the Glaucoma Genes and Environment (GLAUGEN) study and 1971 cases from the National Eye Institute Glaucoma Human Genetics Collaboration (NEIGHBOR) consortium. 0.4 CDKN2B-AS1 genotype-glaucoma feature correlations in primary open-angle glaucoma patients from the United States. NCRV0000001380 23111177 CDKN2B-AS1 rs3217992 A Dominant 976 poag cases from the glaucoma genes and environment (glaugen) study and 1971 cases from the national eye institute glaucoma human genetics collaboration (neighbor) consortium EFO_0004190 N/A Increasing risk Primary open-angle glaucoma rs3217992-A of CDKN2B-AS1 and its dysfunction is significantly associated with the increasing risk of primary open-angle glaucoma by using case-control analysis in 976 POAG cases from the Glaucoma Genes and Environment (GLAUGEN) study and 1971 cases from the National Eye Institute Glaucoma Human Genetics Collaboration (NEIGHBOR) consortium. 0.4 CDKN2B-AS1 genotype-glaucoma feature correlations in primary open-angle glaucoma patients from the United States. NCRV0000001647 23111177 CDKN2B-AS1 rs4977756 ? Dominant 976 poag cases from the glaucoma genes and environment (glaugen) study and 1971 cases from the national eye institute glaucoma human genetics collaboration (neighbor) consortium EFO_0004190 N/A Decreasing risk Primary open-angle glaucoma rs4977756-? of CDKN2B-AS1 and its dysfunction is significantly associated with the decreasing risk of primary open-angle glaucoma by using case-control analysis in 976 POAG cases from the Glaucoma Genes and Environment (GLAUGEN) study and 1971 cases from the National Eye Institute Glaucoma Human Genetics Collaboration (NEIGHBOR) consortium. 0.4 CDKN2B-AS1 genotype-glaucoma feature correlations in primary open-angle glaucoma patients from the United States. NCRV0000000482 23111177 CDKN2B-AS1 rs573687 ? Dominant 976 poag cases from the glaucoma genes and environment (glaugen) study and 1971 cases from the national eye institute glaucoma human genetics collaboration (neighbor) consortium EFO_0004190 N/A Decreasing risk Primary open-angle glaucoma rs573687-? of CDKN2B-AS1 and its dysfunction is significantly associated with the decreasing risk of primary open-angle glaucoma by using case-control analysis in 976 POAG cases from the Glaucoma Genes and Environment (GLAUGEN) study and 1971 cases from the National Eye Institute Glaucoma Human Genetics Collaboration (NEIGHBOR) consortium. 0.4 CDKN2B-AS1 genotype-glaucoma feature correlations in primary open-angle glaucoma patients from the United States. NCRV0000000533 23111177 CDKN2B-AS1 rs7049105 ? Dominant 976 poag cases from the glaucoma genes and environment (glaugen) study and 1971 cases from the national eye institute glaucoma human genetics collaboration (neighbor) consortium EFO_0004190 N/A Decreasing risk Primary open-angle glaucoma rs7049105-? of CDKN2B-AS1 and its dysfunction is significantly associated with the decreasing risk of primary open-angle glaucoma by using case-control analysis in 976 POAG cases from the Glaucoma Genes and Environment (GLAUGEN) study and 1971 cases from the National Eye Institute Glaucoma Human Genetics Collaboration (NEIGHBOR) consortium. 0.4 CDKN2B-AS1 genotype-glaucoma feature correlations in primary open-angle glaucoma patients from the United States. NCRV0000001825 29049738 miR-323b-5p rs1063192 G N/a iop (n = 37,930 individuals), vcdr (n = 23,899 individuals), cup area (n = 22,489 individuals), and disc area (n = 22,504 individuals). EFO_0004190 N/A Increasing risk Primary open-angle glaucoma rs1063192-G of miR-323b-5p and its dysfunction is significantly associated with the increasing risk of primary open-angle glaucoma by using case-control analysis in IOP (n = 37,930 individuals), VCDR (n = 23,899 individuals), cup area (n = 22,489 individuals), and disc area (n = 22,504 individuals) By using the disease cell lines or tissues, the mutation of miR-323b-5p has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 A Genome-Wide Scan for MicroRNA-Related Genetic Variants Associated With Primary Open-Angle Glaucoma. NCRV0000002538 29049738 miR-612 rs12803915 G N/a Iop (n = 37,930 individuals), vcdr (n = 23,899 individuals), cup area (n = 22,489 individuals), and disc area (n = 22,504 individuals) EFO_0004190 N/A Increasing risk Primary open-angle glaucoma rs12803915-G of miR-612 and its dysfunction is significantly associated with the increasing risk of primary open-angle glaucoma by using case-control analysis in IOP (n = 37,930 individuals), VCDR (n = 23,899 individuals), cup area (n = 22,489 individuals), and disc area (n = 22,504 individuals). By using the disease cell lines or tissues, the mutation of miR-612 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 A Genome-Wide Scan for MicroRNA-Related Genetic Variants Associated With Primary Open-Angle Glaucoma. NCRV0000002336 29049738 miR-4707 rs2273626 C N/a Iop (n = 37,930 individuals), vcdr (n = 23,899 individuals), cup area (n = 22,489 individuals), and disc area (n = 22,504 individuals) EFO_0004190 N/A Increasing risk Primary open-angle glaucoma rs2273626-C of miR-4707 and its dysfunction is significantly associated with the increasing risk of primary open-angle glaucoma by using case-control analysis in IOP (n = 37,930 individuals), VCDR (n = 23,899 individuals), cup area (n = 22,489 individuals), and disc area (n = 22,504 individuals). By using the disease cell lines or tissues, the mutation of miR-4707 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 A Genome-Wide Scan for MicroRNA-Related Genetic Variants Associated With Primary Open-Angle Glaucoma. NCRV0000000784 29049738 miR-138-3p rs3217992 T N/a iop (n = 37,930 individuals), vcdr (n = 23,899 individuals), cup area (n = 22,489 individuals), and disc area (n = 22,504 individuals). EFO_0004190 N/A Increasing risk Primary open-angle glaucoma rs3217992-T of miR-138-3p and its dysfunction is significantly associated with the increasing risk of primary open-angle glaucoma by using case-control analysis in IOP (n = 37,930 individuals), VCDR (n = 23,899 individuals), cup area (n = 22,489 individuals), and disc area (n = 22,504 individuals) By using the disease cell lines or tissues, the mutation of miR-138-3p has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 A Genome-Wide Scan for MicroRNA-Related Genetic Variants Associated With Primary Open-Angle Glaucoma. NCRV0000003843 28604625 miR-938 rs12416605 A N/a 143 patients with poi (mean age ¡À sd, 31.34 ¡À 4.97 years) and 227 control participants without poi (mean age ¡À sd, 33.34 ¡À 5.70 years) EFO_0004266 N/A Increasing risk Primary ovarian insufficiency rs12416605-A of miR-938 and its dysfunction is significantly associated with the increasing risk of Primary Ovarian Insufficiency by using case-control analysis in 143 patients with POI (mean age ¡À SD, 31.34 ¡À 4.97 years) and 227 control participants without POI (mean age ¡À SD, 33.34 ¡À 5.70 years). By using the disease cell lines or tissues, the mutation of miR-938 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Association of miR-938G>A Polymorphisms with Primary Ovarian Insufficiency (POI)-Related Gene Expression.LID - E1255 [pii]LID - 10.3390/ijms18061255 [doi]AB - MicroRNAs (miRNAs) post-transcriptionally regulate gene expression in animals and NCRV0000002442 18356149 miR-155 rs1386351276 C Dominant >100 human tumor tissues and 20 cancer cell lines EFO_0001663 N/A Increasing risk Prostate cancer rs1386351276-C of miR-155 and its dysfunction is significantly associated with the increasing risk of prostate cancer by using case-control analysis in >100 human tumor tissues and 20 cancer cell lines. 0.4 Genetic variations of microRNAs in human cancer and their effects on the expression of miRNAs. NCRV0000003124 18356149 miR-199a-2 rs1427199400 A Dominant >100 human tumor tissues and 20 cancer cell lines EFO_0001663 N/A Increasing risk Prostate cancer rs1427199400-A of miR-199a-2 and its dysfunction is significantly associated with the increasing risk of prostate cancer by using case-control analysis in >100 human tumor tissues and 20 cancer cell lines. 0.4 Genetic variations of microRNAs in human cancer and their effects on the expression of miRNAs. NCRV0000001788 18356149 let-7e rs149622487 A Dominant >100 human tumor tissues and 20 cancer cell lines EFO_0001663 N/A Increasing risk Prostate cancer rs149622487-A of let-7e and its dysfunction is significantly associated with the increasing risk of prostate cancer by using case-control analysis in >100 human tumor tissues and 20 cancer cell lines. By using the disease cell lines or tissues, the mutation of let-7e has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Genetic variations of microRNAs in human cancer and their effects on the expression of miRNAs. NCRV0000002428 18356149 miR-181b-2 rs369088591 A Dominant >100 human tumor tissues and 20 cancer cell lines EFO_0001663 N/A Increasing risk Prostate cancer rs369088591-A of miR-181b-2 and its dysfunction is significantly associated with the increasing risk of prostate cancer by using case-control analysis in >100 human tumor tissues and 20 cancer cell lines. 0.4 Genetic variations of microRNAs in human cancer and their effects on the expression of miRNAs. NCRV0000000698 18356149 let-7e rs369631196 A Dominant >100 human tumor tissues and 20 cancer cell lines EFO_0001663 N/A Increasing risk Prostate cancer rs369631196-A of let-7e and its dysfunction is significantly associated with the increasing risk of prostate cancer by using case-control analysis in >100 human tumor tissues and 20 cancer cell lines. 0.4 Genetic variations of microRNAs in human cancer and their effects on the expression of miRNAs. NCRV0000001240 18356149 miR-208 rs747303454 A Dominant >100 human tumor tissues and 20 cancer cell lines EFO_0001663 N/A Increasing risk Prostate cancer rs747303454-A of miR-208 and its dysfunction is significantly associated with the increasing risk of prostate cancer by using case-control analysis in >100 human tumor tissues and 20 cancer cell lines. 0.4 Genetic variations of microRNAs in human cancer and their effects on the expression of miRNAs. NCRV0000001163 19902466 miR-146a rs2910164 C Recessive 251 cap and 280 control subjects EFO_0001663 N/A Decreasing risk Prostate cancer rs2910164-C of miR-146a and its dysfunction is significantly associated with the decreasing risk of prostate cancer by using case-control analysis in 251 CaP and 280 control subjects. 0.4 A functional polymorphism in Pre-miR-146a gene is associated with prostate cancer risk and mature miR-146a expression in vivo. NCRV0000003983 20842445 hsa-mir196a2 rs11614913 T N/a 159 prostate cancer patients and 230 matched controls EFO_0001663 N/A Increasing risk Prostate cancer rs11614913-T of hsa-mir196a2 and its dysfunction is significantly associated with the increasing risk of prostate cancer by using case-control analysis in 159 prostate cancer patients and 230 matched controls. 0.4 Genetic variation in microRNA genes and prostate cancer risk in North Indian population. NCRV0000001163 20842445 hsa-mir146a rs2910164 G N/a 159 prostate cancer patients and 230 matched controls EFO_0001663 N/A No significance for risk Prostate cancer rs2910164-G of hsa-mir146a and its dysfunction is not significantly associated with prostate cancer by using case-control analysis in 159 prostate cancer patients and 230 matched controls. 0.4 Genetic variation in microRNA genes and prostate cancer risk in North Indian population. NCRV0000002030 20842445 hsa-mir499 rs3746444 C N/a 159 prostate cancer patients and 230 matched controls EFO_0001663 N/A Increasing risk Prostate cancer rs3746444-C of hsa-mir499 and its dysfunction is significantly associated with the increasing risk of prostate cancer by using case-control analysis in 159 prostate cancer patients and 230 matched controls. 0.4 Genetic variation in microRNA genes and prostate cancer risk in North Indian population. NCRV0000001118 21472816 miR-15a-miR-16-1 locus miR-15a-miR-16-1 locus Deletion - Recessive 42 highly informative prostate cancer cell lines and xenografts EFO_0001663 N/A Increasing risk Prostate cancer Deletion of miR-15a-miR-16-1 locus and its dysfunction is significantly associated with the increasing risk of prostate cancer by using analysis of sequence variation in 42 highly informative prostate cancer cell lines and xenografts. By using the disease cell lines or tissues, the interference of miR-15a-miR-16-1 locus has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 The miR-15a-miR-16-1 locus is homozygously deleted in a subset of prostate cancers. NCRV0000001109 21856995 AC112706.1 rs3787016 A Dominant 4196 cases and 5007 controls EFO_0001663 N/A Increasing risk Prostate cancer rs3787016-A of AC112706.1 and its dysfunction is significantly associated with the increasing risk of prostate cancer by using meta-analysis in 4196 cases and 5007 controls. 0.4 Human polymorphisms at long non-coding RNAs (lncRNAs) and association with prostate cancer risk. NCRV0000002206 23459097 PCGEM1 rs16834898 C N/a 656 cases and 702 controls EFO_0001663 N/A Increasing risk Prostate cancer rs16834898-C of PCGEM1 and its dysfunction is significantly associated with the increasing risk of prostate cancer by using case-control analysis in 656 cases and 702 controls. 0.4 Association between lncrna PCGEM1 polymorphisms and prostate cancer risk. NCRV0000003321 23459097 PCGEM1 rs6434568 C N/a 656 cases and 702 controls EFO_0001663 N/A Increasing risk Prostate cancer rs6434568-C of PCGEM1 and its dysfunction is significantly associated with the increasing risk of prostate cancer by using case-control analysis in 656 cases and 702 controls. 0.4 Association between lncrna PCGEM1 polymorphisms and prostate cancer risk. NCRV0000002502 24740842 MIR605 rs2043556 G Dominant 320 asian and 526 caucasian men with pathologically organ-confined prostate cancer who had a median follow-up of 54.7 and 88.8 months after rp, respectively. EFO_0001663 N/A Poor prognosis Prostate cancer rs2043556-G of MIR605 and its dysfunction is significantly associated with the poor prognosis of prostate cancer by using case-control analysis in 320 Asian and 526 Caucasian men with pathologically organ-confined prostate cancer who had a median follow-up of 54.7 and 88.8 months after RP, respectively. . 0.4 Genetic variants in microRNAs and microRNA target sites predict biochemical recurrence after radical prostatectomy in localized prostate cancer. NCRV0000000104 25224557 19p13 rs10773338 A N/a 1015 ethnic han chinese patients with prostate cancer and 1032 cancer-free controls EFO_0001663 N/A No significance for risk Prostate cancer rs10773338-A of 19p13 and its dysfunction is not significantly associated with prostate cancer by using case-control analysis in 1015 ethnic Han Chinese patients with prostate cancer and 1032 cancer-free controls. 0.4 Polymorphisms at long non-coding RNAs and prostate cancer risk in an eastern Chinese population. NCRV0000002601 25224557 19p13 rs3787016 A Dominant 1015 ethnic han chinese patients with prostate cancer and 1032 cancer-free controls EFO_0001663 N/A Increasing risk Prostate cancer rs3787016-A of 19p13 and its dysfunction is significantly associated with the increasing risk of prostate cancer by using case-control analysis in 1015 ethnic Han Chinese patients with prostate cancer and 1032 cancer-free controls. 0.4 Polymorphisms at long non-coding RNAs and prostate cancer risk in an eastern Chinese population. NCRV0000001665 25445501 PCA3 rs921843579 (TAAA)n N/a 120 pca cases and 120 benign prostatic hypertrophy (bph) cases in the chinese population EFO_0001663 N/A Increasing risk Prostate cancer rs921843579-(TAAA)n of PCA3 and its dysfunction is significantly associated with the increasing risk of prostate cancer by using case-control analysis in 120 PCa cases and 120 benign prostatic hypertrophy (BPH) cases in the Chinese population. 0.4 Long noncoding RNA PCA3 gene promoter region is related to the risk of prostate cancer on Chinese males. NCRV0000003983 26112096 miR-196a2 rs11614913 G N/a 355 samples of peripheral blood were obtained from the patients with pca and 353 samples from patients with benign prostatic hyperplasia (bph).312 volunteers derived from general population who gave samples of buccal swabs were included in the control group. EFO_0001663 N/A No significance for risk Prostate cancer rs11614913-G of miR-196a2 and its dysfunction is not significantly associated with prostate cancer by using case-control analysis in 355 samples of peripheral blood were obtained from the patients with PCa and 353 samples from patients with benign prostatic hyperplasia (BPH).312 volunteers derived from general population who gave samples of buccal swabs were included in the control group 0.4 Assessment of association between genetic variants in microRNA genes hsa-miR-499, hsa-miR-196a2 and hsa-miR-27a and prostate cancer risk in Serbian population. NCRV0000002030 26112096 miR-499 rs3746444 T N/a 355 samples of peripheral blood were obtained from the patients with pca and 353 samples from patients with benign prostatic hyperplasia (bph).312 volunteers derived from general population who gave samples of buccal swabs were included in the control group. EFO_0001663 N/A No significance for risk Prostate cancer rs3746444-T of miR-499 and its dysfunction is not significantly associated with prostate cancer by using case-control analysis in 355 samples of peripheral blood were obtained from the patients with PCa and 353 samples from patients with benign prostatic hyperplasia (BPH).312 volunteers derived from general population who gave samples of buccal swabs were included in the control group 0.4 Assessment of association between genetic variants in microRNA genes hsa-miR-499, hsa-miR-196a2 and hsa-miR-27a and prostate cancer risk in Serbian population. NCRV0000002894 26112096 hsa-miR-27a rs895819 C Dominant 355 samples of peripheral blood were obtained from the patients with pca and 353 samples from patients with benign prostatic hyperplasia (bph).312 volunteers derived from general population who gave samples of buccal swabs were included in the control group. EFO_0001663 N/A Increasing risk Prostate cancer rs895819-C of hsa-miR-27a and its dysfunction is significantly associated with the increasing risk of prostate cancer by using case-control analysis in 355 samples of peripheral blood were obtained from the patients with PCa and 353 samples from patients with benign prostatic hyperplasia (BPH).312 volunteers derived from general population who gave samples of buccal swabs were included in the control group 0.4 Assessment of association between genetic variants in microRNA genes hsa-miR-499, hsa-miR-196a2 and hsa-miR-27a and prostate cancer risk in Serbian population. NCRV0000002250 27526323 PCAT1 rs7463708 T N/a 127 prostate cancer patients EFO_0001663 N/A Increased risk and poor prognosis Prostate cancer rs7463708-T of PCAT1 and its dysfunction is significantly associated with the increasing risk and poor prognosis of prostate cancer by using meta-analysis in 127 prostate cancer patients. By using the disease cell lines or tissues, the interference and mutation of PCAT1 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. Moreover, the ncRNA variation-disease association was validated by complex experiments. 1.4 Modulation of long noncoding RNAs by risk SNPs underlying genetic predispositions to prostate cancer. NCRV0000002420 28259691 HOTAIR rs12826786 T Dominant 128 iranian prostate cancer patients and 250 normal male controls EFO_0001663 N/A Increasing risk Prostate cancer rs12826786-T of HOTAIR and its dysfunction is significantly associated with the increasing risk of Prostate cancer by using case-control analysis in 128 Iranian prostate cancer patients and 250 normal male controls. 0.4 HOTAIR genetic variants are associated with prostate cancer and benign prostate hyperplasia in an Iranian population. NCRV0000001028 28259691 HOTAIR rs4759314 A N/a 128 iranian prostate cancer patients and 250 normal male controls EFO_0001663 N/A No significance for risk Prostate cancer rs4759314-A of HOTAIR and its dysfunction is not significantly associated with Prostate cancer by using case-control analysis in 128 Iranian prostate cancer patients and 250 normal male controls. 0.4 HOTAIR genetic variants are associated with prostate cancer and benign prostate hyperplasia in an Iranian population. NCRV0000000750 28259691 HOTAIR rs1899663 T Dominant 128 iranian prostate cancer patients and 250 normal male controls EFO_0001663 N/A No significance for risk Prostate cancer rs1899663-T of HOTAIR and its dysfunction is not significantly associated with Prostate cancer by using case-control analysis in 128 Iranian prostate cancer patients and 250 normal male controls. 0.4 HOTAIR genetic variants are associated with prostate cancer and benign prostate hyperplasia in an Iranian population. NCRV0000002190 28555645 paRNA rs16260 ? Dominant Prostate cancer cells EFO_0001663 N/A Increasing risk Prostate cancer rs16260-? of paRNA and its dysfunction is significantly associated with the increasing risk of prostate cancer by using analysis of sequence variation in prostate cancer cells. By using the disease cell lines or tissues, the interference and mutation of paRNA has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. Moreover, the ncRNA variation-disease association was validated by complex experiments. 1.4 A promoter-proximal transcript targeted by genetic polymorphism controls E-cadherin silencing in human cancers. NCRV0000000636 28621612 ANRIL rs10757278 ? N/a 125 prostate cancer patients and 220 normal age-matched subjects EFO_0001663 N/A Increasing risk Prostate cancer rs10757278-? of ANRIL and its dysfunction is significantly associated with the increasing risk of prostate cancer by using case-control analysis in 125 prostate cancer patients and 220 normal age-matched subjects . 0.4 Association of ANRIL gene polymorphisms with prostate cancer and benign prostatic hyperplasia in an Iranian population. NCRV0000003736 28621612 ANRIL rs1333048 ? N/a 125 prostate cancer patients and 220 normal age-matched subjects EFO_0001663 N/A Increasing risk Prostate cancer rs1333048-? of ANRIL and its dysfunction is significantly associated with the increasing risk of prostate cancer by using case-control analysis in 125 prostate cancer patients and 220 normal age-matched subjects . 0.4 Association of ANRIL gene polymorphisms with prostate cancer and benign prostatic hyperplasia in an Iranian population. NCRV0000001489 28621612 ANRIL rs4977574 ? N/a 125 prostate cancer patients and 220 normal age-matched subjects EFO_0001663 N/A Increasing risk Prostate cancer rs4977574-? of ANRIL and its dysfunction is significantly associated with the increasing risk of prostate cancer by using case-control analysis in 125 prostate cancer patients and 220 normal age-matched subjects . 0.4 Association of ANRIL gene polymorphisms with prostate cancer and benign prostatic hyperplasia in an Iranian population. NCRV0000000572 28621612 ANRIL rs1333045 ? N/a 125 prostate cancer patients and 220 normal age-matched subjects EFO_0001663 N/A No significance for risk Prostate cancer rs1333045-? of ANRIL and its dysfunction is not significantly associated with prostate cancer by using case-control analysis in 125 prostate cancer patients and 220 normal age-matched subjects . 0.4 Association of ANRIL gene polymorphisms with prostate cancer and benign prostatic hyperplasia in an Iranian population. NCRV0000000572 28621612 ANRIL rs1333045 ? N/a 125 prostate cancer patients and 220 normal age-matched subjects EFO_0001663 N/A No significance for risk Prostate cancer rs1333045-? of ANRIL and its dysfunction is not significantly associated with prostate cancer by using case-control analysis in 125 prostate cancer patients and 220 normal age-matched subjects . 0.4 Association of ANRIL gene polymorphisms with prostate cancer and benign prostatic hyperplasia in an Iranian population. NCRV0000003983 30001553 miR-196a2 rs11614913 T N/a 2,227 prostate cancer patients and 2,331 control subjects in asian EFO_0001663 N/A Increasing risk Prostate cancer rs11614913-T of miR-196a2 and its dysfunction is significantly associated with the increasing risk of prostate cancer by using meta-analysis in 2,227 prostate cancer patients and 2,331 control subjects in Asian. 0.4 The Association Between Three Genetic Variants in MicroRNAs (Rs11614913, Rs2910164, Rs3746444) and Prostate Cancer Risk. NCRV0000001163 30001553 miR-146a rs2910164 C Recessive 2,227 prostate cancer patients and 2,331 control subjects in asian population EFO_0001663 N/A Decreasing risk Prostate cancer rs2910164-C of miR-146a and its dysfunction is significantly associated with the decreasing risk of prostate cancer by using meta-analysis in 2,227 prostate cancer patients and 2,331 control subjects in Asian population. 0.4 The Association Between Three Genetic Variants in MicroRNAs (Rs11614913, Rs2910164, Rs3746444) and Prostate Cancer Risk. NCRV0000002030 30001553 miR-499 rs3746444 G Dominant 2,227 prostate cancer patients and 2,331 control subjects EFO_0001663 N/A Increasing risk Prostate cancer rs3746444-G of miR-499 and its dysfunction is significantly associated with the increasing risk of prostate cancer by using meta-analysis in 2,227 prostate cancer patients and 2,331 control subjects. 0.4 The Association Between Three Genetic Variants in MicroRNAs (Rs11614913, Rs2910164, Rs3746444) and Prostate Cancer Risk. NCRV0000002996 25209759 miR-146a rs2910164 G Dominant 521 han chinese patients with psoriasis and 582 healthy controls EFO_0000676 N/A Increasing risk Psoriasis rs2910164-G of miR-146a and its dysfunction is significantly associated with the increasing risk of psoriasis by using case-control analysis in 521 Han Chinese patients with psoriasis and 582 healthy controls . By using the disease cell lines or tissues, the interference and mutation of miR-146a has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 A single-nucleotide polymorphism of miR-146a and psoriasis: an association and functional study. NCRV0000003841 20500689 miRNA-146a rs2910164 C N/a 29 patients with psa, 49 patients with ankylosing spondylitis, and 66 ethnic matching random controls EFO_0003778 N/A No significance for risk Psoriatic arthritis rs2910164 -C of miRNA-146a and its dysfunction is not significantly associated with psoriatic arthritis by using case-control analysis in 29 patients with PsA, 49 patients with ankylosing spondylitis, and 66 ethnic matching random controls. 0.4 The role of microRNA-146a (miR-146a) and its target IL-1R-associated kinase (IRAK1) in psoriatic arthritis susceptibility. NCRV0000002570 25650003 miR-149 rs2292832 C N/a Chinese uygur (n = 662), kazak (n = 612), and southern han (n = 654) populations EFO_1000049 N/A No significance for risk Pulmonary tuberculosis rs2292832-C of miR-149 and its dysfunction is not significantly associated with pulmonary tuberculosis by using case-control analysis in Chinese Uygur (n = 662), Kazak (n = 612), and Southern Han (n = 654) populations . 0.4 Association of the miR-146a, miR-149, miR-196a2 and miR-499 polymorphisms with susceptibility to pulmonary tuberculosis in the Chinese Uygur, Kazak and Southern Han populations. NCRV0000000293 25650003 miR-196a2 rs11614913 C Dominant Chinese uygur (n = 662), kazak (n = 612), and southern han (n = 654) populations EFO_1000049 N/A Decreasing risk Pulmonary tuberculosis in the chinese kazak population rs11614913-C of miR-196a2 and its dysfunction is significantly associated with the decreasing risk of pulmonary tuberculosis in the Chinese Kazak population by using case-control analysis in Chinese Uygur (n = 662), Kazak (n = 612), and Southern Han (n = 654) populations . 0.4 Association of the miR-146a, miR-149, miR-196a2 and miR-499 polymorphisms with susceptibility to pulmonary tuberculosis in the Chinese Uygur, Kazak and Southern Han populations. NCRV0000003267 25650003 miR-146a rs2910164 G Codominant Chinese uygur (n = 662), kazak (n = 612), and southern han (n = 654) populations EFO_1000049 N/A Increasing risk Pulmonary tuberculosis in the chinese kazak population rs2910164-G of miR-146a and its dysfunction is significantly associated with the increasing risk of pulmonary tuberculosis in the Chinese Kazak population by using case-control analysis in Chinese Uygur (n = 662), Kazak (n = 612), and Southern Han (n = 654) populations . 0.4 Association of the miR-146a, miR-149, miR-196a2 and miR-499 polymorphisms with susceptibility to pulmonary tuberculosis in the Chinese Uygur, Kazak and Southern Han populations. NCRV0000001289 25650003 miR-499 rs3746444 C Dominant Chinese uygur (n = 662), kazak (n = 612), and southern han (n = 654) populations EFO_1000049 N/A Increasing risk Pulmonary tuberculosis in the chinese uygur population rs3746444-C of miR-499 and its dysfunction is significantly associated with the increasing risk of pulmonary tuberculosis in the Chinese Uygur population by using case-control analysis in Chinese Uygur (n = 662), Kazak (n = 612), and Southern Han (n = 654) populations . 0.4 Association of the miR-146a, miR-149, miR-196a2 and miR-499 polymorphisms with susceptibility to pulmonary tuberculosis in the Chinese Uygur, Kazak and Southern Han populations. NCRV0000000424 27156151 miR-196a2 rs11614913 T N/a 354 korean women: 120 patients with rif and 234 healthy controls with at least one live birth and no history of pregnancy loss MP_0001728 N/A No significance for risk Recurrent implantation failure rs11614913-T of miR-196a2 and its dysfunction is not significantly associated with recurrent implantation failure by using case-control analysis in 354 Korean women: 120 patients with RIF and 234 healthy controls with at least one live birth and no history of pregnancy loss. 0.4 Association of miR-146aC>G, miR-149C>T, miR-196a2T>C, and miR-499A>G polymorphisms with risk of recurrent implantation failure in Korean women. NCRV0000002787 27156151 miR-149 rs2292832 C N/a 354 korean women: 120 patients with rif and 234 healthy controls with at least one live birth and no history of pregnancy loss MP_0001728 N/A No significance for risk Recurrent implantation failure rs2292832-C of miR-149 and its dysfunction is not significantly associated with recurrent implantation failure by using case-control analysis in 354 Korean women: 120 patients with RIF and 234 healthy controls with at least one live birth and no history of pregnancy loss. 0.4 Association of miR-146aC>G, miR-149C>T, miR-196a2T>C, and miR-499A>G polymorphisms with risk of recurrent implantation failure in Korean women. NCRV0000001523 27156151 miR-146a rs2910164 G N/a 354 korean women: 120 patients with rif and 234 healthy controls with at least one live birth and no history of pregnancy loss MP_0001728 N/A No significance for risk Recurrent implantation failure rs2910164-G of miR-146a and its dysfunction is not significantly associated with recurrent implantation failure by using case-control analysis in 354 Korean women: 120 patients with RIF and 234 healthy controls with at least one live birth and no history of pregnancy loss. 0.4 Association of miR-146aC>G, miR-149C>T, miR-196a2T>C, and miR-499A>G polymorphisms with risk of recurrent implantation failure in Korean women. NCRV0000000257 27156151 miR-499 rs3746444 T N/a 354 korean women: 120 patients with rif and 234 healthy controls with at least one live birth and no history of pregnancy loss MP_0001728 N/A No significance for risk Recurrent implantation failure rs3746444-T of miR-499 and its dysfunction is not significantly associated with recurrent implantation failure by using case-control analysis in 354 Korean women: 120 patients with RIF and 234 healthy controls with at least one live birth and no history of pregnancy loss. 0.4 Association of miR-146aC>G, miR-149C>T, miR-196a2T>C, and miR-499A>G polymorphisms with risk of recurrent implantation failure in Korean women. NCRV0000001699 24700052 miR-196a rs11614913 C N/a All the 200 patients with rm reported to experience at least 3 unexplained miscarriages before 20th week of gestation. three hundred fertile women with no history of rms were taken as controls. EFO_1000954 N/A Increasing risk Recurrent miscarriage rs11614913-C of miR-196a and its dysfunction is significantly associated with the increasing risk of Recurrent miscarriage by using analysis of sequence variation in All the 200 patients with RM reported to experience at least 3 unexplained miscarriages before 20th week of gestation. Three hundred fertile women with no history of RMs were taken as controls 0.4 Recurrent miscarriage and micro-RNA among north Indian women. NCRV0000000022 24700052 miR-499 rs3746444 G N/a All the 200 patients with rm reported to experience at least 3 unexplained miscarriages before 20th week of gestation. three hundred fertile women with no history of rms were taken as controls. EFO_1000954 N/A Increasing risk Recurrent miscarriage rs3746444-G of miR-499 and its dysfunction is significantly associated with the increasing risk of Recurrent miscarriage by using analysis of sequence variation in All the 200 patients with RM reported to experience at least 3 unexplained miscarriages before 20th week of gestation. Three hundred fertile women with no history of RMs were taken as controls 0.4 Recurrent miscarriage and micro-RNA among north Indian women. NCRV0000001129 25479352 miR-125a rs12976445 T Dominant 389 chinese han rpl patients EFO_1000954 N/A Increasing risk Recurrent pregnancy loss rs12976445-T of miR-125a and its dysfunction is significantly associated with the increasing risk of recurrent pregnancy loss by using analysis of sequence variation in 389 Chinese Han RPL patients. By using the disease cell lines or tissues, the interference and mutation of miR-125a has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. Moreover, the ncRNA variation-disease association was validated by complex experiments. 1.4 Functional study of one nucleotide mutation in pri-miR-125a coding region which related to recurrent pregnancy loss. NCRV0000001122 25479352 miR-125a rs41275794 A Dominant 389 chinese han rpl patients EFO_1000954 N/A Increasing risk Recurrent pregnancy loss rs41275794-A of miR-125a and its dysfunction is significantly associated with the increasing risk of recurrent pregnancy loss by using analysis of sequence variation in 389 Chinese Han RPL patients. By using the disease cell lines or tissues, the interference and mutation of miR-125a has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. Moreover, the ncRNA variation-disease association was validated by complex experiments. 1.4 Functional study of one nucleotide mutation in pri-miR-125a coding region which related to recurrent pregnancy loss. NCRV0000000263 25479352 miR-125a rs534766417 G Dominant 389 chinese han rpl patients EFO_1000954 N/A Increasing risk Recurrent pregnancy loss rs534766417-G of miR-125a and its dysfunction is significantly associated with the increasing risk of recurrent pregnancy loss by using analysis of sequence variation in 389 Chinese Han RPL patients. By using the disease cell lines or tissues, the interference and mutation of miR-125a has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. Moreover, the ncRNA variation-disease association was validated by complex experiments. 1.4 Functional study of one nucleotide mutation in pri-miR-125a coding region which related to recurrent pregnancy loss. NCRV0000001699 28012790 miR-196a2 rs11614913 T Recessive 200 rpl couples and 400 healthy men EFO_1000954 N/A Increasing risk Recurrent pregnancy loss in female rs11614913-T of miR-196a2 and its dysfunction is significantly associated with the increasing risk of recurrent pregnancy loss in female by using case-control analysis in 200 RPL couples and 400 healthy men. 0.4 The role of parental microRNA alleles in recurrent pregnancy loss: an association study. NCRV0000000022 28012790 miR-499a rs3746444 C N/a 200 rpl couples and 400 healthy men EFO_1000954 N/A Decreasing risk Recurrent pregnancy loss in female rs3746444-C of miR-499a and its dysfunction is significantly associated with the decreasing risk of recurrent pregnancy loss in female by using case-control analysis in 200 RPL couples and 400 healthy men. 0.4 The role of parental microRNA alleles in recurrent pregnancy loss: an association study. NCRV0000002899 26824181 miR-10a rs3809783 T Dominant 200 patients with two or more consecutive unexplained spontaneous abortions among 13¨c16weeks were recruited from peking union medical college of china as cases. 200 normal pregnant women (gestational stages were among 13¨c16 weeks) EFO_1000954 N/A Increasing risk Recurrent spontaneous abortion rs3809783-T of miR-10a and its dysfunction is significantly associated with the increasing risk of recurrent spontaneous abortion by using case-control analysis in 200 patients with two or more consecutive unexplained spontaneous abortions among 13¨C16weeks were recruited from Peking Union Medical College of China as cases. 200 normal pregnant women (gestational stages were among 13¨C16 weeks) . By using the disease cell lines or tissues, the interference and mutation of miR-10a has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. Moreover, the ncRNA variation-disease association was validated by complex experiments. 1.4 A SNP in pri-miR-10a is associated with recurrent spontaneous abortion in a Han-Chinese population. NCRV0000001711 27342110 miR-196a2 rs11614913 T Dominant 230 cancer patients (including 17 types of cancer), 26 patients with pre-cancer lesions, and 100 unrelated controls. EFO_0002890 N/A Increasing risk Renal cancer rs11614913-T of miR-196a2 and its dysfunction is significantly associated with the increasing risk of renal cancer by using case-control analysis in 230 cancer patients (including 17 types of cancer), 26 patients with pre-cancer lesions, and 100 unrelated controls. . 0.4 MicroRNA-196a2 Biomarker and Targetome Network Analysis in Solid Tumors. NCRV0000000830 24681820 miR-196a2 rs11614913 C Recessive 355 cases and 362 controls in discovery set, meanwhile 647 cases and 660 controls in validation set, as well as rcc survival in 311 patients EFO_0000681 N/A Decreased risk and better prognosis Renal cell carcinoma rs11614913-C of miR-196a2 and its dysfunction is significantly associated with the decreasing risk and better prognosis of renal cell carcinoma by using case-control analysis in 355 cases and 362 controls in discovery set, meanwhile 647 cases and 660 controls in validation set, as well as RCC survival in 311 patients. By using the disease cell lines or tissues, the interference and mutation of miR-196a2 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Genetic variations in microRNAs and the risk and survival of renal cell cancer. NCRV0000000785 24681820 miR-149 rs2292832 C Dominant 355 cases and 362 controls in discovery set, meanwhile 647 cases and 660 controls in validation set, as well as rcc survival in 311 patients EFO_0000681 N/A Increasing risk Renal cell carcinoma rs2292832-C of miR-149 and its dysfunction is significantly associated with the increasing risk of renal cell carcinoma by using case-control analysis in 355 cases and 362 controls in discovery set, meanwhile 647 cases and 660 controls in validation set, as well as RCC survival in 311 patients. 0.4 Genetic variations in microRNAs and the risk and survival of renal cell cancer. NCRV0000000181 24681820 miR-146a rs2910164 G N/a 355 cases and 362 controls in discovery set, meanwhile 647 cases and 660 controls in validation set, as well as rcc survival in 311 patients EFO_0000681 N/A No significance for risk Renal cell carcinoma rs2910164-G of miR-146a and its dysfunction is not significantly associated with renal cell carcinoma by using case-control analysis in 355 cases and 362 controls in discovery set, meanwhile 647 cases and 660 controls in validation set, as well as RCC survival in 311 patients. 0.4 Genetic variations in microRNAs and the risk and survival of renal cell cancer. NCRV0000003650 24681820 miR-499 rs3746444 G N/a 355 cases and 362 controls in discovery set, meanwhile 647 cases and 660 controls in validation set, as well as rcc survival in 311 patients EFO_0000681 N/A No significance for risk Renal cell carcinoma rs3746444-G of miR-499 and its dysfunction is not significantly associated with renal cell carcinoma by using case-control analysis in 355 cases and 362 controls in discovery set, meanwhile 647 cases and 660 controls in validation set, as well as RCC survival in 311 patients. 0.4 Genetic variations in microRNAs and the risk and survival of renal cell cancer. NCRV0000000830 27509977 MIR196a2 rs11614913 T Dominant 65 renal cell carcinoma (rcc) and 150 controls EFO_0000681 N/A Increasing risk Renal cell carcinoma rs11614913-T of MIR196a2 and its dysfunction is significantly associated with the increasing risk of renal cell carcinoma by using case-control analysis in 65 renal cell carcinoma (RCC) and 150 controls. 0.4 Combined Genotype Analyses of Precursor miRNA196a2 and 499a Variants with Hepatic and Renal Cancer Susceptibility a Preliminary Study. NCRV0000003650 27509977 MIR499a rs3746444 G Dominant 65 renal cell carcinoma (rcc) and 150 controls EFO_0000681 N/A Increasing risk Renal cell carcinoma rs3746444-G of MIR499a and its dysfunction is significantly associated with the increasing risk of renal cell carcinoma by using case-control analysis in 65 renal cell carcinoma (RCC) and 150 controls. 0.4 Combined Genotype Analyses of Precursor miRNA196a2 and 499a Variants with Hepatic and Renal Cancer Susceptibility a Preliminary Study. NCRV0000000763 21181275 mir-146a rs2910164 C N/a 208 han chinese patients with ra and 240 healthy controls EFO_0000685 N/A No significance for risk Rheumatoid arthritis rs2910164-C of mir-146a and its dysfunction is not significantly associated with rheumatoid arthritis by using case-control analysis in 208 Han Chinese patients with RA and 240 healthy controls. 0.4 Association study of single nucleotide polymorphisms in pre-miRNA and rheumatoid arthritis in a Han Chinese population. NCRV0000000294 21181275 mir-499 rs3746444 C N/a 208 han chinese patients with ra and 240 healthy controls EFO_0000685 N/A No significance for risk Rheumatoid arthritis rs3746444-C of mir-499 and its dysfunction is not significantly associated with rheumatoid arthritis by using case-control analysis in 208 Han Chinese patients with RA and 240 healthy controls. 0.4 Association study of single nucleotide polymorphisms in pre-miRNA and rheumatoid arthritis in a Han Chinese population. NCRV0000000763 23138379 pre-miRNA-146a rs2910164 C N/a 104 patients with ra and 110 healthy individuals EFO_0000685 N/A No significance for risk Rheumatoid arthritis rs2910164-C of pre-miRNA-146a and its dysfunction is not significantly associated with rheumatoid arthritis by using case-control analysis in 104 patients with RA and 110 healthy individuals. 0.4 Association of pre-miRNA-146a rs2910164 and premiRNA-499 rs3746444 polymorphisms and susceptibility to rheumatoid arthritis. NCRV0000000294 23138379 pre-miRNA-499 rs3746444 C Dominant 104 patients with ra and 110 healthy individuals EFO_0000685 N/A Increasing risk Rheumatoid arthritis rs3746444-C of pre-miRNA-499 and its dysfunction is significantly associated with the increasing risk of rheumatoid arthritis by using case-control analysis in 104 patients with RA and 110 healthy individuals. 0.4 Association of pre-miRNA-146a rs2910164 and premiRNA-499 rs3746444 polymorphisms and susceptibility to rheumatoid arthritis. NCRV0000001404 27002721 miR-196a2 rs11614913 T N/a 95 ra patients diagnosed according to the american college of rheumatology and 200 healthy controls EFO_0000685 N/A No significance for risk Rheumatoid arthritis rs11614913-T of miR-196a2 and its dysfunction is not significantly associated with Rheumatoid arthritis by using case-control analysis in 95 RA patients diagnosed according to the American College of Rheumatology and 200 healthy controls. 0.4 Precursor miR-499a Variant but not miR-196a2 is Associated with Rheumatoid Arthritis Susceptibility in an Egyptian Population. NCRV0000000294 27002721 miR-499a rs3746444 G Dominant 95 ra patients diagnosed according to the american college of rheumatology and 200 healthy controls EFO_0000685 N/A Decreasing risk Rheumatoid arthritis rs3746444-G of miR-499a and its dysfunction is significantly associated with the decreasing risk of Rheumatoid arthritis by using case-control analysis in 95 RA patients diagnosed according to the American College of Rheumatology and 200 healthy controls. 0.4 Precursor miR-499a Variant but not miR-196a2 is Associated with Rheumatoid Arthritis Susceptibility in an Egyptian Population. NCRV0000000763 27342690 MIR146A rs2910164 C Dominant 192 ra patients and 278 age-matched healthy controls EFO_0000685 N/A Decreasing risk Rheumatoid arthritis rs2910164-C of MIR146A and its dysfunction is significantly associated with the decreasing risk of Rheumatoid arthritis by using case-control analysis in 192 RA patients and 278 age-matched healthy controls. 0.4 Polymorphisms in STAT-4, IL-10, PSORS1C1, PTPN2 and MIR146A genes are associated differently with prognostic factors in Italian patients affected by rheumatoid arthritis. NCRV0000000763 28083614 miR-146a-3p rs2910164 C N/a 111 patients and 130 healthy individuals EFO_0000685 N/A Increasing risk Rheumatoid arthritis rs2910164-C of miR-146a-3p and its dysfunction is significantly associated with the increasing risk of Rheumatoid Arthritis by using case-control analysis in 111 patients and 130 healthy individuals. 0.4 Significance of Polymorphism and Expression of miR-146a and NFkB1 Genetic Variants in Patients with Rheumatoid Arthritis. NCRV0000000763 25630616 miRNA-146a rs2910164 G N/a 1066 cases and 1513 controls EFO_0000685 N/A Increasing risk Rheumatoid arthritis in female rs2910164-G of miRNA-146a and its dysfunction is significantly associated with the increasing risk of rheumatoid arthritis in female by using case-control analysis in 1066 cases and 1513 controls. 0.4 Is the microRNA-146a (rs2910164) polymorphism associated with rheumatoid arthritis? Association of microRNA-146a (rs2910164) polymorphism and rheumatoid arthritis could depend on gender. NCRV0000000431 29705927 miRNA-196a2 rs11614913 C N/a 60 patients with salivary gland tumors (sgt) EFO_0003826 N/A No significance for risk Salivary gland tumors rs11614913-C of miRNA-196a2 and its dysfunction is not significantly associated with salivary gland tumors by using case-control analysis in 60 patients with salivary gland tumors (SGT). 0.4 Single nucleotide polymorphism rs11614913 associated with CC genotype in miR-196a2 is overrepresented in laryngeal squamous cell carcinoma, but not salivary gland tumors in Polish population. NCRV0000001067 21926974 MIR137 rs1625579 G Dominant 17836 cases and 33859 controls EFO_0000692 N/A Increasing risk Schizophrenia rs1625579-G of MIR137 and its dysfunction is significantly associated with the increasing risk of schizophrenia by using genome-wide association analysis in 17836 cases and 33859 controls. 0.4 Genome-wide association study identifies five new schizophrenia loci. NCRV0000001067 22850735 MIR137 rs1625579 T N/a Individuals at high genetic risk of scz (n=44), and healthy controls (n=81) EFO_0000692 N/A Increasing risk Schizophrenia rs1625579-T of MIR137 and its dysfunction is significantly associated with the increasing risk of schizophrenia by using case-control analysis in individuals at high genetic risk of SCZ (n=44), and healthy controls (n=81). By using the disease cell lines or tissues, the mutation of MIR137 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Impact of a microRNA MIR137 susceptibility variant on brain function in people at high genetic risk of schizophrenia or bipolar disorder. NCRV0000001067 23459466 miRNA-137 rs1625579 TT Recessive 510 patients with schizophrenia and 213 controls EFO_0000692 N/A Increasing risk Schizophrenia rs1625579 -TT of miRNA-137 and its dysfunction is significantly associated with the increasing risk of schizophrenia by using case-control analysis in 510 patients with schizophrenia and 213 controls. By using the disease cell lines or tissues, the mutation of miRNA-137 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. Moreover, the ncRNA variation-disease association was validated by complex experiments. 1.4 The genome-wide supported microRNA-137 variant predicts phenotypic heterogeneity within schizophrenia. NCRV0000001067 24275578 miR-137 rs1625579 T Recessive 1430 schizophrenia patients and 1570 healthy han chinese control subjects EFO_0000692 N/A Increasing risk Schizophrenia rs1625579-T of miR-137 and its dysfunction is significantly associated with the increasing risk of schizophrenia by using case-control analysis in 1430 schizophrenia patients and 1570 healthy Han Chinese control subjects. 0.4 MIR137 gene and target gene CACNA1C of miR-137 contribute to schizophrenia susceptibility in Han Chinese. NCRV0000001067 24361663 MIR137 rs1625579 T Recessive 81 healthy participants as carrier or non-carriers of the mir137 rs1625579 risk allele associated with schizophrenia EFO_0000692 N/A Increasing risk Schizophrenia rs1625579-T of MIR137 and its dysfunction is significantly associated with the increasing risk of schizophrenia by using case-control analysis in 81 healthy participants as carrier or non-carriers of the MIR137 rs1625579 risk allele associated with schizophrenia. By using the disease cell lines or tissues, the mutation of MIR137 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Effects of MIR137 on fronto-amygdala functional connectivity. NCRV0000001067 24625753 MIR137 rs1625579 T N/a 290 young, healthy han chinese individuals EFO_0000692 N/A Increasing risk Schizophrenia rs1625579-T of MIR137 and its dysfunction is significantly associated with the increasing risk of schizophrenia by using case-control analysis in 290 young, healthy Han Chinese individuals. 0.4 The impact of MIR137 on dorsolateral prefrontal-hippocampal functional connectivity in healthy subjects. NCRV0000001067 24820543 miRNA-137 rs1625579 T N/a 123 healthy participants EFO_0000692 N/A No significance for risk Schizophrenia rs1625579-T of miRNA-137 and its dysfunction is not significantly associated with schizophrenia by using analysis of sequence variation in 123 healthy participants. 0.4 Genome-wide schizophrenia variant at MIR137 does not impact white matter microstructure in healthy participants. NCRV0000001358 24888363 MIR137 rs1198588 A N/a 345 bd patients, 426 sz patients and 1376 healthy individuals, all unrelated, in v?sterbotten region of northern sweden EFO_0000692 N/A Decreasing risk Schizophrenia rs1198588-A of MIR137 and its dysfunction is significantly associated with the decreasing risk of schizophrenia by using case-control analysis in 345 BD patients, 426 SZ patients and 1376 healthy individuals, all unrelated, in V?sterbotten region of Northern Sweden. 0.4 MIR137 variants identified in psychiatric patients affect synaptogenesis and neuronal transmission gene sets. NCRV0000003121 24888363 MIR137 rs1553269376 ? Dominant 345 bd patients, 426 sz patients and 1376 healthy individuals, all unrelated, in v?sterbotten region of northern sweden EFO_0000692 N/A Increasing risk Schizophrenia rs1553269376-? of MIR137 and its dysfunction is significantly associated with the increasing risk of schizophrenia by using case-control analysis in 345 BD patients, 426 SZ patients and 1376 healthy individuals, all unrelated, in V?sterbotten region of Northern Sweden. By using the disease cell lines or tissues, the interference and mutation of MIR137 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 MIR137 variants identified in psychiatric patients affect synaptogenesis and neuronal transmission gene sets. NCRV0000001067 24888363 MIR137 rs1625579 T N/a 345 bd patients, 426 sz patients and 1376 healthy individuals, all unrelated, in v?sterbotten region of northern sweden EFO_0000692 N/A No significance for risk Schizophrenia rs1625579-T of MIR137 and its dysfunction is not significantly associated with schizophrenia by using case-control analysis in 345 BD patients, 426 SZ patients and 1376 healthy individuals, all unrelated, in V?sterbotten region of Northern Sweden. 0.4 MIR137 variants identified in psychiatric patients affect synaptogenesis and neuronal transmission gene sets. NCRV0000003018 24888363 MIR137 rs185304769 T N/a 345 bd patients, 426 sz patients and 1376 healthy individuals, all unrelated, in v?sterbotten region of northern sweden EFO_0000692 N/A Increasing risk Schizophrenia rs185304769-T of MIR137 and its dysfunction is significantly associated with the increasing risk of schizophrenia by using case-control analysis in 345 BD patients, 426 SZ patients and 1376 healthy individuals, all unrelated, in V?sterbotten region of Northern Sweden. By using the disease cell lines or tissues, the interference and mutation of MIR137 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 MIR137 variants identified in psychiatric patients affect synaptogenesis and neuronal transmission gene sets. NCRV0000000332 24888363 MIR137 rs58335419 ? Dominant 345 bd patients, 426 sz patients and 1376 healthy individuals, all unrelated, in v?sterbotten region of northern sweden EFO_0000692 N/A Increasing risk Schizophrenia rs58335419-? of MIR137 and its dysfunction is significantly associated with the increasing risk of schizophrenia by using case-control analysis in 345 BD patients, 426 SZ patients and 1376 healthy individuals, all unrelated, in V?sterbotten region of Northern Sweden. By using the disease cell lines or tissues, the interference and mutation of MIR137 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 MIR137 variants identified in psychiatric patients affect synaptogenesis and neuronal transmission gene sets. NCRV0000003107 24888363 MIR137 rs66642155 ? Dominant 345 bd patients, 426 sz patients and 1376 healthy individuals, all unrelated, in v?sterbotten region of northern sweden EFO_0000692 N/A Increasing risk Schizophrenia rs66642155-? of MIR137 and its dysfunction is significantly associated with the increasing risk of schizophrenia by using case-control analysis in 345 BD patients, 426 SZ patients and 1376 healthy individuals, all unrelated, in V?sterbotten region of Northern Sweden. By using the disease cell lines or tissues, the interference and mutation of MIR137 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 MIR137 variants identified in psychiatric patients affect synaptogenesis and neuronal transmission gene sets. NCRV0000001983 24888363 MIR137 rs71738863 ? Dominant 345 bd patients, 426 sz patients and 1376 healthy individuals, all unrelated, in v?sterbotten region of northern sweden EFO_0000692 N/A Increasing risk Schizophrenia rs71738863-? of MIR137 and its dysfunction is significantly associated with the increasing risk of schizophrenia by using case-control analysis in 345 BD patients, 426 SZ patients and 1376 healthy individuals, all unrelated, in V?sterbotten region of Northern Sweden. By using the disease cell lines or tissues, the interference and mutation of MIR137 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 MIR137 variants identified in psychiatric patients affect synaptogenesis and neuronal transmission gene sets. NCRV0000001067 25250332 miRNA-137 rs1625579 T N/a 611 schizophrenic patients from southern chinese han population EFO_0000692 N/A Increasing risk Schizophrenia rs1625579 -T of miRNA-137 and its dysfunction is significantly associated with the increasing risk of schizophrenia by using meta-analysis in 611 schizophrenic patients from Southern Chinese Han population. 0.4 Association of a miRNA-137 polymorphism with schizophrenia in a Southern Chinese Han population. NCRV0000000346 25434007 MIR137 rs543885789 T Dominant 2,610 sz cases and 2,611 controls of european ancestry EFO_0000692 N/A Increasing risk Schizophrenia rs543885789-T of MIR137 and its dysfunction is significantly associated with the increasing risk of schizophrenia by using case-control analysis in 2,610 SZ cases and 2,611 controls of European ancestry. By using the disease cell lines or tissues, the interference and mutation of MIR137 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 A rare functional noncoding variant at the GWAS-implicated MIR137/MIR2682 locus might confer risk to schizophrenia and bipolar disorder. NCRV0000000905 25434007 MIR2682 rs543885789 T Dominant 2,610 sz cases and 2,611 controls of european ancestry EFO_0000692 N/A Increasing risk Schizophrenia rs543885789-T of MIR2682 and its dysfunction is significantly associated with the increasing risk of schizophrenia by using case-control analysis in 2,610 SZ cases and 2,611 controls of European ancestry. By using the disease cell lines or tissues, the interference and mutation of MIR2682 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 A rare functional noncoding variant at the GWAS-implicated MIR137/MIR2682 locus might confer risk to schizophrenia and bipolar disorder. NCRV0000002867 26257337 pri-miR-219 rs107822 C Dominant 1041 patients with scz (531 males and 510 females; mean age: 33.65?¡À?9.14years) and 953 healthy controls (512 males and 441 females; mean age: 34.47?¡À?10.49 years) in the chinese population EFO_0000692 N/A Decreasing risk Schizophrenia rs107822-C of pri-miR-219 and its dysfunction is significantly associated with the decreasing risk of schizophrenia by using case-control analysis in 1041 patients with SCZ (531 males and 510 females; mean age: 33.65?¡À?9.14years) and 953 healthy controls (512 males and 441 females; mean age: 34.47?¡À?10.49 years) in the chinese population. 0.4 Polymorphisms in MicroRNA Genes And Genes Involving in NMDAR Signaling and Schizophrenia: A Case-Control Study in Chinese Han Population. NCRV0000003077 26257337 pri-miR-107 rs2296616 G N/a 1041 patients with scz (531 males and 510 females; mean age: 33.65?¡À?9.14years) and 953 healthy controls (512 males and 441 females; mean age: 34.47?¡À?10.49 years) in the chinese population EFO_0000692 N/A No significance for risk Schizophrenia rs2296616-G of pri-miR-107 and its dysfunction is not significantly associated with schizophrenia by using case-control analysis in 1041 patients with SCZ (531 males and 510 females; mean age: 33.65?¡À?9.14years) and 953 healthy controls (512 males and 441 females; mean age: 34.47?¡À?10.49 years) in the chinese population. 0.4 Polymorphisms in MicroRNA Genes And Genes Involving in NMDAR Signaling and Schizophrenia: A Case-Control Study in Chinese Han Population. NCRV0000003203 26257337 pri-miR-132 rs3803808 A N/a 1041 patients with scz (531 males and 510 females; mean age: 33.65?¡À?9.14years) and 953 healthy controls (512 males and 441 females; mean age: 34.47?¡À?10.49 years) in the chinese population EFO_0000692 N/A No significance for risk Schizophrenia rs3803808-A of pri-miR-132 and its dysfunction is not significantly associated with schizophrenia by using case-control analysis in 1041 patients with SCZ (531 males and 510 females; mean age: 33.65?¡À?9.14years) and 953 healthy controls (512 males and 441 females; mean age: 34.47?¡À?10.49 years) in the chinese population. 0.4 Polymorphisms in MicroRNA Genes And Genes Involving in NMDAR Signaling and Schizophrenia: A Case-Control Study in Chinese Han Population. NCRV0000000462 26429811 miR-137 rs2660304 G Dominant Schizophrenia EFO_0000692 N/A Increasing risk Schizophrenia rs2660304-G of miR-137 and its dysfunction is significantly associated with the increasing risk of schizophrenia by using analysis of sequence variation in schizophrenia. 0.4 A GWAS SNP for Schizophrenia Is Linked to the Internal MIR137 Promoter and Supports Differential Allele-Specific Expression. NCRV0000001841 27424800 miR-1307-3p rs11191648 ? N/a Schizophrenias EFO_0000692 N/A Increasing risk Schizophrenia rs11191648-? of miR-1307-3p and its dysfunction is significantly associated with the increasing risk of Schizophrenia by using genome-wide association analysis in Schizophrenias. 0.4 Schizophrenia risk variants affecting microRNA function and site-specific regulation of NT5C2 by miR-206. NCRV0000001561 27424800 mir-6833 rs114113397 ? N/a Schizophrenias EFO_0000692 N/A Increasing risk Schizophrenia rs114113397-? of mir-6833 and its dysfunction is significantly associated with the increasing risk of Schizophrenia by using genome-wide association analysis in Schizophrenias. 0.4 Schizophrenia risk variants affecting microRNA function and site-specific regulation of NT5C2 by miR-206. NCRV0000002871 27424800 mir-6721 rs114764276 ? N/a Schizophrenias EFO_0000692 N/A Increasing risk Schizophrenia rs114764276-? of mir-6721 and its dysfunction is significantly associated with the increasing risk of Schizophrenia by using genome-wide association analysis in Schizophrenias. 0.4 Schizophrenia risk variants affecting microRNA function and site-specific regulation of NT5C2 by miR-206. NCRV0000000260 27424800 mir-6832 rs116665625 ? N/a Schizophrenias EFO_0000692 N/A Increasing risk Schizophrenia rs116665625-? of mir-6832 and its dysfunction is significantly associated with the increasing risk of Schizophrenia by using genome-wide association analysis in Schizophrenias. 0.4 Schizophrenia risk variants affecting microRNA function and site-specific regulation of NT5C2 by miR-206. NCRV0000000876 27424800 mir-4640 rs141558605 ? N/a Schizophrenias EFO_0000692 N/A Increasing risk Schizophrenia rs141558605-? of mir-4640 and its dysfunction is significantly associated with the increasing risk of Schizophrenia by using genome-wide association analysis in Schizophrenias. 0.4 Schizophrenia risk variants affecting microRNA function and site-specific regulation of NT5C2 by miR-206. NCRV0000003976 27424800 mir-4646 rs3131383 ? N/a Schizophrenias EFO_0000692 N/A Increasing risk Schizophrenia rs3131383-? of mir-4646 and its dysfunction is significantly associated with the increasing risk of Schizophrenia by using genome-wide association analysis in Schizophrenias. 0.4 Schizophrenia risk variants affecting microRNA function and site-specific regulation of NT5C2 by miR-206. NCRV0000003584 27424800 miR-8064 rs4687672 ? N/a Schizophrenias EFO_0000692 N/A Increasing risk Schizophrenia rs4687672-? of miR-8064 and its dysfunction is significantly associated with the increasing risk of Schizophrenia by using genome-wide association analysis in Schizophrenias. 0.4 Schizophrenia risk variants affecting microRNA function and site-specific regulation of NT5C2 by miR-206. NCRV0000003481 27424800 mir-124-1 rs56280384 ? N/a Schizophrenias EFO_0000692 N/A Increasing risk Schizophrenia rs56280384-? of mir-124-1 and its dysfunction is significantly associated with the increasing risk of Schizophrenia by using genome-wide association analysis in Schizophrenias. 0.4 Schizophrenia risk variants affecting microRNA function and site-specific regulation of NT5C2 by miR-206. NCRV0000001757 27424800 mir-137 rs61786697 ? N/a Schizophrenias EFO_0000692 N/A Increasing risk Schizophrenia rs61786697-? of mir-137 and its dysfunction is significantly associated with the increasing risk of Schizophrenia by using genome-wide association analysis in Schizophrenias. 0.4 Schizophrenia risk variants affecting microRNA function and site-specific regulation of NT5C2 by miR-206. NCRV0000003811 27424800 mir-2682 rs61786697 ? N/a Schizophrenias EFO_0000692 N/A Increasing risk Schizophrenia rs61786697-? of mir-2682 and its dysfunction is significantly associated with the increasing risk of Schizophrenia by using genome-wide association analysis in Schizophrenias. 0.4 Schizophrenia risk variants affecting microRNA function and site-specific regulation of NT5C2 by miR-206. NCRV0000003636 27424800 mir-1281 rs8136923 ? N/a Schizophrenias EFO_0000692 N/A Increasing risk Schizophrenia rs8136923-? of mir-1281 and its dysfunction is significantly associated with the increasing risk of Schizophrenia by using genome-wide association analysis in Schizophrenias. 0.4 Schizophrenia risk variants affecting microRNA function and site-specific regulation of NT5C2 by miR-206. NCRV0000002099 27424800 mir-6891 rs9266207 ? N/a Schizophrenias EFO_0000692 N/A Increasing risk Schizophrenia rs9266207-? of mir-6891 and its dysfunction is significantly associated with the increasing risk of Schizophrenia by using genome-wide association analysis in Schizophrenias. 0.4 Schizophrenia risk variants affecting microRNA function and site-specific regulation of NT5C2 by miR-206. NCRV0000000214 20347265 microRNA-30e rs178077483 T N/a 456 patients with schizophrenia EFO_0000692 N/A Increasing risk Schizophrenia rs178077483-T of microRNA-30e and its dysfunction is significantly associated with the increasing risk of schizophrenia by using analysis of sequence variation in 456 patients with schizophrenia. 0.4 MicroRNAs and target site screening reveals a pre-microRNA-30e variant associated with schizophrenia. NCRV0000001067 25241074 miR-137 rs1625579 T N/a 506 scz cases and 522 healthy controls in the han chinese population EFO_0000692 N/A No significance for risk Schizophrenia rs1625579-T of miR-137 and its dysfunction is not significantly associated with schizophrenia by using case-control analysis in 506 SCZ cases and 522 healthy controls in the Han Chinese population. 0.4 Lack of association between microRNA-137 SNP rs1625579 and schizophrenia in a replication study of Han Chinese. NCRV0000001710 24701036 miR-146a rs2910164 G Dominant 226 sepsis cases and 206 healthy controls in a chinese han population HP_0100806 N/A Increasing risk Sepsis rs2910164-G of miR-146a and its dysfunction is significantly associated with the increasing risk of sepsis by using case-control analysis in 226 sepsis cases and 206 healthy controls in a Chinese Han population. 0.4 The functional polymorphisms of miR-146a are associated with susceptibility to severe sepsis in the Chinese population. NCRV0000001366 24701036 miR-146a rs57095329 G N/a 226 sepsis cases and 206 healthy controls in a chinese han population HP_0100806 N/A No significance for risk Sepsis rs57095329-G of miR-146a and its dysfunction is not significantly associated with sepsis by using case-control analysis in 226 sepsis cases and 206 healthy controls in a Chinese Han population. 0.4 The functional polymorphisms of miR-146a are associated with susceptibility to severe sepsis in the Chinese population. NCRV0000001478 24743625 miR-608 rs4919510 C N/a Sepsis of 1268 trauma patients (1 screening cohort, n = 666) and 2 independent validated cohorts (n = 286 and n = 316, respectively) in china. HP_0100806 N/A Increasing risk Sepsis with major blunt trauma rs4919510-C of miR-608 and its dysfunction is significantly associated with the increasing risk of sepsis with major blunt trauma by using meta-analysis in sepsis of 1268 trauma patients (1 screening cohort, n = 666) and 2 independent validated cohorts (n = 286 and n = 316, respectively) in China By using the disease cell lines or tissues, the mutation of miR-608 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Genetic variants of microRNA sequences and susceptibility to sepsis in patients with major blunt trauma. NCRV0000001339 26804235 MIR27A rs11671784 T N/a 1,592 patients EFO_0000311 fluoropyrimidine No significance for risk Severe fluoropyrimidine-associated toxicity rs11671784-T of MIR27A and its dysfunction is not significantly associated with severe fluoropyrimidine-associated toxicity by using analysis of sequence variation in 1,592 patients. 0.4 Rs895819 in MIR27A improves the predictive value of DPYD variants to identify patients at risk of severe fluoropyrimidine-associated toxicity. NCRV0000002795 26804235 MIR27A rs895819 G Dominant 1,592 patients EFO_0000311 fluoropyrimidine Increasing risk Severe fluoropyrimidine-associated toxicity rs895819-G of MIR27A and its dysfunction is significantly associated with the increasing risk of severe fluoropyrimidine-associated toxicity by using analysis of sequence variation in 1,592 patients. 0.4 Rs895819 in MIR27A improves the predictive value of DPYD variants to identify patients at risk of severe fluoropyrimidine-associated toxicity. NCRV0000001339 26804235 MIR27A rs11671784 T N/a 1,592 patients EFO_0000311 fluoropyrimidine No significance for risk Severe fluoropyrimidine-associated toxicity in dpyd wild-type patients rs11671784-T of MIR27A and its dysfunction is not significantly associated with severe fluoropyrimidine-associated toxicity in DPYD wild-type patients by using analysis of sequence variation in 1,592 patients. 0.4 Rs895819 in MIR27A improves the predictive value of DPYD variants to identify patients at risk of severe fluoropyrimidine-associated toxicity. NCRV0000002795 26804235 MIR27A rs895819 G N/a 1,592 patients EFO_0000311 fluoropyrimidine No significance for risk Severe fluoropyrimidine-associated toxicity in dpyd wild-type patients rs895819-G of MIR27A and its dysfunction is not significantly associated with severe fluoropyrimidine-associated toxicity in DPYD wild-type patients by using analysis of sequence variation in 1,592 patients. 0.4 Rs895819 in MIR27A improves the predictive value of DPYD variants to identify patients at risk of severe fluoropyrimidine-associated toxicity. NCRV0000001931 28103790 miRNA-146a rs2910164 C N/a 95 normotensive and 98 pe black sa women EFO_0000668 N/A Decreasing risk Severe preeclampsia rs2910164-C of miRNA-146a and its dysfunction is significantly associated with the decreasing risk of severe preeclampsia by using case-control analysis in 95 normotensive and 98 PE Black SA women. 0.4 MicroRNA-146a rs2910164 is associated with severe preeclampsia in Black South African women on HAART. NCRV0000002398 23143626 miR-196a2 rs11614913 C Recessive 442 chinese patients EFO_0001071 N/A Increasing risk Severe toxicity in lung cancer rs11614913-C of miR-196a2 and its dysfunction is significantly associated with the increasing risk of severe toxicity in lung cancer by using analysis of sequence variation in 442 Chinese patients. 0.4 Hsa-miR-196a2 functional SNP is associated with severe toxicity after platinum-based chemotherapy of advanced nonsmall cell lung cancer patients in a Chinese population. NCRV0000000678 25616704 miRNA-126 rs4636297 A N/a 531 individuals with diabetes EFO_0003770 N/A Increasing risk Sight threatening diabetic retinopathy rs4636297 -A of miRNA-126 and its dysfunction is significantly associated with the increasing risk of sight threatening diabetic retinopathy by using analysis of sequence variation in 531 individuals with diabetes. 0.4 A genetic variant regulating miR-126 is associated with sight threatening diabetic retinopathy. NCRV0000002550 21892160 miR-17-92_cluster miR-17-92_cluster Deletion - Dominant Skeletal and growth defects Orphanet_404584 N/A Increasing risk Skeletal and growth defects Deletion of miR-17-92_cluster and its dysfunction is significantly associated with the increasing risk of skeletal and growth defects by using analysis of sequence variation in skeletal and growth defects. By using the disease cell lines or tissues, the interference and mutation of miR-17-92_cluster has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. Moreover, the ncRNA variation-disease association was validated by complex experiments. Furthermore, the physiological function of miR-17-92_cluster(mutation or interference expression) is documented by organism models in vivo such as xenograft or transgenic model etc. 2 Germline deletion of the miR-17 approximately 92 cluster causes skeletal and growth defects in humans. NCRV0000001012 27342110 miR-196a2 rs11614913 T Dominant 230 cancer patients (including 17 types of cancer), 26 patients with pre-cancer lesions, and 100 unrelated controls. EFO_0009259 N/A Increasing risk Skin cancer rs11614913-T of miR-196a2 and its dysfunction is significantly associated with the increasing risk of skin cancer by using case-control analysis in 230 cancer patients (including 17 types of cancer), 26 patients with pre-cancer lesions, and 100 unrelated controls. . 0.4 MicroRNA-196a2 Biomarker and Targetome Network Analysis in Solid Tumors. NCRV0000003014 26476291 miR146a rs2910164 G N/a 160 sporadic breast cancer cases and matched controls in an australian population, with a replicate population of 403 breast cancer cases EFO_0000305 N/A Increasing risk Sporadic breast cancer rs2910164-G of miR146a and its dysfunction is significantly associated with the increasing risk of sporadic breast cancer by using case-control analysis in 160 sporadic breast cancer cases and matched controls in an Australian population, with a replicate population of 403 breast cancer cases . 0.4 Association of the microRNA-Single Nucleotide Polymorphism rs2910164 in miR146a with sporadic breast cancer susceptibility: A case control study. NCRV0000000203 28920960 EGFR-AS1 rs10251977 A Dominant 2 patients with head and neck scc (hnscc) who were exceptional responders to gefitinib, and we showed in patient-derived cultures that the a/a genotype was associated with greater sensitivity to tyrosine kinase inhibitors (tkis) as compared to the g/a and g/g genotypes. EFO_0000707 Gefitinib; Erlotinib; Afatinib; Dacomatinib; Lapatinib Better prognosis Squamous cell carcinoma rs10251977-A of EGFR-AS1 and its dysfunction is significantly associated with the better prognosis of squamous cell carcinoma by using case-control analysis in 2 patients with head and neck SCC (HNSCC) who were exceptional responders to gefitinib, and we showed in patient-derived cultures that the A/A genotype was associated with greater sensitivity to tyrosine kinase inhibitors (TKIs) as compared to the G/A and G/G genotypes By using the disease cell lines or tissues, the interference and mutation of EGFR-AS1 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. Moreover, the ncRNA variation-disease association was validated by complex experiments. Furthermore, the physiological function of EGFR-AS1(mutation or interference expression) is documented by organism models in vivo such as xenograft or transgenic model etc. 2 Long noncoding RNA EGFR-AS1 mediates epidermal growth factor receptor addiction and modulates treatment response in squamous cell carcinoma. NCRV0000002802 20549817 mir-196a2 rs11614913 T N/a 1109 patients with scchn (cases) and in 1130 cancer-free patients (controls) EFO_0000181 N/A No significance for risk Squamous cell carcinoma of the head and neck rs11614913-T of mir-196a2 and its dysfunction is not significantly associated with squamous cell carcinoma of the head and neck by using case-control analysis in 1109 patients with SCCHN (cases) and in 1130 cancer-free patients (controls). 0.4 Genetic variants in selected pre-microRNA genes and the risk of squamous cell carcinoma of the head and neck. NCRV0000002655 20549817 mir-149 rs2292832 T N/a 1109 patients with scchn (cases) and in 1130 cancer-free patients (controls) EFO_0000181 N/A No significance for risk Squamous cell carcinoma of the head and neck rs2292832-T of mir-149 and its dysfunction is not significantly associated with squamous cell carcinoma of the head and neck by using case-control analysis in 1109 patients with SCCHN (cases) and in 1130 cancer-free patients (controls). 0.4 Genetic variants in selected pre-microRNA genes and the risk of squamous cell carcinoma of the head and neck. NCRV0000001574 20549817 mir-146a rs2910164 C N/a 1109 patients with scchn (cases) and in 1130 cancer-free patients (controls) EFO_0000181 N/A No significance for risk Squamous cell carcinoma of the head and neck rs2910164-C of mir-146a and its dysfunction is not significantly associated with squamous cell carcinoma of the head and neck by using case-control analysis in 1109 patients with SCCHN (cases) and in 1130 cancer-free patients (controls). 0.4 Genetic variants in selected pre-microRNA genes and the risk of squamous cell carcinoma of the head and neck. NCRV0000002781 20549817 mir-499 rs3746444 G Dominant 1109 patients with scchn (cases) and in 1130 cancer-free patients (controls) EFO_0000181 N/A Decreasing risk Squamous cell carcinoma of the head and neck rs3746444-G of mir-499 and its dysfunction is significantly associated with the decreasing risk of squamous cell carcinoma of the head and neck by using case-control analysis in 1109 patients with SCCHN (cases) and in 1130 cancer-free patients (controls). 0.4 Genetic variants in selected pre-microRNA genes and the risk of squamous cell carcinoma of the head and neck. NCRV0000002802 27050146 mir-196a2 rs11614913 T N/a 996 patients with newly diagnosed, previously untreated, histopathologically confirmed index sccnop EFO_0000181 N/A No significance for risk Squamous cell carcinomas of the nonoropharynx rs11614913-T of mir-196a2 and its dysfunction is not significantly associated with squamous cell carcinomas of the nonoropharynx by using case-control analysis in 996 patients with newly diagnosed, previously untreated, histopathologically confirmed index SCCNOP. 0.4 Pre-miRNA variants as predictors of clinical outcome in patients with squamous cell carcinomas of the nonoropharynx. NCRV0000002655 27050146 mir-149 rs2292832 C Recessive 996 patients with newly diagnosed, previously untreated, histopathologically confirmed index sccnop EFO_0000181 N/A Better prognosis Squamous cell carcinomas of the nonoropharynx rs2292832-C of mir-149 and its dysfunction is significantly associated with the better prognosis of squamous cell carcinomas of the nonoropharynx by using case-control analysis in 996 patients with newly diagnosed, previously untreated, histopathologically confirmed index SCCNOP. 0.4 Pre-miRNA variants as predictors of clinical outcome in patients with squamous cell carcinomas of the nonoropharynx. NCRV0000001574 27050146 mir-146a rs2910164 G N/a 996 patients with newly diagnosed, previously untreated, histopathologically confirmed index sccnop EFO_0000181 N/A No significance for risk Squamous cell carcinomas of the nonoropharynx rs2910164-G of mir-146a and its dysfunction is not significantly associated with squamous cell carcinomas of the nonoropharynx by using case-control analysis in 996 patients with newly diagnosed, previously untreated, histopathologically confirmed index SCCNOP. 0.4 Pre-miRNA variants as predictors of clinical outcome in patients with squamous cell carcinomas of the nonoropharynx. NCRV0000002781 27050146 mir-499 rs3746444 T Recessive 996 patients with newly diagnosed, previously untreated, histopathologically confirmed index sccnop EFO_0000181 N/A Better prognosis Squamous cell carcinomas of the nonoropharynx rs3746444-T of mir-499 and its dysfunction is significantly associated with the better prognosis of squamous cell carcinomas of the nonoropharynx by using case-control analysis in 996 patients with newly diagnosed, previously untreated, histopathologically confirmed index SCCNOP. 0.4 Pre-miRNA variants as predictors of clinical outcome in patients with squamous cell carcinomas of the nonoropharynx. NCRV0000002440 21738483 miR-146a rs57095329 G Dominant 3968 cases and 3214 controls EFO_0002690 N/A Increasing risk Systemic lupus erythematosus rs57095329-G of miR-146a and its dysfunction is significantly associated with the increasing risk of Systemic lupus erythematosus by using case-control analysis in 3968 cases and 3214 controls. By using the disease cell lines or tissues, the interference and mutation of miR-146a has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. Moreover, the ncRNA variation-disease association was validated by complex experiments. 1.4 A functional variant in microRNA-146a promoter modulates its expression and confers disease risk for systemic lupus erythematosus. NCRV0000002488 22218224 miR-146a rs2431697 T N/a 1324 sle patients and 1453 healthy controls EFO_0002690 N/A Increasing risk Systemic lupus erythematosus rs2431697-T of miR-146a and its dysfunction is significantly associated with the increasing risk of systemic lupus erythematosus by using genome-wide association analysis in 1324 SLE patients and 1453 healthy controls. 0.4 Genetic association of miRNA-146a with systemic lupus erythematosus in Europeans through decreased expression of the gene. NCRV0000000368 23262343 miRNA-146a rs2910164 C N/a 357 tle patients and 543 healthy controls EFO_0000773 N/A No significance for risk Temporal lobe epilepsy rs2910164 -C of miRNA-146a and its dysfunction is not significantly associated with temporal lobe epilepsy by using case-control analysis in 357 TLE patients and 543 healthy controls. 0.4 Relationship between genetic variant in pre-microRNA-146a and genetic predisposition to temporal lobe epilepsy: a case-control study. NCRV0000003325 19164563 microRNA-146a rs2910164 GC N/a 16 samples of thyroid tissue derived from ptc patients EFO_0002892 N/A Increasing risk Thyroid cancer rs2910164-GC of microRNA-146a and its dysfunction is significantly associated with the increasing risk of thyroid cancer by using case-control analysis in 16 samples of thyroid tissue derived from PTC patients. By using the disease cell lines or tissues, the interference and mutation of microRNA-146a has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. Moreover, the ncRNA variation-disease association was validated by complex experiments. 1.4 Polymorphic mature microRNAs from passenger strand of pre-miR-146a contribute to thyroid cancer. NCRV0000002629 27342110 miR-196a2 rs11614913 T Dominant 230 cancer patients (including 17 types of cancer), 26 patients with pre-cancer lesions, and 100 unrelated controls. EFO_0002892 N/A Increasing risk Thyroid cancer rs11614913-T of miR-196a2 and its dysfunction is significantly associated with the increasing risk of thyroid cancer by using case-control analysis in 230 cancer patients (including 17 types of cancer), 26 patients with pre-cancer lesions, and 100 unrelated controls. . 0.4 MicroRNA-196a2 Biomarker and Targetome Network Analysis in Solid Tumors. NCRV0000003104 23555923 hsa-mir-373 rs10425222 A N/a 191 patients with tnbc and 192 healthy female controls EFO_0005537 N/A No significance for risk Triple-negative breast cancer rs10425222-A of hsa-mir-373 and its dysfunction is not significantly associated with Triple-negative breast cancer by using case-control analysis in 191 patients with TNBC and 192 healthy female controls. 0.4 There is no association between microRNA gene polymorphisms and risk of triple negative breast cancer in a Chinese Han population. NCRV0000002265 23555923 hsa-mir-943 rs1077020 T N/a 191 patients with tnbc and 192 healthy female controls EFO_0005537 N/A No significance for risk Triple-negative breast cancer rs1077020-T of hsa-mir-943 and its dysfunction is not significantly associated with Triple-negative breast cancer by using case-control analysis in 191 patients with TNBC and 192 healthy female controls. 0.4 There is no association between microRNA gene polymorphisms and risk of triple negative breast cancer in a Chinese Han population. NCRV0000001034 23555923 hsa-mir-196a2 rs11614913 C N/a 191 patients with tnbc and 192 healthy female controls EFO_0005537 N/A No significance for risk Triple-negative breast cancer rs11614913-C of hsa-mir-196a2 and its dysfunction is not significantly associated with Triple-negative breast cancer by using case-control analysis in 191 patients with TNBC and 192 healthy female controls. 0.4 There is no association between microRNA gene polymorphisms and risk of triple negative breast cancer in a Chinese Han population. NCRV0000000564 23555923 hsa-mir-373 rs12983273 T N/a 191 patients with tnbc and 192 healthy female controls EFO_0005537 N/A No significance for risk Triple-negative breast cancer rs12983273-T of hsa-mir-373 and its dysfunction is not significantly associated with Triple-negative breast cancer by using case-control analysis in 191 patients with TNBC and 192 healthy female controls. 0.4 There is no association between microRNA gene polymorphisms and risk of triple negative breast cancer in a Chinese Han population. NCRV0000000601 23555923 hsa-mir-30c-1 rs16827546 T N/a 191 patients with tnbc and 192 healthy female controls EFO_0005537 N/A No significance for risk Triple-negative breast cancer rs16827546-T of hsa-mir-30c-1 and its dysfunction is not significantly associated with Triple-negative breast cancer by using case-control analysis in 191 patients with TNBC and 192 healthy female controls. 0.4 There is no association between microRNA gene polymorphisms and risk of triple negative breast cancer in a Chinese Han population. NCRV0000002315 23555923 hsa-let-7f-2 rs17276588 A N/a 191 patients with tnbc and 192 healthy female controls EFO_0005537 N/A No significance for risk Triple-negative breast cancer rs17276588-A of hsa-let-7f-2 and its dysfunction is not significantly associated with Triple-negative breast cancer by using case-control analysis in 191 patients with TNBC and 192 healthy female controls. 0.4 There is no association between microRNA gene polymorphisms and risk of triple negative breast cancer in a Chinese Han population. NCRV0000000761 23555923 hsa-mir-100 rs1834306 T N/a 191 patients with tnbc and 192 healthy female controls EFO_0005537 N/A No significance for risk Triple-negative breast cancer rs1834306-T of hsa-mir-100 and its dysfunction is not significantly associated with Triple-negative breast cancer by using case-control analysis in 191 patients with TNBC and 192 healthy female controls. 0.4 There is no association between microRNA gene polymorphisms and risk of triple negative breast cancer in a Chinese Han population. NCRV0000003666 23555923 hsa-mir-10b rs1867863 C N/a 191 patients with tnbc and 192 healthy female controls EFO_0005537 N/A No significance for risk Triple-negative breast cancer rs1867863-C of hsa-mir-10b and its dysfunction is not significantly associated with Triple-negative breast cancer by using case-control analysis in 191 patients with TNBC and 192 healthy female controls. 0.4 There is no association between microRNA gene polymorphisms and risk of triple negative breast cancer in a Chinese Han population. NCRV0000000473 23555923 hsa-mir-605 rs2043556 G N/a 191 patients with tnbc and 192 healthy female controls EFO_0005537 N/A No significance for risk Triple-negative breast cancer rs2043556-G of hsa-mir-605 and its dysfunction is not significantly associated with Triple-negative breast cancer by using case-control analysis in 191 patients with TNBC and 192 healthy female controls. 0.4 There is no association between microRNA gene polymorphisms and risk of triple negative breast cancer in a Chinese Han population. NCRV0000001920 23555923 hsa-mir-125b-1 rs2081443 G N/a 191 patients with tnbc and 192 healthy female controls EFO_0005537 N/A No significance for risk Triple-negative breast cancer rs2081443-G of hsa-mir-125b-1 and its dysfunction is not significantly associated with Triple-negative breast cancer by using case-control analysis in 191 patients with TNBC and 192 healthy female controls. 0.4 There is no association between microRNA gene polymorphisms and risk of triple negative breast cancer in a Chinese Han population. NCRV0000002994 23555923 hsa-mir-1206 rs2114358 C N/a 191 patients with tnbc and 192 healthy female controls EFO_0005537 N/A No significance for risk Triple-negative breast cancer rs2114358-C of hsa-mir-1206 and its dysfunction is not significantly associated with Triple-negative breast cancer by using case-control analysis in 191 patients with TNBC and 192 healthy female controls. 0.4 There is no association between microRNA gene polymorphisms and risk of triple negative breast cancer in a Chinese Han population. NCRV0000001427 23555923 hsa-mir-492 rs2289030 G N/a 191 patients with tnbc and 192 healthy female controls EFO_0005537 N/A No significance for risk Triple-negative breast cancer rs2289030-G of hsa-mir-492 and its dysfunction is not significantly associated with Triple-negative breast cancer by using case-control analysis in 191 patients with TNBC and 192 healthy female controls. 0.4 There is no association between microRNA gene polymorphisms and risk of triple negative breast cancer in a Chinese Han population. NCRV0000003457 23555923 hsa-mir-149 rs2292832 C N/a 191 patients with tnbc and 192 healthy female controls EFO_0005537 N/A No significance for risk Triple-negative breast cancer rs2292832-C of hsa-mir-149 and its dysfunction is not significantly associated with Triple-negative breast cancer by using case-control analysis in 191 patients with TNBC and 192 healthy female controls. 0.4 There is no association between microRNA gene polymorphisms and risk of triple negative breast cancer in a Chinese Han population. NCRV0000000266 23555923 hsa-mir-604 rs2368392 T N/a 191 patients with tnbc and 192 healthy female controls EFO_0005537 N/A No significance for risk Triple-negative breast cancer rs2368392-T of hsa-mir-604 and its dysfunction is not significantly associated with Triple-negative breast cancer by using case-control analysis in 191 patients with TNBC and 192 healthy female controls. 0.4 There is no association between microRNA gene polymorphisms and risk of triple negative breast cancer in a Chinese Han population. NCRV0000002159 23555923 hsa-mir-146a rs2910164 G N/a 191 patients with tnbc and 192 healthy female controls EFO_0005537 N/A No significance for risk Triple-negative breast cancer rs2910164-G of hsa-mir-146a and its dysfunction is not significantly associated with Triple-negative breast cancer by using case-control analysis in 191 patients with TNBC and 192 healthy female controls. 0.4 There is no association between microRNA gene polymorphisms and risk of triple negative breast cancer in a Chinese Han population. NCRV0000002567 23555923 hsa-mir-1274a rs318039 T N/a 191 patients with tnbc and 192 healthy female controls EFO_0005537 N/A No significance for risk Triple-negative breast cancer rs318039-T of hsa-mir-1274a and its dysfunction is not significantly associated with Triple-negative breast cancer by using case-control analysis in 191 patients with TNBC and 192 healthy female controls. 0.4 There is no association between microRNA gene polymorphisms and risk of triple negative breast cancer in a Chinese Han population. NCRV0000001421 23555923 hsa-mir-608 rs4919510 C N/a 191 patients with tnbc and 192 healthy female controls EFO_0005537 N/A No significance for risk Triple-negative breast cancer rs4919510-C of hsa-mir-608 and its dysfunction is not significantly associated with Triple-negative breast cancer by using case-control analysis in 191 patients with TNBC and 192 healthy female controls. 0.4 There is no association between microRNA gene polymorphisms and risk of triple negative breast cancer in a Chinese Han population. NCRV0000002897 23555923 hsa-mir-124-1 rs531564 G N/a 191 patients with tnbc and 192 healthy female controls EFO_0005537 N/A No significance for risk Triple-negative breast cancer rs531564-G of hsa-mir-124-1 and its dysfunction is not significantly associated with Triple-negative breast cancer by using case-control analysis in 191 patients with TNBC and 192 healthy female controls. 0.4 There is no association between microRNA gene polymorphisms and risk of triple negative breast cancer in a Chinese Han population. NCRV0000002691 23555923 hsa-mir-105-2 rs5970292 A N/a 191 patients with tnbc and 192 healthy female controls EFO_0005537 N/A No significance for risk Triple-negative breast cancer rs5970292-A of hsa-mir-105-2 and its dysfunction is not significantly associated with Triple-negative breast cancer by using case-control analysis in 191 patients with TNBC and 192 healthy female controls. 0.4 There is no association between microRNA gene polymorphisms and risk of triple negative breast cancer in a Chinese Han population. NCRV0000001789 23555923 hsa-mir-105-1 rs5970293 ? N/a 191 patients with tnbc and 192 healthy female controls EFO_0005537 N/A No significance for risk Triple-negative breast cancer rs5970293-? of hsa-mir-105-1 and its dysfunction is not significantly associated with Triple-negative breast cancer by using case-control analysis in 191 patients with TNBC and 192 healthy female controls. 0.4 There is no association between microRNA gene polymorphisms and risk of triple negative breast cancer in a Chinese Han population. NCRV0000000101 23555923 hsa-mir-423 rs6505162 A N/a 191 patients with tnbc and 192 healthy female controls EFO_0005537 N/A No significance for risk Triple-negative breast cancer rs6505162-A of hsa-mir-423 and its dysfunction is not significantly associated with Triple-negative breast cancer by using case-control analysis in 191 patients with TNBC and 192 healthy female controls. 0.4 There is no association between microRNA gene polymorphisms and risk of triple negative breast cancer in a Chinese Han population. NCRV0000000787 23555923 hsa-mir-26a-1 rs7372209 T N/a 191 patients with tnbc and 192 healthy female controls EFO_0005537 N/A No significance for risk Triple-negative breast cancer rs7372209-T of hsa-mir-26a-1 and its dysfunction is not significantly associated with Triple-negative breast cancer by using case-control analysis in 191 patients with TNBC and 192 healthy female controls. 0.4 There is no association between microRNA gene polymorphisms and risk of triple negative breast cancer in a Chinese Han population. NCRV0000000649 23555923 hsa-mir-27a rs895819 C N/a 191 patients with tnbc and 192 healthy female controls EFO_0005537 N/A No significance for risk Triple-negative breast cancer rs895819-C of hsa-mir-27a and its dysfunction is not significantly associated with Triple-negative breast cancer by using case-control analysis in 191 patients with TNBC and 192 healthy female controls. 0.4 There is no association between microRNA gene polymorphisms and risk of triple negative breast cancer in a Chinese Han population. NCRV0000003931 26997512 miR-146a rs2910164 C Dominant 890 participants had dn (168 with t1dm and 722 with t2dm), 731 had pdr (251 with t1dm and 480 with t2dm) and 1026 had dme (170 with t1dm and 856 with t2dm) EFO_0004996 N/A Increasing risk Type 1 (t1dm) diabetes mellitus with diabetic nephropathy rs2910164-C of miR-146a and its dysfunction is significantly associated with the increasing risk of type 1 (T1DM) diabetes mellitus with diabetic nephropathy by using case-control analysis in 890 participants had DN (168 with T1DM and 722 with T2DM), 731 had PDR (251 with T1DM and 480 with T2DM) and 1026 had DME (170 with T1DM and 856 with T2DM). 0.4 A single-nucleotide polymorphism in the MicroRNA-146a gene is associated with diabetic nephropathy and sight-threatening diabetic retinopathy in Caucasian patients. NCRV0000000848 26997512 miR-146a rs2910164 C Dominant 890 participants had dn (168 with t1dm and 722 with t2dm), 731 had pdr (251 with t1dm and 480 with t2dm) and 1026 had dme (170 with t1dm and 856 with t2dm) EFO_0009321 N/A Increasing risk Type 2 (t2dm) diabetes mellitus with diabetic macular oedema rs2910164-C of miR-146a and its dysfunction is significantly associated with the increasing risk of type 2 (T2DM) diabetes mellitus with diabetic macular oedema by using case-control analysis in 890 participants had DN (168 with T1DM and 722 with T2DM), 731 had PDR (251 with T1DM and 480 with T2DM) and 1026 had DME (170 with T1DM and 856 with T2DM). 0.4 A single-nucleotide polymorphism in the MicroRNA-146a gene is associated with diabetic nephropathy and sight-threatening diabetic retinopathy in Caucasian patients. NCRV0000000630 28164605 miR-149 rs2292832 C N/a 183 type 2 diabetic and 192 non-diabetic subjects EFO_0001360 N/A No significance for risk Type 2 diabetes rs2292832-C of miR-149 and its dysfunction is not significantly associated with type 2 diabetes by using case-control analysis in 183 type 2 diabetic and 192 non-diabetic subjects. 0.4 Association of miR-146a rs2910164 and miR-149 rs2292832 Variants with Susceptibility to Type 2 Diabetes. NCRV0000002258 28164605 miR-146a rs2910164 C Recessive 183 type 2 diabetic and 192 non-diabetic subjects EFO_0001360 N/A Increasing risk Type 2 diabetes rs2910164-C of miR-146a and its dysfunction is significantly associated with the increasing risk of type 2 diabetes by using case-control analysis in 183 type 2 diabetic and 192 non-diabetic subjects. 0.4 Association of miR-146a rs2910164 and miR-149 rs2292832 Variants with Susceptibility to Type 2 Diabetes. NCRV0000002258 25673459 miR-146a rs2910164 G N/a 995 patients newly diagnosed with t2dm and 967 controls. EFO_0001360 N/A No significance for risk Type 2 diabetes mellitus rs2910164-G of miR-146a and its dysfunction is not significantly associated with type 2 diabetes mellitus by using case-control analysis in 995 patients newly diagnosed with T2DM and 967 controls 0.4 Affection of single-nucleotide polymorphisms in miR-27a, miR-124a, and miR-146a on susceptibility to type 2 diabetes mellitus in Chinese Han people. NCRV0000001284 25673459 miR-124a rs531564 C N/a 995 patients newly diagnosed with t2dm and 967 controls within younger subjects (age < 45 years) EFO_0001360 N/A Decreasing risk Type 2 diabetes mellitus rs531564-C of miR-124a and its dysfunction is significantly associated with the decreasing risk of type 2 diabetes mellitus by using case-control analysis in 995 patients newly diagnosed with T2DM and 967 controls within younger subjects (age < 45 years). 0.4 Affection of single-nucleotide polymorphisms in miR-27a, miR-124a, and miR-146a on susceptibility to type 2 diabetes mellitus in Chinese Han people. NCRV0000001975 25673459 miR-27a rs895819 C Recessive 995 patients newly diagnosed with t2dm and 967 controls with overweight people (24 ¡Ü body mass index [bmi] < 28). EFO_0001360 N/A Increasing risk Type 2 diabetes mellitus rs895819-C of miR-27a and its dysfunction is significantly associated with the increasing risk of type 2 diabetes mellitus by using case-control analysis in 995 patients newly diagnosed with T2DM and 967 controls with overweight people (24 ¡Ü body mass index [BMI] < 28) 0.4 Affection of single-nucleotide polymorphisms in miR-27a, miR-124a, and miR-146a on susceptibility to type 2 diabetes mellitus in Chinese Han people. NCRV0000001975 27300034 mir-27a rs895819 C Dominant 204 t2dm patients and 209 sex- and age-matched controls EFO_0001360 N/A Decreasing risk Type 2 diabetes mellitus rs895819-C of mir-27a and its dysfunction is significantly associated with the decreasing risk of type 2 diabetes mellitus by using case-control analysis in 204 T2DM patients and 209 sex- and age-matched controls. 0.4 The pre-mir-27a variant rs895819 may contribute to type 2 diabetes mellitus susceptibility in an Iranian cohort. NCRV0000000234 23828613 pre-miR-34a rs72631823 A N/a Pancreatic beta cells EFO_0001360 N/A Increasing risk Type ii diabetes mellitus rs72631823-A of pre-miR-34a and its dysfunction is significantly associated with the increasing risk of type II diabetes mellitus by using analysis of sequence variation in pancreatic beta cells. By using the disease cell lines or tissues, the mutation of pre-miR-34a has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 A rare SNP in pre-miR-34a is associated with increased levels of miR-34a in pancreatic beta cells. NCRV0000001835 20848167 miR-196a2 rs11614913 T N/a 170 uc and 403 control subjects EFO_0000729 N/A Poor prognosis Ulcerative colitis rs11614913-T of miR-196a2 and its dysfunction is significantly associated with the increasing risk of ulcerative colitis by using case-control analysis in 170 UC and 403 control subjects. 0.4 Association study of common genetic variants in pre-microRNAs in patients with ulcerative colitis. NCRV0000003106 20848167 miR-146a rs2910164 G N/a 170 uc and 403 control subjects EFO_0000729 N/A No significance for risk Ulcerative colitis rs2910164-G of miR-146a and its dysfunction is not significantly associated with ulcerative colitis by using case-control analysis in 170 UC and 403 control subjects. 0.4 Association study of common genetic variants in pre-microRNAs in patients with ulcerative colitis. NCRV0000000030 20848167 miR-499 rs3746444 G Dominant 170 uc and 403 control subjects EFO_0000729 N/A Increasing risk Ulcerative colitis rs3746444-G of miR-499 and its dysfunction is significantly associated with the increasing risk of ulcerative colitis by using case-control analysis in 170 UC and 403 control subjects. 0.4 Association study of common genetic variants in pre-microRNAs in patients with ulcerative colitis. NCRV0000003311 27492330 IFNG-AS1 rs7134599 ? Dominant 50 anonymized samples, 19 for the initial profiling experiment and 31 for the validation cohort EFO_0000729 N/A Increasing risk Ulcerative colitis rs7134599-? of IFNG-AS1 and its dysfunction is significantly associated with the increasing risk of ulcerative colitis by using case-control analysis in 50 anonymized samples, 19 for the initial profiling experiment and 31 for the validation cohort. By using the disease cell lines or tissues, the interference of IFNG-AS1 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 A long noncoding RNA signature for ulcerative colitis identifies IFNG-AS1 as an enhancer of inflammation. NCRV0000001835 27718165 MIR196A2 rs11614913 T N/a 207 ulcerative colitis patients and 298 matched healthy controls EFO_0000729 N/A No significance for risk Ulcerative colitis rs11614913-T of MIR196A2 and its dysfunction is not significantly associated with ulcerative colitis by using case-control analysis in 207 ulcerative colitis patients and 298 matched healthy controls. 0.4 Polymorphisms in MIR122, MIR196A2, and MIR124A Genes are Associated with Clinical Phenotypes in Inflammatory Bowel Diseases. NCRV0000003327 27718165 MIR122 rs17669 C N/a 207 ulcerative colitis patients, and 298 matched healthy controls EFO_0000729 N/A No significance for risk Ulcerative colitis rs17669-C of MIR122 and its dysfunction is not significantly associated with ulcerative colitis by using case-control analysis in 207 ulcerative colitis patients, and 298 matched healthy controls. 0.4 Polymorphisms in MIR122, MIR196A2, and MIR124A Genes are Associated with Clinical Phenotypes in Inflammatory Bowel Diseases. NCRV0000003106 27718165 MIR146A rs2910164 G N/a 207 ulcerative colitis patients and 298 matched healthy controls EFO_0000729 N/A No significance for risk Ulcerative colitis rs2910164-G of MIR146A and its dysfunction is not significantly associated with ulcerative colitis by using case-control analysis in 207 ulcerative colitis patients and 298 matched healthy controls. 0.4 Polymorphisms in MIR122, MIR196A2, and MIR124A Genes are Associated with Clinical Phenotypes in Inflammatory Bowel Diseases. NCRV0000000030 27718165 MIR499 rs3746444 G N/a 207 ulcerative colitis patients, and 298 matched healthy controls EFO_0000729 N/A No significance for risk Ulcerative colitis rs3746444-G of MIR499 and its dysfunction is not significantly associated with ulcerative colitis by using case-control analysis in 207 ulcerative colitis patients, and 298 matched healthy controls. 0.4 Polymorphisms in MIR122, MIR196A2, and MIR124A Genes are Associated with Clinical Phenotypes in Inflammatory Bowel Diseases. NCRV0000002193 27718165 MIR124A rs531564 C N/a 207 ulcerative colitis patients and 298 matched healthy controls EFO_0000729 N/A No significance for risk Ulcerative colitis rs531564-C of MIR124A and its dysfunction is not significantly associated with ulcerative colitis by using case-control analysis in 207 ulcerative colitis patients and 298 matched healthy controls. 0.4 Polymorphisms in MIR122, MIR196A2, and MIR124A Genes are Associated with Clinical Phenotypes in Inflammatory Bowel Diseases. NCRV0000001835 28301487 MiR-196a-2 rs11614913 T Recessive 197 uc patients and 441 control EFO_0000729 N/A Decreasing risk Ulcerative colitis rs11614913-T of MiR-196a-2 and its dysfunction is significantly associated with the decreasing risk of ulcerative colitis by using case-control analysis in 197 UC patients and 441 control. By using the disease cell lines or tissues, the mutation of MiR-196a-2 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Association of miR-196a-2 and miR-499 variants with ulcerative colitis and their correlation with expression of respective miRNAs. NCRV0000000030 28301487 miR-499 rs3746444 C Recessive 197 uc patients and 441 control EFO_0000729 N/A Decreasing risk Ulcerative colitis rs3746444-C of miR-499 and its dysfunction is significantly associated with the decreasing risk of ulcerative colitis by using case-control analysis in 197 UC patients and 441 control. By using the disease cell lines or tissues, the mutation of miR-499 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Association of miR-196a-2 and miR-499 variants with ulcerative colitis and their correlation with expression of respective miRNAs. NCRV0000003119 23928854 miR-196a rs11614913 T N/a 400 vogt-koyanagi-harada syndrome and 1,685 controls all belonging to a chinese han population Orphanet_3437 N/A No significance for risk Vogt-koyanagi-harada rs11614913-T of miR-196a and its dysfunction is not significantly associated with Vogt-Koyanagi-Harada by using case-control analysis in 400 Vogt-Koyanagi-Harada syndrome and 1,685 controls all belonging to a Chinese Han population. 0.4 A functional variant of pre-miRNA-196a2 confers risk for Behcet's disease but not for Vogt-Koyanagi-Harada syndrome or AAU in ankylosing spondylitis. NCRV0000002729 25557604 miR-196a2 rs11614913 T N/a 17 cardiometabolic traits/diseases EFO_0001073 N/A Increasing risk Waist to hip ratio rs11614913-T of miR-196a2 and its dysfunction is significantly associated with the increasing risk of waist to hip ratio by using analysis of sequence variation in 17 cardiometabolic traits/diseases. 0.4 The association of common polymorphisms in miR-196a2 with waist to hip ratio and miR-1908 with serum lipid and glucose. NCRV0000003805 26113018 miRNA133-A2 rs45547937 GG N/a Blood sample from 205 patients EFO_0009167 N/A Higher warfarin dose Warfarin dosing variability rs45547937-GG of miRNA133-A2 and its dysfunction is significantly associated with the warfarin dosing variability by using analysis of sequence variation in blood sample from 205 patients. 0.4 Could MicroRNA polymorphisms influence warfarin dosing? A pharmacogenetics study on mir133 genes. NCRV0000000418 26113018 miRNA133-A2 rs13040413 A N/a Blood sample from 205 patients EFO_0009167 N/A Higher warfarin dose Warfarin dosing variability rs13040413-A of miRNA133-A2 and its dysfunction is significantly associated with the warfarin dosing variability by using analysis of sequence variation in blood sample from 205 patients. 0.4 Could MicroRNA polymorphisms influence warfarin dosing? A pharmacogenetics study on mir133 genes. NCRV0000002244 26113018 miRNA133-A2 rs6062251 T N/a Blood sample from 205 patients EFO_0009167 N/A Higher warfarin dose Warfarin dosing variability rs6062251-T of miRNA133-A2 and its dysfunction is significantly associated with the warfarin dosing variability by using analysis of sequence variation in blood sample from 205 patients. 0.4 Could MicroRNA polymorphisms influence warfarin dosing? A pharmacogenetics study on mir133 genes. NCRV0000002454 28958479 MIR137 rs1625579 T N/a 426 first-degree relatives of patients with schizophrenia or bipolar disorder EFO_0005407 N/A Increasing risk White matter fractional anisotropy and cortical surface area in individuals with familial risk for psychosis rs1625579-T of MIR137 and its dysfunction is significantly associated with the increasing risk of white matter fractional anisotropy and cortical surface area in individuals with familial risk for psychosis by using case-control analysis in 426 first-degree relatives of patients with schizophrenia or bipolar disorder. 0.4 The influence of MIR137 on white matter fractional anisotropy and cortical surface area in individuals with familial risk for psychosis. NCRV0000002537 19789318 miR-562 hsa-mir-562 Deletion - Dominant 226 sporadic wilms' tumor samples MONDO_0019004 N/A Increasing risk Kidney wilms tumor Deletion of miR-562 and its dysfunction is significantly associated with the increasing risk of kidney Wilms tumor by using analysis of sequence variation in 226 sporadic Wilms' tumor samples. By using the disease cell lines or tissues, the interference of miR-562 has been conducted to verify the impact of its dysfunction involving in cellular physiology and/or in molecular signaling pathway. 0.9 Loss of heterozygosity at 2q37 in sporadic Wilms' tumor: putative role for miR-562. NCRV0000000438 27863252 NONHSAT006319.2 rs4970966 T N/A 169,545 european ancestry individuals EFO_0007997 N/A Associate Granulocyte percentage of myeloid white cells rs4970966-T of NONHSAT006319.2 is significantly associated with the granulocyte percentage of myeloid white cells by using GWAS analysis in 169,545 european ancestry individuals(p-value = 4E-51 ;OR = 0.06472374). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002154 20139978 NONHSAT206981.1 rs198846 A N/A 14,364 japanese ancestry individuals EFO_0004526 N/A Associate Mean corpuscular volume rs198846-A of NONHSAT206981.1 is significantly associated with the mean corpuscular volume by using GWAS analysis in 14,364 japanese ancestry individuals(p-value = 2E-6 ;OR = 0.679). 0.4 Genome-wide association study of hematological and biochemical traits in a Japanese population. NCRV0000000736 29059683 NONHSAT193973.1 rs1053338 G N/A 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls EFO_0000305 N/A Associate Breast cancer rs1053338-G of NONHSAT193973.1 is significantly associated with the breast cancer by using GWAS analysis in 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls(p-value = 5E-11 ;OR = 1.05). 0.4 Association analysis identifies 65 new breast cancer risk loci. NCRV0000002928 26831199 NONHSAT101850.2 rs11960179 A N/A 133,413 european ancestry individuals; 42,166 european ancestry individuals//up to 16,471 african ancestry individuals//up to 42,296 asian ancestry individuals EFO_0003884 creatinine Associate Glomerular filtration rate (creatinine) rs11960179-A of NONHSAT101850.2 is significantly associated with the glomerular filtration rate (creatinine) by using GWAS analysis in 133,413 european ancestry individuals; 42,166 european ancestry individuals//up to 16,471 african ancestry individuals//up to 42,296 asian ancestry individuals(p-value = 2E-7 ;OR = 0.0069). 0.4 Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function. NCRV0000000213 26105758 NONHSAT182110.1 rs7428 ? N/A 4,919 latin american individuals EFO_0007665 N/A Associate Ear protrusion rs7428-? of NONHSAT182110.1 is significantly associated with the ear protrusion by using GWAS analysis in 4,919 latin american individuals(p-value = 8E-7 ;OR = ?). 0.4 A genome-wide association study identifies multiple loci for variation in human ear morphology. NCRV0000001857 24324551 NONHSAT148967.1 rs1776421 ? N/A 580 brazilian ancestry individuals EFO_0005529 N/A Associate Pr interval in tripanosoma cruzi seropositivity rs1776421-? of NONHSAT148967.1 is significantly associated with the pr interval in tripanosoma cruzi seropositivity by using GWAS analysis in 580 brazilian ancestry individuals(p-value = 6E-6 ;OR = ?). 0.4 Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects. NCRV0000003634 28476931 NONHSAT067101.2 rs281377 C N/A 509 pima indian ancestry individuals EFO_0001073 N/A Associate Resting metabolic rate rs281377-C of NONHSAT067101.2 is significantly associated with the resting metabolic rate by using GWAS analysis in 509 pima indian ancestry individuals(p-value = 7E-6 ;OR = 56.516937). 0.4 A Genome-Wide Association Study Using a Custom Genotyping Array Identifies Variants in GPR158 Associated With Reduced Energy Expenditure in American Indians. NCRV0000002035 27863252 NONHSAT200257.1 rs7679673 A N/A 169,822 european ancestry individuals EFO_0007987 N/A Associate Granulocyte count rs7679673-A of NONHSAT200257.1 is significantly associated with the granulocyte count by using GWAS analysis in 169,822 european ancestry individuals(p-value = 1E-10 ;OR = 0.02369403). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003932 27863252 NONHSAT200257.1 rs7679673 A N/A 169,219 european ancestry individuals EFO_0007988 N/A Associate Myeloid white cell count rs7679673-A of NONHSAT200257.1 is significantly associated with the myeloid white cell count by using GWAS analysis in 169,219 european ancestry individuals(p-value = 3E-10 ;OR = 0.0233218). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001237 28240269 NONHSAT205644.1 rs7713972 C N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008093 N/A Associate Blood protein levels rs7713972-C of NONHSAT205644.1 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 5E-14 ;OR = 0.4319). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. NCRV0000000338 25673412 NONHSAT186577.1 rs6755502 T N/A up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women EFO_0005093 N/A Associate Hip circumference rs6755502-T of NONHSAT186577.1 is significantly associated with the hip circumference by using GWAS analysis in up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women(p-value = 2E-14 ;OR = 0.0498). 0.4 New genetic loci link adipose and insulin biology to body fat distribution. NCRV0000002506 20385826 NONHSAT060783.2 rs2230199 ? N/A 979 cases//1,709 controls; 868 european ancestry cases//410 european ancestry controls//4,921 cases//3,824 controls EFO_0001365 N/A Associate Age-related macular degeneration rs2230199-? of NONHSAT060783.2 is significantly associated with the age-related macular degeneration by using GWAS analysis in 979 cases//1,709 controls; 868 european ancestry cases//410 european ancestry controls//4,921 cases//3,824 controls(p-value = 2E-8 ;OR = ?). 0.4 Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC). NCRV0000003157 20935629 NONHSAT213292.1 rs1055144 T N/A up to 77,167 european ancestry individuals; up to 113,636 european ancestry individuals EFO_0004343 N/A Associate Waist-hip ratio rs1055144-T of NONHSAT213292.1 is significantly associated with the waist-hip ratio by using GWAS analysis in up to 77,167 european ancestry individuals; up to 113,636 european ancestry individuals(p-value = 1E-24 ;OR = 0.04). 0.4 Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. NCRV0000001307 21507922 NONHSAT164135.1 rs1727307 ? N/A 115 african ancestry hiv-negative individuals EFO_0004309 N/A Associate Platelet count rs1727307-? of NONHSAT164135.1 is significantly associated with the platelet count by using GWAS analysis in 115 african ancestry hiv-negative individuals(p-value = 3E-6 ;OR = ?). 0.4 Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women. NCRV0000002979 26634245 NONHSAT047580.2 rs7170068 A N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs7170068-A of NONHSAT047580.2 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 9E-10 ;OR = 0.068). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000003928 23453885 NONHSAT172650.1 rs12325410 T N/A 6,990 european ancestry bipolar disorder cases//9,227 european ancestry major depressive disorder cases//9,379 european ancestry schizophrenia cases//161 european ancestry autism spectrum disorder cases//4,788 european ancestry autism spectrum disorder trio cases//840 european ancestry attention deficit-hyperactivity disorder cases//1,947 european ancestry attention defcit-hyperactivity disorder trio cases//27,888 european ancestry controls EFO_0000677 N/A Associate Autism spectrum disorder//attention deficit-hyperactivity disorder//bipolar disorder//major depressive disorder//and schizophrenia (combined) rs12325410-T of NONHSAT172650.1 is significantly associated with the autism spectrum disorder//attention deficit-hyperactivity disorder//bipolar disorder//major depressive disorder//and schizophrenia (combined) by using GWAS analysis in 6,990 european ancestry bipolar disorder cases//9,227 european ancestry major depressive disorder cases//9,379 european ancestry schizophrenia cases//161 european ancestry autism spectrum disorder cases//4,788 european ancestry autism spectrum disorder trio cases//840 european ancestry attention deficit-hyperactivity disorder cases//1,947 european ancestry attention defcit-hyperactivity disorder trio cases//27,888 european ancestry controls(p-value = 1E-6 ;OR = 1.09). 0.4 Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. NCRV0000001164 27021288 NONHSAT010234.2 rs10910623 A N/A 750 european ancestry child cases EFO_0003888 N/A Associate Oppositional defiant disorder dimensions in attention-deficit hyperactivity disorder rs10910623-A of NONHSAT010234.2 is significantly associated with the oppositional defiant disorder dimensions in attention-deficit hyperactivity disorder by using GWAS analysis in 750 european ancestry child cases(p-value = 3E-7 ;OR = 0.7022). 0.4 Genome-wide analyses of aggressiveness in attention-deficit hyperactivity disorder. NCRV0000000862 28739976 NONHSAT159899.1 rs11222084 T N/A 150,134 european ancestry individuals; 87,359 european ancestry individuals//140,886 european and unknown ancestry individuals EFO_0005763 N/A Associate Pulse pressure rs11222084-T of NONHSAT159899.1 is significantly associated with the pulse pressure by using GWAS analysis in 150,134 european ancestry individuals; 87,359 european ancestry individuals//140,886 european and unknown ancestry individuals(p-value = 2E-12 ;OR = 0.353). 0.4 Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.LID - HYPERTENSIONAHA.117.09438 [pii]LID - 10.1161/HYPERTENSIONAHA.117.09438 [doi]AB - Elevated blood pressure NCRV0000002318 27927641 NONHSAT173433.1 rs12445022 ? N/A 178 european ancestry cases//434 european ancestry controls//81 hispanic/latin american cases//177 hispanic/latin american controls//511 cases//6,336 controls EFO_1001999 N/A Associate Systemic juvenile idiopathic arthritis rs12445022-? of NONHSAT173433.1 is significantly associated with the systemic juvenile idiopathic arthritis by using GWAS analysis in 178 european ancestry cases//434 european ancestry controls//81 hispanic/latin american cases//177 hispanic/latin american controls//511 cases//6,336 controls(p-value = 2E-6 ;OR = 1.5). 0.4 Genetic architecture distinguishes systemic juvenile idiopathic arthritis from other forms of juvenile idiopathic arthritis: clinical and therapeutic implications. NCRV0000003737 27863252 NONHSAT180160.1 rs74956615 A N/A 164,339 european ancestry individuals EFO_0007985 N/A Associate Plateletcrit rs74956615-A of NONHSAT180160.1 is significantly associated with the plateletcrit by using GWAS analysis in 164,339 european ancestry individuals(p-value = 2E-15 ;OR = 0.06337232). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001891 27863252 NONHSAT183488.1 rs715 C N/A 172,378 european ancestry individuals EFO_0007991 N/A Associate Eosinophil percentage of white cells rs715-C of NONHSAT183488.1 is significantly associated with the eosinophil percentage of white cells by using GWAS analysis in 172,378 european ancestry individuals(p-value = 4E-10 ;OR = 0.02420978). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002345 28195142 NONHSAT036407.2 rs368187 G N/A 2,637 european ancestry cases//364 non-array typed//familial imputed icelandic ancestry cases//134,811 european ancestry controls//152,739 non-array typed//familial imputed icelandic ancestry controls. EFO_0002892 N/A Associate Thyroid cancer rs368187-G of NONHSAT036407.2 is significantly associated with the thyroid cancer by using GWAS analysis in 2,637 european ancestry cases//364 non-array typed//familial imputed icelandic ancestry cases//134,811 european ancestry controls//152,739 non-array typed//familial imputed icelandic ancestry controls.(p-value = 5E-23 ;OR = 1.39). 0.4 A genome-wide association study yields five novel thyroid cancer risk loci. NCRV0000001631 24097068 NONHSAT185468.1 rs2030746 T N/A 94,595 european ancestry individuals; 93,982 european ancestry individuals EFO_0000319 N/A Associate Ldl cholesterol rs2030746-T of NONHSAT185468.1 is significantly associated with the ldl cholesterol by using GWAS analysis in 94,595 european ancestry individuals; 93,982 european ancestry individuals(p-value = 9E-9 ;OR = 0.021). 0.4 Discovery and refinement of loci associated with lipid levels. NCRV0000003742 27863252 NONHSAT183488.1 rs715 C N/A 170,536 european ancestry individuals EFO_0007996 N/A Associate Eosinophil percentage of granulocytes rs715-C of NONHSAT183488.1 is significantly associated with the eosinophil percentage of granulocytes by using GWAS analysis in 170,536 european ancestry individuals(p-value = 3E-9 ;OR = 0.0230721). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001763 28991256 NONHSAT178124.1 rs28735056 G N/A 7,699 chinese ancestry cases//35,476 european ancestry cases//18,327 chinese ancestry controls//46,839 european ancestry controls; 4,384 chinese ancestry cases//5,770 chinese ancestry controls EFO_0000692 N/A Associate Schizophrenia rs28735056-G of NONHSAT178124.1 is significantly associated with the schizophrenia by using GWAS analysis in 7,699 chinese ancestry cases//35,476 european ancestry cases//18,327 chinese ancestry controls//46,839 european ancestry controls; 4,384 chinese ancestry cases//5,770 chinese ancestry controls(p-value = 5E-10 ;OR = 1.0626993). 0.4 Genome-wide association analysis identifies 30 new susceptibility loci for schizophrenia. NCRV0000003563 18311140 NONHSAT089433.2 rs6441961 A N/A 767 european ancestry cases//1,422 european ancestry controls; 1,643 european ancestry cases//3,406 european ancestry controls EFO_0001060 N/A Associate Celiac disease rs6441961-A of NONHSAT089433.2 is significantly associated with the celiac disease by using GWAS analysis in 767 european ancestry cases//1,422 european ancestry controls; 1,643 european ancestry cases//3,406 european ancestry controls(p-value = 3E-7 ;OR = 1.21). 0.4 Newly identified genetic risk variants for celiac disease related to the immune response. NCRV0000003398 25751625 NONHSAT202081.1 rs2736108 C N/A 15,748 european ancestry cases//18,084 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls EFO_0000305 N/A Associate Breast cancer rs2736108-C of NONHSAT202081.1 is significantly associated with the breast cancer by using GWAS analysis in 15,748 european ancestry cases//18,084 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls(p-value = 2E-9 ;OR = 1.0638298). 0.4 Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer. NCRV0000002129 26926045 NONHSAT207771.1 rs6901317 ? N/A 6,357 latin american individuals EFO_0007823 N/A Associate Beard thickness rs6901317-? of NONHSAT207771.1 is significantly associated with the beard thickness by using GWAS analysis in 6,357 latin american individuals(p-value = 4E-8 ;OR = ?). 0.4 A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features. NCRV0000001603 25811787 NONHSAT198713.1 rs11729931 C N/A up to 15,007 european ancestry male individuals//up to 16,943 european ancestry female individuals EFO_0004531 N/A Associate Urate levels (bmi interaction) rs11729931-C of NONHSAT198713.1 is significantly associated with the urate levels (bmi interaction) by using GWAS analysis in up to 15,007 european ancestry male individuals//up to 16,943 european ancestry female individuals(p-value = 3E-6 ;OR = 0.014849857). 0.4 Modulation of genetic associations with serum urate levels by body-mass-index in humans. NCRV0000001338 28346442 NONHSAT075637.2 rs711830 A N/A 22,406 european ancestry cases//40,941 european ancestry controls EFO_0001075 N/A Associate Epithelial ovarian cancer rs711830-A of NONHSAT075637.2 is significantly associated with the epithelial ovarian cancer by using GWAS analysis in 22,406 european ancestry cases//40,941 european ancestry controls(p-value = 3E-15 ;OR = 1.12). 0.4 Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer. NCRV0000003054 25918132 NONHSAT079144.2 rs7344105 G N/A 74 european ancestry cases//824 european ancestry controls EFO_0000270 N/A Associate Diisocyanate-induced asthma rs7344105-G of NONHSAT079144.2 is significantly associated with the diisocyanate-induced asthma by using GWAS analysis in 74 european ancestry cases//824 european ancestry controls(p-value = 2E-6 ;OR = 15.21). 0.4 Genome-Wide Association Study Identifies Novel Loci Associated With Diisocyanate-Induced Occupational Asthma. NCRV0000001850 27863252 NONHSAT080588.2 rs79067846 C N/A 164,433 european ancestry individuals EFO_0007984 N/A Associate Platelet distribution width rs79067846-C of NONHSAT080588.2 is significantly associated with the platelet distribution width by using GWAS analysis in 164,433 european ancestry individuals(p-value = 5E-54 ;OR = 0.2318122). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000199 21348951 NONHSAT108603.2 rs10947055 ? N/A 851 old order amish individuals EFO_0002503 N/A Associate Cardiac hypertrophy rs10947055-? of NONHSAT108603.2 is significantly associated with the cardiac hypertrophy by using GWAS analysis in 851 old order amish individuals(p-value = 2E-7 ;OR = ?). 0.4 Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality. NCRV0000001029 27126917 NONHSAT154788.1 rs57941271 A N/A 941 european ancestry individuals EFO_0008568 N/A Associate Night sleep phenotypes rs57941271-A of NONHSAT154788.1 is significantly associated with the night sleep phenotypes by using GWAS analysis in 941 european ancestry individuals(p-value = 8E-7 ;OR = 0.07764). 0.4 Genome-wide association analysis of actigraphic sleep phenotypes in the LIFE Adult Study. NCRV0000000851 25282103 NONHSAT176424.1 rs2378870 T N/A 253,288 european ancestry individuals; 80,067 european ancestry individuals EFO_0004339 N/A Associate Height rs2378870-T of NONHSAT176424.1 is significantly associated with the height by using GWAS analysis in 253,288 european ancestry individuals; 80,067 european ancestry individuals(p-value = 4E-10 ;OR = 0.02). 0.4 Defining the role of common variation in the genomic and biological architecture of adult human height. NCRV0000002408 28928442 NONHSAT196671.1 rs13092917 ? N/A 52,487 european ancestry cases//22,017 european ancestry controls EFO_0008408 N/A Associate Strep throat rs13092917-? of NONHSAT196671.1 is significantly associated with the strep throat by using GWAS analysis in 52,487 european ancestry cases//22,017 european ancestry controls(p-value = 6E-6 ;OR = 0.029). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. NCRV0000003252 27126917 NONHSAT113712.2 rs6919854 T N/A 874 european ancestry individuals EFO_0007828 N/A Associate Daytime sleep phenotypes rs6919854-T of NONHSAT113712.2 is significantly associated with the daytime sleep phenotypes by using GWAS analysis in 874 european ancestry individuals(p-value = 7E-6 ;OR = 0.07633). 0.4 Genome-wide association analysis of actigraphic sleep phenotypes in the LIFE Adult Study. NCRV0000000345 26634245 NONHSAT174831.1 rs17607 A N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs17607-A of NONHSAT174831.1 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 4E-6 ;OR = 0.11). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000003210 28498854 NONHSAT215731.1 rs10096908 ? N/A up to 31,155 african individuals; up to 4,187 african individuals//up to 14,016 korean ancestry individuals//up to 23,914 european ancestry individuals//up to 12,278 hispanic individuals EFO_0005763 N/A Associate Blood pressure traits (multi-trait analysis) rs10096908-? of NONHSAT215731.1 is significantly associated with the blood pressure traits (multi-trait analysis) by using GWAS analysis in up to 31,155 african individuals; up to 4,187 african individuals//up to 14,016 korean ancestry individuals//up to 23,914 european ancestry individuals//up to 12,278 hispanic individuals(p-value = 2E-6 ;OR = ?). 0.4 Single-trait and multi-trait genome-wide association analyses identify novel loci for blood pressure in African-ancestry populations. NCRV0000001188 23738518 NONHSAT213941.1 rs7802263 ? N/A 6,649 european ancestry children and adolescents EFO_0005301 N/A Associate Reading and spelling rs7802263-? of NONHSAT213941.1 is significantly associated with the reading and spelling by using GWAS analysis in 6,649 european ancestry children and adolescents(p-value = 8E-6 ;OR = ?). 0.4 A genome-wide association study for reading and language abilities in two population cohorts. NCRV0000003599 23251661 NONHSAT173412.1 rs1867485 G N/A 815 hispanic children from 263 families EFO_0005115 N/A Associate Obesity-related traits rs1867485-G of NONHSAT173412.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 3E-6 ;OR = 0.04). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. NCRV0000000656 29071344 NONHSAT182955.1 rs115182184 G N/A 3,041 african american individuals//1,618 european ancestry individuals; 1,612 african american individuals//1,551 european ancestry individuals EFO_0003829 N/A Associate Major depression and alcohol dependence rs115182184-G of NONHSAT182955.1 is significantly associated with the major depression and alcohol dependence by using GWAS analysis in 3,041 african american individuals//1,618 european ancestry individuals; 1,612 african american individuals//1,551 european ancestry individuals(p-value = 8E-6 ;OR = 0.952). 0.4 Genetic Risk Variants Associated With Comorbid Alcohol Dependence and Major Depression. NCRV0000003259 23527680 NONHSAT103631.2 rs10463833 A N/A 1,851 individuals; 155 individuals EFO_0003888 N/A Associate Attention deficit hyperactivity disorder (hyperactivity-impulsivity symptoms) rs10463833-A of NONHSAT103631.2 is significantly associated with the attention deficit hyperactivity disorder (hyperactivity-impulsivity symptoms) by using GWAS analysis in 1,851 individuals; 155 individuals(p-value = 5E-6 ;OR = ?). 0.4 Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits. NCRV0000002174 28424481 NONHSAT181220.1 rs181132 T N/A 115 japanese ancestry female cases//419 japanese ancestry male and female controls EFO_0002689 N/A Associate Obstetric antiphospholipid syndrome rs181132-T of NONHSAT181220.1 is significantly associated with the obstetric antiphospholipid syndrome by using GWAS analysis in 115 japanese ancestry female cases//419 japanese ancestry male and female controls(p-value = 6E-6 ;OR = 2.631579). 0.4 The first genome-wide association study identifying new susceptibility loci for obstetric antiphospholipid syndrome. NCRV0000001277 28588231 NONHSAT192261.1 rs117086479 G N/A 7,550 european ancestry individuals; 8,790 european ancestry individuals//2,030 african american individuals EFO_0000400 N/A Associate 1,5-anhydroglucitol levels rs117086479-G of NONHSAT192261.1 is significantly associated with the 1,5-anhydroglucitol levels by using GWAS analysis in 7,550 european ancestry individuals; 8,790 european ancestry individuals//2,030 african american individuals(p-value = 6E-13 ;OR = 7.21). 0.4 Genome-wide association study of 1,5-anhydroglucitol identifies novel genetic loci linked to glucose metabolism. NCRV0000000381 26831199 NONHSAT071625.2 rs13538 A N/A 118,448 european ancestry individuals; 36,433 european ancestry individuals EFO_0003884 N/A Associate Glomerular filtration rate in non diabetics (creatinine) rs13538 -A of NONHSAT071625.2 is significantly associated with the glomerular filtration rate in non diabetics (creatinine) by using GWAS analysis in 118,448 european ancestry individuals; 36,433 european ancestry individuals(p-value = 3E-16 ;OR = 0.0092). 0.4 Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function. NCRV0000000696 29228715 NONHSAT166616.1 rs511674 ? N/A 978 austrian ancestry cases//4,294 european ancestry controls EFO_0005842 N/A Associate Colorectal cancer rs511674-? of NONHSAT166616.1 is significantly associated with the colorectal cancer by using GWAS analysis in 978 austrian ancestry cases//4,294 european ancestry controls(p-value = 6E-6 ;OR = 2.155). 0.4 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas. NCRV0000003271 28371326 NONHSAT179793.1 rs7412 T N/A 862 han chinese ancestry cases//880 han chinese ancestry controls; 656 han chinese ancestry cases//933 han chinese ancestry controls EFO_0000319 N/A Associate Ldl cholesterol levels rs7412-T of NONHSAT179793.1 is significantly associated with the ldl cholesterol levels by using GWAS analysis in 862 han chinese ancestry cases//880 han chinese ancestry controls; 656 han chinese ancestry cases//933 han chinese ancestry controls(p-value = 7E-15 ;OR = 0.313). 0.4 Susceptibility loci for metabolic syndrome and metabolic components identified in Han Chinese: a multi-stage genome-wide association study. NCRV0000001961 26634245 NONHSAT018018.2 rs4076943 T N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs4076943-T of NONHSAT018018.2 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 2E-7 ;OR = 0.094). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000001987 27863252 NONHSAT197523.1 rs6782228 C N/A 169,822 european ancestry individuals EFO_0007987 N/A Associate Granulocyte count rs6782228-C of NONHSAT197523.1 is significantly associated with the granulocyte count by using GWAS analysis in 169,822 european ancestry individuals(p-value = 3E-14 ;OR = 0.03102483). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002092 21835309 NONHSAT168818.1 rs4900109 G N/A 2,121 european ancestry individuals; 499 european ancestry adolescent twins and siblings//73 european ancestry adult individuals EFO_0004731 N/A Associate Iris characteristics rs4900109-G of NONHSAT168818.1 is significantly associated with the iris characteristics by using GWAS analysis in 2,121 european ancestry individuals; 499 european ancestry adolescent twins and siblings//73 european ancestry adult individuals(p-value = 8E-21 ;OR = 0.17). 0.4 GWAS findings for human iris patterns: associations with variants in genes that influence normal neuronal pattern development. NCRV0000000975 29059683 NONHSAT205698.1 rs145106188 CT N/A 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls EFO_0000305 N/A Associate Breast cancer rs145106188-CT of NONHSAT205698.1 is significantly associated with the breast cancer by using GWAS analysis in 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls(p-value = 3E-7 ;OR = 0.0343). 0.4 Association analysis identifies 65 new breast cancer risk loci. NCRV0000003352 27863252 NONHSAT197523.1 rs6782228 C N/A 169,219 european ancestry individuals EFO_0007988 N/A Associate Myeloid white cell count rs6782228-C of NONHSAT197523.1 is significantly associated with the myeloid white cell count by using GWAS analysis in 169,219 european ancestry individuals(p-value = 2E-22 ;OR = 0.03977305). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003897 28240269 NONHSAT061043.2 rs5498 G N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008164 N/A Associate Blood protein levels rs5498-G of NONHSAT061043.2 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 2E-32 ;OR = 0.5107). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. NCRV0000001735 21051598 NONHSAT108716.2 rs9262632 G N/A 516 european cases//1,196 european controls//341 african american cases//892 african american controls//117 hispanic cases//560 hispanic controls EFO_0000180 N/A Associate Hiv-1 control rs9262632-G of NONHSAT108716.2 is significantly associated with the hiv-1 control by using GWAS analysis in 516 european cases//1,196 european controls//341 african american cases//892 african american controls//117 hispanic cases//560 hispanic controls(p-value = 1E-8 ;OR = 3.1). 0.4 The major genetic determinants of HIV-1 control affect HLA class I peptide presentation. NCRV0000000489 29228715 NONHSAT108540.2 rs1362126 ? N/A 978 austrian ancestry colorectal cancer cases//636 austrian ancestry advanced colorectal adenoma cases//4,294 european ancestry controls EFO_0005842 N/A Associate Colorectal cancer rs1362126-? of NONHSAT108540.2 is significantly associated with the colorectal cancer by using GWAS analysis in 978 austrian ancestry colorectal cancer cases//636 austrian ancestry advanced colorectal adenoma cases//4,294 european ancestry controls(p-value = 3E-7 ;OR = 1.3908206). 0.4 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas. NCRV0000002290 24068947 NONHSAT174496.1 rs2962462 ? N/A 728 european ancestry individuals with reading disability EFO_0003889 N/A Associate Relative hand skill in reading disability rs2962462-? of NONHSAT174496.1 is significantly associated with the relative hand skill in reading disability by using GWAS analysis in 728 european ancestry individuals with reading disability(p-value = 2E-6 ;OR = 0.29). 0.4 Common variants in left/right asymmetry genes and pathways are associated with relative hand skill. NCRV0000003680 28430825 NONHSAT181960.1 rs18122 G N/A 4,783 african american men//15,601 african american women; 981 african american men//1,730 african american women//104,079 european ancestry men//116,742 european ancestry women EFO_0007788 N/A Associate Waist-to-hip ratio adjusted for body mass index rs18122-G of NONHSAT181960.1 is significantly associated with the waist-to-hip ratio adjusted for body mass index by using GWAS analysis in 4,783 african american men//15,601 african american women; 981 african american men//1,730 african american women//104,079 european ancestry men//116,742 european ancestry women(p-value = 5E-6 ;OR = 0.061). 0.4 Discovery and fine-mapping of adiposity loci using high density imputation of genome-wide association studies in individuals of African ancestry: African Ancestry Anthropometry Genetics Consortium. NCRV0000001755 25199915 NONHSAT158874.1 rs11023737 ? N/A 6,036 european ancestry cases//3,757 european ancestry controls EFO_0004300 N/A Associate Longevity (90 years and older) rs11023737-? of NONHSAT158874.1 is significantly associated with the longevity (90 years and older) by using GWAS analysis in 6,036 european ancestry cases//3,757 european ancestry controls(p-value = 4E-6 ;OR = 1.2048193). 0.4 GWAS of longevity in CHARGE consortium confirms APOE and FOXO3 candidacy. NCRV0000000825 26620591 NONHSAT193984.1 rs9866261 G N/A 352 european ancestry cases//537 european ancestry controls; 828 european ancestry cases//1,378 european ancestry controls EFO_0000270 N/A Associate Asthma rs9866261-G of NONHSAT193984.1 is significantly associated with the asthma by using GWAS analysis in 352 european ancestry cases//537 european ancestry controls; 828 european ancestry cases//1,378 european ancestry controls(p-value = 1E-7 ;OR = 1.45). 0.4 Genome-wide association study in Spanish identifies ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), as a novel asthma susceptibility gene. NCRV0000002280 28928442 NONHSAT157712.1 rs1556659 ? N/A 60,098 european ancestry cases//113,323 european ancestry controls EFO_0007924 N/A Associate Tonsillectomy rs1556659-? of NONHSAT157712.1 is significantly associated with the tonsillectomy by using GWAS analysis in 60,098 european ancestry cases//113,323 european ancestry controls(p-value = 1E-6 ;OR = 0.0406). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. NCRV0000000918 22993228 NONHSAT210405.1 rs10046257 A N/A 4,683 european ancestry individuals EFO_0004994 N/A Associate Disc degeneration (lumbar) rs10046257-A of NONHSAT210405.1 is significantly associated with the disc degeneration (lumbar) by using GWAS analysis in 4,683 european ancestry individuals(p-value = 3E-7 ;OR = 0.19). 0.4 Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects. NCRV0000003576 26528553 NONHSAT116095.2 rs3010562 ? N/A 127 hutterite individuals EFO_0007753 N/A Associate Gut microbiome composition (summer and winter) rs3010562-? of NONHSAT116095.2 is significantly associated with the gut microbiome composition (summer and winter) by using GWAS analysis in 127 hutterite individuals(p-value = 3E-7 ;OR = 0.6652993). 0.4 Genome-Wide Association Studies of the Human Gut Microbiota. NCRV0000003480 25673413 NONHSAT006361.2 rs4357530 G N/A up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals EFO_0001073 N/A Associate Body mass index rs4357530-G of NONHSAT006361.2 is significantly associated with the body mass index by using GWAS analysis in up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals(p-value = 2E-6 ;OR = 0.016). 0.4 Genetic studies of body mass index yield new insights for obesity biology. NCRV0000000310 22544366 NONHSAT157147.1 rs10824026 A N/A 6,707 european ancestry cases//52,426 european ancestry controls; 5,381 european ancestry casses//10,030 european ancestry controls EFO_0000275 N/A Associate Atrial fibrillation rs10824026-A of NONHSAT157147.1 is significantly associated with the atrial fibrillation by using GWAS analysis in 6,707 european ancestry cases//52,426 european ancestry controls; 5,381 european ancestry casses//10,030 european ancestry controls(p-value = 4E-9 ;OR = 1.15). 0.4 Meta-analysis identifies six new susceptibility loci for atrial fibrillation. NCRV0000001469 24816252 NONHSAT183488.1 rs715 T N/A 7,824 european ancestry individuals EFO_0005664 N/A Associate Blood metabolite levels rs715-T of NONHSAT183488.1 is significantly associated with the blood metabolite levels by using GWAS analysis in 7,824 european ancestry individuals(p-value = 1E-24 ;OR = 0.045). 0.4 An atlas of genetic influences on human blood metabolites. NCRV0000002022 28073927 NONHSAT218402.1 rs117598310 T N/A 20,353 european ancestry individuals//2,131 erasmus rucphen (founder/genetic isolate) individuals; 7,333 asian ancestry individuals EFO_0004190 N/A Associate Optic cup area rs117598310-T of NONHSAT218402.1 is significantly associated with the optic cup area by using GWAS analysis in 20,353 european ancestry individuals//2,131 erasmus rucphen (founder/genetic isolate) individuals; 7,333 asian ancestry individuals(p-value = 1E-8 ;OR = 0.031). 0.4 New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics. NCRV0000001082 22561531 NONHSAT182279.1 rs9807989 ? N/A 933 european ancestry cases//3,346 european ancestry controls; 231 european ancestry cases//1,345 european ancestry controls EFO_0000270 N/A Associate Asthma rs9807989-? of NONHSAT182279.1 is significantly associated with the asthma by using GWAS analysis in 933 european ancestry cases//3,346 european ancestry controls; 231 european ancestry cases//1,345 european ancestry controls(p-value = 6E-8 ;OR = 1.33). 0.4 Genome-wide association study to identify genetic determinants of severe asthma. NCRV0000003307 27989323 NONHSAT197521.1 rs2712431 C N/A 8,293 finnish ancestry individuals EFO_0005140 N/A Associate Monocyte chemoattractant protein-1 levels rs2712431-C of NONHSAT197521.1 is significantly associated with the monocyte chemoattractant protein-1 levels by using GWAS analysis in 8,293 finnish ancestry individuals(p-value = 5E-6 ;OR = 0.0787). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. NCRV0000001037 22952603 NONHSAT130451.2 rs12554707 ? N/A 1 american indian ancestry individual//18 african american individuals//10 asian ancestry individuals//325 european ancestry individuals//17 hispanic individuals//10 individuals GO_0042493 N/A Associate Response to amphetamines rs12554707-? of NONHSAT130451.2 is significantly associated with the response to amphetamines by using GWAS analysis in 1 american indian ancestry individual//18 african american individuals//10 asian ancestry individuals//325 european ancestry individuals//17 hispanic individuals//10 individuals(p-value = 2E-6 ;OR = ?). 0.4 Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13). NCRV0000001534 25673412 NONHSAT192305.1 rs1053593 T N/A up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women EFO_0005093 adjusted for BMI Associate Hip circumference adjusted for bmi rs1053593-T of NONHSAT192305.1 is significantly associated with the hip circumference adjusted for bmi by using GWAS analysis in up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women(p-value = 2E-9 ;OR = 0.0285). 0.4 New genetic loci link adipose and insulin biology to body fat distribution. NCRV0000000228 22837378 NONHSAT156172.1 rs181654 ? N/A up to 3,368 european ancestry cases//up to 29,507 european ancestry controls; 331 european ancestry cases//2,550 european ancestry controls EFO_0003892 N/A Associate Airflow obstruction rs181654-? of NONHSAT156172.1 is significantly associated with the airflow obstruction by using GWAS analysis in up to 3,368 european ancestry cases//up to 29,507 european ancestry controls; 331 european ancestry cases//2,550 european ancestry controls(p-value = 1E-7 ;OR = 1.23). 0.4 Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction. NCRV0000002098 27989323 NONHSAT119236.2 rs181972774 G N/A 8,243 finnish ancestry individuals EFO_0005140 N/A Associate Macrophage inflammatory protein 1b levels rs181972774-G of NONHSAT119236.2 is significantly associated with the macrophage inflammatory protein 1b levels by using GWAS analysis in 8,243 finnish ancestry individuals(p-value = 5E-6 ;OR = 0.5285). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. NCRV0000000890 26528553 NONHSAT010718.2 rs6413860 ? N/A 91 hutterite individuals EFO_0007753 N/A Associate Gut microbiome composition (summer) rs6413860-? of NONHSAT010718.2 is significantly associated with the gut microbiome composition (summer) by using GWAS analysis in 91 hutterite individuals(p-value = 2E-6 ;OR = 0.7517874). 0.4 Genome-Wide Association Studies of the Human Gut Microbiota. NCRV0000000146 28073927 NONHSAT190055.1 rs6107845 A N/A 21,768 european ancestry individuals//2,131 erasmus rucphen (founder/genetic isolate) individuals; 8,168 asian ancestry individuals EFO_0006939 N/A Associate Vertical cup-disc ratio rs6107845-A of NONHSAT190055.1 is significantly associated with the vertical cup-disc ratio by using GWAS analysis in 21,768 european ancestry individuals//2,131 erasmus rucphen (founder/genetic isolate) individuals; 8,168 asian ancestry individuals(p-value = 3E-17 ;OR = 0.009). 0.4 New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics. NCRV0000003223 20351715 NONHSAT170667.1 rs12912251 ? N/A 4,387 european ancestry bipolar cases//1,695 european ancestry major depressive disorder cases//7,970 european ancestry controls EFO_0000677 N/A Associate Bipolar disorder or major depressive disorder (combined) rs12912251-? of NONHSAT170667.1 is significantly associated with the bipolar disorder or major depressive disorder (combined) by using GWAS analysis in 4,387 european ancestry bipolar cases//1,695 european ancestry major depressive disorder cases//7,970 european ancestry controls(p-value = 1E-6 ;OR = ?). 0.4 Meta-analysis of genome-wide association data of bipolar disorder and major depressive disorder. NCRV0000002620 22412388 NONHSAT143201.2 rs11574514 A N/A 737 ashkenazi jewish cases//2,257 ashkenazi jewish controls; 971 ashkenazi jewish cases//2,124 ashkenazi jewish controls EFO_0000384 N/A Associate Crohn's disease rs11574514-A of NONHSAT143201.2 is significantly associated with the crohn's disease by using GWAS analysis in 737 ashkenazi jewish cases//2,257 ashkenazi jewish controls; 971 ashkenazi jewish cases//2,124 ashkenazi jewish controls(p-value = 2E-7 ;OR = 1.44). 0.4 A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci. NCRV0000001221 21378988 NONHSAT186057.1 rs7586970 ? N/A 8,424 european ancestry cases//7,268 european ancestry controls//6,996 south asian ancestry cases//7,794 south asian ancestry controls; 18,049 european ancestry cases//16,357 european ancestry controls//3,359 south asian ancestry cases//2,828 south asian ancestry controls EFO_0001645 N/A Associate Coronary heart disease rs7586970-? of NONHSAT186057.1 is significantly associated with the coronary heart disease by using GWAS analysis in 8,424 european ancestry cases//7,268 european ancestry controls//6,996 south asian ancestry cases//7,794 south asian ancestry controls; 18,049 european ancestry cases//16,357 european ancestry controls//3,359 south asian ancestry cases//2,828 south asian ancestry controls(p-value = 9E-6 ;OR = ?). 0.4 A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease. NCRV0000003397 27863252 NONHSAT197523.1 rs6782228 C N/A 171,748 european ancestry individuals EFO_0007993 N/A Associate Lymphocyte percentage of white cells rs6782228-C of NONHSAT197523.1 is significantly associated with the lymphocyte percentage of white cells by using GWAS analysis in 171,748 european ancestry individuals(p-value = 3E-23 ;OR = 0.04021163). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000067 28334899 NONHSAT160878.1 rs2401 T N/A 22,526 east asian ancestry individuals; 37,842 east asian ancestry individuals EFO_0000319 N/A Associate Ldl cholesterol levels rs2401-T of NONHSAT160878.1 is significantly associated with the ldl cholesterol levels by using GWAS analysis in 22,526 east asian ancestry individuals; 37,842 east asian ancestry individuals(p-value = 5E-8 ;OR = 0.079). 0.4 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels. NCRV0000001126 28424481 NONHSAT187030.1 rs79154414 T N/A 115 japanese ancestry female cases//419 japanese ancestry male and female controls EFO_0002689 N/A Associate Obstetric antiphospholipid syndrome rs79154414-T of NONHSAT187030.1 is significantly associated with the obstetric antiphospholipid syndrome by using GWAS analysis in 115 japanese ancestry female cases//419 japanese ancestry male and female controls(p-value = 5E-8 ;OR = 6.2). 0.4 The first genome-wide association study identifying new susceptibility loci for obstetric antiphospholipid syndrome. NCRV0000001383 27989323 NONHSAT170320.1 rs146748084 T N/A 3,494 finnish ancestry individuals EFO_0005140 N/A Associate Macrophage migration inhibitory factor levels rs146748084-T of NONHSAT170320.1 is significantly associated with the macrophage migration inhibitory factor levels by using GWAS analysis in 3,494 finnish ancestry individuals(p-value = 8E-6 ;OR = 0.5404). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. NCRV0000002644 27863252 NONHSAT219494.1 rs11446839 TG N/A 164,339 european ancestry individuals EFO_0007985 N/A Associate Plateletcrit rs11446839-TG of NONHSAT219494.1 is significantly associated with the plateletcrit by using GWAS analysis in 164,339 european ancestry individuals(p-value = 3E-16 ;OR = 0.02990532). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001453 26377243 NONHSAT208336.1 rs926657 T N/A 2,895 african american individuals EFO_0000319 N/A Associate Lipoprotein (a) levels rs926657-T of NONHSAT208336.1 is significantly associated with the lipoprotein (a) levels by using GWAS analysis in 2,895 african american individuals(p-value = 5E-11 ;OR = 0.14). 0.4 Genome- and exome-wide association study of serum lipoprotein (a) in the Jackson Heart Study. NCRV0000002760 26192919 NONHSAT191891.1 rs8127691 ? N/A 12,882 european ancestry cases//21,770 european ancestry controls; 25,273 european ancestry cases//26,715 european ancestry controls//548 iranian ancestry cases//342 iranian ancestry control//1,423 indian ancestry cases//990 indian ancestry controls//2,824 east asian ancestry cases//3,719 east asian ancestry controls EFO_0003767 N/A Associate Inflammatory bowel disease rs8127691-? of NONHSAT191891.1 is significantly associated with the inflammatory bowel disease by using GWAS analysis in 12,882 european ancestry cases//21,770 european ancestry controls; 25,273 european ancestry cases//26,715 european ancestry controls//548 iranian ancestry cases//342 iranian ancestry control//1,423 indian ancestry cases//990 indian ancestry controls//2,824 east asian ancestry cases//3,719 east asian ancestry controls(p-value = 9E-30 ;OR = ?). 0.4 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. NCRV0000000127 21801394 NONHSAT108734.2 rs3094188 A N/A 424 european ancestry cases//1,881 european ancestry controls EFO_0004775 N/A Associate Drug-induced stevens-johnson syndrome or toxic epidermal necrolysis (sjs/ten) rs3094188-A of NONHSAT108734.2 is significantly associated with the drug-induced stevens-johnson syndrome or toxic epidermal necrolysis (sjs/ten) by using GWAS analysis in 424 european ancestry cases//1,881 european ancestry controls(p-value = 3E-8 ;OR = 1.59). 0.4 Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe. NCRV0000000376 25608926 NONHSAT165052.1 rs7299099 T N/A 2,332 european ancestry cases and 5,233 european ancestry controls; 764 european ancestry cases and 2,256 european ancestry controls EFO_0004192 N/A Associate Alopecia areata rs7299099-T of NONHSAT165052.1 is significantly associated with the alopecia areata by using GWAS analysis in 2,332 european ancestry cases and 5,233 european ancestry controls; 764 european ancestry cases and 2,256 european ancestry controls(p-value = 5E-6 ;OR = 1.19065). 0.4 Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci. NCRV0000002973 23041239 NONHSAT198931.1 rs6843082 G N/A 12,389 european ancestry cases//62,004 european ancestry controls; 1,322 pakistani ancestry cases//1,143 pakistani ancestry controls//12,025 european ancestry cases//27,940 european ancestry controls EFO_0000712 N/A Associate Stroke (ischemic) rs6843082-G of NONHSAT198931.1 is significantly associated with the stroke (ischemic) by using GWAS analysis in 12,389 european ancestry cases//62,004 european ancestry controls; 1,322 pakistani ancestry cases//1,143 pakistani ancestry controls//12,025 european ancestry cases//27,940 european ancestry controls(p-value = 2E-7 ;OR = 1.11). 0.4 Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE collaboration): a meta-analysis of genome-wide association studies. NCRV0000001760 27863252 NONHSAT210156.1 rs9392465 A N/A 171,529 european ancestry individuals EFO_0005192 N/A Associate Red cell distribution width rs9392465-A of NONHSAT210156.1 is significantly associated with the red cell distribution width by using GWAS analysis in 171,529 european ancestry individuals(p-value = 1E-13 ;OR = 0.02830543). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002463 28416818 NONHSAT170847.1 rs2921421 G N/A 15,979 european ancestry cases//102,776 european ancestry controls. EFO_0000275 N/A Associate Atrial fibrillation rs2921421-G of NONHSAT170847.1 is significantly associated with the atrial fibrillation by using GWAS analysis in 15,979 european ancestry cases//102,776 european ancestry controls.(p-value = 3E-8 ;OR = 1.72). 0.4 Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation. NCRV0000003166 28135244 NONHSAT152568.1 rs1057239 A N/A 140,886 european ancestry individuals; 190,318 european ancestry individuals EFO_0006336 N/A Associate Diastolic blood pressure rs1057239-A of NONHSAT152568.1 is significantly associated with the diastolic blood pressure by using GWAS analysis in 140,886 european ancestry individuals; 190,318 european ancestry individuals(p-value = 4E-6 ;OR = 0.1253). 0.4 Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk. NCRV0000001105 24163127 NONHSAT180304.1 rs8102137 C N/A up to 2,305 european ancestry cases//up to 3,901 european ancestry controls; up to 13,298 cases//up to 54,535 controls EFO_0000292 N/A Associate Bladder cancer rs8102137-C of NONHSAT180304.1 is significantly associated with the bladder cancer by using GWAS analysis in up to 2,305 european ancestry cases//up to 3,901 european ancestry controls; up to 13,298 cases//up to 54,535 controls(p-value = 1E-11 ;OR = 1.13). 0.4 Genome-wide association study identifies multiple loci associated with bladder cancer risk. NCRV0000001578 27863252 NONHSAT189066.1 rs259981 A N/A 171,748 european ancestry individuals EFO_0007993 N/A Associate Lymphocyte percentage of white cells rs259981-A of NONHSAT189066.1 is significantly associated with the lymphocyte percentage of white cells by using GWAS analysis in 171,748 european ancestry individuals(p-value = 1E-9 ;OR = 0.02282645). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002126 23382691 NONHSAT173412.1 rs300032 G N/A 2,247 european ancestry individuals EFO_0002690 N/A Associate Igg glycosylation rs300032-G of NONHSAT173412.1 is significantly associated with the igg glycosylation by using GWAS analysis in 2,247 european ancestry individuals(p-value = 3E-7 ;OR = 0.2336). 0.4 Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. NCRV0000002896 25158072 NONHSAT070857.2 rs35881094 G N/A 1,310 ashkenazi jewish//south african afrikaner ancestry//and other european ancestry ocd cases//834 ashkenazi jewish//french canadian and other european ancestry tourette's syndrome cases//579 ashkenazi jewish//south african afrikaner ancestry//french canadian and other european ancestry ocd and tourette's syndrome cases//4,975 european ancestry controls//338 ashkenazi jewish controls//196 french canadian controls//158 south african afrikaner ancestry controls//290 european ancestry ocd parent-child trios EFO_0004895 N/A Associate Tourette's syndrome or obsessive-compulsive disorder rs35881094-G of NONHSAT070857.2 is significantly associated with the tourette's syndrome or obsessive-compulsive disorder by using GWAS analysis in 1,310 ashkenazi jewish//south african afrikaner ancestry//and other european ancestry ocd cases//834 ashkenazi jewish//french canadian and other european ancestry tourette's syndrome cases//579 ashkenazi jewish//south african afrikaner ancestry//french canadian and other european ancestry ocd and tourette's syndrome cases//4,975 european ancestry controls//338 ashkenazi jewish controls//196 french canadian controls//158 south african afrikaner ancestry controls//290 european ancestry ocd parent-child trios(p-value = 7E-6 ;OR = 1.16). 0.4 Cross-disorder genome-wide analyses suggest a complex genetic relationship between Tourette's syndrome and OCD. NCRV0000000129 21364930 NONHSAT082027.2 rs12483205 ? N/A 191 european ancestry individuals; 31 individuals EFO_0000180 N/A Associate Hiv-1 replication rs12483205-? of NONHSAT082027.2 is significantly associated with the hiv-1 replication by using GWAS analysis in 191 european ancestry individuals; 31 individuals(p-value = 5E-6 ;OR = ?). 0.4 Genome-wide association study identifies single nucleotide polymorphism in DYRK1A associated with replication of HIV-1 in monocyte-derived macrophages. NCRV0000000900 27005778 NONHSAT220473.1 rs140348140 TA N/A 2,118 erasmus rucphen (founder/genetic isolate)//22,807 european ancestry individuals EFO_0004725 N/A Associate Metabolite levels (small molecules and protein measures) rs140348140-TA of NONHSAT220473.1 is significantly associated with the metabolite levels (small molecules and protein measures) by using GWAS analysis in 2,118 erasmus rucphen (founder/genetic isolate)//22,807 european ancestry individuals(p-value = 4E-40 ;OR = 0.33). 0.4 Genome-wide study for circulating metabolites identifies 62 loci and reveals novel systemic effects of LPA. NCRV0000001168 25673413 NONHSAT180659.1 rs11672550 T N/A up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals EFO_0001073 N/A Associate Body mass index rs11672550-T of NONHSAT180659.1 is significantly associated with the body mass index by using GWAS analysis in up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals(p-value = 1E-7 ;OR = 0.021). 0.4 Genetic studies of body mass index yield new insights for obesity biology. NCRV0000003098 26007630 NONHSAT176810.1 rs57968458 A N/A 2,194 european ancestry cases//222,555 european ancestry controls; 586 european ancestry cases//2,111 european ancestry controls EFO_0001378 N/A Associate Multiple myeloma rs57968458-A of NONHSAT176810.1 is significantly associated with the multiple myeloma by using GWAS analysis in 2,194 european ancestry cases//222,555 european ancestry controls; 586 european ancestry cases//2,111 european ancestry controls(p-value = 6E-11 ;OR = 0.36). 0.4 Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma. NCRV0000002881 27863252 NONHSAT208858.1 rs6917586 A N/A 170,384 european ancestry individuals EFO_0009390 N/A Associate Sum neutrophil eosinophil counts rs6917586-A of NONHSAT208858.1 is significantly associated with the sum neutrophil eosinophil counts by using GWAS analysis in 170,384 european ancestry individuals(p-value = 2E-11 ;OR = 0.02533813). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000226 28039263 NONHSAT070377.2 rs12615153 T N/A 511 european ancestry testicular cancer survivor individuals; 238 children EFO_0006951 N/A Associate Cisplatin-induced ototoxicity rs12615153-T of NONHSAT070377.2 is significantly associated with the cisplatin-induced ototoxicity by using GWAS analysis in 511 european ancestry testicular cancer survivor individuals; 238 children(p-value = 6E-6 ;OR = 4.529). 0.4 Variants in WFS1 and Other Mendelian Deafness Genes Are Associated with Cisplatin-Associated Ototoxicity. NCRV0000003974 25866641 NONHSAT205863.1 rs157411 ? N/A 171 european ancestry cases EFO_1000657 N/A Associate Survival in rectal cancer rs157411-? of NONHSAT205863.1 is significantly associated with the survival in rectal cancer by using GWAS analysis in 171 european ancestry cases(p-value = 2E-6 ;OR = 2.89). 0.4 A genome wide association study on Newfoundland colorectal cancer patients' survival outcomes. NCRV0000001099 27863252 NONHSAT186800.1 rs11678584 T N/A 170,690 european ancestry individuals EFO_0007986 N/A Associate Reticulocyte count rs11678584-T of NONHSAT186800.1 is significantly associated with the reticulocyte count by using GWAS analysis in 170,690 european ancestry individuals(p-value = 1E-10 ;OR = 0.03437443). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003506 25217961 NONHSAT223344.1 rs2807031 C N/A 34,379 european ancestry cases//33,164 european ancestry controls//5,327 african ancestry cases//5,136 african ancestry controls//2,563 japanese ancestry cases//4,391 japanese ancestry controls//1,034 latino cases//1,046 latino controls EFO_0001663 N/A Associate Prostate cancer rs2807031-C of NONHSAT223344.1 is significantly associated with the prostate cancer by using GWAS analysis in 34,379 european ancestry cases//33,164 european ancestry controls//5,327 african ancestry cases//5,136 african ancestry controls//2,563 japanese ancestry cases//4,391 japanese ancestry controls//1,034 latino cases//1,046 latino controls(p-value = 3E-11 ;OR = 1.07). 0.4 A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer. NCRV0000000666 23259602 NONHSAT175754.1 rs3204270 ? N/A 1,483 european ancestry comparatively younger individuals//5,960 european ancestry comparatively older individuals EFO_0003819 N/A Associate Dental caries rs3204270-? of NONHSAT175754.1 is significantly associated with the dental caries by using GWAS analysis in 1,483 european ancestry comparatively younger individuals//5,960 european ancestry comparatively older individuals(p-value = 5E-6 ;OR = ?). 0.4 Genome-wide association scan of dental caries in the permanent dentition. NCRV0000000683 26030696 NONHSAT066419.2 rs7937 T N/A 5,385 european ancestry chronic obstructive pulmonary disease cases//901 african american chronic obstructive pulmonary disease cases//3,613 european ancestry controls//2,132 african american controls EFO_0000341 N/A Associate Emphysema imaging phenotypes rs7937-T of NONHSAT066419.2 is significantly associated with the emphysema imaging phenotypes by using GWAS analysis in 5,385 european ancestry chronic obstructive pulmonary disease cases//901 african american chronic obstructive pulmonary disease cases//3,613 european ancestry controls//2,132 african american controls(p-value = 2E-6 ;OR = 0.08). 0.4 A Genome-Wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes. NCRV0000001785 27863252 NONHSAT206735.1 rs2326837 G N/A 171,643 european ancestry individuals EFO_0004587 N/A Associate Lymphocyte counts rs2326837-G of NONHSAT206735.1 is significantly associated with the lymphocyte counts by using GWAS analysis in 171,643 european ancestry individuals(p-value = 1E-11 ;OR = 0.02535951). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001714 21102463 NONHSAT184707.1 rs10181042 T N/A 6,333 european ancestry cases//15,056 european ancestry controls; 15,694 european ancestry cases//14,026 european ancestry controls//414 european ancestry trios EFO_0000384 N/A Associate Crohn's disease rs10181042-T of NONHSAT184707.1 is significantly associated with the crohn's disease by using GWAS analysis in 6,333 european ancestry cases//15,056 european ancestry controls; 15,694 european ancestry cases//14,026 european ancestry controls//414 european ancestry trios(p-value = 7E-9 ;OR = 1.14). 0.4 Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. NCRV0000003692 28928442 NONHSAT149567.1 rs199656906 ? N/A 16,711 european ancestry cases//118,152 european ancestry controls EFO_0008401 N/A Associate Shingles rs199656906-? of NONHSAT149567.1 is significantly associated with the shingles by using GWAS analysis in 16,711 european ancestry cases//118,152 european ancestry controls(p-value = 9E-6 ;OR = 0.1907). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. NCRV0000001926 28743860 NONHSAT183032.1 rs6726821 G N/A 8,327 european ancestry individuals//2,087 individuals EFO_0003923 N/A Associate Bone mineral density (paediatric//total body less head) rs6726821-G of NONHSAT183032.1 is significantly associated with the bone mineral density (paediatric//total body less head) by using GWAS analysis in 8,327 european ancestry individuals//2,087 individuals(p-value = 3E-8 ;OR = 0.0769). 0.4 Bivariate genome-wide association meta-analysis of pediatric musculoskeletal traits reveals pleiotropic effects at the SREBF1/TOM1L2 locus. NCRV0000003466 27989323 NONHSAT178947.1 rs138987090 G N/A 8,186 finnish ancestry individuals EFO_0005140 N/A Associate Trail levels rs138987090-G of NONHSAT178947.1 is significantly associated with the trail levels by using GWAS analysis in 8,186 finnish ancestry individuals(p-value = 5E-23 ;OR = 0.7497). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. NCRV0000003876 22837378 NONHSAT188244.1 rs7607316 A N/A up to 3,368 european ancestry cases//up to 29,507 european ancestry controls; 331 european ancestry cases//2,550 european ancestry controls EFO_0003892 N/A Associate Airflow obstruction rs7607316-A of NONHSAT188244.1 is significantly associated with the airflow obstruction by using GWAS analysis in up to 3,368 european ancestry cases//up to 29,507 european ancestry controls; 331 european ancestry cases//2,550 european ancestry controls(p-value = 3E-6 ;OR = 1.29). 0.4 Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction. NCRV0000001177 18821565 NONHSAT180624.1 rs260461 ? N/A 930 european ancestry trios EFO_0003888 N/A Associate Attention deficit hyperactivity disorder rs260461-? of NONHSAT180624.1 is significantly associated with the attention deficit hyperactivity disorder by using GWAS analysis in 930 european ancestry trios(p-value = 8E-6 ;OR = ?). 0.4 Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations. NCRV0000000620 28448500 NONHSAT160117.1 rs1330 T N/A 2,518 african american women//85,730 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//54,792 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men EFO_0007789 joint analysis main effects and physical activity interaction Associate Waist circumference adjusted for bmi in active individuals rs1330-T of NONHSAT160117.1 is significantly associated with the waist circumference adjusted for bmi in active individuals by using GWAS analysis in 2,518 african american women//85,730 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//54,792 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men(p-value = 3E-7 ;OR = 0.0234). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. NCRV0000001199 22158540 NONHSAT221561.1 rs10974531 A N/A 981 han chinese ancestry cases//1,991 han chinese ancestry controls; 2,603 han chinese ancestry cases//2,877 han chinese ancestry controls EFO_0002618 N/A Associate Pancreatic cancer rs10974531-A of NONHSAT221561.1 is significantly associated with the pancreatic cancer by using GWAS analysis in 981 han chinese ancestry cases//1,991 han chinese ancestry controls; 2,603 han chinese ancestry cases//2,877 han chinese ancestry controls(p-value = 5E-6 ;OR = 1.24). 0.4 Genome-wide association study identifies five loci associated with susceptibility to pancreatic cancer in Chinese populations. NCRV0000001902 28441456 NONHSAT002070.2 rs79719407 G N/A 2,187 european ancestry individuals EFO_0007841 N/A Associate Facial morphology (factor 16) rs79719407-G of NONHSAT002070.2 is significantly associated with the facial morphology (factor 16) by using GWAS analysis in 2,187 european ancestry individuals(p-value = 4E-6 ;OR = 0.4738). 0.4 Genome-wide association study of facial morphology reveals novel associations with FREM1 and PARK2. NCRV0000000519 26634245 NONHSAT027620.2 rs181609621 C N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs181609621-C of NONHSAT027620.2 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 3E-6 ;OR = 2.19). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000002972 23408906 NONHSAT143860.2 rs3813582 T N/A up to 14,459 european ancestry females//up to 10,936 european ancestry males//up to 433 old order amish females//up to 592 old order amish males EFO_1000627 N/A Associate Thyroid hormone levels rs3813582-T of NONHSAT143860.2 is significantly associated with the thyroid hormone levels by using GWAS analysis in up to 14,459 european ancestry females//up to 10,936 european ancestry males//up to 433 old order amish females//up to 592 old order amish males(p-value = 6E-17 ;OR = 0.115). 0.4 A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function. NCRV0000002178 28498854 NONHSAT163678.1 rs113866309 C N/A up to 31,155 african individuals; up to 4,187 african individuals//up to 14,016 korean ancestry individuals//up to 23,914 european ancestry individuals//up to 12,278 hispanic individuals EFO_0005763 N/A Associate Pulse pressure rs113866309-C of NONHSAT163678.1 is significantly associated with the pulse pressure by using GWAS analysis in up to 31,155 african individuals; up to 4,187 african individuals//up to 14,016 korean ancestry individuals//up to 23,914 european ancestry individuals//up to 12,278 hispanic individuals(p-value = 8E-9 ;OR = 2.2172). 0.4 Single-trait and multi-trait genome-wide association analyses identify novel loci for blood pressure in African-ancestry populations. NCRV0000001749 26014426 NONHSAT160186.1 rs12294104 ? N/A up to 2913 european ancestry individuals HP_0012243 N/A Associate Sex hormone levels rs12294104-? of NONHSAT160186.1 is significantly associated with the sex hormone levels by using GWAS analysis in up to 2913 european ancestry individuals(p-value = 3E-7 ;OR = ?). 0.4 Genome-wide association study with 1000 genomes imputation identifies signals for nine sex hormone-related phenotypes. NCRV0000000317 22754043 NONHSAT197114.1 rs11706236 ? N/A 2,402 european ancestry individuals from 1,470 families EFO_0004698 caffeine-induced Associate Insomnia (caffeine-induced) rs11706236-? of NONHSAT197114.1 is significantly associated with the insomnia (caffeine-induced) by using GWAS analysis in 2,402 european ancestry individuals from 1,470 families(p-value = 4E-6 ;OR = 1.59). 0.4 A genome-wide association study of caffeine-related sleep disturbance: confirmation of a role for a common variant in the adenosine receptor. NCRV0000000306 23251661 NONHSAT189474.1 rs1320561 G N/A 815 hispanic children from 263 families EFO_0005000 N/A Associate Obesity-related traits rs1320561-G of NONHSAT189474.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 1E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. NCRV0000003477 25811787 NONHSAT068203.2 rs7249211 G N/A up to 5,529 european ancestry male individuals//up to 9,753 european ancestry female individuals EFO_0004531 N/A Associate Urate levels in lean individuals rs7249211-G of NONHSAT068203.2 is significantly associated with the urate levels in lean individuals by using GWAS analysis in up to 5,529 european ancestry male individuals//up to 9,753 european ancestry female individuals(p-value = 6E-6 ;OR = 0.104). 0.4 Modulation of genetic associations with serum urate levels by body-mass-index in humans. NCRV0000003232 28892062 NONHSAT018519.2 rs6265 T N/A up to 72,390 japanese ancestry women//up to 85,894 japanese ancestry men; up to 10,048 japanese ancestry women//up to 5,098 japanese ancestry men//up to 181,999 european ancestry women//up to 140,155 european ancestry controls EFO_0001073 N/A Associate Body mass index rs6265-T of NONHSAT018519.2 is significantly associated with the body mass index by using GWAS analysis in up to 72,390 japanese ancestry women//up to 85,894 japanese ancestry men; up to 10,048 japanese ancestry women//up to 5,098 japanese ancestry men//up to 181,999 european ancestry women//up to 140,155 european ancestry controls(p-value = 2E-51 ;OR = 0.04). 0.4 Genome-wide association study identifies 112 new loci for body mass index in the Japanese population. NCRV0000003461 26634245 NONHSAT157337.1 rs143988467 G N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs143988467-G of NONHSAT157337.1 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 3E-6 ;OR = 0.049). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000002199 28334935 NONHSAT210353.1 rs113507773 G N/A 12,580 hispanic/latino individuals EFO_0006332 N/A Associate Iron status biomarkers (iron levels) rs113507773-G of NONHSAT210353.1 is significantly associated with the iron status biomarkers (iron levels) by using GWAS analysis in 12,580 hispanic/latino individuals(p-value = 4E-8 ;OR = 0.199). 0.4 Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation? NCRV0000001518 28334935 NONHSAT210353.1 rs113507773 G N/A 12,589 hispanic/latino individuals EFO_0006333 N/A Associate Iron status biomarkers (transferrin saturation) rs113507773-G of NONHSAT210353.1 is significantly associated with the iron status biomarkers (transferrin saturation) by using GWAS analysis in 12,589 hispanic/latino individuals(p-value = 2E-12 ;OR = 0.157). 0.4 Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation? NCRV0000001381 26634245 NONHSAT206431.1 rs187769864 A N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs187769864-A of NONHSAT206431.1 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 2E-6 ;OR = 0.613). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000003539 27515689 NONHSAT056843.2 rs62091368 A N/A 1,245 european ancestry individuals EFO_0001663 radiotherapy Associate Response to radiotherapy in prostate cancer (toxicity//decreased urine stream) rs62091368-A of NONHSAT056843.2 is significantly associated with the response to radiotherapy in prostate cancer (toxicity//decreased urine stream) by using GWAS analysis in 1,245 european ancestry individuals(p-value = 4E-6 ;OR = 4.36). 0.4 Meta-analysis of Genome Wide Association Studies Identifies Genetic Markers of Late Toxicity Following Radiotherapy for Prostate Cancer. NCRV0000001944 23251661 NONHSAT076962.2 rs359980 G N/A 815 hispanic children from 263 families EFO_0004818 N/A Associate Obesity-related traits rs359980-G of NONHSAT076962.2 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 7E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. NCRV0000000004 27863252 NONHSAT004977.2 rs663045 C N/A 170,702 european ancestry individuals EFO_0004833 N/A Associate Neutrophil count rs663045-C of NONHSAT004977.2 is significantly associated with the neutrophil count by using GWAS analysis in 170,702 european ancestry individuals(p-value = 7E-11 ;OR = 0.02342686). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000108 21804548 NONHSAT207123.1 rs7775228 A N/A 1,532 japanese ancestry cases//3,304 japanese ancestry controls; 5,639 japanese ancestry cases//24,608 japanese ancestry controls EFO_0000270 N/A Associate Asthma rs7775228-A of NONHSAT207123.1 is significantly associated with the asthma by using GWAS analysis in 1,532 japanese ancestry cases//3,304 japanese ancestry controls; 5,639 japanese ancestry cases//24,608 japanese ancestry controls(p-value = 5E-15 ;OR = 1.17). 0.4 Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population. NCRV0000002436 26691988 NONHSAT219619.1 rs10781182 ? N/A 16,144 european ancestry cases//17,832 european ancestry controls; 473 asian ancestry cases//1,099 asian ancestry controls//52 african ancestry cases//361 african ancestry cases//254 other non-european ancestry cases//694 other non-european ancestry controls EFO_0001365 N/A Associate Advanced age-related macular degeneration rs10781182-? of NONHSAT219619.1 is significantly associated with the advanced age-related macular degeneration by using GWAS analysis in 16,144 european ancestry cases//17,832 european ancestry controls; 473 asian ancestry cases//1,099 asian ancestry controls//52 african ancestry cases//361 african ancestry cases//254 other non-european ancestry cases//694 other non-european ancestry controls(p-value = 3E-9 ;OR = 1.11). 0.4 A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants. NCRV0000003314 24529757 NONHSAT220546.1 rs776776 ? N/A 250 han chinese ancestry cases//250 han chinese ancestry controls EFO_0001357 N/A Associate Amyotrophic lateral sclerosis (sporadic) rs776776-? of NONHSAT220546.1 is significantly associated with the amyotrophic lateral sclerosis (sporadic) by using GWAS analysis in 250 han chinese ancestry cases//250 han chinese ancestry controls(p-value = 2E-6 ;OR = ?). 0.4 Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations. NCRV0000003264 21750679 NONHSAT184315.1 rs13021401 T N/A 564 european ancestry cases//1,776 european ancestry controls; 1,682 european ancestry cases//3,926 european ancestry controls EFO_0000717 N/A Associate Systemic sclerosis rs13021401-T of NONHSAT184315.1 is significantly associated with the systemic sclerosis by using GWAS analysis in 564 european ancestry cases//1,776 european ancestry controls; 1,682 european ancestry cases//3,926 european ancestry controls(p-value = 3E-6 ;OR = 1.21). 0.4 Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis. NCRV0000003479 25990418 NONHSAT159410.1 rs3824999 C N/A 7,577 european ancestry cases//9,979 european ancestry controls EFO_0005842 N/A Associate Colorectal cancer rs3824999-C of NONHSAT159410.1 is significantly associated with the colorectal cancer by using GWAS analysis in 7,577 european ancestry cases//9,979 european ancestry controls(p-value = 8E-11 ;OR = 1.15). 0.4 A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer. NCRV0000002676 26634245 NONHSAT047580.2 rs8040868 T N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs8040868-T of NONHSAT047580.2 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 1E-13 ;OR = 0.064). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000000841 24493630 NONHSAT159347.1 rs614367 ? N/A 3,523 european ancestry young female cases//2,702 european ancestry young female controls; 3,470 european ancestry young female cases//5,475 european ancestry young female controls EFO_0000305 N/A Associate Breast cancer (early onset) rs614367-? of NONHSAT159347.1 is significantly associated with the breast cancer (early onset) by using GWAS analysis in 3,523 european ancestry young female cases//2,702 european ancestry young female controls; 3,470 european ancestry young female cases//5,475 european ancestry young female controls(p-value = 1E-8 ;OR = 1.34). 0.4 A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age. NCRV0000001946 28025584 NONHSAT024855.2 rs11219122 C N/A 1,229 cases//7,526 controls Orphanet_85443 N/A Associate Immunoglobulin light chain (al) amyloidosis rs11219122-C of NONHSAT024855.2 is significantly associated with the immunoglobulin light chain (al) amyloidosis by using GWAS analysis in 1,229 cases//7,526 controls(p-value = 2E-6 ;OR = 1.25). 0.4 Genome-wide association study of immunoglobulin light chain amyloidosis in three patient cohorts: comparison with myeloma. NCRV0000000500 28892062 NONHSAT169755.1 rs709400 G N/A up to 72,390 japanese ancestry women//up to 85,894 japanese ancestry men; up to 10,048 japanese ancestry women//up to 5,098 japanese ancestry men//up to 181,999 european ancestry women//up to 140,155 european ancestry controls EFO_0001073 N/A Associate Body mass index rs709400-G of NONHSAT169755.1 is significantly associated with the body mass index by using GWAS analysis in up to 72,390 japanese ancestry women//up to 85,894 japanese ancestry men; up to 10,048 japanese ancestry women//up to 5,098 japanese ancestry men//up to 181,999 european ancestry women//up to 140,155 european ancestry controls(p-value = 2E-8 ;OR = 0.015). 0.4 Genome-wide association study identifies 112 new loci for body mass index in the Japanese population. NCRV0000001356 27863252 NONHSAT220313.1 rs605642 A N/A 172,378 european ancestry individuals EFO_0007991 N/A Associate Eosinophil percentage of white cells rs605642-A of NONHSAT220313.1 is significantly associated with the eosinophil percentage of white cells by using GWAS analysis in 172,378 european ancestry individuals(p-value = 6E-15 ;OR = 0.02839948). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001084 26198764 NONHSAT191551.1 rs67900830 A N/A 1,505 ashkenazi jewish founder cases//2,553 ashkenazi jewish founder controls EFO_0000692 N/A Associate Schizophrenia rs67900830-A of NONHSAT191551.1 is significantly associated with the schizophrenia by using GWAS analysis in 1,505 ashkenazi jewish founder cases//2,553 ashkenazi jewish founder controls(p-value = 4E-6 ;OR = 1.4705882). 0.4 Genome-wide association study of schizophrenia in Ashkenazi Jews. NCRV0000003220 27863252 NONHSAT220313.1 rs605642 A N/A 170,672 european ancestry individuals EFO_0007994 N/A Associate Neutrophil percentage of granulocytes rs605642-A of NONHSAT220313.1 is significantly associated with the neutrophil percentage of granulocytes by using GWAS analysis in 170,672 european ancestry individuals(p-value = 1E-12 ;OR = 0.02606256). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003910 27863252 NONHSAT220313.1 rs605642 A N/A 170,536 european ancestry individuals EFO_0007996 N/A Associate Eosinophil percentage of granulocytes rs605642-A of NONHSAT220313.1 is significantly associated with the eosinophil percentage of granulocytes by using GWAS analysis in 170,536 european ancestry individuals(p-value = 1E-14 ;OR = 0.02827073). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003331 24554482 NONHSAT188344.1 rs502716 ? N/A 40 european ancestry cases//37 african american cases//13 hispanic cases//85 european ancestry controls//49 african american controls//30 hispanic controls EFO_0000180 N/A Associate Response to anti-retroviral therapy (ddi/d4t) in hiv-1 infection (grade 1 peripheral neuropathy) rs502716-? of NONHSAT188344.1 is significantly associated with the response to anti-retroviral therapy (ddi/d4t) in hiv-1 infection (grade 1 peripheral neuropathy) by using GWAS analysis in 40 european ancestry cases//37 african american cases//13 hispanic cases//85 european ancestry controls//49 african american controls//30 hispanic controls(p-value = 4E-6 ;OR = 14.0). 0.4 Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384. NCRV0000001376 27989323 NONHSAT178889.1 rs78434584 G N/A 3,494 finnish ancestry individuals EFO_0005140 N/A Associate Macrophage migration inhibitory factor levels rs78434584-G of NONHSAT178889.1 is significantly associated with the macrophage migration inhibitory factor levels by using GWAS analysis in 3,494 finnish ancestry individuals(p-value = 6E-7 ;OR = 0.5077). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. NCRV0000001313 27863252 NONHSAT207135.1 rs2856816 C N/A 172,378 european ancestry individuals EFO_0007991 N/A Associate Eosinophil percentage of white cells rs2856816-C of NONHSAT207135.1 is significantly associated with the eosinophil percentage of white cells by using GWAS analysis in 172,378 european ancestry individuals(p-value = 2E-17 ;OR = 0.0523189). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003677 21123754 NONHSAT179794.1 rs439401 ? N/A 96 european ancestry alzheimer disease cases//176 european ancestry individuals with mild cognitive impairment//102 european ancestry controls EFO_0000249 N/A Associate Alzheimer's disease biomarkers rs439401-? of NONHSAT179794.1 is significantly associated with the alzheimer's disease biomarkers by using GWAS analysis in 96 european ancestry alzheimer disease cases//176 european ancestry individuals with mild cognitive impairment//102 european ancestry controls(p-value = 1E-6 ;OR = ?). 0.4 Genome-wide association study of CSF biomarkers Abeta1-42, t-tau, and p-tau181p in the ADNI cohort. NCRV0000003080 27989323 NONHSAT156589.1 rs9423654 G N/A 3,677 finnish ancestry individuals EFO_0005140 N/A Associate Interleukin-2 receptor antagonist levels rs9423654-G of NONHSAT156589.1 is significantly associated with the interleukin-2 receptor antagonist levels by using GWAS analysis in 3,677 finnish ancestry individuals(p-value = 2E-6 ;OR = 0.1357). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. NCRV0000003920 25241763 NONHSAT190055.1 rs6054374 T N/A 18,963 european ancestry individuals//2,131 erasmus rucphen individuals; 2,453 chinese ancestry individuals//2,026 indian ancestry individuals//2,305 malay ancestry individuals EFO_0004832 N/A Associate Vertical cup-disc ratio rs6054374-T of NONHSAT190055.1 is significantly associated with the vertical cup-disc ratio by using GWAS analysis in 18,963 european ancestry individuals//2,131 erasmus rucphen individuals; 2,453 chinese ancestry individuals//2,026 indian ancestry individuals//2,305 malay ancestry individuals(p-value = 2E-7 ;OR = 0.007). 0.4 Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process. NCRV0000000021 28067908 NONHSAT203343.1 rs6863411 ? N/A 25,042 european and unknown ancestry cases//34,915 european and unknown ancestry controls EFO_0003767 N/A Associate Inflammatory bowel disease rs6863411-? of NONHSAT203343.1 is significantly associated with the inflammatory bowel disease by using GWAS analysis in 25,042 european and unknown ancestry cases//34,915 european and unknown ancestry controls(p-value = 5E-10 ;OR = ?). 0.4 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. NCRV0000001258 27863252 NONHSAT207135.1 rs2856816 C N/A 170,536 european ancestry individuals EFO_0007996 N/A Associate Eosinophil percentage of granulocytes rs2856816-C of NONHSAT207135.1 is significantly associated with the eosinophil percentage of granulocytes by using GWAS analysis in 170,536 european ancestry individuals(p-value = 7E-15 ;OR = 0.04810228). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000488 23251661 NONHSAT005075.2 rs333960 G N/A 815 hispanic children from 263 families EFO_0004471 N/A Associate Obesity-related traits rs333960-G of NONHSAT005075.2 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 2E-7 ;OR = 0.04). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. NCRV0000002059 28928442 NONHSAT159353.1 rs6598099 ? N/A 25,108 european ancestry cases//63,332 european ancestry controls EFO_0008402 N/A Associate Cold sores rs6598099-? of NONHSAT159353.1 is significantly associated with the cold sores by using GWAS analysis in 25,108 european ancestry cases//63,332 european ancestry controls(p-value = 6E-6 ;OR = 0.0491). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. NCRV0000001527 28247064 NONHSAT188843.1 rs2664588 T N/A 3,146 individuals EFO_0000249 N/A Associate Cerebrospinal fluid ab1-42 levels rs2664588-T of NONHSAT188843.1 is significantly associated with the cerebrospinal fluid ab1-42 levels by using GWAS analysis in 3,146 individuals(p-value = 2E-6 ;OR = 0.019). 0.4 Genome-wide association study identifies four novel loci associated with Alzheimer's endophenotypes and disease modifiers. NCRV0000002809 26634245 NONHSAT023594.2 rs149504921 C N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs149504921-C of NONHSAT023594.2 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 5E-6 ;OR = 0.097). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000000416 19820697 NONHSAT176940.1 rs17609240 G N/A 4,627 european ancestry individuals; 9,316 european ancestry individuals EFO_0004308 N/A Associate Hematological parameters rs17609240-G of NONHSAT176940.1 is significantly associated with the hematological parameters by using GWAS analysis in 4,627 european ancestry individuals; 9,316 european ancestry individuals(p-value = 9E-9 ;OR = 0.02). 0.4 A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. NCRV0000000970 27863252 NONHSAT124860.2 rs2948294 G N/A 171,529 european ancestry individuals EFO_0005192 N/A Associate Red cell distribution width rs2948294-G of NONHSAT124860.2 is significantly associated with the red cell distribution width by using GWAS analysis in 171,529 european ancestry individuals(p-value = 6E-26 ;OR = 0.03831231). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000195 25500335 NONHSAT010798.2 rs3811444 T N/A 2,633 individuals EFO_0005110 N/A Associate Red blood cell fatty acid levels rs3811444-T of NONHSAT010798.2 is significantly associated with the red blood cell fatty acid levels by using GWAS analysis in 2,633 individuals(p-value = 5E-11 ;OR = 0.127). 0.4 A genome-wide association study of saturated, mono- and polyunsaturated red blood cell fatty acids in the Framingham Heart Offspring Study. NCRV0000001317 25581431 NONHSAT185940.1 rs2072590 A N/A 4,368 european ancestry cases//9,123 european ancestry controls,; 2,462 european ancestry brca1 mutation carrier cases//12,790 european ancestry brca1 mutation carrier controls//up to 631 european ancestry brca2 mutation carrier cases//7,580 european ancestry brca2 mutation carrier controls//9,627 european ancestry serous cases//1,442 european ancestry non-serous cases//21,722 european ancestry controls Orphanet_398934 N/A Associate Epithelial ovarian cancer rs2072590-A of NONHSAT185940.1 is significantly associated with the epithelial ovarian cancer by using GWAS analysis in 4,368 european ancestry cases//9,123 european ancestry controls,; 2,462 european ancestry brca1 mutation carrier cases//12,790 european ancestry brca1 mutation carrier controls//up to 631 european ancestry brca2 mutation carrier cases//7,580 european ancestry brca2 mutation carrier controls//9,627 european ancestry serous cases//1,442 european ancestry non-serous cases//21,722 european ancestry controls(p-value = 9E-14 ;OR = 1.14). 0.4 Identification of six new susceptibility loci for invasive epithelial ovarian cancer. NCRV0000002852 27863252 NONHSAT174709.1 rs62045844 T N/A 172,433 european ancestry individuals EFO_0004526 N/A Associate Mean corpuscular volume rs62045844-T of NONHSAT174709.1 is significantly associated with the mean corpuscular volume by using GWAS analysis in 172,433 european ancestry individuals(p-value = 9E-16 ;OR = 0.06368266). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000038 27863252 NONHSAT174709.1 rs62045844 T N/A 172,332 european ancestry individuals EFO_0004527 N/A Associate Mean corpuscular hemoglobin rs62045844-T of NONHSAT174709.1 is significantly associated with the mean corpuscular hemoglobin by using GWAS analysis in 172,332 european ancestry individuals(p-value = 8E-14 ;OR = 0.05932081). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001487 27046643 NONHSAT192435.1 rs2142694 ? N/A 36,035 european ancestry individuals EFO_0004350 N/A Associate Verbal-numerical reasoning rs2142694-? of NONHSAT192435.1 is significantly associated with the verbal-numerical reasoning by using GWAS analysis in 36,035 european ancestry individuals(p-value = 7E-12 ;OR = 0.05119). 0.4 Genome-wide association study of cognitive functions and educational attainment in UK Biobank (N=112 151). NCRV0000003526 28008999 NONHSAT024857.2 rs56404409 ? N/A 269 polish ancestry child cases//259 polish ancestry adult cases//582 polish ancestry controls; 121 polish ancestry child cases//85 polish ancestry adult cases//352 polish ancestry controls EFO_0000729 N/A Associate Ulcerative colitis rs56404409-? of NONHSAT024857.2 is significantly associated with the ulcerative colitis by using GWAS analysis in 269 polish ancestry child cases//259 polish ancestry adult cases//582 polish ancestry controls; 121 polish ancestry child cases//85 polish ancestry adult cases//352 polish ancestry controls(p-value = 6E-6 ;OR = 1.5007368). 0.4 Genetic architecture differences between pediatric and adult-onset inflammatory bowel diseases in the Polish population. NCRV0000003300 28928442 NONHSAT141812.2 rs11642862 ? N/A 60,098 european ancestry cases//113,323 european ancestry controls EFO_0007924 N/A Associate Tonsillectomy rs11642862-? of NONHSAT141812.2 is significantly associated with the tonsillectomy by using GWAS analysis in 60,098 european ancestry cases//113,323 european ancestry controls(p-value = 2E-6 ;OR = 0.0617). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. NCRV0000001654 27863252 NONHSAT170703.1 rs1942 G N/A 170,536 european ancestry individuals EFO_0007996 N/A Associate Eosinophil percentage of granulocytes rs1942-G of NONHSAT170703.1 is significantly associated with the eosinophil percentage of granulocytes by using GWAS analysis in 170,536 european ancestry individuals(p-value = 1E-12 ;OR = 0.02536171). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002846 23563607 NONHSAT213098.1 rs798554 C N/A 8,097 european ancestry tall individuals//8,099 european ancestry short individuals; 4,872 european ancestry tall individuals//4,831 european ancestry short individuals EFO_0004339 N/A Associate Height rs798554-C of NONHSAT213098.1 is significantly associated with the height by using GWAS analysis in 8,097 european ancestry tall individuals//8,099 european ancestry short individuals; 4,872 european ancestry tall individuals//4,831 european ancestry short individuals(p-value = 4E-23 ;OR = 1.24). 0.4 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. NCRV0000002224 26198764 NONHSAT183033.1 rs74338693 G N/A 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls EFO_0000692 N/A Associate Schizophrenia rs74338693-G of NONHSAT183033.1 is significantly associated with the schizophrenia by using GWAS analysis in 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls(p-value = 7E-6 ;OR = 1.0638298). 0.4 Genome-wide association study of schizophrenia in Ashkenazi Jews. NCRV0000003131 28935272 NONHSAT218506.1 rs202280 ? N/A 289 european ancestry women EFO_0001075 N/A Associate Overall survival in serous epithelial ovarian cancer treated with paclitaxel and cisplatin rs202280-? of NONHSAT218506.1 is significantly associated with the overall survival in serous epithelial ovarian cancer treated with paclitaxel and cisplatin by using GWAS analysis in 289 european ancestry women(p-value = 6E-6 ;OR = 2.0). 0.4 Genome-wide association study evaluating single-nucleotide polymorphisms and outcomes in patients with advanced stage serous ovarian or primary peritoneal cancer: An NRG Oncology/Gynecologic Oncology Group study. NCRV0000000690 27863252 NONHSAT217648.1 rs1982094 T N/A 170,702 european ancestry individuals EFO_0004833 N/A Associate Neutrophil count rs1982094-T of NONHSAT217648.1 is significantly associated with the neutrophil count by using GWAS analysis in 170,702 european ancestry individuals(p-value = 3E-15 ;OR = 0.07124163). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000599 29228715 NONHSAT163907.1 rs829883 ? N/A 636 austrian ancestry cases//4,294 european ancestry controls EFO_0005406 N/A Associate Colorectal adenoma (advanced) rs829883-? of NONHSAT163907.1 is significantly associated with the colorectal adenoma (advanced) by using GWAS analysis in 636 austrian ancestry cases//4,294 european ancestry controls(p-value = 4E-6 ;OR = 1.3734376). 0.4 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas. NCRV0000003379 27989323 NONHSAT222126.1 rs144160960 C N/A 7,118 finnish ancestry individuals EFO_0004762 N/A Associate Vascular endothelial growth factor levels rs144160960-C of NONHSAT222126.1 is significantly associated with the vascular endothelial growth factor levels by using GWAS analysis in 7,118 finnish ancestry individuals(p-value = 9E-6 ;OR = 0.2573). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. NCRV0000000417 20453841 NONHSAT115190.2 rs2230926 C N/A 2,303 japanese ancestry cases//3,380 japanese ancestry controls; 4,768 japanese ancestry cases//17,359 japanese ancestry controls EFO_0000685 N/A Associate Rheumatoid arthritis rs2230926-C of NONHSAT115190.2 is significantly associated with the rheumatoid arthritis by using GWAS analysis in 2,303 japanese ancestry cases//3,380 japanese ancestry controls; 4,768 japanese ancestry cases//17,359 japanese ancestry controls(p-value = 2E-6 ;OR = 1.31). 0.4 A regulatory variant in CCR6 is associated with rheumatoid arthritis susceptibility. NCRV0000001670 28270201 NONHSAT200957.1 rs62412107 A N/A 16,347 british ancestry from 6863 families. EFO_0003884 N/A Associate Creatinine levels rs62412107-A of NONHSAT200957.1 is significantly associated with the creatinine levels by using GWAS analysis in 16,347 british ancestry from 6863 families.(p-value = 2E-8 ;OR = 0.15169783). 0.4 Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants. NCRV0000003288 28195142 NONHSAT076862.2 rs11693806 C N/A 2,637 european ancestry cases//364 non-array typed//familial imputed icelandic ancestry cases//134,811 european ancestry controls//152,739 non-array typed//familial imputed icelandic ancestry controls. EFO_0002892 N/A Associate Thyroid cancer rs11693806-C of NONHSAT076862.2 is significantly associated with the thyroid cancer by using GWAS analysis in 2,637 european ancestry cases//364 non-array typed//familial imputed icelandic ancestry cases//134,811 european ancestry controls//152,739 non-array typed//familial imputed icelandic ancestry controls.(p-value = 2E-24 ;OR = 1.43). 0.4 A genome-wide association study yields five novel thyroid cancer risk loci. NCRV0000002708 22936669 NONHSAT003779.2 rs11209026 G N/A 1,277 european ancestry cases//1,488 european ancestry controls; 1,365 european ancestry cases//1,396 european ancestry controls EFO_0000384 N/A Associate Crohn's disease rs11209026-G of NONHSAT003779.2 is significantly associated with the crohn's disease by using GWAS analysis in 1,277 european ancestry cases//1,488 european ancestry controls; 1,365 european ancestry cases//1,396 european ancestry controls(p-value = 4E-14 ;OR = 2.84). 0.4 A genome-wide association study on a southern European population identifies a new Crohn's disease susceptibility locus at RBX1-EP300. NCRV0000000550 23850713 NONHSAT003779.2 rs76418789 G N/A 532 korean ancestry cases//733 korean ancestry controls; 1,779 korean ancestry cases//1,709 korean ancestry controls EFO_0000384 N/A Associate Crohn's disease rs76418789-G of NONHSAT003779.2 is significantly associated with the crohn's disease by using GWAS analysis in 532 korean ancestry cases//733 korean ancestry controls; 1,779 korean ancestry cases//1,709 korean ancestry controls(p-value = 2E-10 ;OR = 2.06). 0.4 Genome-wide association study of Crohn's disease in Koreans revealed three new susceptibility loci and common attributes of genetic susceptibility across ethnic populations. NCRV0000000358 22885922 NONHSAT186947.1 rs243088 T N/A 6,377 european ancestry male cases//5,794 european ancestry female cases//22,243 european ancestry male controls//34,619 european ancestry female controls; 12,938 european ancestry male cases//8,553 european ancestry female cases//904 pakistani ancestry male cases//274 pakistani ancestry female cases//30,273 european ancestry male controls//25,374 european ancestry female controls//2,088 pakistani ancestry male controls//384 pakistani ancestry female controls EFO_0001360 N/A Associate Type 2 diabetes rs243088-T of NONHSAT186947.1 is significantly associated with the type 2 diabetes by using GWAS analysis in 6,377 european ancestry male cases//5,794 european ancestry female cases//22,243 european ancestry male controls//34,619 european ancestry female controls; 12,938 european ancestry male cases//8,553 european ancestry female cases//904 pakistani ancestry male cases//274 pakistani ancestry female cases//30,273 european ancestry male controls//25,374 european ancestry female controls//2,088 pakistani ancestry male controls//384 pakistani ancestry female controls(p-value = 2E-8 ;OR = 1.07). 0.4 Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. NCRV0000003038 28928442 NONHSAT108899.2 rs9268072 ? N/A 1,425 european ancestry cases//218,180 european ancestry controls EFO_0008405 N/A Associate Hepatitis b rs9268072-? of NONHSAT108899.2 is significantly associated with the hepatitis b by using GWAS analysis in 1,425 european ancestry cases//218,180 european ancestry controls(p-value = 1E-6 ;OR = 0.2518). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. NCRV0000003317 21357676 NONHSAT211718.1 rs6968865 T N/A 5,840 european ancestry individuals//771 sorbian (founder/genetic isolate) individuals; 4,050 european ancestry individuals EFO_0004330 N/A Associate Coffee consumption rs6968865-T of NONHSAT211718.1 is significantly associated with the coffee consumption by using GWAS analysis in 5,840 european ancestry individuals//771 sorbian (founder/genetic isolate) individuals; 4,050 european ancestry individuals(p-value = 2E-11 ;OR = 0.26). 0.4 Sequence variants at CYP1A1-CYP1A2 and AHR associate with coffee consumption. NCRV0000003635 27863252 NONHSAT219315.1 rs944802 T N/A 172,435 european ancestry individuals EFO_0004308 N/A Associate White blood cell count rs944802-T of NONHSAT219315.1 is significantly associated with the white blood cell count by using GWAS analysis in 172,435 european ancestry individuals(p-value = 2E-11 ;OR = 0.03820392). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000643 28502801 NONHSAT144589.2 rs35096708 G N/A 5,087 individuals EFO_0008006 N/A Associate Skin aging (microtopography measurement) rs35096708-G of NONHSAT144589.2 is significantly associated with the skin aging (microtopography measurement) by using GWAS analysis in 5,087 individuals(p-value = 3E-12 ;OR = 0.1184). 0.4 Genome-Wide Association Shows that Pigmentation Genes Play a Role in Skin Aging. NCRV0000003236 23300278 NONHSAT144766.2 rs623323 T N/A 842 punjabi sikh ancestry cases//774 punjabi sikh ancestry controls; up to 2,512 punjabi sikh ancestry cases and 3,201 punjabi sikh ancestry controls//up to 16,128 south asian ancestry cases and 23,846 south asian ancestry controls//up to 16,746 east asian ancestry cases and 16,961 east asian ancestry controls//up to 8,130 european ancestry cases and 38,987 european ancestry controls EFO_0001360 N/A Associate Type 2 diabetes rs623323-T of NONHSAT144766.2 is significantly associated with the type 2 diabetes by using GWAS analysis in 842 punjabi sikh ancestry cases//774 punjabi sikh ancestry controls; up to 2,512 punjabi sikh ancestry cases and 3,201 punjabi sikh ancestry controls//up to 16,128 south asian ancestry cases and 23,846 south asian ancestry controls//up to 16,746 east asian ancestry cases and 16,961 east asian ancestry controls//up to 8,130 european ancestry cases and 38,987 european ancestry controls(p-value = 4E-6 ;OR = 1.28). 0.4 Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India. NCRV0000003817 23432519 NONHSAT035747.2 rs3811321 C N/A 263 european ancestry individuals; EFO_0005199 N/A Associate Renal transplant outcome rs3811321-C of NONHSAT035747.2 is significantly associated with the renal transplant outcome by using GWAS analysis in 263 european ancestry individuals; (p-value = 8E-8 ;OR = 0.481). 0.4 A genome-wide association study of recipient genotype and medium-term kidney allograft function. NCRV0000000494 22331829 NONHSAT219777.1 rs1875620 ? N/A 6,989 european ancestry individuals EFO_0007804 N/A Associate Response to statins (ldl cholesterol change) rs1875620-? of NONHSAT219777.1 is significantly associated with the response to statins (ldl cholesterol change) by using GWAS analysis in 6,989 european ancestry individuals(p-value = 7E-7 ;OR = 2.8). 0.4 Genetic determinants of statin-induced low-density lipoprotein cholesterol reduction: the Justification for the Use of Statins in Prevention: an Intervention Trial Evaluating Rosuvastatin (JUPITER) trial. NCRV0000001364 21428769 NONHSAT207064.1 rs1061235 ? N/A 65 european ancestry cases//3,987 european ancestry controls; 80 european ancestry cases//257 european ancestry controls GO_0036277 N/A Associate Adverse response to carbamapezine rs1061235-? of NONHSAT207064.1 is significantly associated with the adverse response to carbamapezine by using GWAS analysis in 65 european ancestry cases//3,987 european ancestry controls; 80 european ancestry cases//257 european ancestry controls(p-value = 1E-7 ;OR = 9.12). 0.4 HLA-A*3101 and carbamazepine-induced hypersensitivity reactions in Europeans. NCRV0000002153 28346442 NONHSAT183139.1 rs6755777 T N/A 2,966 european ancestry cases//40,941 european ancestry controls EFO_1001516 N/A Associate High-grade serous ovarian cancer rs6755777-T of NONHSAT183139.1 is significantly associated with the high-grade serous ovarian cancer by using GWAS analysis in 2,966 european ancestry cases//40,941 european ancestry controls(p-value = 5E-13 ;OR = 1.1282876). 0.4 Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer. NCRV0000001837 27863252 NONHSAT166652.1 rs9549260 A N/A 172,952 european ancestry individuals EFO_0004305 N/A Associate Red blood cell count rs9549260-A of NONHSAT166652.1 is significantly associated with the red blood cell count by using GWAS analysis in 172,952 european ancestry individuals(p-value = 2E-9 ;OR = 0.02604552). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001700 26352407 NONHSAT183488.1 rs715 C N/A 3,861 european ancestry individuals; 1,691european ancestry individuals EFO_0005116 N/A Associate Urinary metabolites rs715-C of NONHSAT183488.1 is significantly associated with the urinary metabolites by using GWAS analysis in 3,861 european ancestry individuals; 1,691european ancestry individuals(p-value = 3E-25 ;OR = 0.176). 0.4 Genome-Wide Association Study with Targeted and Non-targeted NMR Metabolomics Identifies 15 Novel Loci of Urinary Human Metabolic Individuality. NCRV0000000139 25628336 NONHSAT178021.1 rs10514168 C N/A 80,494 european ancestry individuals EFO_0006928 N/A Associate Motion sickness rs10514168-C of NONHSAT178021.1 is significantly associated with the motion sickness by using GWAS analysis in 80,494 european ancestry individuals(p-value = 3E-9 ;OR = 0.047). 0.4 Genetic variants associated with motion sickness point to roles for inner ear development, neurological processes and glucose homeostasis. NCRV0000000843 23212062 NONHSAT189858.1 rs11699237 ? N/A 2,454 european ancestry cases EFO_0000692 N/A Associate Schizophrenia rs11699237-? of NONHSAT189858.1 is significantly associated with the schizophrenia by using GWAS analysis in 2,454 european ancestry cases(p-value = 3E-6 ;OR = 0.1221). 0.4 Genome-wide association study of clinical dimensions of schizophrenia: polygenic effect on disorganized symptoms. NCRV0000003224 27770636 NONHSAT100136.2 rs921390 T N/A 1,825 african american ancestry cases//3,784 african american ancestry controls; EFO_1001870 N/A Associate Late-onset alzheimer's disease rs921390-T of NONHSAT100136.2 is significantly associated with the late-onset alzheimer's disease by using GWAS analysis in 1,825 african american ancestry cases//3,784 african american ancestry controls; (p-value = 1E-6 ;OR = 0.58). 0.4 Two novel loci, COBL and SLC10A2, for Alzheimer's disease in African Americans. NCRV0000003725 22705344 NONHSAT150262.1 rs1061170 ? N/A 819 european ancestry geographic atrophy cases//4,134 european ancestry controls EFO_0001365 N/A Associate Age-related macular degeneration (cnv) rs1061170-? of NONHSAT150262.1 is significantly associated with the age-related macular degeneration (cnv) by using GWAS analysis in 819 european ancestry geographic atrophy cases//4,134 european ancestry controls(p-value = 1E-108 ;OR = 2.78). 0.4 Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes. NCRV0000001053 24149102 NONHSAT011305.2 rs501764 C N/A 1,465 european ancestry cases//6,417 european ancestry controls; 1,071 european ancestry cases//953 cases//1,853 controls EFO_0000183 N/A Associate Hodgkin's lymphoma rs501764-C of NONHSAT011305.2 is significantly associated with the hodgkin's lymphoma by using GWAS analysis in 1,465 european ancestry cases//6,417 european ancestry controls; 1,071 european ancestry cases//953 cases//1,853 controls(p-value = 4E-10 ;OR = 1.39). 0.4 Variation at 3p24.1 and 6q23.3 influences the risk of Hodgkin's lymphoma. NCRV0000003771 24954895 NONHSAT029820.2 rs4842666 T N/A 55,796 european ancestry individuals; 43,445 european ancestry individuals//1,849 chinese ancestry individuals//2,502 malay ancestry individuals//2,476 asian indian ancestry individuals//1,855 asian ancestry individuals EFO_0006340 N/A Associate Blood pressure rs4842666-T of NONHSAT029820.2 is significantly associated with the blood pressure by using GWAS analysis in 55,796 european ancestry individuals; 43,445 european ancestry individuals//1,849 chinese ancestry individuals//2,502 malay ancestry individuals//2,476 asian indian ancestry individuals//1,855 asian ancestry individuals(p-value = 4E-8 ;OR = 0.71). 0.4 Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia. NCRV0000000571 26293465 NONHSAT156605.1 rs8177757 ? N/A 2,964 european ancestry individuals//683 african american individuals; 4,464 european ancestry individuals EFO_0003914 N/A Associate Soluble interleukin-2 receptor subunit alpha rs8177757-? of NONHSAT156605.1 is significantly associated with the soluble interleukin-2 receptor subunit alpha by using GWAS analysis in 2,964 european ancestry individuals//683 african american individuals; 4,464 european ancestry individuals(p-value = 2E-10 ;OR = ?). 0.4 Plasma Levels of Soluble Interleukin-2 Receptor alpha: Associations With Clinical Cardiovascular Events and Genome-Wide Association Scan. NCRV0000000927 26053186 NONHSAT194186.1 rs189894228 ? N/A 361 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//440 european ancestry current smoker individuals//452 latino current smoker individuals//702 japanese ancestry current smoker individuals EFO_0001071 in smokers Associate 3-hydroxy-1-methylpropylmercapturic acid levels in smokers rs189894228-? of NONHSAT194186.1 is significantly associated with the 3-hydroxy-1-methylpropylmercapturic acid levels in smokers by using GWAS analysis in 361 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//440 european ancestry current smoker individuals//452 latino current smoker individuals//702 japanese ancestry current smoker individuals(p-value = 1E-6 ;OR = 1.0929). 0.4 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. NCRV0000000559 24665060 NONHSAT205898.1 rs11952583 ? N/A 754 bangladeshi ancestry never smoker males//2,565 bangladeshi ancestry never smoker females//1,837 bangladeshi ancestry ever smoker males//198 bangladeshi ancestry ever smoker females EFO_0005670 N/A Associate Smoking initiation rs11952583-? of NONHSAT205898.1 is significantly associated with the smoking initiation by using GWAS analysis in 754 bangladeshi ancestry never smoker males//2,565 bangladeshi ancestry never smoker females//1,837 bangladeshi ancestry ever smoker males//198 bangladeshi ancestry ever smoker females(p-value = 5E-6 ;OR = ?). 0.4 Genome-wide association study of smoking behaviours among Bangladeshi adults. NCRV0000001182 24376456 NONHSAT214711.1 rs11766519 C N/A up to 6,882 individuals EFO_0005763 N/A Associate Pulse pressure (alcohol consumption interaction) rs11766519-C of NONHSAT214711.1 is significantly associated with the pulse pressure (alcohol consumption interaction) by using GWAS analysis in up to 6,882 individuals(p-value = 1E-7 ;OR = 0.102). 0.4 Gene-alcohol interactions identify several novel blood pressure loci including a promising locus near SLC16A9. NCRV0000000322 28540026 NONHSAT148332.1 rs301798 ? N/A schizophrenia cases and controls (see ripke//2014)cases//up to 1,190 controls EFO_0000692 N/A Associate Schizophrenia rs301798-? of NONHSAT148332.1 is significantly associated with the schizophrenia by using GWAS analysis in schizophrenia cases and controls (see ripke//2014)cases//up to 1,190 controls(p-value = 7E-9 ;OR = 1.0638298). 0.4 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. NCRV0000001155 26634245 NONHSAT161284.1 rs150267141 T N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs150267141-T of NONHSAT161284.1 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 3E-6 ;OR = 0.134). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000003616 22993228 NONHSAT207130.1 rs3749982 A N/A 4,683 european ancestry individuals EFO_0004994 N/A Associate Disc degeneration (lumbar) rs3749982-A of NONHSAT207130.1 is significantly associated with the disc degeneration (lumbar) by using GWAS analysis in 4,683 european ancestry individuals(p-value = 1E-7 ;OR = 0.19). 0.4 Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects. NCRV0000003914 21399635 NONHSAT161546.1 rs6421571 C N/A 1,840 european ancestry cases//5,163 european ancestry controls and (liu et al); 620 european ancestry cases//2,514 european ancestry controls EFO_0004267 N/A Associate Primary biliary cholangitis rs6421571-C of NONHSAT161546.1 is significantly associated with the primary biliary cholangitis by using GWAS analysis in 1,840 european ancestry cases//5,163 european ancestry controls and (liu et al); 620 european ancestry cases//2,514 european ancestry controls(p-value = 3E-12 ;OR = 1.37). 0.4 Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis. NCRV0000001685 19060906 NONHSAT031256.2 rs2650000 A N/A 19,840 european ancestry individuals; up to 20,623 european ancestry individuals EFO_0000319 N/A Associate Ldl cholesterol rs2650000-A of NONHSAT031256.2 is significantly associated with the ldl cholesterol by using GWAS analysis in 19,840 european ancestry individuals; up to 20,623 european ancestry individuals(p-value = 2E-8 ;OR = 0.07). 0.4 Common variants at 30 loci contribute to polygenic dyslipidemia. NCRV0000000964 27182965 NONHSAT018095.2 rs900145 ? N/A 76,831 european ancestry individuals EFO_0004703 N/A Associate Menarche (age at onset) rs900145-? of NONHSAT018095.2 is significantly associated with the menarche (age at onset) by using GWAS analysis in 76,831 european ancestry individuals(p-value = 1E-6 ;OR = ?). 0.4 Detection and interpretation of shared genetic influences on 42 human traits. NCRV0000003309 25673413 NONHSAT121628.2 rs2245368 C N/A up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals EFO_0001073 N/A Associate Body mass index rs2245368-C of NONHSAT121628.2 is significantly associated with the body mass index by using GWAS analysis in up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals(p-value = 1E-6 ;OR = 0.034). 0.4 Genetic studies of body mass index yield new insights for obesity biology. NCRV0000000026 22504420 NONHSAT153491.1 rs6426749 C N/A up to 32,961 european and east asian ancestry individuals; up to 50,933 european and east asian ancestry individuals EFO_0003923 N/A Associate Bone mineral density rs6426749-C of NONHSAT153491.1 is significantly associated with the bone mineral density by using GWAS analysis in up to 32,961 european and east asian ancestry individuals; up to 50,933 european and east asian ancestry individuals(p-value = 7E-57 ;OR = 0.11). 0.4 Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. NCRV0000002758 20205591 NONHSAT161332.1 rs1357339 ? N/A 515 african american cases EFO_0000180 N/A Associate Hiv-1 viral setpoint rs1357339-? of NONHSAT161332.1 is significantly associated with the hiv-1 viral setpoint by using GWAS analysis in 515 african american cases(p-value = 5E-6 ;OR = ?). 0.4 Host determinants of HIV-1 control in African Americans. NCRV0000000359 28448500 NONHSAT105398.2 rs3088050 A N/A 2,518 african american women//85,730 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//54,792 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men EFO_0007789 joint analysis main effects and physical activity interaction Associate Waist circumference adjusted for bmi in active individuals rs3088050-A of NONHSAT105398.2 is significantly associated with the waist circumference adjusted for bmi in active individuals by using GWAS analysis in 2,518 african american women//85,730 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//54,792 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men(p-value = 9E-8 ;OR = 0.039). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. NCRV0000002064 28453575 NONHSAT139199.2 rs1050828 A N/A 12,502 hispanic/latino individuals; 4,772 hispanic/latino individuals EFO_0004527 N/A Associate Mean corpuscular hemoglobin rs1050828-A of NONHSAT139199.2 is significantly associated with the mean corpuscular hemoglobin by using GWAS analysis in 12,502 hispanic/latino individuals; 4,772 hispanic/latino individuals(p-value = 5E-11 ;OR = 0.546). 0.4 Genome-wide association study of red blood cell traits in Hispanics/Latinos: The Hispanic Community Health Study/Study of Latinos. NCRV0000002580 26634245 NONHSAT172351.1 rs2036527 A N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs2036527-A of NONHSAT172351.1 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 9E-15 ;OR = 0.071). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000000633 29093273 NONHSAT084935.2 rs17683011 G N/A 3,344 swedish ancestry individuals; 4,905 finnish ancestry individuals EFO_0001360 N/A Associate Glp-1 levels in response to oral glucose tolerance test (120 minutes) rs17683011-G of NONHSAT084935.2 is significantly associated with the glp-1 levels in response to oral glucose tolerance test (120 minutes) by using GWAS analysis in 3,344 swedish ancestry individuals; 4,905 finnish ancestry individuals(p-value = 4E-8 ;OR = 0.091). 0.4 Genetic determinants of circulating GIP and GLP-1 concentrations.LID - 10.1172/jci.insight.93306 [doi]LID - 93306 [pii]AB - The secretion of insulin and glucagon from the pancreas and the incretin hormones glucagon-like peptide-1 (GLP-1) and gl NCRV0000000600 28928442 NONHSAT108569.2 rs17186335 ? N/A 60,098 european ancestry cases//113,323 european ancestry controls EFO_0007924 N/A Associate Tonsillectomy rs17186335-? of NONHSAT108569.2 is significantly associated with the tonsillectomy by using GWAS analysis in 60,098 european ancestry cases//113,323 european ancestry controls(p-value = 3E-8 ;OR = 0.0898). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. NCRV0000003929 24390342 NONHSAT186781.1 rs10175798 A N/A up to 14,361 european ancestry cases//up to 42,923 european ancestry controls//up to 4,873 east asian ancestry cases//up to 17,642 east asian ancestry controls; up to 3,775 european ancestry cases//up to 5,801 european ancestry controls//up to 6,871 east asian ancestry cases//up to 6,392 east asian ancestry controls EFO_0000685 N/A Associate Rheumatoid arthritis rs10175798-A of NONHSAT186781.1 is significantly associated with the rheumatoid arthritis by using GWAS analysis in up to 14,361 european ancestry cases//up to 42,923 european ancestry controls//up to 4,873 east asian ancestry cases//up to 17,642 east asian ancestry controls; up to 3,775 european ancestry cases//up to 5,801 european ancestry controls//up to 6,871 east asian ancestry cases//up to 6,392 east asian ancestry controls(p-value = 1E-9 ;OR = 1.08). 0.4 Genetics of rheumatoid arthritis contributes to biology and drug discovery. NCRV0000000344 28566273 NONHSAT124467.2 rs1182436 C N/A up to 26,676 european ancestry cases//up to 132,532 european ancestry controls; 14,545 european ancestry cases//38,994 european ancestry controls EFO_0001360 N/A Associate Type 2 diabetes rs1182436-C of NONHSAT124467.2 is significantly associated with the type 2 diabetes by using GWAS analysis in up to 26,676 european ancestry cases//up to 132,532 european ancestry controls; 14,545 european ancestry cases//38,994 european ancestry controls(p-value = 2E-8 ;OR = 1.08). 0.4 An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans. NCRV0000002618 24554482 NONHSAT034710.2 rs7985891 ? N/A 19 european ancestry cases//30 african american cases//9 hispanic cases//85 european ancestry controls//49 african american controls//30 hispanic controls EFO_0000180 N/A Associate Response to anti-retroviral therapy (ddi/d4t) in hiv-1 infection (grade 2 peripheral neuropathy) rs7985891-? of NONHSAT034710.2 is significantly associated with the response to anti-retroviral therapy (ddi/d4t) in hiv-1 infection (grade 2 peripheral neuropathy) by using GWAS analysis in 19 european ancestry cases//30 african american cases//9 hispanic cases//85 european ancestry controls//49 african american controls//30 hispanic controls(p-value = 2E-7 ;OR = 38.2). 0.4 Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384. NCRV0000003869 26198764 NONHSAT172124.1 rs117799466 C N/A 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls EFO_0000692 N/A Associate Schizophrenia rs117799466-C of NONHSAT172124.1 is significantly associated with the schizophrenia by using GWAS analysis in 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls(p-value = 2E-6 ;OR = 1.06). 0.4 Genome-wide association study of schizophrenia in Ashkenazi Jews. NCRV0000003075 27863252 NONHSAT026062.2 rs10466905 A N/A 172,435 european ancestry individuals EFO_0004308 N/A Associate White blood cell count rs10466905-A of NONHSAT026062.2 is significantly associated with the white blood cell count by using GWAS analysis in 172,435 european ancestry individuals(p-value = 3E-18 ;OR = 0.0399174). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000164 27863252 NONHSAT026062.2 rs10466905 A N/A 166,066 european ancestry individuals EFO_0004309 N/A Associate Platelet count rs10466905-A of NONHSAT026062.2 is significantly associated with the platelet count by using GWAS analysis in 166,066 european ancestry individuals(p-value = 3E-9 ;OR = 0.02756545). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003937 23722424 NONHSAT122572.2 rs4073894 A N/A up to 101,069 european ancestry individuals; 25,490 european ancestry individuals EFO_0004784 N/A Associate Educational attainment rs4073894-A of NONHSAT122572.2 is significantly associated with the educational attainment by using GWAS analysis in up to 101,069 european ancestry individuals; 25,490 european ancestry individuals(p-value = 6E-6 ;OR = 1.062). 0.4 GWAS of 126,559 individuals identifies genetic variants associated with educational attainment. NCRV0000001905 28087736 NONHSAT108734.2 rs1265158 ? N/A 399 european ancestry cases//1,318 european ancestry controls//666 european ancestry trios//795 asian trios; 224 european ancestry cases//921 european ancestry controls//152 mayan cases//323 mayan controls//198 middle eastern cases//391 middle eastern controls EFO_0003959 N/A Associate Nonsyndromic cleft lip with or without cleft palate rs1265158-? of NONHSAT108734.2 is significantly associated with the nonsyndromic cleft lip with or without cleft palate by using GWAS analysis in 399 european ancestry cases//1,318 european ancestry controls//666 european ancestry trios//795 asian trios; 224 european ancestry cases//921 european ancestry controls//152 mayan cases//323 mayan controls//198 middle eastern cases//391 middle eastern controls(p-value = 3E-6 ;OR = ?). 0.4 Imputation of orofacial clefting data identifies novel risk loci and sheds light on the genetic background of cleft lip +/- cleft palate and cleft palate only. NCRV0000002814 27197191 NONHSAT200257.1 rs7679673 A N/A 5,020 european ancestry lung cancer cases//3,718 european ancestry lung adenocarcinoma cases//3,422 european ancestry lung squamous cell carcinoma cases//15,414 european ancestry colorectal cancer cases//10,809 european ancestry breast cancer cases//4,939 european ancestry estrogen receptor negative breast cancer cases//1,098 european ancestry ovarian cancer cases//2,556 european ancestry serous ovarian cancer cases//715 european ancestry ovarian endometrioid carcinoma cases//9,710 european ancestry prostate cancer cases//4,450 european ancestry aggressive prostate cancer cases// 61,820 european ancestry controls EFO_0000311 N/A Associate Cancer (pleiotropy) rs7679673-A of NONHSAT200257.1 is significantly associated with the cancer (pleiotropy) by using GWAS analysis in 5,020 european ancestry lung cancer cases//3,718 european ancestry lung adenocarcinoma cases//3,422 european ancestry lung squamous cell carcinoma cases//15,414 european ancestry colorectal cancer cases//10,809 european ancestry breast cancer cases//4,939 european ancestry estrogen receptor negative breast cancer cases//1,098 european ancestry ovarian cancer cases//2,556 european ancestry serous ovarian cancer cases//715 european ancestry ovarian endometrioid carcinoma cases//9,710 european ancestry prostate cancer cases//4,450 european ancestry aggressive prostate cancer cases// 61,820 european ancestry controls(p-value = 1E-10 ;OR = ?). 0.4 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations. NCRV0000002788 23222517 NONHSAT164350.1 rs10849023 C N/A 62,553 european ancestry individuals//9,308 south asian ancestry individuals; 63,506 european ancestry individuals EFO_0004527 N/A Associate Red blood cell traits rs10849023-C of NONHSAT164350.1 is significantly associated with the red blood cell traits by using GWAS analysis in 62,553 european ancestry individuals//9,308 south asian ancestry individuals; 63,506 european ancestry individuals(p-value = 8E-12 ;OR = 0.008). 0.4 Seventy-five genetic loci influencing the human red blood cell. NCRV0000001874 25493955 NONHSAT140921.2 rs12917707 T N/A up to 45,530 european ancestry individuals; up to 18,028 european ancestry individuals EFO_0003884 N/A Associate Kidney function decline traits rs12917707-T of NONHSAT140921.2 is significantly associated with the kidney function decline traits by using GWAS analysis in up to 45,530 european ancestry individuals; up to 18,028 european ancestry individuals(p-value = 4E-6 ;OR = 0.22). 0.4 Genome-wide association study of kidney function decline in individuals of European descent. NCRV0000003454 20453842 NONHSAT170965.1 rs17374222 A N/A 5,539 european ancestry cases//20,169 european ancestry controls; 6,768 european ancestry cases//8,806 european ancestry controls EFO_0000685 N/A Associate Rheumatoid arthritis rs17374222-A of NONHSAT170965.1 is significantly associated with the rheumatoid arthritis by using GWAS analysis in 5,539 european ancestry cases//20,169 european ancestry controls; 6,768 european ancestry cases//8,806 european ancestry controls(p-value = 2E-6 ;OR = 1.13). 0.4 Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. NCRV0000000073 28441456 NONHSAT084465.2 rs16981003 T N/A 2,187 european ancestry individuals EFO_0007858 N/A Associate Facial morphology (factor 2//vertical position of orbits relative to midface) rs16981003-T of NONHSAT084465.2 is significantly associated with the facial morphology (factor 2//vertical position of orbits relative to midface) by using GWAS analysis in 2,187 european ancestry individuals(p-value = 2E-6 ;OR = 0.3912). 0.4 Genome-wide association study of facial morphology reveals novel associations with FREM1 and PARK2. NCRV0000003393 25751625 NONHSAT022220.2 rs3903072 G N/A 15,748 european ancestry cases//18,084 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls EFO_0000305 N/A Associate Breast cancer rs3903072-G of NONHSAT022220.2 is significantly associated with the breast cancer by using GWAS analysis in 15,748 european ancestry cases//18,084 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls(p-value = 1E-10 ;OR = 1.0526316). 0.4 Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer. NCRV0000002277 27863252 NONHSAT165172.1 rs77741769 T N/A 172,433 european ancestry individuals EFO_0004526 N/A Associate Mean corpuscular volume rs77741769-T of NONHSAT165172.1 is significantly associated with the mean corpuscular volume by using GWAS analysis in 172,433 european ancestry individuals(p-value = 1E-10 ;OR = 0.02403929). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001186 27863252 NONHSAT192373.1 rs713909 C N/A 171,643 european ancestry individuals EFO_0004587 N/A Associate Lymphocyte counts rs713909-C of NONHSAT192373.1 is significantly associated with the lymphocyte counts by using GWAS analysis in 171,643 european ancestry individuals(p-value = 2E-16 ;OR = 0.02985506). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002334 21297633 NONHSAT191834.1 rs2836878 G N/A 6,687 european ancestry cases//19,718 european ancestry controls; 9,628 european ancestry cases//12,917 european ancestry controls EFO_0000729 N/A Associate Ulcerative colitis rs2836878-G of NONHSAT191834.1 is significantly associated with the ulcerative colitis by using GWAS analysis in 6,687 european ancestry cases//19,718 european ancestry controls; 9,628 european ancestry cases//12,917 european ancestry controls(p-value = 2E-22 ;OR = 1.25). 0.4 Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. NCRV0000000551 21775986 NONHSAT216770.1 rs9987353 ? N/A 30,033 african american individuals EFO_0005919 N/A Associate Recombination measurement rs9987353-? of NONHSAT216770.1 is significantly associated with the recombination measurement by using GWAS analysis in 30,033 african american individuals(p-value = 8E-9 ;OR = ?). 0.4 The landscape of recombination in African Americans. NCRV0000001819 26058915 NONHSAT152363.1 rs4072037 C N/A 2,737 african american individuals; 942 african american individuals EFO_0004845 N/A Associate Magnesium levels rs4072037-C of NONHSAT152363.1 is significantly associated with the magnesium levels by using GWAS analysis in 2,737 african american individuals; 942 african american individuals(p-value = 9E-12 ;OR = 0.012). 0.4 Genetic loci for serum magnesium among African-Americans and gene-environment interaction at MUC1 and TRPM6 in European-Americans: the Atherosclerosis Risk in Communities (ARIC) study. NCRV0000002411 26192919 NONHSAT199814.1 rs4692386 A N/A 5,956 european ancestry cases//14,927 european ancestry controls; 14,594 european ancestry cases//26,715 european ancestry controls//151 iranian ancestry cases//342 iranian ancestry controls//184 indian ancestry cases//990 indian ancestry controls//1,690 east asian ancestry cases//3,719 east asian ancestry controls EFO_0000384 N/A Associate Crohn's disease rs4692386-A of NONHSAT199814.1 is significantly associated with the crohn's disease by using GWAS analysis in 5,956 european ancestry cases//14,927 european ancestry controls; 14,594 european ancestry cases//26,715 european ancestry controls//151 iranian ancestry cases//342 iranian ancestry controls//184 indian ancestry cases//990 indian ancestry controls//1,690 east asian ancestry cases//3,719 east asian ancestry controls(p-value = 3E-7 ;OR = 1.0656859). 0.4 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. NCRV0000003369 28448500 NONHSAT210418.1 rs943466 ? N/A 2,518 african american women//86,278 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//55,137 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men EFO_0001073 joint analysis main effects and physical activity interaction Associate Body mass index (joint analysis main effects and physical activity interaction) rs943466-? of NONHSAT210418.1 is significantly associated with the body mass index (joint analysis main effects and physical activity interaction) by using GWAS analysis in 2,518 african american women//86,278 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//55,137 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men(p-value = 7E-6 ;OR = ?). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. NCRV0000001517 22589738 NONHSAT154607.1 rs12022722 T N/A 5,560 european ancestry female individuals//4,997 european ancestry male individuals EFO_0004767 N/A Associate Visceral adipose tissue/subcutaneous adipose tissue ratio rs12022722-T of NONHSAT154607.1 is significantly associated with the visceral adipose tissue/subcutaneous adipose tissue ratio by using GWAS analysis in 5,560 european ancestry female individuals//4,997 european ancestry male individuals(p-value = 2E-6 ;OR = ?). 0.4 Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. NCRV0000000113 28443625 NONHSAT172850.1 rs4787491 A N/A 98,173 european ancestry women//64,373 european ancestry men//5,829 european ancestry individuals//10,500 african american/afro-caribbean ancestry women//2,706 african american/afro-caribbean ancestry men//1,030 indian asian ancestry women//7,648 indian asian ancestry men//1,793 filipino ancestry women//2,944 hispanic/latino ancestry women//1,764 hispanic/latino ancestry men; 21,496 european ancestry women//24,385 european ancestry men//118,364 european ancestry individuals//2,326 african american/afro-caribbean ancestry women//855 african american/afro-caribbean ancestry men EFO_0001073 adjusted for smoking behaviour Associate Bmi (adjusted for smoking behaviour) rs4787491-A of NONHSAT172850.1 is significantly associated with the bmi (adjusted for smoking behaviour) by using GWAS analysis in 98,173 european ancestry women//64,373 european ancestry men//5,829 european ancestry individuals//10,500 african american/afro-caribbean ancestry women//2,706 african american/afro-caribbean ancestry men//1,030 indian asian ancestry women//7,648 indian asian ancestry men//1,793 filipino ancestry women//2,944 hispanic/latino ancestry women//1,764 hispanic/latino ancestry men; 21,496 european ancestry women//24,385 european ancestry men//118,364 european ancestry individuals//2,326 african american/afro-caribbean ancestry women//855 african american/afro-caribbean ancestry men(p-value = 2E-9 ;OR = 0.0201). 0.4 Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. NCRV0000002791 26242244 NONHSAT158458.1 rs4608000 ? N/A 128 han chinese ancestry cases EFO_0007700 N/A Associate Exploratory eye movement dysfunction in schizophrenia (number of eye fixations) rs4608000-? of NONHSAT158458.1 is significantly associated with the exploratory eye movement dysfunction in schizophrenia (number of eye fixations) by using GWAS analysis in 128 han chinese ancestry cases(p-value = 3E-6 ;OR = 8.081). 0.4 Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia. NCRV0000003084 23740937 NONHSAT174663.1 rs12711490 ? N/A up to 2,761 european ancestry systemic sclerosis cases//769 european ancestry systemic lupus erythematosus cases//7,381 european ancestry controls; up to 1,578 european ancestry systemic sclerosis cases//1,727 european ancestry systemic lupus erythematosus cases//6,893 european ancestry controls EFO_0000717 N/A Associate Systemic lupus erythematosus and systemic sclerosis rs12711490-? of NONHSAT174663.1 is significantly associated with the systemic lupus erythematosus and systemic sclerosis by using GWAS analysis in up to 2,761 european ancestry systemic sclerosis cases//769 european ancestry systemic lupus erythematosus cases//7,381 european ancestry controls; up to 1,578 european ancestry systemic sclerosis cases//1,727 european ancestry systemic lupus erythematosus cases//6,893 european ancestry controls(p-value = 3E-10 ;OR = 1.28). 0.4 A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci. NCRV0000002967 28928442 NONHSAT067101.2 rs601338 ? N/A 43,826 european ancestry cases//15,720 european ancestry controls EFO_0008417 N/A Associate Number of common colds rs601338-? of NONHSAT067101.2 is significantly associated with the number of common colds by using GWAS analysis in 43,826 european ancestry cases//15,720 european ancestry controls(p-value = 4E-7 ;OR = 0.0198). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. NCRV0000002833 23128233 NONHSAT216433.1 rs6651252 T N/A up to 12,924 european ancestry cases//up to 21,442 european ancestry controls; up to 25,683 european ancestry cases//up to 17,015 european ancestry controls EFO_0000384 N/A Associate Crohn's disease rs6651252-T of NONHSAT216433.1 is significantly associated with the crohn's disease by using GWAS analysis in up to 12,924 european ancestry cases//up to 21,442 european ancestry controls; up to 25,683 european ancestry cases//up to 17,015 european ancestry controls(p-value = 1E-16 ;OR = 1.185). 0.4 Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. NCRV0000000262 21833088 NONHSAT173324.1 rs386965 G N/A 9,772 european ancestry cases//16,849 european ancestry controls; 4,218 european ancestry cases//7,296 european ancestry controls EFO_0003885 N/A Associate Multiple sclerosis rs386965-G of NONHSAT173324.1 is significantly associated with the multiple sclerosis by using GWAS analysis in 9,772 european ancestry cases//16,849 european ancestry controls; 4,218 european ancestry cases//7,296 european ancestry controls(p-value = 4E-6 ;OR = 1.09). 0.4 Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. NCRV0000003328 23251661 NONHSAT133998.2 rs10125054 A N/A 815 hispanic children from 263 families EFO_0003940 N/A Associate Obesity-related traits rs10125054-A of NONHSAT133998.2 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 4E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. NCRV0000003365 23400010 NONHSAT212066.1 rs7801534 G N/A 425 european ancestry cases//342 african american cases EFO_0000537 Thiazide-induced Associate Thiazide-induced adverse metabolic effects in hypertensive patients rs7801534-G of NONHSAT212066.1 is significantly associated with the thiazide-induced adverse metabolic effects in hypertensive patients by using GWAS analysis in 425 european ancestry cases//342 african american cases(p-value = 7E-7 ;OR = 4.96). 0.4 Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans. NCRV0000001818 28928442 NONHSAT210415.1 rs12190797 ? N/A 17,457 european ancestry cases//68,446 european ancestry controls EFO_0008403 N/A Associate Mononucleosis rs12190797-? of NONHSAT210415.1 is significantly associated with the mononucleosis by using GWAS analysis in 17,457 european ancestry cases//68,446 european ancestry controls(p-value = 7E-6 ;OR = 0.1289). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. NCRV0000003484 28199695 NONHSAT099588.2 rs71638129 G N/A 41,355 european ancestry men and 43,369 european ancestry women EFO_0008377 N/A Associate Itch intensity from mosquito bite adjusted by bite size rs71638129-G of NONHSAT099588.2 is significantly associated with the itch intensity from mosquito bite adjusted by bite size by using GWAS analysis in 41,355 european ancestry men and 43,369 european ancestry women(p-value = 2E-6 ;OR = 0.0207213). 0.4 GWAS of self-reported mosquito bite size, itch intensity and attractiveness to mosquitoes implicates immune-related predisposition loci. NCRV0000002771 21909110 NONHSAT206981.1 rs198846 G N/A 74,064 european ancestry individuals; 48,607 european ancestry individuals EFO_0006340 N/A Associate Blood pressure rs198846-G of NONHSAT206981.1 is significantly associated with the blood pressure by using GWAS analysis in 74,064 european ancestry individuals; 48,607 european ancestry individuals(p-value = 2E-12 ;OR = 0.478). 0.4 Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. NCRV0000001604 26663301 NONHSAT152549.1 rs76413021 ? N/A 1,174 korean ancestry cases//4,246 korean ancestry controls; 739 korean ancestry cases// 677 chinese ancestry cases// 436 korean ancestry controls//709 chinese ancestry controls EFO_0002690 N/A Associate Systemic lupus erythematosus rs76413021-? of NONHSAT152549.1 is significantly associated with the systemic lupus erythematosus by using GWAS analysis in 1,174 korean ancestry cases//4,246 korean ancestry controls; 739 korean ancestry cases// 677 chinese ancestry cases// 436 korean ancestry controls//709 chinese ancestry controls(p-value = 3E-13 ;OR = 1.52). 0.4 Identification of a Systemic Lupus Erythematosus Risk Locus Spanning ATG16L2, FCHSD2, and P2RY2 in Koreans. NCRV0000000236 22331829 NONHSAT179793.1 rs7412 ? N/A 6,989 european ancestry individuals EFO_0007804 N/A Associate Response to statins (ldl cholesterol change) rs7412-? of NONHSAT179793.1 is significantly associated with the response to statins (ldl cholesterol change) by using GWAS analysis in 6,989 european ancestry individuals(p-value = 2E-47 ;OR = 6.2). 0.4 Genetic determinants of statin-induced low-density lipoprotein cholesterol reduction: the Justification for the Use of Statins in Prevention: an Intervention Trial Evaluating Rosuvastatin (JUPITER) trial. NCRV0000003719 27126917 NONHSAT172183.1 rs17571096 T N/A 874 european ancestry individuals EFO_0007828 N/A Associate Daytime sleep phenotypes rs17571096-T of NONHSAT172183.1 is significantly associated with the daytime sleep phenotypes by using GWAS analysis in 874 european ancestry individuals(p-value = 1E-6 ;OR = 2.16). 0.4 Genome-wide association analysis of actigraphic sleep phenotypes in the LIFE Adult Study. NCRV0000000954 28346442 NONHSAT221109.1 rs320203 A N/A 2,566 european ancestry cases//40,941 european ancestry controls EFO_0006462 N/A Associate Mucinous ovarian carcinoma rs320203-A of NONHSAT221109.1 is significantly associated with the mucinous ovarian carcinoma by using GWAS analysis in 2,566 european ancestry cases//40,941 european ancestry controls(p-value = 2E-8 ;OR = 1.2856314). 0.4 Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer. NCRV0000002380 28928442 NONHSAT207095.1 rs150180633 ? N/A 4,426 european ancestry cases//84,290 european ancestry controls EFO_0008407 N/A Associate Tuberculosis rs150180633-? of NONHSAT207095.1 is significantly associated with the tuberculosis by using GWAS analysis in 4,426 european ancestry cases//84,290 european ancestry controls(p-value = 4E-14 ;OR = 0.3518). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. NCRV0000003249 26034056 NONHSAT216393.1 rs13252298 A N/A 6,406 european ancestry cases//601 african american cases//288 east asian ancestry cases//488 latino cases30,866 european ancestry controls//1,650 african american controls//2,938 east asian ancestry controls//3,141 latino controls; 4,599 european ancestry cases//2,265 african american cases//2,940 european ancestry controls//2,414 african american controls EFO_0001663 N/A Associate Prostate cancer rs13252298-A of NONHSAT216393.1 is significantly associated with the prostate cancer by using GWAS analysis in 6,406 european ancestry cases//601 african american cases//288 east asian ancestry cases//488 latino cases30,866 european ancestry controls//1,650 african american controls//2,938 east asian ancestry controls//3,141 latino controls; 4,599 european ancestry cases//2,265 african american cases//2,940 european ancestry controls//2,414 african american controls(p-value = 2E-6 ;OR = 1.11). 0.4 A large multiethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences. NCRV0000003586 28928442 NONHSAT203365.1 rs79031633 ? N/A 1,115 european ancestry cases//88,076 european ancestry controls EFO_0008416 N/A Associate Rheumatic fever rs79031633-? of NONHSAT203365.1 is significantly associated with the rheumatic fever by using GWAS analysis in 1,115 european ancestry cases//88,076 european ancestry controls(p-value = 9E-6 ;OR = 6.6284). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. NCRV0000003732 27863252 NONHSAT155096.1 rs1912580 C N/A 172,275 european ancestry individuals EFO_0004842 N/A Associate Eosinophil counts rs1912580-C of NONHSAT155096.1 is significantly associated with the eosinophil counts by using GWAS analysis in 172,275 european ancestry individuals(p-value = 5E-15 ;OR = 0.0388432). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000616 29221444 NONHSAT186051.1 rs6754498 ? N/A 691 african american individuals; 205 african american individuals EFO_0004723 N/A Associate Coronary artery calcified atherosclerotic plaque score in type 2 diabetes rs6754498-? of NONHSAT186051.1 is significantly associated with the coronary artery calcified atherosclerotic plaque score in type 2 diabetes by using GWAS analysis in 691 african american individuals; 205 african american individuals(p-value = 6E-7 ;OR = 0.832). 0.4 Genome-wide association study of coronary artery calcified atherosclerotic plaque in African Americans with type 2 diabetes. NCRV0000001306 26634245 NONHSAT196125.1 rs115371810 G N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs115371810-G of NONHSAT196125.1 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 3E-6 ;OR = 0.484). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000001943 28346442 NONHSAT183139.1 rs6755777 T N/A 22,406 european ancestry cases//40,941 european ancestry controls EFO_0001075 N/A Associate Epithelial ovarian cancer rs6755777-T of NONHSAT183139.1 is significantly associated with the epithelial ovarian cancer by using GWAS analysis in 22,406 european ancestry cases//40,941 european ancestry controls(p-value = 3E-15 ;OR = 1.12). 0.4 Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer. NCRV0000000766 25918132 NONHSAT191959.1 rs10048897 G N/A 74 european ancestry cases//824 european ancestry controls EFO_0000270 N/A Associate Diisocyanate-induced asthma rs10048897-G of NONHSAT191959.1 is significantly associated with the diisocyanate-induced asthma by using GWAS analysis in 74 european ancestry cases//824 european ancestry controls(p-value = 1E-6 ;OR = 34.08). 0.4 Genome-Wide Association Study Identifies Novel Loci Associated With Diisocyanate-Induced Occupational Asthma. NCRV0000000693 27863252 NONHSAT206588.1 rs55713716 A N/A 172,378 european ancestry individuals EFO_0007991 N/A Associate Eosinophil percentage of white cells rs55713716-A of NONHSAT206588.1 is significantly associated with the eosinophil percentage of white cells by using GWAS analysis in 172,378 european ancestry individuals(p-value = 7E-21 ;OR = 0.04688527). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003076 22823124 NONHSAT176778.1 rs9900808 A N/A 10,091 individuals from 4,622 families EFO_0003890 N/A Associate Cannabis use (initiation) rs9900808-A of NONHSAT176778.1 is significantly associated with the cannabis use (initiation) by using GWAS analysis in 10,091 individuals from 4,622 families(p-value = 2E-6 ;OR = 0.082). 0.4 The genetic aetiology of cannabis use initiation: a meta-analysis of genome-wide association studies and a SNP-based heritability estimation. NCRV0000002548 27863252 NONHSAT206588.1 rs55713716 A N/A 170,672 european ancestry individuals EFO_0007994 N/A Associate Neutrophil percentage of granulocytes rs55713716-A of NONHSAT206588.1 is significantly associated with the neutrophil percentage of granulocytes by using GWAS analysis in 170,672 european ancestry individuals(p-value = 6E-19 ;OR = 0.04471118). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002666 20139978 NONHSAT030736.2 rs739496 A N/A 14,806 japanese ancestry individuals EFO_0004309 N/A Associate Platelet count rs739496-A of NONHSAT030736.2 is significantly associated with the platelet count by using GWAS analysis in 14,806 japanese ancestry individuals(p-value = 5E-19 ;OR = 0.141). 0.4 Genome-wide association study of hematological and biochemical traits in a Japanese population. NCRV0000003269 27863252 NONHSAT206588.1 rs55713716 A N/A 170,536 european ancestry individuals EFO_0007996 N/A Associate Eosinophil percentage of granulocytes rs55713716-A of NONHSAT206588.1 is significantly associated with the eosinophil percentage of granulocytes by using GWAS analysis in 170,536 european ancestry individuals(p-value = 1E-19 ;OR = 0.04562594). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000391 24097068 NONHSAT067101.2 rs492602 G N/A 94,595 european ancestry individuals; 93,982 european ancestry individuals EFO_0000319 N/A Associate Cholesterol//total rs492602-G of NONHSAT067101.2 is significantly associated with the cholesterol//total by using GWAS analysis in 94,595 european ancestry individuals; 93,982 european ancestry individuals(p-value = 1E-16 ;OR = 0.031). 0.4 Discovery and refinement of loci associated with lipid levels. NCRV0000002262 26621817 NONHSAT023343.2 rs11607499 T N/A 5,725 european ancestry colorectal carcinoma cases//2,212 european ancestry endometrial carcinoma cases//13,396 european ancestry controls EFO_0005842 N/A Associate Colorectal or endometrial cancer rs11607499-T of NONHSAT023343.2 is significantly associated with the colorectal or endometrial cancer by using GWAS analysis in 5,725 european ancestry colorectal carcinoma cases//2,212 european ancestry endometrial carcinoma cases//13,396 european ancestry controls(p-value = 2E-6 ;OR = 1.27). 0.4 Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1. NCRV0000000634 25056061 NONHSAT177845.1 rs72934570 C N/A 32,405 european ancestry cases//42,221 european ancestry controls//1,235 european ancestry cases and 1,235 european ancestry controls from 1235 parent-offspring trios//1,836 east asian ancestry cases//3,383 east asian ancestry controls; 1,513 european ancestry cases//66,236 european ancestry controls EFO_0000692 N/A Associate Schizophrenia rs72934570-C of NONHSAT177845.1 is significantly associated with the schizophrenia by using GWAS analysis in 32,405 european ancestry cases//42,221 european ancestry controls//1,235 european ancestry cases and 1,235 european ancestry controls from 1235 parent-offspring trios//1,836 east asian ancestry cases//3,383 east asian ancestry controls; 1,513 european ancestry cases//66,236 european ancestry controls(p-value = 2E-11 ;OR = 1.1454753). 0.4 Biological insights from 108 schizophrenia-associated genetic loci. NCRV0000000993 28928442 NONHSAT210846.1 rs185225639 ? N/A 17,457 european ancestry cases//68,446 european ancestry controls EFO_0008403 N/A Associate Mononucleosis rs185225639-? of NONHSAT210846.1 is significantly associated with the mononucleosis by using GWAS analysis in 17,457 european ancestry cases//68,446 european ancestry controls(p-value = 5E-6 ;OR = 6.6905). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. NCRV0000000948 27723757 NONHSAT179881.1 rs2304206 G N/A 2,853 european ancestry cases and 37,405 european ancestry controls; 1,827 european ancestry cases and 2,181 european ancestry controls EFO_0004208 N/A Associate Vitiligo rs2304206-G of NONHSAT179881.1 is significantly associated with the vitiligo by using GWAS analysis in 2,853 european ancestry cases and 37,405 european ancestry controls; 1,827 european ancestry cases and 2,181 european ancestry controls(p-value = 2E-9 ;OR = 1.1870846). 0.4 Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants. NCRV0000001747 20101243 NONHSAT165888.1 rs9543325 C N/A 3,851 european//chinese and other ancestry cases//3,934 european//chinese and other ancestry controls EFO_0002618 N/A Associate Pancreatic cancer rs9543325-C of NONHSAT165888.1 is significantly associated with the pancreatic cancer by using GWAS analysis in 3,851 european//chinese and other ancestry cases//3,934 european//chinese and other ancestry controls(p-value = 3E-11 ;OR = 1.26). 0.4 A genome-wide association study identifies pancreatic cancer susceptibility loci on chromosomes 13q22.1, 1q32.1 and 5p15.33. NCRV0000000320 28282560 NONHSAT212885.1 rs77300744 A N/A 7,189 european ancestry individuals EFO_0006501 N/A Associate Carotid plaque burden rs77300744-A of NONHSAT212885.1 is significantly associated with the carotid plaque burden by using GWAS analysis in 7,189 european ancestry individuals(p-value = 5E-6 ;OR = 0.44842723). 0.4 Genome-wide meta-analysis identifies novel loci of plaque burden in carotid artery. NCRV0000003639 25524916 NONHSAT188123.1 rs11683087 ? N/A up to 4,176 mexican american individuals EFO_0001360 N/A Associate Glucose homeostasis traits rs11683087-? of NONHSAT188123.1 is significantly associated with the glucose homeostasis traits by using GWAS analysis in up to 4,176 mexican american individuals(p-value = 7E-7 ;OR = 20.54). 0.4 Genetic Variants Associated With Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium. NCRV0000003209 25056061 NONHSAT187912.1 rs59979824 C N/A 32,405 european ancestry cases//42,221 european ancestry controls//1,235 european ancestry cases and 1,235 european ancestry controls from 1235 parent-offspring trios//1,836 east asian ancestry cases//3,383 east asian ancestry controls; 1,513 european ancestry cases//66,236 european ancestry controls EFO_0000692 N/A Associate Schizophrenia rs59979824-C of NONHSAT187912.1 is significantly associated with the schizophrenia by using GWAS analysis in 32,405 european ancestry cases//42,221 european ancestry controls//1,235 european ancestry cases and 1,235 european ancestry controls from 1235 parent-offspring trios//1,836 east asian ancestry cases//3,383 east asian ancestry controls; 1,513 european ancestry cases//66,236 european ancestry controls(p-value = 8E-9 ;OR = 1.0672358). 0.4 Biological insights from 108 schizophrenia-associated genetic loci. NCRV0000002794 20834067 NONHSAT199111.1 rs6813479 ? N/A 1,173 individuals EFO_0004300 N/A Associate Longevity rs6813479-? of NONHSAT199111.1 is significantly associated with the longevity by using GWAS analysis in 1,173 individuals(p-value = 1E-6 ;OR = ?). 0.4 Joint influence of small-effect genetic variants on human longevity. NCRV0000003405 20935630 NONHSAT172828.1 rs7359397 T N/A up to 123,865 european ancestry individuals; up to 125,931 european ancestry individuals EFO_0001073 N/A Associate Body mass index rs7359397-T of NONHSAT172828.1 is significantly associated with the body mass index by using GWAS analysis in up to 123,865 european ancestry individuals; up to 125,931 european ancestry individuals(p-value = 2E-20 ;OR = 0.15). 0.4 Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. NCRV0000001210 26965516 NONHSAT216396.1 rs6983267 G N/A 4,508 east asian ancestry cases//16,588 east asian ancestry controls; 11,044 east asian ancestry cases//18,036 east asian ancestry controls EFO_0005842 N/A Associate Colorectal cancer rs6983267-G of NONHSAT216396.1 is significantly associated with the colorectal cancer by using GWAS analysis in 4,508 east asian ancestry cases//16,588 east asian ancestry controls; 11,044 east asian ancestry cases//18,036 east asian ancestry controls(p-value = 5E-14 ;OR = 1.14). 0.4 Identification of Susceptibility Loci and Genes for Colorectal Cancer Risk. NCRV0000000773 26634245 NONHSAT034223.2 rs148788110 C N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs148788110-C of NONHSAT034223.2 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 2E-7 ;OR = 0.086). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000000938 28928442 NONHSAT163930.1 rs5742621 ? N/A 31,227 european ancestry cases//54,153 european ancestry controls EFO_0008404 N/A Associate Mumps rs5742621-? of NONHSAT163930.1 is significantly associated with the mumps by using GWAS analysis in 31,227 european ancestry cases//54,153 european ancestry controls(p-value = 7E-6 ;OR = 1.2171). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. NCRV0000000153 28604730 NONHSAT171740.1 rs11855650 T N/A 11,273 european ancestry cases// 55,483 european ancestry controls EFO_0000571 N/A Associate Lung adenocarcinoma rs11855650-T of NONHSAT171740.1 is significantly associated with the lung adenocarcinoma by using GWAS analysis in 11,273 european ancestry cases// 55,483 european ancestry controls(p-value = 6E-7 ;OR = 1.0864811). 0.4 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. NCRV0000002024 27863252 NONHSAT152168.1 rs34754277 C N/A 170,548 european ancestry individuals EFO_0007986 N/A Associate Immature fraction of reticulocytes rs34754277-C of NONHSAT152168.1 is significantly associated with the immature fraction of reticulocytes by using GWAS analysis in 170,548 european ancestry individuals(p-value = 6E-15 ;OR = 0.03711069). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003229 28120872 NONHSAT173368.1 rs1364121 A N/A 66 han chinese ancestry non-responder cases//160 han chinese ancestry responder cases; 79 han chinese ancestry non-responder cases//291 han chinese ancestry responder cases EFO_0001061 platinum-based neoadjuvant chemotherapy Associate Response to platinum-based neoadjuvant chemotherapy in cervical cancer rs1364121-A of NONHSAT173368.1 is significantly associated with the response to platinum-based neoadjuvant chemotherapy in cervical cancer by using GWAS analysis in 66 han chinese ancestry non-responder cases//160 han chinese ancestry responder cases; 79 han chinese ancestry non-responder cases//291 han chinese ancestry responder cases(p-value = 3E-6 ;OR = 1.98). 0.4 Genome-wide association study identifies four SNPs associated with response to platinum-based neoadjuvant chemotherapy for cervical cancer. NCRV0000001780 27863252 NONHSAT190536.1 rs779314480 C N/A 164,454 european ancestry individuals EFO_0004584 N/A Associate Mean platelet volume rs779314480-C of NONHSAT190536.1 is significantly associated with the mean platelet volume by using GWAS analysis in 164,454 european ancestry individuals(p-value = 4E-34 ;OR = 0.04692771). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001874 26831199 NONHSAT140921.2 rs12917707 T N/A 11,522 european ancestry individuals; 4,955 european ancestry individuals EFO_0003884 N/A Associate Glomerular filtration rate in diabetics (creatinine) rs12917707-T of NONHSAT140921.2 is significantly associated with the glomerular filtration rate in diabetics (creatinine) by using GWAS analysis in 11,522 european ancestry individuals; 4,955 european ancestry individuals(p-value = 2E-8 ;OR = 0.0266). 0.4 Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function. NCRV0000002776 25673413 NONHSAT186760.1 rs10182181 G N/A up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals EFO_0001073 N/A Associate Body mass index rs10182181-G of NONHSAT186760.1 is significantly associated with the body mass index by using GWAS analysis in up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals(p-value = 9E-24 ;OR = 0.031). 0.4 Genetic studies of body mass index yield new insights for obesity biology. NCRV0000002673 28240269 NONHSAT006299.2 rs13294 A N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008126 N/A Associate Blood protein levels rs13294-A of NONHSAT006299.2 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 8E-102 ;OR = 0.8493). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. NCRV0000001123 28067908 NONHSAT191834.1 rs2836878 ? N/A 25,042 european and unknown ancestry cases//34,915 european and unknown ancestry controls EFO_0003767 N/A Associate Inflammatory bowel disease rs2836878-? of NONHSAT191834.1 is significantly associated with the inflammatory bowel disease by using GWAS analysis in 25,042 european and unknown ancestry cases//34,915 european and unknown ancestry controls(p-value = 2E-29 ;OR = ?). 0.4 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. NCRV0000000206 26394269 NONHSAT207123.1 rs7774434 C N/A 2,764 european ancestry cases//10,475 european ancestry controls; 3,716 european ancestry cases// 4,261 european ancestry controls EFO_1001486 N/A Associate Primary biliary cholangitis rs7774434-C of NONHSAT207123.1 is significantly associated with the primary biliary cholangitis by using GWAS analysis in 2,764 european ancestry cases//10,475 european ancestry controls; 3,716 european ancestry cases// 4,261 european ancestry controls(p-value = 2E-56 ;OR = 1.68). 0.4 International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways. NCRV0000003434 19330030 NONHSAT173881.1 rs3803662 T N/A 1,145 european ancestry cases//1,142 european ancestry controls; 8,625 european ancestry cases//9,657 european ancestry controls EFO_0000305 N/A Associate Breast cancer rs3803662-T of NONHSAT173881.1 is significantly associated with the breast cancer by using GWAS analysis in 1,145 european ancestry cases//1,142 european ancestry controls; 8,625 european ancestry cases//9,657 european ancestry controls(p-value = 1E-9 ;OR = 1.16). 0.4 A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1). NCRV0000002634 22179738 NONHSAT039509.2 rs2069590 ? N/A 20 han chinese ancestry male gout cases//42 han chinese ancestry male controls EFO_0004274 N/A Associate Gout rs2069590-? of NONHSAT039509.2 is significantly associated with the gout by using GWAS analysis in 20 han chinese ancestry male gout cases//42 han chinese ancestry male controls(p-value = 1E-7 ;OR = ?). 0.4 Gout and type 2 diabetes have a mutual inter-dependent effect on genetic risk factors and higher incidences. NCRV0000003530 28739976 NONHSAT119718.2 rs1859168 C N/A 150,134 european ancestry individuals; 87,359 european ancestry individuals//140,886 european and unknown ancestry individuals EFO_0006336 N/A Associate Diastolic blood pressure rs1859168-C of NONHSAT119718.2 is significantly associated with the diastolic blood pressure by using GWAS analysis in 150,134 european ancestry individuals; 87,359 european ancestry individuals//140,886 european and unknown ancestry individuals(p-value = 1E-8 ;OR = 0.464). 0.4 Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.LID - HYPERTENSIONAHA.117.09438 [pii]LID - 10.1161/HYPERTENSIONAHA.117.09438 [doi]AB - Elevated blood pressure NCRV0000003298 28181694 NONHSAT149780.1 rs10888574 G N/A 488 european ancestry female children//445 european ancestry male children; 245 european ancestry female children//241 european ancestry male children EFO_0007621 N/A Associate Pediatric bone mineral content (hip) rs10888574-G of NONHSAT149780.1 is significantly associated with the pediatric bone mineral content (hip) by using GWAS analysis in 488 european ancestry female children//445 european ancestry male children; 245 european ancestry female children//241 european ancestry male children(p-value = 8E-11 ;OR = 0.263931). 0.4 A Genomewide Association Study Identifies Two Sex-Specific Loci, at SPTB and IZUMO3, Influencing Pediatric Bone Mineral Density at Multiple Skeletal Sites. NCRV0000001484 27863252 NONHSAT078136.2 rs156356 C N/A 164,433 european ancestry individuals EFO_0007984 N/A Associate Platelet distribution width rs156356-C of NONHSAT078136.2 is significantly associated with the platelet distribution width by using GWAS analysis in 164,433 european ancestry individuals(p-value = 1E-12 ;OR = 0.02674022). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001874 19430482 NONHSAT140921.2 rs12917707 G N/A 2,388 european ancestry cases//17,489 european ancestry controls; 1,932 cases//19,534 controls EFO_0003884 N/A Associate Renal function and chronic kidney disease rs12917707-G of NONHSAT140921.2 is significantly associated with the renal function and chronic kidney disease by using GWAS analysis in 2,388 european ancestry cases//17,489 european ancestry controls; 1,932 cases//19,534 controls(p-value = 2E-12 ;OR = 1.25). 0.4 Multiple loci associated with indices of renal function and chronic kidney disease. NCRV0000001171 22903471 NONHSAT149849.1 rs11264736 T N/A 162 european ancestry alzheimer's disease cases//346 european ancestry mild cognitive impairment cases//198 european ancestry controls//639 european ancestry individuals from 364 families EFO_0000249 N/A Associate Lentiform nucleus volume rs11264736-T of NONHSAT149849.1 is significantly associated with the lentiform nucleus volume by using GWAS analysis in 162 european ancestry alzheimer's disease cases//346 european ancestry mild cognitive impairment cases//198 european ancestry controls//639 european ancestry individuals from 364 families(p-value = 4E-6 ;OR = 98.69). 0.4 Genome-wide association identifies genetic variants associated with lentiform nucleus volume in N = 1345 young and elderly subjects. NCRV0000001152 27863252 NONHSAT187222.1 rs72079386 A N/A 171,771 european ancestry individuals EFO_0009389 N/A Associate Sum eosinophil basophil counts rs72079386-A of NONHSAT187222.1 is significantly associated with the sum eosinophil basophil counts by using GWAS analysis in 171,771 european ancestry individuals(p-value = 7E-32 ;OR = 0.04354452). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003743 20713499 NONHSAT192758.1 rs1001021 A N/A 402 european ancestry schizophrenia cases//1,021 european ancestry bipolar i cases//493 european ancestry bipolar ii cases//1,210 european ancestry mdd cases//1,060 european ancestry controls EFO_0000289 N/A Associate Schizophrenia//bipolar disorder and depression (combined) rs1001021-A of NONHSAT192758.1 is significantly associated with the schizophrenia//bipolar disorder and depression (combined) by using GWAS analysis in 402 european ancestry schizophrenia cases//1,021 european ancestry bipolar i cases//493 european ancestry bipolar ii cases//1,210 european ancestry mdd cases//1,060 european ancestry controls(p-value = 2E-6 ;OR = ?). 0.4 Cross-disorder genomewide analysis of schizophrenia, bipolar disorder, and depression. NCRV0000002630 26053186 NONHSAT218148.1 rs77583023 ? N/A 362 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//438 european ancestry current smoker individuals//449 latino current smoker individuals//704 japanese ancestry current smoker individuals EFO_0001071 in smokers Associate 3-hydroxypropylmercapturic acid levels in smokers rs77583023-? of NONHSAT218148.1 is significantly associated with the 3-hydroxypropylmercapturic acid levels in smokers by using GWAS analysis in 362 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//438 european ancestry current smoker individuals//449 latino current smoker individuals//704 japanese ancestry current smoker individuals(p-value = 1E-6 ;OR = 1.125). 0.4 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. NCRV0000002082 20637204 NONHSAT188374.1 rs1127354 A N/A 453 japanese ancestry individuals; 470 japanese ancestry individuals EFO_0004272 N/A Associate Ribavirin-induced anemia rs1127354-A of NONHSAT188374.1 is significantly associated with the ribavirin-induced anemia by using GWAS analysis in 453 japanese ancestry individuals; 470 japanese ancestry individuals(p-value = 4E-44 ;OR = ?). 0.4 ITPA polymorphism affects ribavirin-induced anemia and outcomes of therapy--a genome-wide study of Japanese HCV virus patients. NCRV0000002744 26443449 NONHSAT217969.1 rs1512268 T N/A 3,000 east asian ancestry cases//4,394 east asian ancestry controls; 3,605 east asian ancestry cases//3,919 east asian ancestry controls EFO_0001663 N/A Associate Prostate cancer rs1512268-T of NONHSAT217969.1 is significantly associated with the prostate cancer by using GWAS analysis in 3,000 east asian ancestry cases//4,394 east asian ancestry controls; 3,605 east asian ancestry cases//3,919 east asian ancestry controls(p-value = 1E-13 ;OR = 1.3157895). 0.4 Large-scale association analysis in Asians identifies new susceptibility loci for prostate cancer. NCRV0000003792 28892062 NONHSAT053287.2 rs11651052 G N/A up to 72,390 japanese ancestry women//up to 85,894 japanese ancestry men; up to 10,048 japanese ancestry women//up to 5,098 japanese ancestry men//up to 181,999 european ancestry women//up to 140,155 european ancestry controls EFO_0001073 N/A Associate Body mass index rs11651052-G of NONHSAT053287.2 is significantly associated with the body mass index by using GWAS analysis in up to 72,390 japanese ancestry women//up to 85,894 japanese ancestry men; up to 10,048 japanese ancestry women//up to 5,098 japanese ancestry men//up to 181,999 european ancestry women//up to 140,155 european ancestry controls(p-value = 1E-7 ;OR = 0.027). 0.4 Genome-wide association study identifies 112 new loci for body mass index in the Japanese population. NCRV0000002191 20889312 NONHSAT118775.2 rs6952808 ? N/A 651 european ancestry bipolar cases//1,171 european ancestry schizophrenia cases//2,412 european ancestry controls EFO_0000677 N/A Associate Bipolar disorder and schizophrenia rs6952808-? of NONHSAT118775.2 is significantly associated with the bipolar disorder and schizophrenia by using GWAS analysis in 651 european ancestry bipolar cases//1,171 european ancestry schizophrenia cases//2,412 european ancestry controls(p-value = 2E-6 ;OR = 1.2541). 0.4 A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. NCRV0000003585 22829776 NONHSAT174831.1 rs9901675 A N/A 21,791 european ancestry individuals; 8,175 european ancestry individuals EFO_0004696 N/A Associate Sex hormone-binding globulin levels rs9901675-A of NONHSAT174831.1 is significantly associated with the sex hormone-binding globulin levels by using GWAS analysis in 21,791 european ancestry individuals; 8,175 european ancestry individuals(p-value = 1E-7 ;OR = 0.057). 0.4 A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation. NCRV0000003579 28448500 NONHSAT201188.1 rs13130484 ? N/A 2,518 african american women//86,278 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//55,137 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men EFO_0001073 joint analysis main effects and physical activity interaction Associate Body mass index (joint analysis main effects and physical activity interaction) rs13130484-? of NONHSAT201188.1 is significantly associated with the body mass index (joint analysis main effects and physical activity interaction) by using GWAS analysis in 2,518 african american women//86,278 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//55,137 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men(p-value = 1E-7 ;OR = ?). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. NCRV0000003182 25477429 NONHSAT196716.1 rs5030062 A N/A 5,275 european ancestry individuals EFO_0000319 N/A Associate Plasma renin activity levels rs5030062-A of NONHSAT196716.1 is significantly associated with the plasma renin activity levels by using GWAS analysis in 5,275 european ancestry individuals(p-value = 9E-9 ;OR = ?). 0.4 Genome-wide meta-analyses of plasma renin activity and concentration reveal association with the kininogen 1 and prekallikrein genes. NCRV0000003258 27863252 NONHSAT211335.1 rs2451279 G N/A 170,143 european ancestry individuals EFO_0009390 N/A Associate Sum basophil neutrophil counts rs2451279-G of NONHSAT211335.1 is significantly associated with the sum basophil neutrophil counts by using GWAS analysis in 170,143 european ancestry individuals(p-value = 4E-12 ;OR = 0.02611341). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000596 28892062 NONHSAT224318.1 rs5945324 C N/A up to 72,390 japanese ancestry women//up to 85,894 japanese ancestry men; up to 10,048 japanese ancestry women//up to 5,098 japanese ancestry men//up to 181,999 european ancestry women//up to 140,155 european ancestry controls EFO_0001073 N/A Associate Body mass index rs5945324-C of NONHSAT224318.1 is significantly associated with the body mass index by using GWAS analysis in up to 72,390 japanese ancestry women//up to 85,894 japanese ancestry men; up to 10,048 japanese ancestry women//up to 5,098 japanese ancestry men//up to 181,999 european ancestry women//up to 140,155 european ancestry controls(p-value = 1E-11 ;OR = 0.022). 0.4 Genome-wide association study identifies 112 new loci for body mass index in the Japanese population. NCRV0000003228 28604730 NONHSAT151500.1 rs3754287 T N/A 7,426 european ancestry cases//55,627 european ancestry controls EFO_0000708 N/A Associate Squamous cell lung carcinoma rs3754287-T of NONHSAT151500.1 is significantly associated with the squamous cell lung carcinoma by using GWAS analysis in 7,426 european ancestry cases//55,627 european ancestry controls(p-value = 2E-6 ;OR = 1.1387107). 0.4 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. NCRV0000000978 28181694 NONHSAT164363.1 rs17786035 G N/A 488 european ancestry female children//445 european ancestry male children; 245 european ancestry female children//241 european ancestry male children EFO_0007701 N/A Associate Pediatric bone mineral density (spine) rs17786035-G of NONHSAT164363.1 is significantly associated with the pediatric bone mineral density (spine) by using GWAS analysis in 488 european ancestry female children//445 european ancestry male children; 245 european ancestry female children//241 european ancestry male children(p-value = 7E-7 ;OR = 0.351513). 0.4 A Genomewide Association Study Identifies Two Sex-Specific Loci, at SPTB and IZUMO3, Influencing Pediatric Bone Mineral Density at Multiple Skeletal Sites. NCRV0000002076 22589738 NONHSAT184092.1 rs10495537 T N/A 5,560 european ancestry female individuals//4,997 european ancestry male individuals EFO_0004765 adjusted for BMI Associate Visceral adipose tissue adjusted for bmi rs10495537-T of NONHSAT184092.1 is significantly associated with the visceral adipose tissue adjusted for bmi by using GWAS analysis in 5,560 european ancestry female individuals//4,997 european ancestry male individuals(p-value = 5E-7 ;OR = ?). 0.4 Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. NCRV0000002995 23535729 NONHSAT159884.1 rs11820646 C N/A 10,052 european ancestry cases//12,575 european ancestry controls; 45,290 european ancestry cases//41,880 european ancestry controls EFO_0000305 N/A Associate Breast cancer rs11820646-C of NONHSAT159884.1 is significantly associated with the breast cancer by using GWAS analysis in 10,052 european ancestry cases//12,575 european ancestry controls; 45,290 european ancestry cases//41,880 european ancestry controls(p-value = 1E-9 ;OR = 1.05). 0.4 Large-scale genotyping identifies 41 new loci associated with breast cancer risk. NCRV0000001191 28240269 NONHSAT083187.2 rs3827278 A N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008175 N/A Associate Blood protein levels rs3827278-A of NONHSAT083187.2 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 2E-93 ;OR = 0.975). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. NCRV0000003622 24837172 NONHSAT108921.2 rs1063355 A N/A 603 north indian ancestry cases//622 north indian ancestry controls; 733 north indian ancestry cases//1,148 north indian ancestry controls EFO_0000729 N/A Associate Ulcerative colitis rs1063355-A of NONHSAT108921.2 is significantly associated with the ulcerative colitis by using GWAS analysis in 603 north indian ancestry cases//622 north indian ancestry controls; 733 north indian ancestry cases//1,148 north indian ancestry controls(p-value = 2E-6 ;OR = 1.43). 0.4 Genome-wide association scan in north Indians reveals three novel HLA-independent risk loci for ulcerative colitis. NCRV0000000066 26785701 NONHSAT210397.1 rs5020946 T N/A up to 39,869 east asian individuals; up to 20,137 east asian individuals//up to 209,947 individuals EFO_0007788 N/A Associate Waist-to-hip ratio adjusted for body mass index rs5020946-T of NONHSAT210397.1 is significantly associated with the waist-to-hip ratio adjusted for body mass index by using GWAS analysis in up to 39,869 east asian individuals; up to 20,137 east asian individuals//up to 209,947 individuals(p-value = 4E-8 ;OR = 0.03568). 0.4 Genome-wide association studies in East Asians identify new loci for waist-hip ratio and waist circumference. NCRV0000000366 26634245 NONHSAT202771.1 rs188526878 T N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs188526878-T of NONHSAT202771.1 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 2E-6 ;OR = 0.69). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000002891 28030426 NONHSAT176536.1 rs9897443 ? N/A 972 european ancestry intolerant individuals//4,189 european ancestry tolerant individuals EFO_0005325 N/A Associate Angiotensin-converting enzyme inhibitor intolerance rs9897443-? of NONHSAT176536.1 is significantly associated with the angiotensin-converting enzyme inhibitor intolerance by using GWAS analysis in 972 european ancestry intolerant individuals//4,189 european ancestry tolerant individuals(p-value = 9E-6 ;OR = 1.2877936). 0.4 Meta-analysis of genome-wide association studies on the intolerance of angiotensin-converting enzyme inhibitors. NCRV0000001593 28394258 NONHSAT054304.2 rs10514928 T N/A 30,201 european ancestry individuals EFO_0003777 N/A Associate Left atrial antero-posterior diameter rs10514928-T of NONHSAT054304.2 is significantly associated with the left atrial antero-posterior diameter by using GWAS analysis in 30,201 european ancestry individuals(p-value = 2E-6 ;OR = 0.0397). 0.4 Large-scale genome-wide analysis identifies genetic variants associated with cardiac structure and function. NCRV0000003411 28820441 NONHSAT093206.2 rs7611820 ? N/A 2,703 individuals EFO_0000319 N/A Associate Monocyte chemoattractant protein-1 (red blood cell fatty acid level interaction) rs7611820-? of NONHSAT093206.2 is significantly associated with the monocyte chemoattractant protein-1 (red blood cell fatty acid level interaction) by using GWAS analysis in 2,703 individuals(p-value = 5E-10 ;OR = 1.3171505). 0.4 Genome-Wide Interaction Study of Omega-3 PUFAs and Other Fatty Acids on Inflammatory Biomarkers of Cardiovascular Health in the Framingham Heart Study.LID - E900 [pii]LID - 10.3390/nu9080900 [doi]AB - Numerous genetic loci have been identified NCRV0000001309 23251661 NONHSAT219644.1 rs10125737 A N/A 815 hispanic children from 263 families EFO_0003940 N/A Associate Obesity-related traits rs10125737-A of NONHSAT219644.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 6E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. NCRV0000003181 25673413 NONHSAT127778.2 rs12680842 A N/A up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals EFO_0001073 N/A Associate Body mass index rs12680842-A of NONHSAT127778.2 is significantly associated with the body mass index by using GWAS analysis in up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals(p-value = 3E-6 ;OR = 0.015). 0.4 Genetic studies of body mass index yield new insights for obesity biology. NCRV0000001243 26053186 NONHSAT104496.2 rs78823151 ? N/A 362 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//438 european ancestry current smoker individuals//449 latino current smoker individuals//704 japanese ancestry current smoker individuals EFO_0001071 in smokers Associate 3-hydroxypropylmercapturic acid levels in smokers rs78823151-? of NONHSAT104496.2 is significantly associated with the 3-hydroxypropylmercapturic acid levels in smokers by using GWAS analysis in 362 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//438 european ancestry current smoker individuals//449 latino current smoker individuals//704 japanese ancestry current smoker individuals(p-value = 8E-6 ;OR = 0.6201). 0.4 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. NCRV0000003492 19734901 NONHSAT130617.2 rs2814707 ? N/A 2,323 european ancestry cases//9,013 european ancestry controls; 2,532 european ancestry cases//5,940 european ancestry controls EFO_0000253 N/A Associate Amyotrophic lateral sclerosis rs2814707-? of NONHSAT130617.2 is significantly associated with the amyotrophic lateral sclerosis by using GWAS analysis in 2,323 european ancestry cases//9,013 european ancestry controls; 2,532 european ancestry cases//5,940 european ancestry controls(p-value = 7E-9 ;OR = 1.22). 0.4 Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. NCRV0000000379 28135244 NONHSAT115068.2 rs34931156 ? N/A 140,886 european ancestry individuals; 190,318 european ancestry individuals EFO_0006336 N/A Associate Diastolic blood pressure rs34931156-? of NONHSAT115068.2 is significantly associated with the diastolic blood pressure by using GWAS analysis in 140,886 european ancestry individuals; 190,318 european ancestry individuals(p-value = 9E-6 ;OR = 0.1575). 0.4 Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk. NCRV0000000078 27015805 NONHSAT221382.1 rs118142265 ? N/A 52,776 middle-aged british individuals EFO_0007796 N/A Associate Parental longevity (mother's age at death) rs118142265-? of NONHSAT221382.1 is significantly associated with the parental longevity (mother's age at death) by using GWAS analysis in 52,776 middle-aged british individuals(p-value = 9E-7 ;OR = 0.11033). 0.4 Human longevity is influenced by many genetic variants: evidence from 75,000 UK Biobank participants. NCRV0000000765 29213071 NONHSAT017523.2 rs78695585 A N/A 15,997 hispanic/latino individuals EFO_0004278 N/A Associate Qt interval rs78695585-A of NONHSAT017523.2 is significantly associated with the qt interval by using GWAS analysis in 15,997 hispanic/latino individuals(p-value = 3E-9 ;OR = 3.48). 0.4 GWAS of the electrocardiographic QT interval in Hispanics/Latinos generalizes previously identified loci and identifies population-specific signals. NCRV0000002348 23648065 NONHSAT164697.1 rs894734 G N/A 294 japanese ancestry cases//2,249 japanese ancestry controls DOID_1227 all antimetabolite drugs Associate Adverse response to chemotherapy (neutropenia/leucopenia) rs894734-G of NONHSAT164697.1 is significantly associated with the adverse response to chemotherapy (neutropenia/leucopenia) by using GWAS analysis in 294 japanese ancestry cases//2,249 japanese ancestry controls(p-value = 4E-6 ;OR = 1.619). 0.4 Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan. NCRV0000001267 24578125 NONHSAT172748.1 rs12446492 A N/A 10,884 european ancestry individuals EFO_0005663 N/A Associate Urinary uromodulin levels rs12446492-A of NONHSAT172748.1 is significantly associated with the urinary uromodulin levels by using GWAS analysis in 10,884 european ancestry individuals(p-value = 6E-27 ;OR = 0.15). 0.4 Common variants in UMOD associate with urinary uromodulin levels: a meta-analysis. NCRV0000003819 27863252 NONHSAT187909.1 rs7585866 G N/A 164,454 european ancestry individuals EFO_0004584 N/A Associate Mean platelet volume rs7585866-G of NONHSAT187909.1 is significantly associated with the mean platelet volume by using GWAS analysis in 164,454 european ancestry individuals(p-value = 3E-32 ;OR = 0.04484708). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003652 28429243 NONHSAT024999.2 rs7105310 G N/A 707 european ancestry postmenopausal cases//52 african ancestry postmenopausal cases//15 asian ancestry postmenopausal cases EFO_1000649 N/A Associate Estrone/androstenedione ratio in resected early stage-receptor positive breast cancer rs7105310-G of NONHSAT024999.2 is significantly associated with the estrone/androstenedione ratio in resected early stage-receptor positive breast cancer by using GWAS analysis in 707 european ancestry postmenopausal cases//52 african ancestry postmenopausal cases//15 asian ancestry postmenopausal cases(p-value = 7E-6 ;OR = 0.3841). 0.4 SLCO1B1 polymorphisms and plasma estrone conjugates in postmenopausal women with ER+ breast cancer: genome-wide association studies of the estrone pathway. NCRV0000003143 24839885 NONHSAT106965.2 rs2272990 T N/A 3,121 european ancestry individuals//1,475 children from 1,031 families EFO_0005661 N/A Associate Preschool internalizing problems rs2272990-T of NONHSAT106965.2 is significantly associated with the preschool internalizing problems by using GWAS analysis in 3,121 european ancestry individuals//1,475 children from 1,031 families(p-value = 5E-7 ;OR = 0.39). 0.4 A genome-wide association meta-analysis of preschool internalizing problems. NCRV0000002708 21102463 NONHSAT003779.2 rs11209026 G N/A 6,333 european ancestry cases//15,056 european ancestry controls; 15,694 european ancestry cases//14,026 european ancestry controls//414 european ancestry trios EFO_0000384 N/A Associate Crohn's disease rs11209026-G of NONHSAT003779.2 is significantly associated with the crohn's disease by using GWAS analysis in 6,333 european ancestry cases//15,056 european ancestry controls; 15,694 european ancestry cases//14,026 european ancestry controls//414 european ancestry trios(p-value = 1E-64 ;OR = 2.66). 0.4 Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. NCRV0000002274 28928442 NONHSAT156047.1 rs142995252 ? N/A 31,227 european ancestry cases//54,153 european ancestry controls EFO_0008404 N/A Associate Mumps rs142995252-? of NONHSAT156047.1 is significantly associated with the mumps by using GWAS analysis in 31,227 european ancestry cases//54,153 european ancestry controls(p-value = 6E-6 ;OR = 0.9163). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. NCRV0000002055 26631737 NONHSAT022909.2 rs10899033 C N/A up to 54,116 european ancestry cases HP_0012594 N/A Associate Microalbuminuria rs10899033-C of NONHSAT022909.2 is significantly associated with the microalbuminuria by using GWAS analysis in up to 54,116 european ancestry cases(p-value = 9E-6 ;OR = 0.11). 0.4 Genome-wide Association Studies Identify Genetic Loci Associated With Albuminuria in Diabetes. NCRV0000001415 22493691 NONHSAT002478.2 rs3748682 T N/A 3,736 european ancestry cases//35,546 european ancestry controls EFO_0004705 N/A Associate Hypothyroidism rs3748682-T of NONHSAT002478.2 is significantly associated with the hypothyroidism by using GWAS analysis in 3,736 european ancestry cases//35,546 european ancestry controls(p-value = 9E-6 ;OR = 1.19). 0.4 Novel associations for hypothyroidism include known autoimmune risk loci. NCRV0000002873 28441456 NONHSAT157499.1 rs10884984 T N/A 2,187 european ancestry individuals EFO_0007841 N/A Associate Facial morphology (factor 22) rs10884984-T of NONHSAT157499.1 is significantly associated with the facial morphology (factor 22) by using GWAS analysis in 2,187 european ancestry individuals(p-value = 5E-6 ;OR = 0.1631). 0.4 Genome-wide association study of facial morphology reveals novel associations with FREM1 and PARK2. NCRV0000003149 23266558 NONHSAT108734.2 rs3094188 C N/A 372 japanese ancestry cases,3,389 japanese ancestry controls; up to 1,151 japanese ancestry cases//up to 15,800 japanese ancestry controls EFO_0000384 N/A Associate Crohn's disease rs3094188-C of NONHSAT108734.2 is significantly associated with the crohn's disease by using GWAS analysis in 372 japanese ancestry cases,3,389 japanese ancestry controls; up to 1,151 japanese ancestry cases//up to 15,800 japanese ancestry controls(p-value = 7E-7 ;OR = 1.61). 0.4 A genome-wide association study identifies 2 susceptibility Loci for Crohn's disease in a Japanese population. NCRV0000003810 27863252 NONHSAT000786.2 rs79412885 A N/A 170,494 european ancestry individuals EFO_0007989 N/A Associate Monocyte percentage of white cells rs79412885-A of NONHSAT000786.2 is significantly associated with the monocyte percentage of white cells by using GWAS analysis in 170,494 european ancestry individuals(p-value = 8E-14 ;OR = 0.05139473). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002287 21909115 NONHSAT108210.2 rs1799945 G N/A 69,395 european ancestry individuals; up to 133,361 european ancestry individuals EFO_0000537 N/A Associate Hypertension rs1799945-G of NONHSAT108210.2 is significantly associated with the hypertension by using GWAS analysis in 69,395 european ancestry individuals; up to 133,361 european ancestry individuals(p-value = 2E-10 ;OR = 0.095). 0.4 Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. NCRV0000000058 25751625 NONHSAT182525.1 rs4849887 C N/A 15,748 european ancestry cases//18,084 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls EFO_0000305 N/A Associate Breast cancer rs4849887-C of NONHSAT182525.1 is significantly associated with the breast cancer by using GWAS analysis in 15,748 european ancestry cases//18,084 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls(p-value = 2E-11 ;OR = 1.098901). 0.4 Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer. NCRV0000000082 26343387 NONHSAT115003.2 rs12202017 A N/A 42,096 european ancestry cases//361 african american cases//758 hispanic american cases//12,658 south asian ancestry cases//1,802 lebanese ancestry cases//3,614 east asian ancestry cases//99,121 european ancestry controls//2,778 african american controls//3,337 hispanic american controls//12,899 south asian ancestry controls//466 lebanese ancestry controls//7,709 east asian ancestry controls EFO_0000378 N/A Associate Coronary artery disease rs12202017-A of NONHSAT115003.2 is significantly associated with the coronary artery disease by using GWAS analysis in 42,096 european ancestry cases//361 african american cases//758 hispanic american cases//12,658 south asian ancestry cases//1,802 lebanese ancestry cases//3,614 east asian ancestry cases//99,121 european ancestry controls//2,778 african american controls//3,337 hispanic american controls//12,899 south asian ancestry controls//466 lebanese ancestry controls//7,709 east asian ancestry controls(p-value = 2E-11 ;OR = 1.07). 0.4 A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease. NCRV0000001133 26776603 NONHSAT207623.1 rs284515 G N/A 31 japanese ancestry mild cases//282 japanese ancestry moderate cases//131 japanese ancestry severe cases EFO_0000685 N/A Associate Response to anti-tnf therapy in rheumatoid arthritis rs284515-G of NONHSAT207623.1 is significantly associated with the response to anti-tnf therapy in rheumatoid arthritis by using GWAS analysis in 31 japanese ancestry mild cases//282 japanese ancestry moderate cases//131 japanese ancestry severe cases(p-value = 7E-7 ;OR = 0.35). 0.4 A longitudinal genome-wide association study of anti-tumor necrosis factor response among Japanese patients with rheumatoid arthritis. NCRV0000001919 23362303 NONHSAT157277.1 rs12098564 A N/A 8,961 european ancestry individuals; EFO_0001645 N/A Associate Stearic acid (18:0) levels rs12098564-A of NONHSAT157277.1 is significantly associated with the stearic acid (18:0) levels by using GWAS analysis in 8,961 european ancestry individuals; (p-value = 4E-7 ;OR = 0.435). 0.4 Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium. NCRV0000000781 23251661 NONHSAT214837.1 rs10487245 A N/A 815 hispanic children from 263 families EFO_0004735 N/A Associate Obesity-related traits rs10487245-A of NONHSAT214837.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 2E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. NCRV0000000853 23251661 NONHSAT214837.1 rs10487245 A N/A 815 hispanic children from 263 families EFO_0004736 N/A Associate Obesity-related traits rs10487245-A of NONHSAT214837.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 2E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. NCRV0000002540 26634245 NONHSAT159598.1 rs737693 A N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs737693-A of NONHSAT159598.1 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 9E-7 ;OR = 0.073). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000000049 24709693 NONHSAT216442.1 rs10956445 C N/A 694 european ancestry child cases EFO_0002609 methotrexate Associate Response to methotrexate in juvenile idiopathic arthritis rs10956445-C of NONHSAT216442.1 is significantly associated with the response to methotrexate in juvenile idiopathic arthritis by using GWAS analysis in 694 european ancestry child cases(p-value = 5E-7 ;OR = 2.73). 0.4 Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases. NCRV0000001043 28416818 NONHSAT198931.1 rs6843082 G N/A 7,323 european ancestry cases//102,776 european ancestry controls.; EFO_0000275 N/A Associate Atrial fibrillation rs6843082-G of NONHSAT198931.1 is significantly associated with the atrial fibrillation by using GWAS analysis in 7,323 european ancestry cases//102,776 european ancestry controls.; (p-value = 3E-155 ;OR = 1.45). 0.4 Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation. NCRV0000002328 28540026 NONHSAT148332.1 rs301798 ? N/A up to 6,197 european ancestry asd cases//up to 7,377 european ancestry controls//up to 1,190 asd cases//up to 1,190 controls EFO_0003756 N/A Associate Autism spectrum disorder rs301798-? of NONHSAT148332.1 is significantly associated with the autism spectrum disorder by using GWAS analysis in up to 6,197 european ancestry asd cases//up to 7,377 european ancestry controls//up to 1,190 asd cases//up to 1,190 controls(p-value = 7E-9 ;OR = 1.0638298). 0.4 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. NCRV0000003028 28928442 NONHSAT096235.2 rs77790617 ? N/A 4,426 european ancestry cases//84,290 european ancestry controls EFO_0008407 N/A Associate Tuberculosis rs77790617-? of NONHSAT096235.2 is significantly associated with the tuberculosis by using GWAS analysis in 4,426 european ancestry cases//84,290 european ancestry controls(p-value = 4E-7 ;OR = 1.9662). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. NCRV0000003339 26390057 NONHSAT060414.2 rs740406 A N/A 31,516 east asian ancestry individuals// 35,352 european ancestry individuals//33,126 south asian ancestry individuals; 87,205 individuals//48,268 east asian ancestry individuals//68,456 european ancestry individuals and 16,328 south asian ancestry individuals EFO_0005763 N/A Associate Pulse pressure rs740406-A of NONHSAT060414.2 is significantly associated with the pulse pressure by using GWAS analysis in 31,516 east asian ancestry individuals// 35,352 european ancestry individuals//33,126 south asian ancestry individuals; 87,205 individuals//48,268 east asian ancestry individuals//68,456 european ancestry individuals and 16,328 south asian ancestry individuals(p-value = 3E-15 ;OR = 0.5495422). 0.4 Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation. NCRV0000001160 19151714 NONHSAT157953.1 rs10508503 C N/A 695 european ancestry adult cases//731 european ancestry adult controls//685 european ancestry child cases//685 european ancestry child controls; 1,171 european ancestry adult cases//1,114 european ancestry adult controls//4,417 european ancestry adults//896 european ancestry child cases//1,297 european ancestry child and young adult controls//5,291 european ancestry children EFO_0001073 N/A Associate Obesity rs10508503-C of NONHSAT157953.1 is significantly associated with the obesity by using GWAS analysis in 695 european ancestry adult cases//731 european ancestry adult controls//685 european ancestry child cases//685 european ancestry child controls; 1,171 european ancestry adult cases//1,114 european ancestry adult controls//4,417 european ancestry adults//896 european ancestry child cases//1,297 european ancestry child and young adult controls//5,291 european ancestry children(p-value = 2E-7 ;OR = ?). 0.4 Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations. NCRV0000003664 21685187 NONHSAT189418.1 rs6136813 T N/A 3,397 european ancestry cases EFO_0005670 N/A Associate Age at smoking initiation in chronic obstructive pulmonary disease rs6136813-T of NONHSAT189418.1 is significantly associated with the age at smoking initiation in chronic obstructive pulmonary disease by using GWAS analysis in 3,397 european ancestry cases(p-value = 3E-6 ;OR = 0.043). 0.4 Genome-wide association study of smoking behaviours in patients with COPD. NCRV0000000541 21208937 NONHSAT108210.2 rs1799945 C N/A up to 5,633 european ancestry individuals; up to 3,457 european ancestry individuals EFO_0006334 N/A Associate Iron status biomarkers rs1799945-C of NONHSAT108210.2 is significantly associated with the iron status biomarkers by using GWAS analysis in up to 5,633 european ancestry individuals; up to 3,457 european ancestry individuals(p-value = 3E-9 ;OR = 4.95). 0.4 Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels. NCRV0000001655 26634245 NONHSAT097368.2 rs113228472 A N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs113228472-A of NONHSAT097368.2 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 4E-6 ;OR = 0.126). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000002805 26584805 NONHSAT143774.2 rs2288059 T N/A 717 singaporean chinese ancestry myocardial infarction cases//644 singaporean chinese ancestry controls EFO_0007764 N/A Associate Delta-5 desaturase activity rs2288059-T of NONHSAT143774.2 is significantly associated with the delta-5 desaturase activity by using GWAS analysis in 717 singaporean chinese ancestry myocardial infarction cases//644 singaporean chinese ancestry controls(p-value = 6E-6 ;OR = 0.0908). 0.4 A genome-wide association study of n-3 and n-6 plasma fatty acids in a Singaporean Chinese population. NCRV0000000386 27863252 NONHSAT000786.2 rs79412885 A N/A 169,545 european ancestry individuals EFO_0007997 N/A Associate Granulocyte percentage of myeloid white cells rs79412885-A of NONHSAT000786.2 is significantly associated with the granulocyte percentage of myeloid white cells by using GWAS analysis in 169,545 european ancestry individuals(p-value = 7E-13 ;OR = 0.04948829). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001214 27863252 NONHSAT093154.2 rs9811216 C N/A 171,771 european ancestry individuals EFO_0009389 N/A Associate Sum eosinophil basophil counts rs9811216-C of NONHSAT093154.2 is significantly associated with the sum eosinophil basophil counts by using GWAS analysis in 171,771 european ancestry individuals(p-value = 9E-11 ;OR = 0.02646712). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001555 21998595 NONHSAT165535.1 rs6563210 A N/A 20,427 african ancestry individuals; up to 16,436 african american individuals EFO_0004339 N/A Associate Height rs6563210-A of NONHSAT165535.1 is significantly associated with the height by using GWAS analysis in 20,427 african ancestry individuals; up to 16,436 african american individuals(p-value = 7E-7 ;OR = 0.039). 0.4 Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry. NCRV0000002594 24684796 NONHSAT153875.1 rs35214987 G N/A 423 type 2 diabetes cases and 127 unaffected siblings from 257 families EFO_0003925 N/A Associate Cognitive function rs35214987-G of NONHSAT153875.1 is significantly associated with the cognitive function by using GWAS analysis in 423 type 2 diabetes cases and 127 unaffected siblings from 257 families(p-value = 9E-7 ;OR = 3.3262). 0.4 Heritability and genetic association analysis of cognition in the Diabetes Heart Study. NCRV0000003527 25673412 NONHSAT036194.2 rs12885454 A N/A up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women EFO_0004342 N/A Associate Waist circumference rs12885454-A of NONHSAT036194.2 is significantly associated with the waist circumference by using GWAS analysis in up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women(p-value = 1E-6 ;OR = 0.0221). 0.4 New genetic loci link adipose and insulin biology to body fat distribution. NCRV0000001340 28199695 NONHSAT029276.2 rs2906856 T N/A 84,724 european ancestry individuals EFO_0008378 N/A Associate Mosquito bite size rs2906856-T of NONHSAT029276.2 is significantly associated with the mosquito bite size by using GWAS analysis in 84,724 european ancestry individuals(p-value = 1E-12 ;OR = 0.038755). 0.4 GWAS of self-reported mosquito bite size, itch intensity and attractiveness to mosquitoes implicates immune-related predisposition loci. NCRV0000003803 24324551 NONHSAT164086.1 rs78852656 ? N/A 580 brazilian ancestry individuals EFO_0005529 N/A Associate Pr interval in tripanosoma cruzi seropositivity rs78852656-? of NONHSAT164086.1 is significantly associated with the pr interval in tripanosoma cruzi seropositivity by using GWAS analysis in 580 brazilian ancestry individuals(p-value = 4E-8 ;OR = ?). 0.4 Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects. NCRV0000003688 23535732 NONHSAT168436.1 rs8008270 G N/A 11,085 european ancestry cases//11,463 european ancestry controls; 19,662 european ancestry cases//19,715 european ancestry controls EFO_0001663 N/A Associate Prostate cancer rs8008270-G of NONHSAT168436.1 is significantly associated with the prostate cancer by using GWAS analysis in 11,085 european ancestry cases//11,463 european ancestry controls; 19,662 european ancestry cases//19,715 european ancestry controls(p-value = 2E-14 ;OR = 1.12). 0.4 Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. NCRV0000001701 27236921 NONHSAT100389.2 rs11959975 ? N/A 1,536 african ancestry cases//2,677 african ancestry controls; 434 african ancestry cases//1,336 african ancestry controls EFO_0003033 N/A Associate Bacteremia rs11959975-? of NONHSAT100389.2 is significantly associated with the bacteremia by using GWAS analysis in 1,536 african ancestry cases//2,677 african ancestry controls; 434 african ancestry cases//1,336 african ancestry controls(p-value = 5E-6 ;OR = 1.27). 0.4 Polymorphism in a lincRNA Associates with a Doubled Risk of Pneumococcal Bacteremia in Kenyan Children. NCRV0000002017 26034056 NONHSAT216392.1 rs77541621 A N/A 6,406 european ancestry cases//601 african american cases//288 east asian ancestry cases//488 latino cases30,866 european ancestry controls//1,650 african american controls//2,938 east asian ancestry controls//3,141 latino controls; 4,599 european ancestry cases//2,265 african american cases//2,940 european ancestry controls//2,414 african american controls EFO_0001663 N/A Associate Prostate cancer rs77541621-A of NONHSAT216392.1 is significantly associated with the prostate cancer by using GWAS analysis in 6,406 european ancestry cases//601 african american cases//288 east asian ancestry cases//488 latino cases30,866 european ancestry controls//1,650 african american controls//2,938 east asian ancestry controls//3,141 latino controls; 4,599 european ancestry cases//2,265 african american cases//2,940 european ancestry controls//2,414 african american controls(p-value = 2E-26 ;OR = 2.0408163). 0.4 A large multiethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences. NCRV0000001259 27863252 NONHSAT144156.2 rs6540234 C N/A 170,721 european ancestry individuals EFO_0005091 N/A Associate Monocyte count rs6540234-C of NONHSAT144156.2 is significantly associated with the monocyte count by using GWAS analysis in 170,721 european ancestry individuals(p-value = 5E-57 ;OR = 0.06294797). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002536 29213071 NONHSAT121312.2 rs73700722 A N/A 15,997 hispanic/latino individuals EFO_0004278 N/A Associate Qt interval rs73700722-A of NONHSAT121312.2 is significantly associated with the qt interval by using GWAS analysis in 15,997 hispanic/latino individuals(p-value = 1E-7 ;OR = 7.08). 0.4 GWAS of the electrocardiographic QT interval in Hispanics/Latinos generalizes previously identified loci and identifies population-specific signals. NCRV0000003422 27863252 NONHSAT220330.1 rs2810491 C N/A 166,066 european ancestry individuals EFO_0004309 N/A Associate Platelet count rs2810491-C of NONHSAT220330.1 is significantly associated with the platelet count by using GWAS analysis in 166,066 european ancestry individuals(p-value = 2E-21 ;OR = 0.03988658). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000874 26634245 NONHSAT212897.1 rs189909051 T N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs189909051-T of NONHSAT212897.1 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 2E-6 ;OR = 0.41). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000000507 28448500 NONHSAT113087.2 rs943005 T N/A 2,518 african american women//86,278 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//55,137 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men EFO_0001073 joint analysis main effects and physical activity interaction Associate Body mass index rs943005-T of NONHSAT113087.2 is significantly associated with the body mass index by using GWAS analysis in 2,518 african american women//86,278 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//55,137 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men(p-value = 1E-8 ;OR = 0.0389). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. NCRV0000003292 27846195 NONHSAT033481.2 rs191581512 G N/A 1,390 european ancestry cases EFO_0000692 paliperidone Associate Response to paliperidone in schizophrenia (negative marder score) rs191581512-G of NONHSAT033481.2 is significantly associated with the response to paliperidone in schizophrenia (negative marder score) by using GWAS analysis in 1,390 european ancestry cases(p-value = 2E-6 ;OR = 4.7236). 0.4 Genome-wide association study of paliperidone efficacy. NCRV0000001046 20881960 NONHSAT022168.2 rs3782089 T N/A 133,653 european ancestry individuals; 50,074 european ancestry individuals EFO_0004339 N/A Associate Height rs3782089-T of NONHSAT022168.2 is significantly associated with the height by using GWAS analysis in 133,653 european ancestry individuals; 50,074 european ancestry individuals(p-value = 4E-13 ;OR = 0.058). 0.4 Hundreds of variants clustered in genomic loci and biological pathways affect human height. NCRV0000001791 27790247 NONHSAT044111.2 rs261332 ? N/A 9,618 european ancestry individuals; 19,796 european ancestry individuals EFO_0006988 N/A Associate Age-related diseases mortality and associated endophenotypes rs261332-? of NONHSAT044111.2 is significantly associated with the age-related diseases mortality and associated endophenotypes by using GWAS analysis in 9,618 european ancestry individuals; 19,796 european ancestry individuals(p-value = 4E-42 ;OR = ?). 0.4 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases. NCRV0000002829 25575512 NONHSAT211304.1 rs17086702 ? N/A 1,376 old order amish individuals EFO_0000319 N/A Associate Lipoprotein (a) - cholesterol levels rs17086702-? of NONHSAT211304.1 is significantly associated with the lipoprotein (a) - cholesterol levels by using GWAS analysis in 1,376 old order amish individuals(p-value = 4E-9 ;OR = ?). 0.4 Evidence for several independent genetic variants affecting lipoprotein (a) cholesterol levels. NCRV0000002186 21833088 NONHSAT203488.1 rs2546890 A N/A 9,772 european ancestry cases//16,849 european ancestry controls; 4,218 european ancestry cases//7,296 european ancestry controls EFO_0003885 N/A Associate Multiple sclerosis rs2546890-A of NONHSAT203488.1 is significantly associated with the multiple sclerosis by using GWAS analysis in 9,772 european ancestry cases//16,849 european ancestry controls; 4,218 european ancestry cases//7,296 european ancestry controls(p-value = 1E-11 ;OR = 1.11). 0.4 Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. NCRV0000002132 28031287 NONHSAT221505.1 rs13631 ? N/A 133 japanese ancestry individuals. EFO_0005772 N/A Associate Cerebrospinal fluid biomarker levels rs13631-? of NONHSAT221505.1 is significantly associated with the cerebrospinal fluid biomarker levels by using GWAS analysis in 133 japanese ancestry individuals.(p-value = 7E-14 ;OR = ?). 0.4 Genome-wide quantitative trait loci mapping of the human cerebrospinal fluid proteome. NCRV0000001874 20383146 NONHSAT140921.2 rs12917707 T N/A up to 67,093 european ancestry individuals; up to 22,982 european ancestry individuals EFO_0003884 N/A Associate Chronic kidney disease rs12917707-T of NONHSAT140921.2 is significantly associated with the chronic kidney disease by using GWAS analysis in up to 67,093 european ancestry individuals; up to 22,982 european ancestry individuals(p-value = 1E-20 ;OR = ?). 0.4 New loci associated with kidney function and chronic kidney disease. NCRV0000000484 21909110 NONHSAT189066.1 rs6015450 G N/A 74,064 european ancestry individuals; 48,607 european ancestry individuals EFO_0005763 N/A Associate Blood pressure rs6015450-G of NONHSAT189066.1 is significantly associated with the blood pressure by using GWAS analysis in 74,064 european ancestry individuals; 48,607 european ancestry individuals(p-value = 2E-6 ;OR = 0.352). 0.4 Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. NCRV0000003600 28062665 NONHSAT172778.1 rs7404928 T N/A 1,381 japanese ancestry cases//1,505 japanese ancestry controls; 512 japanese ancestry cases//6,512 japanese ancestry controls EFO_1001486 N/A Associate Primary biliary cholangitis rs7404928-T of NONHSAT172778.1 is significantly associated with the primary biliary cholangitis by using GWAS analysis in 1,381 japanese ancestry cases//1,505 japanese ancestry controls; 512 japanese ancestry cases//6,512 japanese ancestry controls(p-value = 4E-9 ;OR = 1.26). 0.4 Genome-wide association studies identify PRKCB as a novel genetic susceptibility locus for primary biliary cholangitis in the Japanese population. NCRV0000003670 18391951 NONHSAT223998.1 rs1474563 T N/A 30,968 european ancestry individuals; 8,541 european ancestry individuals EFO_0004339 N/A Associate Height rs1474563-T of NONHSAT223998.1 is significantly associated with the height by using GWAS analysis in 30,968 european ancestry individuals; 8,541 european ancestry individuals(p-value = 3E-6 ;OR = 3.5). 0.4 Many sequence variants affecting diversity of adult human height. NCRV0000002936 24816252 NONHSAT083312.2 rs2540647 A N/A up to 5,591 european ancestry individuals; up to 1,767 european ancestry individuals EFO_0005664 N/A Associate Blood metabolite ratios rs2540647-A of NONHSAT083312.2 is significantly associated with the blood metabolite ratios by using GWAS analysis in up to 5,591 european ancestry individuals; up to 1,767 european ancestry individuals(p-value = 2E-70 ;OR = 0.059). 0.4 An atlas of genetic influences on human blood metabolites. NCRV0000000486 27863252 NONHSAT185459.1 rs10199109 T N/A 166,066 european ancestry individuals EFO_0004309 N/A Associate Platelet count rs10199109-T of NONHSAT185459.1 is significantly associated with the platelet count by using GWAS analysis in 166,066 european ancestry individuals(p-value = 2E-18 ;OR = 0.03451906). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003341 19079260 NONHSAT018519.2 rs6265 G N/A 72,598 european ancestry individuals//1,160 african american individuals; up to 11,036 european ancestry individuals//32,615 individuals EFO_0004338 N/A Associate Weight rs6265-G of NONHSAT018519.2 is significantly associated with the weight by using GWAS analysis in 72,598 european ancestry individuals//1,160 african american individuals; up to 11,036 european ancestry individuals//32,615 individuals(p-value = 2E-7 ;OR = 4.0). 0.4 Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity. NCRV0000003040 23251661 NONHSAT207152.1 rs9469457 A N/A 815 hispanic children from 263 families EFO_0003939 N/A Associate Obesity-related traits rs9469457-A of NONHSAT207152.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 9E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. NCRV0000001226 27863252 NONHSAT197522.1 rs11359909 A N/A 170,384 european ancestry individuals EFO_0009390 N/A Associate Sum neutrophil eosinophil counts rs11359909-A of NONHSAT197522.1 is significantly associated with the sum neutrophil eosinophil counts by using GWAS analysis in 170,384 european ancestry individuals(p-value = 3E-25 ;OR = 0.06062021). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000903 27182965 NONHSAT125201.2 rs767764 ? N/A 67,023 european ancestry individuals EFO_0007843 N/A Associate Nose size rs767764-? of NONHSAT125201.2 is significantly associated with the nose size by using GWAS analysis in 67,023 european ancestry individuals(p-value = 4E-7 ;OR = 0.025). 0.4 Detection and interpretation of shared genetic influences on 42 human traits. NCRV0000000743 24097068 NONHSAT150563.1 rs2642442 C N/A 94,595 european ancestry individuals; 93,982 european ancestry individuals EFO_0000319 N/A Associate Cholesterol//total rs2642442-C of NONHSAT150563.1 is significantly associated with the cholesterol//total by using GWAS analysis in 94,595 european ancestry individuals; 93,982 european ancestry individuals(p-value = 3E-11 ;OR = 0.035). 0.4 Discovery and refinement of loci associated with lipid levels. NCRV0000000247 28232668 NONHSAT222035.1 rs7871395 A N/A 2,033 han chinese ancestry cases//4,051 han chinese ancestry controls; 1,346 han chinese ancestry cases//4,542 han chinese ancestry controls EFO_0003959 N/A Associate Nonsyndromic cleft lip with cleft palate rs7871395-A of NONHSAT222035.1 is significantly associated with the nonsyndromic cleft lip with cleft palate by using GWAS analysis in 2,033 han chinese ancestry cases//4,051 han chinese ancestry controls; 1,346 han chinese ancestry cases//4,542 han chinese ancestry controls(p-value = 6E-9 ;OR = 1.21). 0.4 Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity. NCRV0000000562 23251661 NONHSAT103899.2 rs606854 A N/A 815 hispanic children from 263 families EFO_0005119 N/A Associate Obesity-related traits rs606854-A of NONHSAT103899.2 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 6E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. NCRV0000001537 26965516 NONHSAT190570.1 rs6061231 C N/A 4,508 east asian ancestry cases//16,588 east asian ancestry controls; 11,044 east asian ancestry cases//18,036 east asian ancestry controls EFO_0005842 N/A Associate Colorectal cancer rs6061231-C of NONHSAT190570.1 is significantly associated with the colorectal cancer by using GWAS analysis in 4,508 east asian ancestry cases//16,588 east asian ancestry controls; 11,044 east asian ancestry cases//18,036 east asian ancestry controls(p-value = 8E-11 ;OR = 1.18). 0.4 Identification of Susceptibility Loci and Genes for Colorectal Cancer Risk. NCRV0000001466 26098869 NONHSAT055686.2 rs11655237 T N/A 7,638 cases//7,364 controls; 2,287 cases//4,205 controls EFO_0002618 N/A Associate Pancreatic cancer rs11655237-T of NONHSAT055686.2 is significantly associated with the pancreatic cancer by using GWAS analysis in 7,638 cases//7,364 controls; 2,287 cases//4,205 controls(p-value = 1E-14 ;OR = 1.26). 0.4 Common variation at 2p13.3, 3q29, 7p13 and 17q25.1 associated with susceptibility to pancreatic cancer. NCRV0000000609 23743675 NONHSAT188853.1 rs62202398 ? N/A 2,322 european ancestry individuals from 118 families//2,593 european ancestry individuals; EFO_0003829 N/A Associate Alcohol consumption rs62202398-? of NONHSAT188853.1 is significantly associated with the alcohol consumption by using GWAS analysis in 2,322 european ancestry individuals from 118 families//2,593 european ancestry individuals; (p-value = 9E-6 ;OR = 0.15). 0.4 A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks. NCRV0000000537 27157822 NONHSAT207117.1 rs652888 ? N/A 38 european ancestry cases//1 case//5,170 european ancestry controls HP_0012235 N/A Associate Anti-thyroid drug induced agranulocytosis rs652888-? of NONHSAT207117.1 is significantly associated with the anti-thyroid drug induced agranulocytosis by using GWAS analysis in 38 european ancestry cases//1 case//5,170 european ancestry controls(p-value = 2E-11 ;OR = 4.73). 0.4 Genetic variants associated with antithyroid drug-induced agranulocytosis: a genome-wide association study in a European population. NCRV0000002399 28135244 NONHSAT070812.2 rs1432561 T N/A 140,886 european ancestry individuals; 190,318 european ancestry individuals EFO_0005763 N/A Associate Pulse pressure rs1432561-T of NONHSAT070812.2 is significantly associated with the pulse pressure by using GWAS analysis in 140,886 european ancestry individuals; 190,318 european ancestry individuals(p-value = 8E-6 ;OR = 0.144). 0.4 Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk. NCRV0000003605 28724990 NONHSAT200176.1 rs9991501 ? N/A 27,488 european ancestry individuals//842 old order amish individuals; 42,360 european ancestry individuals//380 african american individuals//2,350 korean ancestry individuals EFO_0004980 N/A Associate Appendicular lean mass rs9991501-? of NONHSAT200176.1 is significantly associated with the appendicular lean mass by using GWAS analysis in 27,488 european ancestry individuals//842 old order amish individuals; 42,360 european ancestry individuals//380 african american individuals//2,350 korean ancestry individuals(p-value = 1E-7 ;OR = 0.19). 0.4 Large meta-analysis of genome-wide association studies identifies five loci for lean body mass. NCRV0000002158 28031287 NONHSAT193841.1 rs6783573 ? N/A 133 japanese ancestry individuals. EFO_0005772 N/A Associate Cerebrospinal fluid biomarker levels rs6783573-? of NONHSAT193841.1 is significantly associated with the cerebrospinal fluid biomarker levels by using GWAS analysis in 133 japanese ancestry individuals.(p-value = 1E-15 ;OR = ?). 0.4 Genome-wide quantitative trait loci mapping of the human cerebrospinal fluid proteome. NCRV0000003140 29228715 NONHSAT003505.2 rs338241 ? N/A 636 austrian ancestry cases//4,294 european ancestry controls EFO_0005406 N/A Associate Colorectal adenoma (advanced) rs338241-? of NONHSAT003505.2 is significantly associated with the colorectal adenoma (advanced) by using GWAS analysis in 636 austrian ancestry cases//4,294 european ancestry controls(p-value = 6E-6 ;OR = 1.813). 0.4 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas. NCRV0000000803 28472463 NONHSAT192010.1 rs202240051 C N/A 1,268 whole genome sequenced european ancestry women//8,880 european ancestry women//6,479 european ancestry men EFO_0004514 N/A Associate Bone ultrasound measurement (broadband ultrasound attenuation) rs202240051-C of NONHSAT192010.1 is significantly associated with the bone ultrasound measurement (broadband ultrasound attenuation) by using GWAS analysis in 1,268 whole genome sequenced european ancestry women//8,880 european ancestry women//6,479 european ancestry men(p-value = 2E-8 ;OR = 0.11). 0.4 Genome-wide association study meta-analysis for quantitative ultrasound parameters of bone identifies five novel loci for broadband ultrasound attenuation. NCRV0000000661 27863252 NONHSAT198706.1 rs16850073 T N/A 170,494 european ancestry individuals EFO_0007989 N/A Associate Monocyte percentage of white cells rs16850073-T of NONHSAT198706.1 is significantly associated with the monocyte percentage of white cells by using GWAS analysis in 170,494 european ancestry individuals(p-value = 5E-13 ;OR = 0.02675622). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002018 27863252 NONHSAT189066.1 rs259981 A N/A 171,643 european ancestry individuals EFO_0004587 N/A Associate Lymphocyte counts rs259981-A of NONHSAT189066.1 is significantly associated with the lymphocyte counts by using GWAS analysis in 171,643 european ancestry individuals(p-value = 1E-10 ;OR = 0.0243979). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000454 28898252 NONHSAT139199.2 rs1050828 T N/A 88,355 european ancestry individuals,18,472 east asian ancestry individuals//7,572 south asian ancestry individuals//7,564 african american individuals; 33,238 european ancestry individuals// 2,366 east asian ancestry individuals//1,302 south asian ancestry individuals EFO_0001360 N/A Associate Glycated hemoglobin levels rs1050828-T of NONHSAT139199.2 is significantly associated with the glycated hemoglobin levels by using GWAS analysis in 88,355 european ancestry individuals,18,472 east asian ancestry individuals//7,572 south asian ancestry individuals//7,564 african american individuals; 33,238 european ancestry individuals// 2,366 east asian ancestry individuals//1,302 south asian ancestry individuals(p-value = 8E-135 ;OR = 0.3819). 0.4 Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis. NCRV0000002526 25673412 NONHSAT168677.1 rs7144011 T N/A up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women EFO_0004342 N/A Associate Waist circumference rs7144011-T of NONHSAT168677.1 is significantly associated with the waist circumference by using GWAS analysis in up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women(p-value = 2E-7 ;OR = 0.0277). 0.4 New genetic loci link adipose and insulin biology to body fat distribution. NCRV0000000300 24097068 NONHSAT192799.1 rs5763662 T N/A 94,595 european ancestry individuals; 93,982 european ancestry individuals EFO_0000319 N/A Associate Ldl cholesterol rs5763662-T of NONHSAT192799.1 is significantly associated with the ldl cholesterol by using GWAS analysis in 94,595 european ancestry individuals; 93,982 european ancestry individuals(p-value = 1E-8 ;OR = 0.077). 0.4 Discovery and refinement of loci associated with lipid levels. NCRV0000000382 27863252 NONHSAT061038.2 rs10409243 T N/A 170,702 european ancestry individuals EFO_0004833 N/A Associate Neutrophil count rs10409243-T of NONHSAT061038.2 is significantly associated with the neutrophil count by using GWAS analysis in 170,702 european ancestry individuals(p-value = 4E-9 ;OR = 0.02207318). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000742 27863252 NONHSAT076891.2 rs55799208 A N/A 170,384 european ancestry individuals EFO_0009390 N/A Associate Sum neutrophil eosinophil counts rs55799208-A of NONHSAT076891.2 is significantly associated with the sum neutrophil eosinophil counts by using GWAS analysis in 170,384 european ancestry individuals(p-value = 2E-41 ;OR = 0.4845187). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000165 26631737 NONHSAT178761.1 rs4528660 T N/A up to 46,051 european ancestry individuals EFO_0007778 N/A Associate Urinary albumin-to-creatinine ratio in non-diabetics rs4528660-T of NONHSAT178761.1 is significantly associated with the urinary albumin-to-creatinine ratio in non-diabetics by using GWAS analysis in up to 46,051 european ancestry individuals(p-value = 9E-6 ;OR = 0.073). 0.4 Genome-wide Association Studies Identify Genetic Loci Associated With Albuminuria in Diabetes. NCRV0000003935 23251661 NONHSAT056871.2 rs1893154 A N/A 815 hispanic children from 263 families EFO_0004612 N/A Associate Obesity-related traits rs1893154-A of NONHSAT056871.2 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 3E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. NCRV0000000279 26198764 NONHSAT041542.2 rs8025470 A N/A 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls EFO_0000692 N/A Associate Schizophrenia rs8025470-A of NONHSAT041542.2 is significantly associated with the schizophrenia by using GWAS analysis in 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls(p-value = 8E-6 ;OR = 1.1). 0.4 Genome-wide association study of schizophrenia in Ashkenazi Jews. NCRV0000001161 23382691 NONHSAT221713.1 rs1577330 G N/A 2,247 european ancestry individuals EFO_0002690 N/A Associate Igg glycosylation rs1577330-G of NONHSAT221713.1 is significantly associated with the igg glycosylation by using GWAS analysis in 2,247 european ancestry individuals(p-value = 4E-6 ;OR = 0.1746). 0.4 Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. NCRV0000002176 28566273 NONHSAT201627.1 rs4975241 C N/A up to 26,676 european ancestry cases//up to 132,532 european ancestry controls; up to 12,543 european ancestry cases//up to 66,458 european ancestry controls EFO_0001360 N/A Associate Type 2 diabetes rs4975241-C of NONHSAT201627.1 is significantly associated with the type 2 diabetes by using GWAS analysis in up to 26,676 european ancestry cases//up to 132,532 european ancestry controls; up to 12,543 european ancestry cases//up to 66,458 european ancestry controls(p-value = 5E-7 ;OR = 1.14). 0.4 An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans. NCRV0000001318 19340012 NONHSAT174717.1 rs154659 C N/A 2,287 european ancestry female individuals; 870 european ancestry female individuals EFO_0003958 N/A Associate Tanning rs154659-C of NONHSAT174717.1 is significantly associated with the tanning by using GWAS analysis in 2,287 european ancestry female individuals; 870 european ancestry female individuals(p-value = 7E-8 ;OR = 0.14). 0.4 Genome-wide association study of tanning phenotype in a population of European ancestry. NCRV0000000113 25673413 NONHSAT172850.1 rs4787491 G N/A up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals EFO_0001073 N/A Associate Body mass index rs4787491-G of NONHSAT172850.1 is significantly associated with the body mass index by using GWAS analysis in up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals(p-value = 2E-6 ;OR = 0.015). 0.4 Genetic studies of body mass index yield new insights for obesity biology. NCRV0000003205 28892062 NONHSAT053287.2 rs11658063 C N/A up to 72,390 japanese ancestry women//up to 85,894 japanese ancestry men; up to 10,048 japanese ancestry women//up to 5,098 japanese ancestry men//up to 181,999 european ancestry women//up to 140,155 european ancestry controls EFO_0001073 N/A Associate Body mass index rs11658063-C of NONHSAT053287.2 is significantly associated with the body mass index by using GWAS analysis in up to 72,390 japanese ancestry women//up to 85,894 japanese ancestry men; up to 10,048 japanese ancestry women//up to 5,098 japanese ancestry men//up to 181,999 european ancestry women//up to 140,155 european ancestry controls(p-value = 6E-9 ;OR = 0.024). 0.4 Genome-wide association study identifies 112 new loci for body mass index in the Japanese population. NCRV0000000549 24816252 NONHSAT159177.1 rs174535 T N/A 7,824 european ancestry individuals EFO_0005664 N/A Associate Blood metabolite levels rs174535-T of NONHSAT159177.1 is significantly associated with the blood metabolite levels by using GWAS analysis in 7,824 european ancestry individuals(p-value = 2E-94 ;OR = 0.056). 0.4 An atlas of genetic influences on human blood metabolites. NCRV0000000307 28892062 NONHSAT052809.2 rs180950758 T N/A up to 72,390 japanese ancestry women//up to 85,894 japanese ancestry men; up to 10,048 japanese ancestry women//up to 5,098 japanese ancestry men//up to 181,999 european ancestry women//up to 140,155 european ancestry controls EFO_0001073 N/A Associate Body mass index rs180950758-T of NONHSAT052809.2 is significantly associated with the body mass index by using GWAS analysis in up to 72,390 japanese ancestry women//up to 85,894 japanese ancestry men; up to 10,048 japanese ancestry women//up to 5,098 japanese ancestry men//up to 181,999 european ancestry women//up to 140,155 european ancestry controls(p-value = 3E-8 ;OR = 0.027). 0.4 Genome-wide association study identifies 112 new loci for body mass index in the Japanese population. NCRV0000001898 28334899 NONHSAT173242.1 rs1122531 T N/A 22,814 east asian ancestry individuals; 57,490 east asian ancestry individuals EFO_0000319 N/A Associate Total cholesterol levels rs1122531-T of NONHSAT173242.1 is significantly associated with the total cholesterol levels by using GWAS analysis in 22,814 east asian ancestry individuals; 57,490 east asian ancestry individuals(p-value = 1E-13 ;OR = 0.081). 0.4 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels. NCRV0000000219 26301688 NONHSAT200929.1 rs7672495 C N/A 97 european ancestry thyroiditis cases//107 european ancestry ankylosing spondylitis cases//100 european ancestry psoriasis cases//173 european ancestry celiac disease cases//254 european ancestry systemic lupus erythematosus cases//308 european ancestry common variable inmunodeficiency cases//865 european ancestry ulcerative colitis cases//1,086 european ancestry type 1 diabetes cases//1,123 european ancestry juvenile idiopathic arthritis cases//1,922 european ancestry crohn's disease cases//10,718 european ancestry controls EFO_0000540 N/A Associate Pediatric autoimmune diseases rs7672495-C of NONHSAT200929.1 is significantly associated with the pediatric autoimmune diseases by using GWAS analysis in 97 european ancestry thyroiditis cases//107 european ancestry ankylosing spondylitis cases//100 european ancestry psoriasis cases//173 european ancestry celiac disease cases//254 european ancestry systemic lupus erythematosus cases//308 european ancestry common variable inmunodeficiency cases//865 european ancestry ulcerative colitis cases//1,086 european ancestry type 1 diabetes cases//1,123 european ancestry juvenile idiopathic arthritis cases//1,922 european ancestry crohn's disease cases//10,718 european ancestry controls(p-value = 1E-7 ;OR = ?). 0.4 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases. NCRV0000003330 23251661 NONHSAT038090.2 rs746630 G N/A 815 hispanic children from 263 families EFO_0005116 N/A Associate Obesity-related traits rs746630-G of NONHSAT038090.2 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 4E-6 ;OR = 0.04). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. NCRV0000003589 27863252 NONHSAT192444.1 rs4822191 A N/A 172,433 european ancestry individuals EFO_0004526 N/A Associate Mean corpuscular volume rs4822191-A of NONHSAT192444.1 is significantly associated with the mean corpuscular volume by using GWAS analysis in 172,433 european ancestry individuals(p-value = 3E-9 ;OR = 0.02104635). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002508 28724990 NONHSAT200176.1 rs9991501 ? N/A 37,450 european ancestry individuals//842 old order amish individuals; 47,227 european ancestry individuals//380 african american individuals//8,034 korean ancestry individuals//7,834 indian ancestry individuals EFO_0004995 N/A Associate Lean body mass rs9991501-? of NONHSAT200176.1 is significantly associated with the lean body mass by using GWAS analysis in 37,450 european ancestry individuals//842 old order amish individuals; 47,227 european ancestry individuals//380 african american individuals//8,034 korean ancestry individuals//7,834 indian ancestry individuals(p-value = 6E-9 ;OR = 0.39). 0.4 Large meta-analysis of genome-wide association studies identifies five loci for lean body mass. NCRV0000001396 28270201 NONHSAT215396.1 rs4841132 G N/A 19,223 british ancestry individuals from 6863 families. EFO_0000319 N/A Associate Hdl cholesterol rs4841132-G of NONHSAT215396.1 is significantly associated with the hdl cholesterol by using GWAS analysis in 19,223 british ancestry individuals from 6863 families.(p-value = 1E-8 ;OR = 0.10894712). 0.4 Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants. NCRV0000001488 23144326 NONHSAT161116.1 rs7929679 G N/A up to 1,951 european ancestry smokers EFO_0000341 N/A Associate Chronic obstructive pulmonary disease-related biomarkers rs7929679-G of NONHSAT161116.1 is significantly associated with the chronic obstructive pulmonary disease-related biomarkers by using GWAS analysis in up to 1,951 european ancestry smokers(p-value = 7E-9 ;OR = ?). 0.4 Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease. NCRV0000003233 27863252 NONHSAT180720.1 rs11086102 C N/A 170,721 european ancestry individuals EFO_0005091 N/A Associate Monocyte count rs11086102-C of NONHSAT180720.1 is significantly associated with the monocyte count by using GWAS analysis in 170,721 european ancestry individuals(p-value = 3E-20 ;OR = 0.03434421). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002988 27182965 NONHSAT205713.1 rs62366894 ? N/A 46,936 european ancestry cases//74,874 european ancestry controls EFO_0007904 N/A Associate Childhood ear infection rs62366894-? of NONHSAT205713.1 is significantly associated with the childhood ear infection by using GWAS analysis in 46,936 european ancestry cases//74,874 european ancestry controls(p-value = 3E-7 ;OR = 1.0604454). 0.4 Detection and interpretation of shared genetic influences on 42 human traits. NCRV0000000009 19553259 NONHSAT158283.1 rs10999409 T N/A 775 european ancestry cases//3,197 european ancestry controls EFO_0001073 N/A Associate Obesity (extreme) rs10999409-T of NONHSAT158283.1 is significantly associated with the obesity (extreme) by using GWAS analysis in 775 european ancestry cases//3,197 european ancestry controls(p-value = 5E-6 ;OR = 1.3). 0.4 Common body mass index-associated variants confer risk of extreme obesity. NCRV0000003851 29186694 NONHSAT054187.2 rs17563986 ? N/A 107,207 european ancestry individuals EFO_0008354 N/A Associate Cognitive ability rs17563986-? of NONHSAT054187.2 is significantly associated with the cognitive ability by using GWAS analysis in 107,207 european ancestry individuals(p-value = 8E-8 ;OR = 5.368). 0.4 Large-Scale Cognitive GWAS Meta-Analysis Reveals Tissue-Specific Neural Expression and Potential Nootropic Drug Targets. NCRV0000003608 27863252 NONHSAT198706.1 rs16850073 T N/A 169,545 european ancestry individuals EFO_0007997 N/A Associate Granulocyte percentage of myeloid white cells rs16850073-T of NONHSAT198706.1 is significantly associated with the granulocyte percentage of myeloid white cells by using GWAS analysis in 169,545 european ancestry individuals(p-value = 5E-23 ;OR = 0.03661964). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001939 20195266 NONHSAT174117.1 rs17216786 ? N/A 421 european ancestry//214 african american//and 103 cases GO_0097338 N/A Associate Response to antipsychotic treatment rs17216786-? of NONHSAT174117.1 is significantly associated with the response to antipsychotic treatment by using GWAS analysis in 421 european ancestry//214 african american//and 103 cases(p-value = 1E-6 ;OR = ?). 0.4 Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs. NCRV0000001013 28073927 NONHSAT022168.2 rs1346 T N/A 20,353 european ancestry individuals//2,131 erasmus rucphen (founder/genetic isolate) individuals; 7,333 asian ancestry individuals EFO_0004190 N/A Associate Optic cup area rs1346-T of NONHSAT022168.2 is significantly associated with the optic cup area by using GWAS analysis in 20,353 european ancestry individuals//2,131 erasmus rucphen (founder/genetic isolate) individuals; 7,333 asian ancestry individuals(p-value = 2E-12 ;OR = 0.023). 0.4 New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics. NCRV0000001822 27863252 NONHSAT008671.2 rs1434282 T N/A 170,763 european ancestry individuals EFO_0007986 N/A Associate High light scatter reticulocyte percentage of red cells rs1434282-T of NONHSAT008671.2 is significantly associated with the high light scatter reticulocyte percentage of red cells by using GWAS analysis in 170,763 european ancestry individuals(p-value = 4E-19 ;OR = 0.03616365). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000327 28991256 NONHSAT194770.1 rs192812 C N/A 7,699 chinese ancestry cases//35,476 european ancestry cases//18,327 chinese ancestry controls//46,839 european ancestry controls; 4,384 chinese ancestry cases//5,770 chinese ancestry controls EFO_0000692 N/A Associate Schizophrenia rs192812-C of NONHSAT194770.1 is significantly associated with the schizophrenia by using GWAS analysis in 7,699 chinese ancestry cases//35,476 european ancestry cases//18,327 chinese ancestry controls//46,839 european ancestry controls; 4,384 chinese ancestry cases//5,770 chinese ancestry controls(p-value = 9E-8 ;OR = 1.0537407). 0.4 Genome-wide association analysis identifies 30 new susceptibility loci for schizophrenia. NCRV0000003508 26192919 NONHSAT203343.1 rs6863411 T N/A 6,968 european ancestry cases//20,464 european ancestry controls; 10,679 european ancestry cases//26,715 european ancestry controls//397 iranian ancestry cases//342 iranian ancestry controls//1,239 indian ancestry cases//990 indian ancestry controls//1,134 east asian ancestry cases//3,719 east asian ancestry controls EFO_0000729 N/A Associate Ulcerative colitis rs6863411-T of NONHSAT203343.1 is significantly associated with the ulcerative colitis by using GWAS analysis in 6,968 european ancestry cases//20,464 european ancestry controls; 10,679 european ancestry cases//26,715 european ancestry controls//397 iranian ancestry cases//342 iranian ancestry controls//1,239 indian ancestry cases//990 indian ancestry controls//1,134 east asian ancestry cases//3,719 east asian ancestry controls(p-value = 6E-7 ;OR = 1.0674366). 0.4 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. NCRV0000001195 21909106 NONHSAT216850.1 rs13278062 T N/A 827 japanese ancestry cases//3,323 japanese ancestry controls; 709 japanese ancestry cases//15,571 japanese ancestry controls EFO_0001365 N/A Associate Age-related macular degeneration rs13278062-T of NONHSAT216850.1 is significantly associated with the age-related macular degeneration by using GWAS analysis in 827 japanese ancestry cases//3,323 japanese ancestry controls; 709 japanese ancestry cases//15,571 japanese ancestry controls(p-value = 1E-12 ;OR = 1.37). 0.4 Genome-wide association study identifies two susceptibility loci for exudative age-related macular degeneration in the Japanese population. NCRV0000000034 27182965 NONHSAT166295.1 rs146188897 ? N/A 67,023 european ancestry individuals EFO_0007843 N/A Associate Nose size rs146188897-? of NONHSAT166295.1 is significantly associated with the nose size by using GWAS analysis in 67,023 european ancestry individuals(p-value = 3E-10 ;OR = 0.03). 0.4 Detection and interpretation of shared genetic influences on 42 human traits. NCRV0000000861 28084903 NONHSAT055407.2 rs144023814 ? N/A 123 european ancestry cases//1,345 european and unknown ancestry controls//1 middle eastern ancestry case; nr HP_0012735 angiotensin-converting enzyme inhibitor drugs Associate Cough in response to angiotensin-converting enzyme inhibitor drugs rs144023814-? of NONHSAT055407.2 is significantly associated with the cough in response to angiotensin-converting enzyme inhibitor drugs by using GWAS analysis in 123 european ancestry cases//1,345 european and unknown ancestry controls//1 middle eastern ancestry case; nr(p-value = 4E-7 ;OR = 7.35). 0.4 Genetic variants associated with angiotensin-converting enzyme inhibitor-induced cough: a genome-wide association study in a Swedish population. NCRV0000000328 26192919 NONHSAT067101.2 rs516246 A N/A 12,882 european ancestry cases//21,770 european ancestry controls; 25,273 european ancestry cases//26,715 european ancestry controls//548 iranian ancestry cases//342 iranian ancestry control//1,423 indian ancestry cases//990 indian ancestry controls//2,824 east asian ancestry cases//3,719 east asian ancestry controls EFO_0003767 N/A Associate Inflammatory bowel disease rs516246-A of NONHSAT067101.2 is significantly associated with the inflammatory bowel disease by using GWAS analysis in 12,882 european ancestry cases//21,770 european ancestry controls; 25,273 european ancestry cases//26,715 european ancestry controls//548 iranian ancestry cases//342 iranian ancestry control//1,423 indian ancestry cases//990 indian ancestry controls//2,824 east asian ancestry cases//3,719 east asian ancestry controls(p-value = 1E-13 ;OR = 1.0784879). 0.4 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. NCRV0000002610 20686565 NONHSAT107886.2 rs3757354 T N/A 100,184 european ancestry individuals EFO_0000319 N/A Associate Cholesterol//total rs3757354-T of NONHSAT107886.2 is significantly associated with the cholesterol//total by using GWAS analysis in 100,184 european ancestry individuals(p-value = 3E-9 ;OR = 1.46). 0.4 Biological, clinical and population relevance of 95 loci for blood lipids. NCRV0000003370 23534349 NONHSAT204317.1 rs6894385 C N/A 455 african american individuals EFO_0004278 N/A Associate Qt interval rs6894385-C of NONHSAT204317.1 is significantly associated with the qt interval by using GWAS analysis in 455 african american individuals(p-value = 1E-6 ;OR = 9.92). 0.4 Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans. NCRV0000001401 21980299 NONHSAT160476.1 rs4084127 ? N/A 9,934 european ancestry cases//16,956 european ancestry controls; 1,120 european ancestry affected trios EFO_0001359 N/A Associate Type 1 diabetes rs4084127-? of NONHSAT160476.1 is significantly associated with the type 1 diabetes by using GWAS analysis in 9,934 european ancestry cases//16,956 european ancestry controls; 1,120 european ancestry affected trios(p-value = 3E-6 ;OR = 1.11). 0.4 A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci. NCRV0000003939 28212542 NONHSAT192354.1 rs2284063 ? N/A 4,842 european ancestry cases//286,565 european ancestry controls; 1,804 european ancestry cases//1,026 european ancestry controls EFO_0000756 N/A Associate Melanoma rs2284063-? of NONHSAT192354.1 is significantly associated with the melanoma by using GWAS analysis in 4,842 european ancestry cases//286,565 european ancestry controls; 1,804 european ancestry cases//1,026 european ancestry controls(p-value = 2E-9 ;OR = 1.2048193). 0.4 Two-stage genome-wide association study identifies a novel susceptibility locus associated with melanoma. NCRV0000001986 28181694 NONHSAT034038.2 rs12428820 A N/A 488 european ancestry female children//445 european ancestry male children; 245 european ancestry female children//241 european ancestry male children EFO_0007621 N/A Associate Pediatric bone mineral content (hip) rs12428820-A of NONHSAT034038.2 is significantly associated with the pediatric bone mineral content (hip) by using GWAS analysis in 488 european ancestry female children//445 european ancestry male children; 245 european ancestry female children//241 european ancestry male children(p-value = 4E-6 ;OR = 0.30272). 0.4 A Genomewide Association Study Identifies Two Sex-Specific Loci, at SPTB and IZUMO3, Influencing Pediatric Bone Mineral Density at Multiple Skeletal Sites. NCRV0000001645 21123754 NONHSAT179793.1 rs429358 ? N/A 96 european ancestry alzheimer disease cases//176 european ancestry individuals with mild cognitive impairment//102 european ancestry controls EFO_0000249 N/A Associate Alzheimer's disease biomarkers rs429358-? of NONHSAT179793.1 is significantly associated with the alzheimer's disease biomarkers by using GWAS analysis in 96 european ancestry alzheimer disease cases//176 european ancestry individuals with mild cognitive impairment//102 european ancestry controls(p-value = 1E-6 ;OR = ?). 0.4 Genome-wide association study of CSF biomarkers Abeta1-42, t-tau, and p-tau181p in the ADNI cohort. NCRV0000000017 19011631 NONHSAT168447.1 rs4444235 C N/A 1,902 european ancestry cases//1,929 european ancestry controls; 18,284 european ancestry cases//18,926 european ancestry controls EFO_0005842 N/A Associate Colorectal cancer rs4444235-C of NONHSAT168447.1 is significantly associated with the colorectal cancer by using GWAS analysis in 1,902 european ancestry cases//1,929 european ancestry controls; 18,284 european ancestry cases//18,926 european ancestry controls(p-value = 8E-10 ;OR = 1.11). 0.4 Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer. NCRV0000002372 23382691 NONHSAT018325.2 rs7111562 C N/A 2,247 european ancestry individuals EFO_0002690 N/A Associate Igg glycosylation rs7111562-C of NONHSAT018325.2 is significantly associated with the igg glycosylation by using GWAS analysis in 2,247 european ancestry individuals(p-value = 2E-6 ;OR = 0.2255). 0.4 Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. NCRV0000000792 22542470 NONHSAT076965.2 rs359965 ? N/A 217 african american individuals//580 european ancestry individuals//217 hispanic individuals EFO_0004645 N/A Associate Immune response to smallpox vaccine (il-6) rs359965-? of NONHSAT076965.2 is significantly associated with the immune response to smallpox vaccine (il-6) by using GWAS analysis in 217 african american individuals//580 european ancestry individuals//217 hispanic individuals(p-value = 2E-6 ;OR = ?). 0.4 Genome-wide association study of antibody response to smallpox vaccine. NCRV0000001100 26151496 NONHSAT207099.1 rs9262631 A N/A 21 east asian ancestry cases with agranulocytosis//662 east asian ancestry cases without agranulocytosis; 21 east asian ancestry cases with agranulocytosis//546 east asian ancestry cases without agranulocytosis HP_0012235 N/A Associate Thionamide-induced agranulocytosis in graves' disease rs9262631-A of NONHSAT207099.1 is significantly associated with the thionamide-induced agranulocytosis in graves' disease by using GWAS analysis in 21 east asian ancestry cases with agranulocytosis//662 east asian ancestry cases without agranulocytosis; 21 east asian ancestry cases with agranulocytosis//546 east asian ancestry cases without agranulocytosis(p-value = 6E-19 ;OR = 7.09). 0.4 Genetic determinants of antithyroid drug-induced agranulocytosis by human leukocyte antigen genotyping and genome-wide association study. NCRV0000002937 19060910 NONHSAT031256.2 rs2650000 A N/A 4,763 northern finnish founder individuals GO_0006954 N/A Associate Metabolic traits rs2650000-A of NONHSAT031256.2 is significantly associated with the metabolic traits by using GWAS analysis in 4,763 northern finnish founder individuals(p-value = 3E-11 ;OR = 0.4). 0.4 Genome-wide association analysis of metabolic traits in a birth cohort from a founder population. NCRV0000002603 21348951 NONHSAT195422.1 rs3729931 ? N/A 851 old order amish individuals EFO_0002503 N/A Associate Cardiac hypertrophy rs3729931-? of NONHSAT195422.1 is significantly associated with the cardiac hypertrophy by using GWAS analysis in 851 old order amish individuals(p-value = 7E-7 ;OR = ?). 0.4 Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality. NCRV0000002654 28031287 NONHSAT161045.1 rs1993373 ? N/A 133 japanese ancestry individuals. EFO_0005772 N/A Associate Cerebrospinal fluid biomarker levels rs1993373-? of NONHSAT161045.1 is significantly associated with the cerebrospinal fluid biomarker levels by using GWAS analysis in 133 japanese ancestry individuals.(p-value = 2E-11 ;OR = ?). 0.4 Genome-wide quantitative trait loci mapping of the human cerebrospinal fluid proteome. NCRV0000000128 26198764 NONHSAT168123.1 rs3812831 C N/A 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls EFO_0000692 N/A Associate Schizophrenia rs3812831-C of NONHSAT168123.1 is significantly associated with the schizophrenia by using GWAS analysis in 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls(p-value = 1E-6 ;OR = 1.0526316). 0.4 Genome-wide association study of schizophrenia in Ashkenazi Jews. NCRV0000000846 29059683 NONHSAT202082.1 rs3215401 A N/A 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls EFO_0000305 N/A Associate Breast cancer rs3215401-A of NONHSAT202082.1 is significantly associated with the breast cancer by using GWAS analysis in 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls(p-value = 1E-20 ;OR = 1.0752687). 0.4 Association analysis identifies 65 new breast cancer risk loci. NCRV0000003432 27622933 NONHSAT190968.1 rs190544851 ? N/A 1,311 european ancestry non-responder cases//192,178 european ancestry healthy controls EFO_0003761 antidepressants Associate Non-response to antidepressants and depression rs190544851-? of NONHSAT190968.1 is significantly associated with the non-response to antidepressants and depression by using GWAS analysis in 1,311 european ancestry non-responder cases//192,178 european ancestry healthy controls(p-value = 3E-7 ;OR = 14.29). 0.4 Analysis of 23andMe antidepressant efficacy survey data: implication of circadian rhythm and neuroplasticity in bupropion response. NCRV0000002682 27182965 NONHSAT212499.1 rs6959584 ? N/A 28,399 european ancestry cases//128,843 european ancestry controls EFO_0000270 N/A Associate Asthma rs6959584-? of NONHSAT212499.1 is significantly associated with the asthma by using GWAS analysis in 28,399 european ancestry cases//128,843 european ancestry controls(p-value = 2E-8 ;OR = 1.086). 0.4 Detection and interpretation of shared genetic influences on 42 human traits. NCRV0000001728 25628645 NONHSAT208508.1 rs9355211 ? N/A 93 african american ancestry lymphoblastoid cell lines//91 european ancestry lymphoblastoid cell lines//94 han chinese ancestry lymphoblastoid cell lines EFO_0006996 Homoharringtonine Associate Response to homoharringtonine (cytotoxicity) rs9355211-? of NONHSAT208508.1 is significantly associated with the response to homoharringtonine (cytotoxicity) by using GWAS analysis in 93 african american ancestry lymphoblastoid cell lines//91 european ancestry lymphoblastoid cell lines//94 han chinese ancestry lymphoblastoid cell lines(p-value = 7E-7 ;OR = ?). 0.4 Identification of genetic variants or genes that are associated with Homoharringtonine (HHT) response through a genome-wide association study in human lymphoblastoid cell lines (LCLs). NCRV0000000745 21216879 NONHSAT172542.1 rs1065656 G N/A 10,280 european ancestry individuals EFO_0001360 N/A Associate Insulin-like growth factors rs1065656-G of NONHSAT172542.1 is significantly associated with the insulin-like growth factors by using GWAS analysis in 10,280 european ancestry individuals(p-value = 1E-11 ;OR = ?). 0.4 A genome-wide association study identifies novel loci associated with circulating IGF-I and IGFBP-3. NCRV0000002046 20364137 NONHSAT218220.1 rs1504749 C N/A 2,780 european ancestry cases//12,515 european ancestry controls; 3,111 japanese ancestry cases//1,666 japanese ancestry controls EFO_0003870 N/A Associate Intracranial aneurysm rs1504749-C of NONHSAT218220.1 is significantly associated with the intracranial aneurysm by using GWAS analysis in 2,780 european ancestry cases//12,515 european ancestry controls; 3,111 japanese ancestry cases//1,666 japanese ancestry controls(p-value = 5E-7 ;OR = 1.17). 0.4 Genome-wide association study of intracranial aneurysm identifies three new risk loci. NCRV0000002529 20548946 NONHSAT022122.2 rs17146964 G N/A 7,360 european ancestry individuals; 4,455 european ancestry individuals EFO_0004832 N/A Associate Vertical cup-disc ratio rs17146964-G of NONHSAT022122.2 is significantly associated with the vertical cup-disc ratio by using GWAS analysis in 7,360 european ancestry individuals; 4,455 european ancestry individuals(p-value = 4E-9 ;OR = 0.01). 0.4 A genome-wide association study of optic disc parameters. NCRV0000003078 26089329 NONHSAT165076.1 rs248812 A N/A up to 1,592 african american cases//up to 13,154 african american controls EFO_0000712 N/A Associate Stroke rs248812-A of NONHSAT165076.1 is significantly associated with the stroke by using GWAS analysis in up to 1,592 african american cases//up to 13,154 african american controls(p-value = 9E-7 ;OR = 0.26). 0.4 Meta-Analysis of Genome-Wide Association Studies Identifies Genetic Risk Factors for Stroke in African Americans. NCRV0000000401 27863252 NONHSAT092490.2 rs2608073 T N/A 171,529 european ancestry individuals EFO_0005192 N/A Associate Red cell distribution width rs2608073-T of NONHSAT092490.2 is significantly associated with the red cell distribution width by using GWAS analysis in 171,529 european ancestry individuals(p-value = 1E-9 ;OR = 0.04035898). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000858 23934736 NONHSAT175312.1 rs3096644 G N/A 1,260 african american individuals EFO_0005275 N/A Associate Metabolite levels (dihydroxy docosatrienoic acid) rs3096644-G of NONHSAT175312.1 is significantly associated with the metabolite levels (dihydroxy docosatrienoic acid) by using GWAS analysis in 1,260 african american individuals(p-value = 6E-6 ;OR = 0.08). 0.4 Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study. NCRV0000002778 20139978 NONHSAT145127.2 rs6065 T N/A 14,806 japanese ancestry individuals EFO_0004309 N/A Associate Platelet count rs6065-T of NONHSAT145127.2 is significantly associated with the platelet count by using GWAS analysis in 14,806 japanese ancestry individuals(p-value = 2E-12 ;OR = 0.124). 0.4 Genome-wide association study of hematological and biochemical traits in a Japanese population. NCRV0000003347 26077951 NONHSAT125810.2 rs643472 ? N/A 152 cases//3,111 controls; 67 cases//457 controls Orphanet_278 N/A Associate Corticobasal degeneration rs643472-? of NONHSAT125810.2 is significantly associated with the corticobasal degeneration by using GWAS analysis in 152 cases//3,111 controls; 67 cases//457 controls(p-value = 1E-6 ;OR = 1.83). 0.4 Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy. NCRV0000003434 23001122 NONHSAT173881.1 rs3803662 ? N/A 823 european ancestry cases//2,795 european ancestry controls; 438 european ancestry cases//474 european ancestry controls EFO_0000305 N/A Associate Breast cancer (male) rs3803662-? of NONHSAT173881.1 is significantly associated with the breast cancer (male) by using GWAS analysis in 823 european ancestry cases//2,795 european ancestry controls; 438 european ancestry cases//474 european ancestry controls(p-value = 4E-15 ;OR = 1.5). 0.4 Genome-wide association study identifies a common variant in RAD51B associated with male breast cancer risk. NCRV0000000377 23563607 NONHSAT168677.1 rs2370983 A N/A 93,015 european ancestry overweight individuals//32,858 european ancestry class i obese individuals//9,889 european ancestry class ii obese individuals//2,896 european ancestry class iii obese individuals//up to 65,840 european ancestry controls; 65,332 european ancestry overweight individuals//22,373 european ancestry class i obese individuals//5,476 european ancestry class ii obese individuals//1,162 european ancestry class iii obese individuals//up to 39,294 european ancestry controls EFO_0001073 N/A Associate Obesity rs2370983-A of NONHSAT168677.1 is significantly associated with the obesity by using GWAS analysis in 93,015 european ancestry overweight individuals//32,858 european ancestry class i obese individuals//9,889 european ancestry class ii obese individuals//2,896 european ancestry class iii obese individuals//up to 65,840 european ancestry controls; 65,332 european ancestry overweight individuals//22,373 european ancestry class i obese individuals//5,476 european ancestry class ii obese individuals//1,162 european ancestry class iii obese individuals//up to 39,294 european ancestry controls(p-value = 3E-9 ;OR = 1.04). 0.4 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. NCRV0000000980 24740154 NONHSAT160013.1 rs7126629 C N/A 931 european ancestry cases//4,120 european ancestry controls; 2,571 european ancestry cases//921 european ancestry controls EFO_0001663 N/A Associate Prostate cancer (early onset) rs7126629-C of NONHSAT160013.1 is significantly associated with the prostate cancer (early onset) by using GWAS analysis in 931 european ancestry cases//4,120 european ancestry controls; 2,571 european ancestry cases//921 european ancestry controls(p-value = 2E-8 ;OR = 1.44). 0.4 Genome-wide association scan for variants associated with early-onset prostate cancer. NCRV0000003015 24529757 NONHSAT039466.2 rs7148498 ? N/A 250 han chinese ancestry cases//250 han chinese ancestry controls EFO_0001357 N/A Associate Amyotrophic lateral sclerosis (sporadic) rs7148498-? of NONHSAT039466.2 is significantly associated with the amyotrophic lateral sclerosis (sporadic) by using GWAS analysis in 250 han chinese ancestry cases//250 han chinese ancestry controls(p-value = 1E-6 ;OR = ?). 0.4 Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations. NCRV0000003536 24324551 NONHSAT152243.1 rs631288 ? N/A 580 brazilian ancestry individuals EFO_0005529 N/A Associate Pr interval in tripanosoma cruzi seropositivity rs631288-? of NONHSAT152243.1 is significantly associated with the pr interval in tripanosoma cruzi seropositivity by using GWAS analysis in 580 brazilian ancestry individuals(p-value = 3E-6 ;OR = ?). 0.4 Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects. NCRV0000002434 29058716 NONHSAT159884.1 rs11820646 C N/A 14,135 european ancestry cases//58,126 european ancestry controls; 7,333 european ancestry cases//42,468 european ancestry controls EFO_1000650 N/A Associate Breast cancer (estrogen-receptor negative) rs11820646-C of NONHSAT159884.1 is significantly associated with the breast cancer (estrogen-receptor negative) by using GWAS analysis in 14,135 european ancestry cases//58,126 european ancestry controls; 7,333 european ancestry cases//42,468 european ancestry controls(p-value = 2E-7 ;OR = 1.0638298). 0.4 Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer. NCRV0000003271 28334899 NONHSAT179793.1 rs7412 T N/A 32,285 east asian ancestry individuals//173,082 european ancestry individuals; 8,478 chinese ancestry individuals EFO_0000319 N/A Associate Ldl cholesterol levels rs7412-T of NONHSAT179793.1 is significantly associated with the ldl cholesterol levels by using GWAS analysis in 32,285 east asian ancestry individuals//173,082 european ancestry individuals; 8,478 chinese ancestry individuals(p-value = 2E-286 ;OR = 0.59). 0.4 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels. NCRV0000003757 28928442 NONHSAT113049.2 rs142690722 ? N/A 4,138 european ancestry cases//85,089 european ancestry controls EFO_0007904 N/A Associate Myringotomy rs142690722-? of NONHSAT113049.2 is significantly associated with the myringotomy by using GWAS analysis in 4,138 european ancestry cases//85,089 european ancestry controls(p-value = 4E-6 ;OR = 0.3977). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. NCRV0000001842 25993607 NONHSAT188477.1 rs35548558 T N/A up to 627 cilento (founder/genetic isolate) individuals//up to 2,296 erasmus rupchen (founder/genetic isolate) individuals//up to 1,650 orcadian (founder/genetic isolate) individuals//up to 909 vis (founder/genetic isolate) individuals//up to 58,179 european ancestry individuals; up to 9,786 european ancestry individuals EFO_0007660 N/A Associate Neuroticism rs35548558-T of NONHSAT188477.1 is significantly associated with the neuroticism by using GWAS analysis in up to 627 cilento (founder/genetic isolate) individuals//up to 2,296 erasmus rupchen (founder/genetic isolate) individuals//up to 1,650 orcadian (founder/genetic isolate) individuals//up to 909 vis (founder/genetic isolate) individuals//up to 58,179 european ancestry individuals; up to 9,786 european ancestry individuals(p-value = 4E-6 ;OR = 0.027). 0.4 Meta-analysis of Genome-wide Association Studies for Neuroticism, and the Polygenic Association With Major Depressive Disorder. NCRV0000000091 29059683 NONHSAT213598.1 rs2271032 G N/A 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls EFO_0000305 N/A Associate Breast cancer rs2271032-G of NONHSAT213598.1 is significantly associated with the breast cancer by using GWAS analysis in 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls(p-value = 8E-6 ;OR = 0.0407). 0.4 Association analysis identifies 65 new breast cancer risk loci. NCRV0000003020 27863252 NONHSAT053017.2 rs9906695 T N/A 170,494 european ancestry individuals EFO_0007989 N/A Associate Monocyte percentage of white cells rs9906695-T of NONHSAT053017.2 is significantly associated with the monocyte percentage of white cells by using GWAS analysis in 170,494 european ancestry individuals(p-value = 3E-11 ;OR = 0.02865212). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001117 23517042 NONHSAT189818.1 rs6097169 A N/A 6,025 european ancestry children//567 children// 6,334 european ancestry adult individuals//2,050 adult individuals EFO_0001073 in non-asthmatics Associate Body mass index in non-asthmatics rs6097169-A of NONHSAT189818.1 is significantly associated with the body mass index in non-asthmatics by using GWAS analysis in 6,025 european ancestry children//567 children// 6,334 european ancestry adult individuals//2,050 adult individuals(p-value = 5E-7 ;OR = ?). 0.4 Genome-wide association study of body mass index in 23 000 individuals with and without asthma. NCRV0000001353 29221444 NONHSAT047701.2 rs115620807 ? N/A 345 african american cases//346 african american controls; 137 african american cases//68 african american controls EFO_0004723 N/A Associate Coronary artery calcified atherosclerotic plaque (90 or 130 hu threshold) in type 2 diabetes rs115620807-? of NONHSAT047701.2 is significantly associated with the coronary artery calcified atherosclerotic plaque (90 or 130 hu threshold) in type 2 diabetes by using GWAS analysis in 345 african american cases//346 african american controls; 137 african american cases//68 african american controls(p-value = 7E-6 ;OR = 0.25). 0.4 Genome-wide association study of coronary artery calcified atherosclerotic plaque in African Americans with type 2 diabetes. NCRV0000001354 28703219 NONHSAT201363.1 rs1874564 G N/A 470 korean ancestry cases//8,279 korean ancestry controls; 615 korean ancestry cases//605 korean ancestry controls EFO_1002017 N/A Associate Differentiated thyroid cancer rs1874564-G of NONHSAT201363.1 is significantly associated with the differentiated thyroid cancer by using GWAS analysis in 470 korean ancestry cases//8,279 korean ancestry controls; 615 korean ancestry cases//605 korean ancestry controls(p-value = 2E-7 ;OR = 1.31). 0.4 Genome-wide association and expression quantitative trait loci studies identify multiple susceptibility loci for thyroid cancer. NCRV0000001399 25130324 NONHSAT214343.1 rs6947964 T N/A 1,778 european ancestry individuals//1,276 individuals EFO_0005852 N/A Associate Heschl's gyrus morphology rs6947964-T of NONHSAT214343.1 is significantly associated with the heschl's gyrus morphology by using GWAS analysis in 1,778 european ancestry individuals//1,276 individuals(p-value = 6E-6 ;OR = 0.034). 0.4 A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus. NCRV0000003144 28067908 NONHSAT191238.1 rs2823286 ? N/A 12,366 european and unknown ancestry cases//33,609 european and unknown ancestry controls EFO_0000729 N/A Associate Ulcerative colitis rs2823286-? of NONHSAT191238.1 is significantly associated with the ulcerative colitis by using GWAS analysis in 12,366 european and unknown ancestry cases//33,609 european and unknown ancestry controls(p-value = 2E-13 ;OR = ?). 0.4 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. NCRV0000003917 19270707 NONHSAT218889.1 rs987525 A N/A 224 european ancestry cases//383 european ancestry controls; 246 cases//954 controls MONDO_0000358 N/A Associate Orofacial clefts rs987525-A of NONHSAT218889.1 is significantly associated with the orofacial clefts by using GWAS analysis in 224 european ancestry cases//383 european ancestry controls; 246 cases//954 controls(p-value = 3E-24 ;OR = 2.57). 0.4 Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24. NCRV0000003045 22344221 NONHSAT131816.2 rs11142387 C N/A 26,620 japanese ancestry individuals; 35,625 east asian ancestry individuals EFO_0001073 N/A Associate Body mass index (snp x snp interaction) rs11142387-C of NONHSAT131816.2 is significantly associated with the body mass index (snp x snp interaction) by using GWAS analysis in 26,620 japanese ancestry individuals; 35,625 east asian ancestry individuals(p-value = 1E-9 ;OR = 0.04). 0.4 Common variants at CDKAL1 and KLF9 are associated with body mass index in east Asian populations. NCRV0000003479 26151821 NONHSAT159410.1 rs3824999 G N/A 18,299 european ancestry cases//19,656 european ancestry controls; 4,725 east asian ancestry cases//9,969 east asian ancestry controls EFO_0005842 N/A Associate Colorectal cancer rs3824999-G of NONHSAT159410.1 is significantly associated with the colorectal cancer by using GWAS analysis in 18,299 european ancestry cases//19,656 european ancestry controls; 4,725 east asian ancestry cases//9,969 east asian ancestry controls(p-value = 1E-6 ;OR = 1.0752687). 0.4 Genome-wide association study of colorectal cancer identifies six new susceptibility loci. NCRV0000000800 28928442 NONHSAT207237.1 rs4714291 ? N/A 52,487 european ancestry cases//22,017 european ancestry controls EFO_0008408 N/A Associate Strep throat rs4714291-? of NONHSAT207237.1 is significantly associated with the strep throat by using GWAS analysis in 52,487 european ancestry cases//22,017 european ancestry controls(p-value = 1E-6 ;OR = 0.0295). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. NCRV0000002506 21665990 NONHSAT060783.2 rs2230199 C N/A 2,594 european ancestry cases//4,134 european ancestry controls; 5,640 european ancestry cases//52,174 european ancestry controls EFO_0001365 N/A Associate Age-related macular degeneration rs2230199-C of NONHSAT060783.2 is significantly associated with the age-related macular degeneration by using GWAS analysis in 2,594 european ancestry cases//4,134 european ancestry controls; 5,640 european ancestry cases//52,174 european ancestry controls(p-value = 5E-29 ;OR = 1.53). 0.4 Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration. NCRV0000001883 20445134 NONHSAT161599.1 rs563519 ? N/A 20,926 european ancestry individuals//2,895 african ancestry individuals EFO_0003144 N/A Associate Heart failure rs563519-? of NONHSAT161599.1 is significantly associated with the heart failure by using GWAS analysis in 20,926 european ancestry individuals//2,895 african ancestry individuals(p-value = 3E-6 ;OR = 1.45). 0.4 Association of genome-wide variation with the risk of incident heart failure in adults of European and African ancestry: a prospective meta-analysis from the cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium. NCRV0000003173 19448621 NONHSAT105374.2 rs365132 T N/A 17,438 european ancestry female individuals EFO_0004704 N/A Associate Menarche and menopause (age at onset) rs365132-T of NONHSAT105374.2 is significantly associated with the menarche and menopause (age at onset) by using GWAS analysis in 17,438 european ancestry female individuals(p-value = 8E-14 ;OR = 0.39). 0.4 Genome-wide association studies identify loci associated with age at menarche and age at natural menopause. NCRV0000003045 24861553 NONHSAT131816.2 rs11142387 C N/A 82,438 east asian ancestry individuals//4,301 south east asian ancestry individuals; up to 47,352 east asian ancestry individuals EFO_0001073 N/A Associate Body mass index rs11142387-C of NONHSAT131816.2 is significantly associated with the body mass index by using GWAS analysis in 82,438 east asian ancestry individuals//4,301 south east asian ancestry individuals; up to 47,352 east asian ancestry individuals(p-value = 3E-8 ;OR = 0.0324). 0.4 Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index. NCRV0000001195 23455636 NONHSAT216850.1 rs13278062 T N/A 6,713 european ancestry cases//48,402 european ancestry contols//110 southern indian ancestry cases//119 southern indian ancestry controls//827 japanese ancestry cases//3,323 japanese ancestry controls; 9,070 european ancestry cases//7,683 european ancestry contols//461 east asian ancestry cases//547 east asian ancestry controls EFO_0001365 N/A Associate Age-related macular degeneration rs13278062-T of NONHSAT216850.1 is significantly associated with the age-related macular degeneration by using GWAS analysis in 6,713 european ancestry cases//48,402 european ancestry contols//110 southern indian ancestry cases//119 southern indian ancestry controls//827 japanese ancestry cases//3,323 japanese ancestry controls; 9,070 european ancestry cases//7,683 european ancestry contols//461 east asian ancestry cases//547 east asian ancestry controls(p-value = 3E-15 ;OR = 1.15). 0.4 Seven new loci associated with age-related macular degeneration. NCRV0000003948 27863252 NONHSAT004977.2 rs663045 C N/A 169,822 european ancestry individuals EFO_0007987 N/A Associate Granulocyte count rs663045-C of NONHSAT004977.2 is significantly associated with the granulocyte count by using GWAS analysis in 169,822 european ancestry individuals(p-value = 5E-11 ;OR = 0.02368156). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000878 26763874 NONHSAT150323.1 rs1819043 ? N/A 4,183 korean ancestry male individuals//4,659 korean ancestry female individuals; 935 korean ancestry individuals EFO_0004820 N/A Associate Sex ratio rs1819043-? of NONHSAT150323.1 is significantly associated with the sex ratio by using GWAS analysis in 4,183 korean ancestry male individuals//4,659 korean ancestry female individuals; 935 korean ancestry individuals(p-value = 3E-46 ;OR = 1.72). 0.4 Genome-wide association study reveals sex-specific selection signals against autosomal nucleotide variants. NCRV0000001271 27182965 NONHSAT209134.1 rs10223666 ? N/A 17,558 european ancestry cases//117,083 european ancestry controls EFO_0004705 N/A Associate Hypothyroidism rs10223666-? of NONHSAT209134.1 is significantly associated with the hypothyroidism by using GWAS analysis in 17,558 european ancestry cases//117,083 european ancestry controls(p-value = 5E-10 ;OR = 1.0905125). 0.4 Detection and interpretation of shared genetic influences on 42 human traits. NCRV0000000999 23517042 NONHSAT175312.1 rs8074700 A N/A 6,025 european ancestry children//567 children// 6,334 european ancestry adult individuals//2,050 adult individuals EFO_0001073 in non-asthmatics Associate Body mass index in non-asthmatics rs8074700-A of NONHSAT175312.1 is significantly associated with the body mass index in non-asthmatics by using GWAS analysis in 6,025 european ancestry children//567 children// 6,334 european ancestry adult individuals//2,050 adult individuals(p-value = 1E-6 ;OR = ?). 0.4 Genome-wide association study of body mass index in 23 000 individuals with and without asthma. NCRV0000003856 22354554 NONHSAT196142.1 rs4688011 T N/A 814 european ancestry cases//658 european ancestry controls//2,400 controls; 1,744 european ancestry cases//7,010 european ancestry controls EFO_0002609 N/A Associate Arthritis (juvenile idiopathic) rs4688011-T of NONHSAT196142.1 is significantly associated with the arthritis (juvenile idiopathic) by using GWAS analysis in 814 european ancestry cases//658 european ancestry controls//2,400 controls; 1,744 european ancestry cases//7,010 european ancestry controls(p-value = 1E-7 ;OR = 1.23). 0.4 Genome-wide association analysis of juvenile idiopathic arthritis identifies a new susceptibility locus at chromosomal region 3q13. NCRV0000001554 27989323 NONHSAT102043.2 rs115256310 G N/A 7,904 finnish ancestry individuals EFO_0000540 N/A Associate Granulocyte-colony stimulating factor levels rs115256310-G of NONHSAT102043.2 is significantly associated with the granulocyte-colony stimulating factor levels by using GWAS analysis in 7,904 finnish ancestry individuals(p-value = 7E-7 ;OR = 0.6821). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. NCRV0000001244 28084903 NONHSAT184541.1 rs151256649 ? N/A 123 european ancestry cases//1,345 european and unknown ancestry controls//1 middle eastern ancestry case; nr HP_0012735 angiotensin-converting enzyme inhibitor drugs Associate Cough in response to angiotensin-converting enzyme inhibitor drugs rs151256649-? of NONHSAT184541.1 is significantly associated with the cough in response to angiotensin-converting enzyme inhibitor drugs by using GWAS analysis in 123 european ancestry cases//1,345 european and unknown ancestry controls//1 middle eastern ancestry case; nr(p-value = 3E-7 ;OR = 16.11). 0.4 Genetic variants associated with angiotensin-converting enzyme inhibitor-induced cough: a genome-wide association study in a Swedish population. NCRV0000001682 25224454 NONHSAT092201.2 rs8177253 T N/A 2,347 african american individuals; 329 african american individuals EFO_0006334 N/A Associate Iron status biomarkers rs8177253-T of NONHSAT092201.2 is significantly associated with the iron status biomarkers by using GWAS analysis in 2,347 african american individuals; 329 african american individuals(p-value = 2E-47 ;OR = 19.86). 0.4 Genome-wide admixture and association study of serum iron, ferritin, transferrin saturation and total iron binding capacity in African Americans. NCRV0000003389 24952745 NONHSAT206373.1 rs10040989 A N/A up to 70,389 european ancestry individuals//up to 672 orcadian individuals; up to 33,316 european ancestry individuals EFO_0004278 N/A Associate Qt interval rs10040989-A of NONHSAT206373.1 is significantly associated with the qt interval by using GWAS analysis in up to 70,389 european ancestry individuals//up to 672 orcadian individuals; up to 33,316 european ancestry individuals(p-value = 5E-11 ;OR = 0.85). 0.4 Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. NCRV0000003447 20041166 NONHSAT210396.1 rs3763313 ? N/A 2,362 european ancestry cases EFO_0000180 N/A Associate Hiv-1 control rs3763313-? of NONHSAT210396.1 is significantly associated with the hiv-1 control by using GWAS analysis in 2,362 european ancestry cases(p-value = 2E-6 ;OR = ?). 0.4 Common genetic variation and the control of HIV-1 in humans. NCRV0000003378 17554300 NONHSAT171996.1 rs2398162 A N/A 1,952 european ancestry cases//2,938 european ancestry controls EFO_0000537 N/A Associate Hypertension rs2398162-A of NONHSAT171996.1 is significantly associated with the hypertension by using GWAS analysis in 1,952 european ancestry cases//2,938 european ancestry controls(p-value = 6E-6 ;OR = 1.31). 0.4 Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. NCRV0000001764 23251661 NONHSAT206072.1 rs17668565 G N/A 815 hispanic children from 263 families EFO_0005093 N/A Associate Obesity-related traits rs17668565-G of NONHSAT206072.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 7E-6 ;OR = 0.02). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. NCRV0000002077 28334899 NONHSAT193870.1 rs2013208 T N/A 34,930 east asian ancestry individuals//187,167 european ancestry individuals; 8,741 chinese ancestry individuals EFO_0000319 N/A Associate Hdl cholesterol levels rs2013208-T of NONHSAT193870.1 is significantly associated with the hdl cholesterol levels by using GWAS analysis in 34,930 east asian ancestry individuals//187,167 european ancestry individuals; 8,741 chinese ancestry individuals(p-value = 1E-12 ;OR = 0.0254). 0.4 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels. NCRV0000003067 25944848 NONHSAT165944.1 rs17066873 C N/A up to 185 european ancestry cases EFO_0003761 N/A Associate Pharmacokinetics of antiepileptic drugs in severe mental disorder (concentration drug ratio) rs17066873-C of NONHSAT165944.1 is significantly associated with the pharmacokinetics of antiepileptic drugs in severe mental disorder (concentration drug ratio) by using GWAS analysis in up to 185 european ancestry cases(p-value = 2E-7 ;OR = 0.9277). 0.4 Genome-wide association study identifies common variants associated with pharmacokinetics of psychotropic drugs. NCRV0000003434 20453838 NONHSAT173881.1 rs3803662 A N/A 3,659 european ancestry cases//4,897 european ancestry controls; 12,576 european ancestry cases//12,223 european ancestry controls EFO_0000305 N/A Associate Breast cancer rs3803662-A of NONHSAT173881.1 is significantly associated with the breast cancer by using GWAS analysis in 3,659 european ancestry cases//4,897 european ancestry controls; 12,576 european ancestry cases//12,223 european ancestry controls(p-value = 3E-15 ;OR = 1.3). 0.4 Genome-wide association study identifies five new breast cancer susceptibility loci. NCRV0000000667 27863252 NONHSAT188651.1 rs35786299 GA N/A 169,545 european ancestry individuals EFO_0007997 N/A Associate Granulocyte percentage of myeloid white cells rs35786299-GA of NONHSAT188651.1 is significantly associated with the granulocyte percentage of myeloid white cells by using GWAS analysis in 169,545 european ancestry individuals(p-value = 4E-15 ;OR = 0.02914055). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000144 17554300 NONHSAT210400.1 rs615672 ? N/A 1,860 european ancestry cases//2,938 european ancestry controls EFO_0000685 N/A Associate Rheumatoid arthritis rs615672-? of NONHSAT210400.1 is significantly associated with the rheumatoid arthritis by using GWAS analysis in 1,860 european ancestry cases//2,938 european ancestry controls(p-value = 8E-27 ;OR = ?). 0.4 Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. NCRV0000001003 21909109 NONHSAT181702.1 rs895636 A N/A 12,545 korean ancestry individuals; up to 30,395 east asian ancestry individuals EFO_0004465 N/A Associate Metabolite levels rs895636-A of NONHSAT181702.1 is significantly associated with the metabolite levels by using GWAS analysis in 12,545 korean ancestry individuals; up to 30,395 east asian ancestry individuals(p-value = 1E-12 ;OR = 0.0393). 0.4 Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits. NCRV0000002327 21079520 NONHSAT191827.1 rs1209950 T N/A 105 east asian ancestry cases EFO_0003060 N/A Associate Non-small cell lung cancer (survival) rs1209950-T of NONHSAT191827.1 is significantly associated with the non-small cell lung cancer (survival) by using GWAS analysis in 105 east asian ancestry cases(p-value = 3E-7 ;OR = 4.96). 0.4 Genome-wide association study on overall survival of advanced non-small cell lung cancer patients treated with carboplatin and paclitaxel. NCRV0000003854 27918536 NONHSAT204426.1 rs3814424 T N/A 76,551 european ancestry individuals; 46,581 european ancestry individuals EFO_0007912 N/A Associate Conscientiousness rs3814424-T of NONHSAT204426.1 is significantly associated with the conscientiousness by using GWAS analysis in 76,551 european ancestry individuals; 46,581 european ancestry individuals(p-value = 6E-7 ;OR = 0.289). 0.4 Genome-wide analyses for personality traits identify six genomic loci and show correlations with psychiatric disorders. NCRV0000001071 26853712 NONHSAT161279.1 rs11263613 G N/A 330 chinese ancestry left-side-affected cases//609 chinese ancestry right-side-affected cases//2,012 chinese ancestry controls; 151 chinese ancestry left-side-affected cases//292 chinese ancestry right-side-affected cases//1,669 chinese ancestry controls Orphanet_141136 N/A Associate Craniofacial microsomia rs11263613-G of NONHSAT161279.1 is significantly associated with the craniofacial microsomia by using GWAS analysis in 330 chinese ancestry left-side-affected cases//609 chinese ancestry right-side-affected cases//2,012 chinese ancestry controls; 151 chinese ancestry left-side-affected cases//292 chinese ancestry right-side-affected cases//1,669 chinese ancestry controls(p-value = 4E-17 ;OR = 1.68). 0.4 Genome-wide association study identifies multiple susceptibility loci for craniofacial microsomia. NCRV0000003355 24925725 NONHSAT207102.1 rs9263871 G N/A 588 european ancestry cases//1,412 european ancestry controls EFO_0005761 N/A Associate Lupus nephritis in systemic lupus erythematosus rs9263871-G of NONHSAT207102.1 is significantly associated with the lupus nephritis in systemic lupus erythematosus by using GWAS analysis in 588 european ancestry cases//1,412 european ancestry controls(p-value = 9E-6 ;OR = 1.7). 0.4 Lupus nephritis susceptibility loci in women with systemic lupus erythematosus. NCRV0000000603 26301497 NONHSAT037625.2 rs17767392 T N/A 1,442 european ancestry cases//2,439 european ancestry controls; 1,422 european ancestry cases//6,779 european ancestry controls HP_0001634 N/A Associate Mitral valve prolapse rs17767392-T of NONHSAT037625.2 is significantly associated with the mitral valve prolapse by using GWAS analysis in 1,442 european ancestry cases//2,439 european ancestry controls; 1,422 european ancestry cases//6,779 european ancestry controls(p-value = 2E-8 ;OR = 1.23). 0.4 Genetic association analyses highlight biological pathways underlying mitral valve prolapse. NCRV0000001492 18758461 NONHSAT159793.1 rs735665 A N/A 505 european ancestry cases//1,438 european ancestry controls; 1,024 european ancestry cases//1,677 european ancestry controls EFO_0000095 N/A Associate Chronic lymphocytic leukemia rs735665-A of NONHSAT159793.1 is significantly associated with the chronic lymphocytic leukemia by using GWAS analysis in 505 european ancestry cases//1,438 european ancestry controls; 1,024 european ancestry cases//1,677 european ancestry controls(p-value = 4E-12 ;OR = 1.45). 0.4 A genome-wide association study identifies six susceptibility loci for chronic lymphocytic leukemia. NCRV0000000529 27424798 NONHSAT023550.2 rs1126809 A N/A 6,579 european ancestry cases//280,558 european ancestry controls; 825 european ancestry cases//11,518 european ancestry controls EFO_1001927 N/A Associate Cutaneous squamous cell carcinoma rs1126809-A of NONHSAT023550.2 is significantly associated with the cutaneous squamous cell carcinoma by using GWAS analysis in 6,579 european ancestry cases//280,558 european ancestry controls; 825 european ancestry cases//11,518 european ancestry controls(p-value = 3E-14 ;OR = 1.16). 0.4 Genome-wide association study identifies novel susceptibility loci for cutaneous squamous cell carcinoma. NCRV0000001899 28090653 NONHSAT183890.1 rs113941845 A N/A up to 488 european ancestry cases//up to 111 african american cases//up to 60 hispanic cases//up to 56 other ancestry cases EFO_0000220 N/A Associate Alanine aminotransferase (alt) levels after remission induction therapy in actute lymphoblastic leukemia (all) rs113941845-A of NONHSAT183890.1 is significantly associated with the alanine aminotransferase (alt) levels after remission induction therapy in actute lymphoblastic leukemia (all) by using GWAS analysis in up to 488 european ancestry cases//up to 111 african american cases//up to 60 hispanic cases//up to 56 other ancestry cases(p-value = 4E-6 ;OR = 1.24). 0.4 Genome-Wide Study Links PNPLA3 Variant With Elevated Hepatic Transaminase After Acute Lymphoblastic Leukemia Therapy. NCRV0000002338 26805783 NONHSAT180207.1 rs8109288 G N/A 12,491 hispanic/latin american individuals; 7,170 hispanic/latin american individuals EFO_0004309 N/A Associate Platelet count rs8109288-G of NONHSAT180207.1 is significantly associated with the platelet count by using GWAS analysis in 12,491 hispanic/latin american individuals; 7,170 hispanic/latin american individuals(p-value = 2E-8 ;OR = 13.83). 0.4 Genome-wide Association Study of Platelet Count Identifies Ancestry-Specific Loci in Hispanic/Latino Americans. NCRV0000002051 29221444 NONHSAT172027.1 rs7495211 ? N/A 345 african american cases//346 african american controls; 137 african american cases//68 african american controls EFO_0004723 N/A Associate Coronary artery calcified atherosclerotic plaque (130 hu threshold) in type 2 diabetes rs7495211-? of NONHSAT172027.1 is significantly associated with the coronary artery calcified atherosclerotic plaque (130 hu threshold) in type 2 diabetes by using GWAS analysis in 345 african american cases//346 african american controls; 137 african american cases//68 african american controls(p-value = 7E-6 ;OR = 0.268). 0.4 Genome-wide association study of coronary artery calcified atherosclerotic plaque in African Americans with type 2 diabetes. NCRV0000003031 26249676 NONHSAT047766.2 rs1466921 T N/A 113 schizophrenia cases//126 controls EFO_0000692 N/A Associate Left superior temporal gyrus thickness (schizophrenia interaction) rs1466921-T of NONHSAT047766.2 is significantly associated with the left superior temporal gyrus thickness (schizophrenia interaction) by using GWAS analysis in 113 schizophrenia cases//126 controls(p-value = 9E-7 ;OR = 0.353). 0.4 Genetic underpinnings of left superior temporal gyrus thickness in patients with schizophrenia. NCRV0000002347 25673413 NONHSAT141480.2 rs2650492 A N/A up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals EFO_0001073 N/A Associate Body mass index rs2650492-A of NONHSAT141480.2 is significantly associated with the body mass index by using GWAS analysis in up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals(p-value = 2E-9 ;OR = 0.021). 0.4 Genetic studies of body mass index yield new insights for obesity biology. NCRV0000000718 27082954 NONHSAT156135.1 rs499832 C N/A 104 european ancestry cases//1,519 european ancestry controls//34 african american cases//520 african american controls EFO_0004265 traffic-related air pollution interaction Associate Peripheral arterial disease (traffic-related air pollution interaction) rs499832-C of NONHSAT156135.1 is significantly associated with the peripheral arterial disease (traffic-related air pollution interaction) by using GWAS analysis in 104 european ancestry cases//1,519 european ancestry controls//34 african american cases//520 african american controls(p-value = 2E-7 ;OR = 6.66). 0.4 Genetic Variants in the Bone Morphogenic Protein Gene Family Modify the Association between Residential Exposure to Traffic and Peripheral Arterial Disease. NCRV0000002091 26227905 NONHSAT036685.2 rs9323124 ? N/A 250 han chinese ancestry cases//250 han chinese ancestry controls EFO_0002508 N/A Associate Parkinson's disease rs9323124-? of NONHSAT036685.2 is significantly associated with the parkinson's disease by using GWAS analysis in 250 han chinese ancestry cases//250 han chinese ancestry controls(p-value = 1E-6 ;OR = 3.97). 0.4 A Pooling Genome-Wide Association Study Combining a Pathway Analysis for Typical Sporadic Parkinson's Disease in the Han Population of Chinese Mainland. NCRV0000003710 26634245 NONHSAT047577.2 rs16969968 ? N/A 6,659 european ancestry current and former smoker individuals EFO_0003892 N/A Associate Pre bronchodilator fev1/fvc ratio rs16969968-? of NONHSAT047577.2 is significantly associated with the pre bronchodilator fev1/fvc ratio by using GWAS analysis in 6,659 european ancestry current and former smoker individuals(p-value = 2E-10 ;OR = 0.01709). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000001230 27863252 NONHSAT004977.2 rs663045 C N/A 169,545 european ancestry individuals EFO_0007997 N/A Associate Granulocyte percentage of myeloid white cells rs663045-C of NONHSAT004977.2 is significantly associated with the granulocyte percentage of myeloid white cells by using GWAS analysis in 169,545 european ancestry individuals(p-value = 4E-10 ;OR = 0.02248371). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003646 23870195 NONHSAT078026.2 rs749924 T N/A 5,823 african american individuals; 9,992 european ancestry individuals EFO_0004723 N/A Associate Coronary artery calcification rs749924-T of NONHSAT078026.2 is significantly associated with the coronary artery calcification by using GWAS analysis in 5,823 african american individuals; 9,992 european ancestry individuals(p-value = 1E-7 ;OR = 0.19). 0.4 Genetics of coronary artery calcification among African Americans, a meta-analysis. NCRV0000002333 23776548 NONHSAT175635.1 rs3744061 G N/A 18,722 european ancestry individuals; 3,939 european ancestry individuals EFO_0004731 N/A Associate Retinal arteriolar caliber rs3744061-G of NONHSAT175635.1 is significantly associated with the retinal arteriolar caliber by using GWAS analysis in 18,722 european ancestry individuals; 3,939 european ancestry individuals(p-value = 2E-10 ;OR = 0.86). 0.4 Genetic loci for retinal arteriolar microcirculation. NCRV0000000532 22367966 NONHSAT067101.2 rs1047781 ? N/A 1,999 han chinese ancestry individuals; 1,496 chinese ancestry individuals EFO_0004620 N/A Associate Vitamin b12 levels rs1047781-? of NONHSAT067101.2 is significantly associated with the vitamin b12 levels by using GWAS analysis in 1,999 han chinese ancestry individuals; 1,496 chinese ancestry individuals(p-value = 4E-36 ;OR = 70.21). 0.4 Genome-wide association study identifies novel loci associated with serum level of vitamin B12 in Chinese men. NCRV0000000576 20811658 NONHSAT169481.1 rs7159300 ? N/A 369 european ancestry individuals EFO_0004319 N/A Associate Smoking cessation rs7159300-? of NONHSAT169481.1 is significantly associated with the smoking cessation by using GWAS analysis in 369 european ancestry individuals(p-value = 4E-6 ;OR = ?). 0.4 Genome-wide association for smoking cessation success in a trial of precessation nicotine replacement. NCRV0000002746 22589738 NONHSAT219827.1 rs10992471 G N/A 5,560 european ancestry female individuals//4,997 european ancestry male individuals EFO_0004767 N/A Associate Visceral adipose tissue/subcutaneous adipose tissue ratio rs10992471-G of NONHSAT219827.1 is significantly associated with the visceral adipose tissue/subcutaneous adipose tissue ratio by using GWAS analysis in 5,560 european ancestry female individuals//4,997 european ancestry male individuals(p-value = 2E-6 ;OR = ?). 0.4 Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. NCRV0000002012 27863252 NONHSAT217648.1 rs1982094 T N/A 169,822 european ancestry individuals EFO_0007987 N/A Associate Granulocyte count rs1982094-T of NONHSAT217648.1 is significantly associated with the granulocyte count by using GWAS analysis in 169,822 european ancestry individuals(p-value = 4E-16 ;OR = 0.07377733). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003882 28067908 NONHSAT203343.1 rs6863411 ? N/A 12,194 european and unknown ancestry cases//28,072 european and unknown ancestry controls EFO_0000384 N/A Associate Crohn's disease rs6863411-? of NONHSAT203343.1 is significantly associated with the crohn's disease by using GWAS analysis in 12,194 european and unknown ancestry cases//28,072 european and unknown ancestry controls(p-value = 7E-12 ;OR = ?). 0.4 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. NCRV0000003167 23544013 NONHSAT099095.2 rs4691139 G N/A 683 european ancestry cases//2,044 european ancestry controls; 1,706 european ancestry cases//10,258 european ancestry controls EFO_0001075 N/A Associate Ovarian cancer in brca1 mutation carriers rs4691139-G of NONHSAT099095.2 is significantly associated with the ovarian cancer in brca1 mutation carriers by using GWAS analysis in 683 european ancestry cases//2,044 european ancestry controls; 1,706 european ancestry cases//10,258 european ancestry controls(p-value = 3E-8 ;OR = 1.2). 0.4 Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. NCRV0000000123 26545240 NONHSAT193321.1 rs7290192 A N/A 793 african american cases//948 african american controls//606 hispanic cases//305 hispanic controls EFO_0004710 N/A Associate Pelvic organ prolapse rs7290192-A of NONHSAT193321.1 is significantly associated with the pelvic organ prolapse by using GWAS analysis in 793 african american cases//948 african american controls//606 hispanic cases//305 hispanic controls(p-value = 7E-6 ;OR = 1.754386). 0.4 Genetic Determinants of Pelvic Organ Prolapse among African American and Hispanic Women in the Women's Health Initiative. NCRV0000002726 28736931 NONHSAT171396.1 rs76043556 ? N/A 781 european ancestry individuals//138 african american ancestry individuals//345 unknown ancestry individuals; EFO_0001360 fenofibrate Associate Total cholesterol change in response to fenofibrate in statin-treated type 2 diabetes rs76043556-? of NONHSAT171396.1 is significantly associated with the total cholesterol change in response to fenofibrate in statin-treated type 2 diabetes by using GWAS analysis in 781 european ancestry individuals//138 african american ancestry individuals//345 unknown ancestry individuals; (p-value = 7E-7 ;OR = 0.058). 0.4 Genetic Variants in HSD17B3, SMAD3, and IPO11 Impact Circulating Lipids in Response to Fenofibrate in Individuals With Type 2 Diabetes. NCRV0000000090 25282103 NONHSAT188193.1 rs749052 T N/A 253,288 european ancestry individuals; 80,067 european ancestry individuals EFO_0004339 N/A Associate Height rs749052-T of NONHSAT188193.1 is significantly associated with the height by using GWAS analysis in 253,288 european ancestry individuals; 80,067 european ancestry individuals(p-value = 2E-26 ;OR = 0.067). 0.4 Defining the role of common variation in the genomic and biological architecture of adult human height. NCRV0000000951 26198764 NONHSAT006310.2 rs72700829 C N/A 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls EFO_0000692 N/A Associate Schizophrenia rs72700829-C of NONHSAT006310.2 is significantly associated with the schizophrenia by using GWAS analysis in 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls(p-value = 3E-8 ;OR = 1.1363636). 0.4 Genome-wide association study of schizophrenia in Ashkenazi Jews. NCRV0000001786 28183528 NONHSAT179794.1 rs483082 T N/A 13,100 european ancestry cases//13,220 european ancestry controls//1,472 african american cases//3,511 african american controls//951 japanese ancestry cases//894 japanese ancestry controls//51 israeli-arab ancestry cases//64 israeli-arab ancestry controls; 5,813 european ancestry cases//20,474 european ancestry controls EFO_0000249 N/A Associate Alzheimer's disease rs483082-T of NONHSAT179794.1 is significantly associated with the alzheimer's disease by using GWAS analysis in 13,100 european ancestry cases//13,220 european ancestry controls//1,472 african american cases//3,511 african american controls//951 japanese ancestry cases//894 japanese ancestry controls//51 israeli-arab ancestry cases//64 israeli-arab ancestry controls; 5,813 european ancestry cases//20,474 european ancestry controls(p-value = 1E-15 ;OR = 2.8). 0.4 Transethnic genome-wide scan identifies novel Alzheimer's disease loci. NCRV0000002122 28443625 NONHSAT168677.1 rs7141420 T N/A 98,173 european ancestry women//64,373 european ancestry men//5,829 european ancestry individuals//10,500 african american/afro-caribbean ancestry women//2,706 african american/afro-caribbean ancestry men//1,030 indian asian ancestry women//7,648 indian asian ancestry men//1,793 filipino ancestry women//2,944 hispanic/latino ancestry women//1,764 hispanic/latino ancestry men; 21,496 european ancestry women//24,385 european ancestry men//118,364 european ancestry individuals//2,326 african american/afro-caribbean ancestry women//855 african american/afro-caribbean ancestry men EFO_0001073 adjusted for smoking behaviour Associate Bmi (adjusted for smoking behaviour) rs7141420-T of NONHSAT168677.1 is significantly associated with the bmi (adjusted for smoking behaviour) by using GWAS analysis in 98,173 european ancestry women//64,373 european ancestry men//5,829 european ancestry individuals//10,500 african american/afro-caribbean ancestry women//2,706 african american/afro-caribbean ancestry men//1,030 indian asian ancestry women//7,648 indian asian ancestry men//1,793 filipino ancestry women//2,944 hispanic/latino ancestry women//1,764 hispanic/latino ancestry men; 21,496 european ancestry women//24,385 european ancestry men//118,364 european ancestry individuals//2,326 african american/afro-caribbean ancestry women//855 african american/afro-caribbean ancestry men(p-value = 3E-11 ;OR = 0.0278). 0.4 Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. NCRV0000000774 21738484 NONHSAT171766.1 rs1038094 G N/A 1,190 european and unknown ancestry cases//401 european and unknown ancestry controls; 16,179 individuals EFO_0000289 N/A Associate Bipolar disorder rs1038094-G of NONHSAT171766.1 is significantly associated with the bipolar disorder by using GWAS analysis in 1,190 european and unknown ancestry cases//401 european and unknown ancestry controls; 16,179 individuals(p-value = 9E-6 ;OR = 1.27). 0.4 Genome-wide association of bipolar disorder suggests an enrichment of replicable associations in regions near genes. NCRV0000000595 27863252 NONHSAT176124.1 rs112346425 C N/A 164,454 european ancestry individuals EFO_0004584 N/A Associate Mean platelet volume rs112346425-C of NONHSAT176124.1 is significantly associated with the mean platelet volume by using GWAS analysis in 164,454 european ancestry individuals(p-value = 6E-31 ;OR = 0.1097456). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000163 26420894 NONHSAT208063.1 rs10872424 T N/A up to 744 central european ancestry child cases//up to 397 turkish ancestry child cases EFO_0003884 N/A Associate Glomerular filtration rate in chronic kidney disease rs10872424-T of NONHSAT208063.1 is significantly associated with the glomerular filtration rate in chronic kidney disease by using GWAS analysis in up to 744 central european ancestry child cases//up to 397 turkish ancestry child cases(p-value = 4E-6 ;OR = 0.12). 0.4 Genetic loci associated with renal function measures and chronic kidney disease in children: the Pediatric Investigation for Genetic Factors Linked with Renal Progression Consortium. NCRV0000002011 27989323 NONHSAT097093.2 rs183725142 G N/A 3,685 finnish ancestry individuals EFO_0005140 N/A Associate Interferon gamma-induced protein 10 levels rs183725142-G of NONHSAT097093.2 is significantly associated with the interferon gamma-induced protein 10 levels by using GWAS analysis in 3,685 finnish ancestry individuals(p-value = 3E-6 ;OR = 0.6188). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. NCRV0000002929 22036096 NONHSAT207123.1 rs7775228 C N/A 2,315 european ancestry cases//10,032 european ancestry controls EFO_0003956 N/A Associate Ige grass sensitization rs7775228-C of NONHSAT207123.1 is significantly associated with the ige grass sensitization by using GWAS analysis in 2,315 european ancestry cases//10,032 european ancestry controls(p-value = 2E-9 ;OR = 1.33). 0.4 A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order. NCRV0000003769 28991256 NONHSAT006300.2 rs12129037 T N/A 7,699 chinese ancestry cases//35,476 european ancestry cases//18,327 chinese ancestry controls//46,839 european ancestry controls; 4,384 chinese ancestry cases//5,770 chinese ancestry controls EFO_0000692 N/A Associate Schizophrenia rs12129037-T of NONHSAT006300.2 is significantly associated with the schizophrenia by using GWAS analysis in 7,699 chinese ancestry cases//35,476 european ancestry cases//18,327 chinese ancestry controls//46,839 european ancestry controls; 4,384 chinese ancestry cases//5,770 chinese ancestry controls(p-value = 5E-9 ;OR = 1.096). 0.4 Genome-wide association analysis identifies 30 new susceptibility loci for schizophrenia. NCRV0000002721 27182965 NONHSAT157380.1 rs10748781 ? N/A 17,558 european ancestry cases//117,083 european ancestry controls EFO_0004705 N/A Associate Hypothyroidism rs10748781-? of NONHSAT157380.1 is significantly associated with the hypothyroidism by using GWAS analysis in 17,558 european ancestry cases//117,083 european ancestry controls(p-value = 1E-10 ;OR = 1.088). 0.4 Detection and interpretation of shared genetic influences on 42 human traits. NCRV0000003468 23535732 NONHSAT159596.1 rs11568818 A N/A 11,085 european ancestry cases//11,463 european ancestry controls; 19,662 european ancestry cases//19,715 european ancestry controls EFO_0001663 N/A Associate Prostate cancer rs11568818-A of NONHSAT159596.1 is significantly associated with the prostate cancer by using GWAS analysis in 11,085 european ancestry cases//11,463 european ancestry controls; 19,662 european ancestry cases//19,715 european ancestry controls(p-value = 2E-11 ;OR = 1.1). 0.4 Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. NCRV0000002681 26192919 NONHSAT157380.1 rs10748781 ? N/A 12,882 european ancestry cases//21,770 european ancestry controls; 25,273 european ancestry cases//26,715 european ancestry controls//548 iranian ancestry cases//342 iranian ancestry control//1,423 indian ancestry cases//990 indian ancestry controls//2,824 east asian ancestry cases//3,719 east asian ancestry controls EFO_0003767 N/A Associate Inflammatory bowel disease rs10748781-? of NONHSAT157380.1 is significantly associated with the inflammatory bowel disease by using GWAS analysis in 12,882 european ancestry cases//21,770 european ancestry controls; 25,273 european ancestry cases//26,715 european ancestry controls//548 iranian ancestry cases//342 iranian ancestry control//1,423 indian ancestry cases//990 indian ancestry controls//2,824 east asian ancestry cases//3,719 east asian ancestry controls(p-value = 2E-63 ;OR = ?). 0.4 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. NCRV0000003873 19801982 NONHSAT174674.1 rs10048146 G N/A 19,195 european ancestry individuals EFO_0007701 N/A Associate Bone mineral density (spine) rs10048146-G of NONHSAT174674.1 is significantly associated with the bone mineral density (spine) by using GWAS analysis in 19,195 european ancestry individuals(p-value = 2E-8 ;OR = 0.09). 0.4 Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies. NCRV0000002435 22960999 NONHSAT192221.1 rs2239815 T N/A 2,031 han chinese ancestry cases//2,044 han chinese ancestry controls; 8,092 chinese ancestry cases//8,620 chinese ancestry controls EFO_0005922 N/A Associate Esophageal cancer (squamous cell) rs2239815-T of NONHSAT192221.1 is significantly associated with the esophageal cancer (squamous cell) by using GWAS analysis in 2,031 han chinese ancestry cases//2,044 han chinese ancestry controls; 8,092 chinese ancestry cases//8,620 chinese ancestry controls(p-value = 4E-15 ;OR = 1.18). 0.4 Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions. NCRV0000000429 25811787 NONHSAT218739.1 rs3115775 C N/A 4,613 european ancestry male individuals//4,690 european ancestry female individuals//142 european ancestry individuals EFO_0004531 N/A Associate Urate levels in obese individuals rs3115775-C of NONHSAT218739.1 is significantly associated with the urate levels in obese individuals by using GWAS analysis in 4,613 european ancestry male individuals//4,690 european ancestry female individuals//142 european ancestry individuals(p-value = 8E-6 ;OR = 0.18). 0.4 Modulation of genetic associations with serum urate levels by body-mass-index in humans. NCRV0000000053 19801982 NONHSAT174674.1 rs10048146 G N/A 19,195 european ancestry individuals EFO_0007702 N/A Associate Bone mineral density (hip) rs10048146-G of NONHSAT174674.1 is significantly associated with the bone mineral density (hip) by using GWAS analysis in 19,195 european ancestry individuals(p-value = 2E-7 ;OR = 0.09). 0.4 Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies. NCRV0000002859 28928442 NONHSAT168705.1 rs182698104 ? N/A 60,098 european ancestry cases//113,323 european ancestry controls EFO_0007924 N/A Associate Tonsillectomy rs182698104-? of NONHSAT168705.1 is significantly associated with the tonsillectomy by using GWAS analysis in 60,098 european ancestry cases//113,323 european ancestry controls(p-value = 5E-6 ;OR = 0.5535). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. NCRV0000003459 28199695 NONHSAT108751.2 rs1634794 T N/A 41,355 european ancestry men and 43,369 european ancestry women EFO_0008377 N/A Associate Itch intensity from mosquito bite adjusted by bite size rs1634794-T of NONHSAT108751.2 is significantly associated with the itch intensity from mosquito bite adjusted by bite size by using GWAS analysis in 41,355 european ancestry men and 43,369 european ancestry women(p-value = 7E-10 ;OR = 0.0287016). 0.4 GWAS of self-reported mosquito bite size, itch intensity and attractiveness to mosquitoes implicates immune-related predisposition loci. NCRV0000001778 27863252 NONHSAT151288.1 rs1043879 C N/A 172,851 european ancestry individuals EFO_0004527 N/A Associate Mean corpuscular hemoglobin concentration rs1043879-C of NONHSAT151288.1 is significantly associated with the mean corpuscular hemoglobin concentration by using GWAS analysis in 172,851 european ancestry individuals(p-value = 3E-13 ;OR = 0.02916971). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000545 21502573 NONHSAT199265.1 rs13109457 A N/A 21,052 european ancestry individuals EFO_0004507 N/A Associate D-dimer levels rs13109457-A of NONHSAT199265.1 is significantly associated with the d-dimer levels by using GWAS analysis in 21,052 european ancestry individuals(p-value = 3E-18 ;OR = 6.3). 0.4 Genetic predictors of fibrin D-dimer levels in healthy adults. NCRV0000001285 26098869 NONHSAT149606.1 rs351365 C N/A 7,638 cases//7,364 controls; 2,287 cases//4,205 controls EFO_0002618 N/A Associate Pancreatic cancer rs351365-C of NONHSAT149606.1 is significantly associated with the pancreatic cancer by using GWAS analysis in 7,638 cases//7,364 controls; 2,287 cases//4,205 controls(p-value = 7E-7 ;OR = 1.1235955). 0.4 Common variation at 2p13.3, 3q29, 7p13 and 17q25.1 associated with susceptibility to pancreatic cancer. NCRV0000003470 28928442 NONHSAT067101.2 rs281377 ? N/A 52,218 european ancestry cases//10,235 european ancestry controls EFO_0008412 N/A Associate Yeast infection rs281377-? of NONHSAT067101.2 is significantly associated with the yeast infection by using GWAS analysis in 52,218 european ancestry cases//10,235 european ancestry controls(p-value = 5E-7 ;OR = 0.0321). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. NCRV0000001424 28604730 NONHSAT047580.2 rs8040868 C N/A 7,426 european ancestry cases//55,627 european ancestry controls EFO_0000708 N/A Associate Squamous cell lung carcinoma rs8040868-C of NONHSAT047580.2 is significantly associated with the squamous cell lung carcinoma by using GWAS analysis in 7,426 european ancestry cases//55,627 european ancestry controls(p-value = 3E-41 ;OR = 1.2904406). 0.4 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. NCRV0000000168 20195266 NONHSAT177958.1 rs11663206 ? N/A 421 european ancestry//214 african american//and 103 cases GO_0097336 N/A Associate Response to antipsychotic treatment rs11663206-? of NONHSAT177958.1 is significantly associated with the response to antipsychotic treatment by using GWAS analysis in 421 european ancestry//214 african american//and 103 cases(p-value = 2E-6 ;OR = ?). 0.4 Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs. NCRV0000003194 22491018 NONHSAT171196.1 rs7164176 ? N/A 1,157 european and other ancestry rheumatoid arthritis cases; 526 european and other ancestry rheumatoid arthritis cases EFO_0000685 tocilizumab Associate Response to tocilizumab in rheumatoid arthritis rs7164176-? of NONHSAT171196.1 is significantly associated with the response to tocilizumab in rheumatoid arthritis by using GWAS analysis in 1,157 european and other ancestry rheumatoid arthritis cases; 526 european and other ancestry rheumatoid arthritis cases(p-value = 5E-7 ;OR = 0.28). 0.4 Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis. NCRV0000002506 22705344 NONHSAT060783.2 rs2230199 C N/A 819 european ancestry geographic atrophy cases//4,134 european ancestry controls EFO_0001365 N/A Associate Age-related macular degeneration (cnv) rs2230199-C of NONHSAT060783.2 is significantly associated with the age-related macular degeneration (cnv) by using GWAS analysis in 819 european ancestry geographic atrophy cases//4,134 european ancestry controls(p-value = 1E-12 ;OR = 1.61). 0.4 Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes. NCRV0000000282 26049409 NONHSAT177338.1 rs1992269 A N/A 489 japanese ancestry apoe-¦Å4 noncarrier cases//6,463 japanese ancestry apoe-¦Å4 noncarrier controls//323 japanese ancestry apoe-¦Å4 carrier cases//1,484 japanese ancestry apoe-¦Å4 carrier controls//4 japanese ancestry cases//45 japanese ancestry controls; 528 japanese ancestry apoe-¦Å4 noncarrier cases//5,824 japanese ancestry apoe-¦Å4 noncarrier controls//480 japanese ancestry apoe-¦Å4 carrier cases//1,364 japanese ancestry apoe-¦Å4 carrier controls//3 japanese ancestry cases//24 japanese ancestry controls EFO_0000249 N/A Associate Alzheimer's disease (late onset) rs1992269-A of NONHSAT177338.1 is significantly associated with the alzheimer's disease (late onset) by using GWAS analysis in 489 japanese ancestry apoe-¦Å4 noncarrier cases//6,463 japanese ancestry apoe-¦Å4 noncarrier controls//323 japanese ancestry apoe-¦Å4 carrier cases//1,484 japanese ancestry apoe-¦Å4 carrier controls//4 japanese ancestry cases//45 japanese ancestry controls; 528 japanese ancestry apoe-¦Å4 noncarrier cases//5,824 japanese ancestry apoe-¦Å4 noncarrier controls//480 japanese ancestry apoe-¦Å4 carrier cases//1,364 japanese ancestry apoe-¦Å4 carrier controls//3 japanese ancestry cases//24 japanese ancestry controls(p-value = 1E-6 ;OR = 1.66). 0.4 A genome-wide association study of late-onset Alzheimer's disease in a Japanese population. NCRV0000002995 29059683 NONHSAT159884.1 rs11820646 C N/A 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls EFO_0000305 N/A Associate Breast cancer rs11820646-C of NONHSAT159884.1 is significantly associated with the breast cancer by using GWAS analysis in 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls(p-value = 2E-14 ;OR = 1.0416667). 0.4 Association analysis identifies 65 new breast cancer risk loci. NCRV0000001312 26626624 NONHSAT163610.1 rs2020854 T N/A 1,946 european ancestry cases//4,934 european ancestry controls; up to 2,883 european ancestry cases//up to 14,179 european ancestry controls EFO_0003778 N/A Associate Psoriatic arthritis rs2020854-T of NONHSAT163610.1 is significantly associated with the psoriatic arthritis by using GWAS analysis in 1,946 european ancestry cases//4,934 european ancestry controls; up to 2,883 european ancestry cases//up to 14,179 european ancestry controls(p-value = 5E-6 ;OR = 1.395). 0.4 Genome-wide Association Analysis of Psoriatic Arthritis and Cutaneous Psoriasis Reveals Differences in Their Genetic Architecture. NCRV0000003848 26621817 NONHSAT028182.2 rs12817211 C N/A 5,725 european ancestry colorectal carcinoma cases//2,212 european ancestry endometrial carcinoma cases//13,396 european ancestry controls EFO_0005842 N/A Associate Colorectal or endometrial cancer rs12817211-C of NONHSAT028182.2 is significantly associated with the colorectal or endometrial cancer by using GWAS analysis in 5,725 european ancestry colorectal carcinoma cases//2,212 european ancestry endometrial carcinoma cases//13,396 european ancestry controls(p-value = 3E-6 ;OR = 1.12). 0.4 Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1. NCRV0000001681 26242244 NONHSAT219096.1 rs279910 ? N/A 128 han chinese ancestry cases EFO_0007700 N/A Associate Exploratory eye movement dysfunction in schizophrenia (responsive search score) rs279910-? of NONHSAT219096.1 is significantly associated with the exploratory eye movement dysfunction in schizophrenia (responsive search score) by using GWAS analysis in 128 han chinese ancestry cases(p-value = 3E-6 ;OR = 1.571). 0.4 Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia. NCRV0000002475 28928442 NONHSAT207041.1 rs115166140 ? N/A 16,711 european ancestry cases//118,152 european ancestry controls EFO_0008401 N/A Associate Shingles rs115166140-? of NONHSAT207041.1 is significantly associated with the shingles by using GWAS analysis in 16,711 european ancestry cases//118,152 european ancestry controls(p-value = 1E-9 ;OR = 0.1623). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. NCRV0000003546 26818947 NONHSAT170687.1 rs67839313 C N/A 15,463 japanese ancestry cases//26,183 japanese ancestry controls; 20,490 east asian ancestry cases//22,922 east asian ancestry controls//38,947 european ancestry cases//121,903 european ancestry controls//10,587 south asian ancestry cases//14,378 south asian ancestry controls//3,848 mexican/latino cases//4,366 mexican/latino controls EFO_0001360 N/A Associate Type 2 diabetes rs67839313-C of NONHSAT170687.1 is significantly associated with the type 2 diabetes by using GWAS analysis in 15,463 japanese ancestry cases//26,183 japanese ancestry controls; 20,490 east asian ancestry cases//22,922 east asian ancestry controls//38,947 european ancestry cases//121,903 european ancestry controls//10,587 south asian ancestry cases//14,378 south asian ancestry controls//3,848 mexican/latino cases//4,366 mexican/latino controls(p-value = 2E-8 ;OR = 1.09). 0.4 Genome-wide association studies in the Japanese population identify seven novel loci for type 2 diabetes. NCRV0000000084 25918132 NONHSAT116181.2 rs116146467 A N/A 74 european ancestry cases//824 european ancestry controls EFO_0000270 N/A Associate Diisocyanate-induced asthma rs116146467-A of NONHSAT116181.2 is significantly associated with the diisocyanate-induced asthma by using GWAS analysis in 74 european ancestry cases//824 european ancestry controls(p-value = 9E-7 ;OR = 5.61). 0.4 Genome-Wide Association Study Identifies Novel Loci Associated With Diisocyanate-Induced Occupational Asthma. NCRV0000002763 25628336 NONHSAT206765.1 rs2153535 G N/A 80,494 european ancestry individuals EFO_0006928 N/A Associate Motion sickness rs2153535-G of NONHSAT206765.1 is significantly associated with the motion sickness by using GWAS analysis in 80,494 european ancestry individuals(p-value = 3E-18 ;OR = 0.046). 0.4 Genetic variants associated with motion sickness point to roles for inner ear development, neurological processes and glucose homeostasis. NCRV0000000956 28120872 NONHSAT039249.2 rs1742101 G N/A 66 han chinese ancestry non-responder cases//160 han chinese ancestry responder cases; 79 han chinese ancestry non-responder cases//291 han chinese ancestry responder cases EFO_0001061 platinum-based neoadjuvant chemotherapy Associate Response to platinum-based neoadjuvant chemotherapy in cervical cancer rs1742101-G of NONHSAT039249.2 is significantly associated with the response to platinum-based neoadjuvant chemotherapy in cervical cancer by using GWAS analysis in 66 han chinese ancestry non-responder cases//160 han chinese ancestry responder cases; 79 han chinese ancestry non-responder cases//291 han chinese ancestry responder cases(p-value = 7E-6 ;OR = 1.92). 0.4 Genome-wide association study identifies four SNPs associated with response to platinum-based neoadjuvant chemotherapy for cervical cancer. NCRV0000000093 26198764 NONHSAT205566.1 rs75094680 A N/A 1,505 ashkenazi jewish founder cases//2,553 ashkenazi jewish founder controls EFO_0000692 N/A Associate Schizophrenia rs75094680-A of NONHSAT205566.1 is significantly associated with the schizophrenia by using GWAS analysis in 1,505 ashkenazi jewish founder cases//2,553 ashkenazi jewish founder controls(p-value = 7E-6 ;OR = 3.5714285). 0.4 Genome-wide association study of schizophrenia in Ashkenazi Jews. NCRV0000001426 28443625 NONHSAT167505.1 rs17065323 T N/A 95,362 european ancestry women//62,085 european ancestry men//5,829 european ancestry individuals//10,500 african american/afro-caribbean ancestry women//2,706 african american/afro-caribbean ancestry men//1,030 indian asian ancestry women//7,648 indian asian ancestry men//1,793 filipino ancestry women//2,944 hispanic/latino ancestry women//1,764 hispanic/latino ancestry men; 21,496 european ancestry women//24,385 european ancestry men//118,364 european ancestry individuals//2,326 african american/afro-caribbean ancestry women//855 african american/afro-caribbean ancestry men EFO_0007788 adjusted for smoking behaviour Associate Waist-to-hip ratio adjusted for bmi (adjusted for smoking behaviour) rs17065323-T of NONHSAT167505.1 is significantly associated with the waist-to-hip ratio adjusted for bmi (adjusted for smoking behaviour) by using GWAS analysis in 95,362 european ancestry women//62,085 european ancestry men//5,829 european ancestry individuals//10,500 african american/afro-caribbean ancestry women//2,706 african american/afro-caribbean ancestry men//1,030 indian asian ancestry women//7,648 indian asian ancestry men//1,793 filipino ancestry women//2,944 hispanic/latino ancestry women//1,764 hispanic/latino ancestry men; 21,496 european ancestry women//24,385 european ancestry men//118,364 european ancestry individuals//2,326 african american/afro-caribbean ancestry women//855 african american/afro-caribbean ancestry men(p-value = 1E-8 ;OR = 0.139). 0.4 Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. NCRV0000001440 22190364 NONHSAT196970.1 rs170934 T N/A 5,545 european ancestry cases//12,153 european ancestry controls EFO_0003885 N/A Associate Multiple sclerosis rs170934-T of NONHSAT196970.1 is significantly associated with the multiple sclerosis by using GWAS analysis in 5,545 european ancestry cases//12,153 european ancestry controls(p-value = 2E-8 ;OR = 1.17). 0.4 Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. NCRV0000002609 25233373 NONHSAT034948.2 rs1347190 ? N/A 7,068 european ancestry cases//6,844 european ancestry controls; 1,554 european ancestry cases//892 cases//1,654 european ancestry controls//2,921 controls HP_0000540 N/A Associate Hyperopia rs1347190-? of NONHSAT034948.2 is significantly associated with the hyperopia by using GWAS analysis in 7,068 european ancestry cases//6,844 european ancestry controls; 1,554 european ancestry cases//892 cases//1,654 european ancestry controls//2,921 controls(p-value = 7E-6 ;OR = ?). 0.4 Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 loci. NCRV0000001210 26151821 NONHSAT216396.1 rs6983267 G N/A 18,299 european ancestry cases//19,656 european ancestry controls; 4,725 east asian ancestry cases//9,969 east asian ancestry controls EFO_0005842 N/A Associate Colorectal cancer rs6983267-G of NONHSAT216396.1 is significantly associated with the colorectal cancer by using GWAS analysis in 18,299 european ancestry cases//19,656 european ancestry controls; 4,725 east asian ancestry cases//9,969 east asian ancestry controls(p-value = 4E-14 ;OR = 1.1235955). 0.4 Genome-wide association study of colorectal cancer identifies six new susceptibility loci. NCRV0000002500 27863252 NONHSAT135373.2 rs2157770 G N/A 164,454 european ancestry individuals EFO_0004584 N/A Associate Mean platelet volume rs2157770-G of NONHSAT135373.2 is significantly associated with the mean platelet volume by using GWAS analysis in 164,454 european ancestry individuals(p-value = 2E-28 ;OR = 0.04436646). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001926 24945404 NONHSAT183032.1 rs6726821 T N/A 8,007 european ancestry children//289 surinamese ancestry children//300 turkish ancestry children//232 moroccan ancestry children//588 children EFO_0003923 N/A Associate Bone mineral density (paediatric//total body less head) rs6726821-T of NONHSAT183032.1 is significantly associated with the bone mineral density (paediatric//total body less head) by using GWAS analysis in 8,007 european ancestry children//289 surinamese ancestry children//300 turkish ancestry children//232 moroccan ancestry children//588 children(p-value = 4E-10 ;OR = 0.091). 0.4 Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment. NCRV0000002006 25961943 NONHSAT179793.1 rs429358 T N/A up to 62,166 european ancestry individuals EFO_0000319 N/A Associate Hdl cholesterol rs429358-T of NONHSAT179793.1 is significantly associated with the hdl cholesterol by using GWAS analysis in up to 62,166 european ancestry individuals(p-value = 1E-14 ;OR = 0.066). 0.4 The impact of low-frequency and rare variants on lipid levels. NCRV0000002934 25226531 NONHSAT162562.1 rs11106179 A N/A 6,851 european ancestry 15-18-month-old children//6,299 european ancestry 24-30-month-old children; 2,038 european ancestry 15-18-month-old children//4,520 european ancestry 24-30-month-old children EFO_0006316 N/A Associate Expressive vocabulary in infants rs11106179-A of NONHSAT162562.1 is significantly associated with the expressive vocabulary in infants by using GWAS analysis in 6,851 european ancestry 15-18-month-old children//6,299 european ancestry 24-30-month-old children; 2,038 european ancestry 15-18-month-old children//4,520 european ancestry 24-30-month-old children(p-value = 3E-6 ;OR = 0.087). 0.4 Common variation near ROBO2 is associated with expressive vocabulary in infancy. NCRV0000000068 23400010 NONHSAT160517.1 rs17133858 T N/A 425 european ancestry cases//342 african american cases EFO_0000537 Thiazide-induced Associate Thiazide-induced adverse metabolic effects in hypertensive patients rs17133858-T of NONHSAT160517.1 is significantly associated with the thiazide-induced adverse metabolic effects in hypertensive patients by using GWAS analysis in 425 european ancestry cases//342 african american cases(p-value = 6E-6 ;OR = 20.99). 0.4 Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans. NCRV0000003244 27182965 NONHSAT163387.1 rs9300169 ? N/A 9,009 european ancestry cases//8,491 european ancestry controls EFO_0004191 N/A Associate Male-pattern baldness rs9300169-? of NONHSAT163387.1 is significantly associated with the male-pattern baldness by using GWAS analysis in 9,009 european ancestry cases//8,491 european ancestry controls(p-value = 4E-12 ;OR = 1.1918951). 0.4 Detection and interpretation of shared genetic influences on 42 human traits. NCRV0000000919 21658281 NONHSAT184639.1 rs1559040 ? N/A 88 european ancestry cases//517 european ancestry controls EFO_0004278 N/A Associate Sudden cardiac arrest rs1559040-? of NONHSAT184639.1 is significantly associated with the sudden cardiac arrest by using GWAS analysis in 88 european ancestry cases//517 european ancestry controls(p-value = 4E-8 ;OR = 1.54). 0.4 GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease. NCRV0000002786 24324551 NONHSAT209402.1 rs9450906 ? N/A 580 brazilian ancestry individuals EFO_0005529 N/A Associate Pr interval in tripanosoma cruzi seropositivity rs9450906-? of NONHSAT209402.1 is significantly associated with the pr interval in tripanosoma cruzi seropositivity by using GWAS analysis in 580 brazilian ancestry individuals(p-value = 6E-6 ;OR = ?). 0.4 Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects. NCRV0000003862 20881960 NONHSAT108734.2 rs879882 ? N/A 133,653 european ancestry individuals; 50,074 european ancestry individuals EFO_0004339 N/A Associate Height rs879882-? of NONHSAT108734.2 is significantly associated with the height by using GWAS analysis in 133,653 european ancestry individuals; 50,074 european ancestry individuals(p-value = 2E-7 ;OR = ?). 0.4 Hundreds of variants clustered in genomic loci and biological pathways affect human height. NCRV0000001840 28199695 NONHSAT208963.1 rs3130646 G N/A 41,355 european ancestry men and 43,369 european ancestry women EFO_0008377 N/A Associate Itch intensity from mosquito bite adjusted by bite size rs3130646-G of NONHSAT208963.1 is significantly associated with the itch intensity from mosquito bite adjusted by bite size by using GWAS analysis in 41,355 european ancestry men and 43,369 european ancestry women(p-value = 3E-6 ;OR = 0.0231949). 0.4 GWAS of self-reported mosquito bite size, itch intensity and attractiveness to mosquitoes implicates immune-related predisposition loci. NCRV0000003388 17447842 NONHSAT202526.1 rs1373692 ? N/A 547 european ancestry cases//928 european ancestry controls; 1,266 european ancestry cases//559 european ancestry controls//up to 428 european ancestry trios EFO_0000384 N/A Associate Crohn's disease rs1373692-? of NONHSAT202526.1 is significantly associated with the crohn's disease by using GWAS analysis in 547 european ancestry cases//928 european ancestry controls; 1,266 european ancestry cases//559 european ancestry controls//up to 428 european ancestry trios(p-value = 2E-12 ;OR = 1.46). 0.4 Novel Crohn disease locus identified by genome-wide association maps to a gene desert on 5p13.1 and modulates expression of PTGER4. NCRV0000002509 28232668 NONHSAT150442.1 rs2064163 C N/A 2,033 han chinese ancestry cases//4,051 han chinese ancestry controls; 1,346 han chinese ancestry cases//4,542 han chinese ancestry controls EFO_0003959 N/A Associate Nonsyndromic cleft lip with cleft palate rs2064163-C of NONHSAT150442.1 is significantly associated with the nonsyndromic cleft lip with cleft palate by using GWAS analysis in 2,033 han chinese ancestry cases//4,051 han chinese ancestry controls; 1,346 han chinese ancestry cases//4,542 han chinese ancestry controls(p-value = 9E-19 ;OR = 1.2987013). 0.4 Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity. NCRV0000001580 28203683 NONHSAT221592.1 rs113048739 A N/A 393 african american cases//4,941 african american controls.; nr EFO_0004286 N/A Associate Venous thromboembolism adjusted for sickle cell variant rs77121243-t rs113048739-A of NONHSAT221592.1 is significantly associated with the venous thromboembolism adjusted for sickle cell variant rs77121243-t by using GWAS analysis in 393 african american cases//4,941 african american controls.; nr(p-value = 3E-6 ;OR = 3.532). 0.4 Identification of unique venous thromboembolism-susceptibility variants in African-Americans. NCRV0000003802 28107422 NONHSAT185210.1 rs1558643 ? N/A 91,953 european ancestry individuals (imputed to hapmap); EFO_0004623 N/A Associate Fibrinogen levels rs1558643-? of NONHSAT185210.1 is significantly associated with the fibrinogen levels by using GWAS analysis in 91,953 european ancestry individuals (imputed to hapmap); (p-value = 6E-10 ;OR = 0.0066). 0.4 Comparison of HapMap and 1000 Genomes Reference Panels in a Large-Scale Genome-Wide Association Study. NCRV0000001888 27863252 NONHSAT208858.1 rs6917586 A N/A 172,435 european ancestry individuals EFO_0004308 N/A Associate White blood cell count rs6917586-A of NONHSAT208858.1 is significantly associated with the white blood cell count by using GWAS analysis in 172,435 european ancestry individuals(p-value = 1E-12 ;OR = 0.02659973). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003099 28928442 NONHSAT174445.1 rs113428591 ? N/A 60,098 european ancestry cases//113,323 european ancestry controls EFO_0007924 N/A Associate Tonsillectomy rs113428591-? of NONHSAT174445.1 is significantly associated with the tonsillectomy by using GWAS analysis in 60,098 european ancestry cases//113,323 european ancestry controls(p-value = 2E-7 ;OR = 0.0614). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. NCRV0000001915 27863252 NONHSAT210397.1 rs5020946 T N/A 172,435 european ancestry individuals EFO_0004308 N/A Associate White blood cell count rs5020946-T of NONHSAT210397.1 is significantly associated with the white blood cell count by using GWAS analysis in 172,435 european ancestry individuals(p-value = 1E-94 ;OR = 0.07445833). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001044 24204295 NONHSAT210400.1 rs9270965 ? N/A up to 893 chinese ancestry cases with onset before the 2009 h1n1 influenza pandemic//up to 373 chinese ancestry cases with onset after the 2009 h1n1 influenza pandemic EFO_0000614 N/A Associate Narcolepsy (onset before 2009 h1n1 influenza pandemic) rs9270965-? of NONHSAT210400.1 is significantly associated with the narcolepsy (onset before 2009 h1n1 influenza pandemic) by using GWAS analysis in up to 893 chinese ancestry cases with onset before the 2009 h1n1 influenza pandemic//up to 373 chinese ancestry cases with onset after the 2009 h1n1 influenza pandemic(p-value = 5E-12 ;OR = 1.72). 0.4 Genome wide analysis of narcolepsy in China implicates novel immune loci and reveals changes in association prior to versus after the 2009 H1N1 influenza pandemic. NCRV0000003614 25214527 NONHSAT067889.2 rs2361797 T N/A 3,412 european ancestry individuals; 3,389 european ancestry individuals EFO_0004534 statin Associate Creatine kinase in statin users rs2361797-T of NONHSAT067889.2 is significantly associated with the creatine kinase in statin users by using GWAS analysis in 3,412 european ancestry individuals; 3,389 european ancestry individuals(p-value = 2E-10 ;OR = 0.08). 0.4 CKM and LILRB5 are associated with serum levels of creatine kinase. NCRV0000002901 28107422 NONHSAT129677.2 rs7464572 ? N/A 91,953 european ancestry individuals (imputed to hapmap); EFO_0004623 N/A Associate Fibrinogen levels rs7464572-? of NONHSAT129677.2 is significantly associated with the fibrinogen levels by using GWAS analysis in 91,953 european ancestry individuals (imputed to hapmap); (p-value = 2E-9 ;OR = 0.0066). 0.4 Comparison of HapMap and 1000 Genomes Reference Panels in a Large-Scale Genome-Wide Association Study. NCRV0000003591 27863252 NONHSAT061043.2 rs5498 G N/A 171,643 european ancestry individuals EFO_0004587 N/A Associate Lymphocyte counts rs5498-G of NONHSAT061043.2 is significantly associated with the lymphocyte counts by using GWAS analysis in 171,643 european ancestry individuals(p-value = 7E-30 ;OR = 0.04115269). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002196 28165464 NONHSAT184469.1 rs888096 A N/A 4,478 european ancestry cases and 13,213 european ancestry controls.; 1,722 european ancestry cases and 4,385 european ancestry controls. EFO_0000095 N/A Associate Chronic lymphocytic leukemia rs888096 -A of NONHSAT184469.1 is significantly associated with the chronic lymphocytic leukemia by using GWAS analysis in 4,478 european ancestry cases and 13,213 european ancestry controls.; 1,722 european ancestry cases and 4,385 european ancestry controls.(p-value = 5E-8 ;OR = 1.15). 0.4 Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia. NCRV0000002079 28540026 NONHSAT218016.1 rs56223946 ? N/A schizophrenia cases and controls (see ripke//2014)cases//up to 1,190 controls EFO_0000692 N/A Associate Schizophrenia rs56223946-? of NONHSAT218016.1 is significantly associated with the schizophrenia by using GWAS analysis in schizophrenia cases and controls (see ripke//2014)cases//up to 1,190 controls(p-value = 3E-9 ;OR = 1.098901). 0.4 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. NCRV0000002810 27798624 NONHSAT149294.1 rs2152735 A N/A 127,919 european ancestry individuals//2,478 asian ancestry individuals//1,734 black individuals//684 mixed ancestry individuals//1,436 individuals; 130,795 european ancestry individuals EFO_0003777 N/A Associate Resting heart rate rs2152735-A of NONHSAT149294.1 is significantly associated with the resting heart rate by using GWAS analysis in 127,919 european ancestry individuals//2,478 asian ancestry individuals//1,734 black individuals//684 mixed ancestry individuals//1,436 individuals; 130,795 european ancestry individuals(p-value = 7E-18 ;OR = 0.3061). 0.4 Identification of genomic loci associated with resting heart rate and shared genetic predictors with all-cause mortality. NCRV0000003731 28270201 NONHSAT143139.2 rs183208454 T N/A 19,223 british ancestry individuals from 6863 families. EFO_0000319 N/A Associate Hdl cholesterol rs183208454-T of NONHSAT143139.2 is significantly associated with the hdl cholesterol by using GWAS analysis in 19,223 british ancestry individuals from 6863 families.(p-value = 5E-9 ;OR = 1.3088803). 0.4 Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants. NCRV0000002145 24816252 NONHSAT179794.1 rs445925 A N/A up to 5,591 european ancestry individuals; up to 1,767 european ancestry individuals EFO_0005664 N/A Associate Blood metabolite ratios rs445925-A of NONHSAT179794.1 is significantly associated with the blood metabolite ratios by using GWAS analysis in up to 5,591 european ancestry individuals; up to 1,767 european ancestry individuals(p-value = 5E-23 ;OR = 0.089). 0.4 An atlas of genetic influences on human blood metabolites. NCRV0000003958 27632927 NONHSAT211049.1 rs17077968 ? N/A 803 finnish ancestry child cases//2,073 finnish ancestry controls EFO_0004992 N/A Associate Otitis media rs17077968-? of NONHSAT211049.1 is significantly associated with the otitis media by using GWAS analysis in 803 finnish ancestry child cases//2,073 finnish ancestry controls(p-value = 3E-6 ;OR = ?). 0.4 Genome-wide association analysis reveals variants on chromosome 19 that contribute to childhood risk of chronic otitis media with effusion. NCRV0000003430 28240269 NONHSAT221416.1 rs7857390 A N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008312 N/A Associate Blood protein levels rs7857390-A of NONHSAT221416.1 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 6E-11 ;OR = 0.2949). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. NCRV0000002037 28240269 NONHSAT176910.1 rs854462 ? N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008046 N/A Associate Blood protein levels rs854462-? of NONHSAT176910.1 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 3E-47 ;OR = ?). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. NCRV0000002171 25256182 NONHSAT119371.2 rs7798197 A N/A 2,617 european ancestry cases//2,548 european ancestry controls; 1,516 european ancestry cases//5,321 european ancestry controls EFO_0003870 N/A Associate Intracranial aneurysm rs7798197-A of NONHSAT119371.2 is significantly associated with the intracranial aneurysm by using GWAS analysis in 2,617 european ancestry cases//2,548 european ancestry controls; 1,516 european ancestry cases//5,321 european ancestry controls(p-value = 5E-6 ;OR = 1.18). 0.4 Genome-wide association study of intracranial aneurysm identifies a new association on chromosome 7. NCRV0000001903 25866641 NONHSAT208684.1 rs1573948 ? N/A 431 european ancestry cases EFO_0005842 N/A Associate Survival in microsatellite instability low/stable colorectal cancer rs1573948-? of NONHSAT208684.1 is significantly associated with the survival in microsatellite instability low/stable colorectal cancer by using GWAS analysis in 431 european ancestry cases(p-value = 5E-6 ;OR = 1.93). 0.4 A genome wide association study on Newfoundland colorectal cancer patients' survival outcomes. NCRV0000002972 22494929 NONHSAT143860.2 rs3813582 T N/A 3,736 european ancestry individuals; 3,727 european ancestry individuals EFO_1000627 N/A Associate Thyroid function rs3813582-T of NONHSAT143860.2 is significantly associated with the thyroid function by using GWAS analysis in 3,736 european ancestry individuals; 3,727 european ancestry individuals(p-value = 6E-10 ;OR = 0.068). 0.4 Meta-analysis of two genome-wide association studies identifies four genetic loci associated with thyroid function. NCRV0000002063 24493630 NONHSAT159345.1 rs537626 ? N/A 3,523 european ancestry young female cases//2,702 european ancestry young female controls; 3,470 european ancestry young female cases//5,475 european ancestry young female controls EFO_0000305 N/A Associate Breast cancer (early onset) rs537626-? of NONHSAT159345.1 is significantly associated with the breast cancer (early onset) by using GWAS analysis in 3,523 european ancestry young female cases//2,702 european ancestry young female controls; 3,470 european ancestry young female cases//5,475 european ancestry young female controls(p-value = 2E-15 ;OR = 1.29). 0.4 A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age. NCRV0000003241 20966902 NONHSAT029092.2 rs7302017 G N/A 1,779 filipino ancestry females EFO_0004342 N/A Associate Waist circumference rs7302017-G of NONHSAT029092.2 is significantly associated with the waist circumference by using GWAS analysis in 1,779 filipino ancestry females(p-value = 5E-6 ;OR = 1.71). 0.4 Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women. NCRV0000003346 27863252 NONHSAT155096.1 rs1912580 C N/A 172,378 european ancestry individuals EFO_0007991 N/A Associate Eosinophil percentage of white cells rs1912580-C of NONHSAT155096.1 is significantly associated with the eosinophil percentage of white cells by using GWAS analysis in 172,378 european ancestry individuals(p-value = 4E-17 ;OR = 0.04177164). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002984 28333195 NONHSAT001478.2 rs55938609 ? N/A 3,194 european ancestry cases//7,060 european ancestry controls. EFO_0001065 N/A Associate Endometriosis rs55938609-? of NONHSAT001478.2 is significantly associated with the endometriosis by using GWAS analysis in 3,194 european ancestry cases//7,060 european ancestry controls.(p-value = 6E-7 ;OR = 1.24). 0.4 Genome-wide genetic analyses highlight mitogen-activated protein kinase (MAPK) signaling in the pathogenesis of endometriosis. NCRV0000003052 27701424 NONHSAT101850.2 rs10471753 C N/A 6,523 european ancestry individuals//6,490 individuals; 1,572 european ancestry individuals//6,655 individuals EFO_0007873 N/A Associate Hip minimal joint space width rs10471753-C of NONHSAT101850.2 is significantly associated with the hip minimal joint space width by using GWAS analysis in 6,523 european ancestry individuals//6,490 individuals; 1,572 european ancestry individuals//6,655 individuals(p-value = 4E-9 ;OR = 0.062). 0.4 Novel Genetic Variants for Cartilage Thickness and Hip Osteoarthritis. NCRV0000000318 22911880 NONHSAT218719.1 rs218361 G N/A up to 2,567 european ancestry individuals; up to 767 european ancestry cases//up to 486 european ancestry controls EFO_0000677 N/A Associate Eating disorders rs218361-G of NONHSAT218719.1 is significantly associated with the eating disorders by using GWAS analysis in up to 2,567 european ancestry individuals; up to 767 european ancestry cases//up to 486 european ancestry controls(p-value = 7E-6 ;OR = 1.061). 0.4 Genome-wide association analysis of eating disorder-related symptoms, behaviors, and personality traits. NCRV0000001089 26053186 NONHSAT018827.2 rs10501157 ? N/A 362 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//438 european ancestry current smoker individuals//449 latino current smoker individuals//704 japanese ancestry current smoker individuals EFO_0001071 in smokers Associate 3-hydroxypropylmercapturic acid levels in smokers rs10501157-? of NONHSAT018827.2 is significantly associated with the 3-hydroxypropylmercapturic acid levels in smokers by using GWAS analysis in 362 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//438 european ancestry current smoker individuals//449 latino current smoker individuals//704 japanese ancestry current smoker individuals(p-value = 7E-9 ;OR = 0.8987). 0.4 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. NCRV0000000821 20031603 NONHSAT075819.2 rs12476289 A N/A 2,325 european ancestry individuals EFO_0004278 N/A Associate Qt interval rs12476289-A of NONHSAT075819.2 is significantly associated with the qt interval by using GWAS analysis in 2,325 european ancestry individuals(p-value = 2E-6 ;OR = 0.29). 0.4 A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project. NCRV0000002450 26053186 NONHSAT052571.2 rs756766 ? N/A 362 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//438 european ancestry current smoker individuals//449 latino current smoker individuals//704 japanese ancestry current smoker individuals EFO_0001071 in smokers Associate 3-hydroxypropylmercapturic acid levels in smokers rs756766-? of NONHSAT052571.2 is significantly associated with the 3-hydroxypropylmercapturic acid levels in smokers by using GWAS analysis in 362 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//438 european ancestry current smoker individuals//449 latino current smoker individuals//704 japanese ancestry current smoker individuals(p-value = 7E-6 ;OR = 0.5607). 0.4 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. NCRV0000002361 21829377 NONHSAT159177.1 rs174535 T N/A 8,866 european ancestry individuals EFO_0000319 N/A Associate Plasma omega-3 polyunsaturated fatty acid level (eicosapentaenoic acid) rs174535-T of NONHSAT159177.1 is significantly associated with the plasma omega-3 polyunsaturated fatty acid level (eicosapentaenoic acid) by using GWAS analysis in 8,866 european ancestry individuals(p-value = 6E-58 ;OR = 0.08). 0.4 Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium. NCRV0000003343 28240269 NONHSAT149861.1 rs9427116 T N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008187 N/A Associate Blood protein levels rs9427116-T of NONHSAT149861.1 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 1E-14 ;OR = 0.3392). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. NCRV0000000722 22566634 NONHSAT209490.1 rs240768 T N/A 9,617 european ancestry individuals EFO_0004827 N/A Associate Economic and political preferences (immigration/crime) rs240768-T of NONHSAT209490.1 is significantly associated with the economic and political preferences (immigration/crime) by using GWAS analysis in 9,617 european ancestry individuals(p-value = 2E-6 ;OR = 0.267). 0.4 The genetic architecture of economic and political preferences. NCRV0000003752 29059683 NONHSAT192444.1 rs4820477 C N/A 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls EFO_0000305 N/A Associate Breast cancer rs4820477-C of NONHSAT192444.1 is significantly associated with the breast cancer by using GWAS analysis in 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls(p-value = 9E-7 ;OR = 0.0307). 0.4 Association analysis identifies 65 new breast cancer risk loci. NCRV0000000202 27989323 NONHSAT151514.1 rs145155829 C N/A 8,293 finnish ancestry individuals EFO_0005140 N/A Associate Monocyte chemoattractant protein-1 levels rs145155829-C of NONHSAT151514.1 is significantly associated with the monocyte chemoattractant protein-1 levels by using GWAS analysis in 8,293 finnish ancestry individuals(p-value = 4E-6 ;OR = 0.2153). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. NCRV0000003306 27863252 NONHSAT008671.2 rs1434282 T N/A 172,433 european ancestry individuals EFO_0004526 N/A Associate Mean corpuscular volume rs1434282-T of NONHSAT008671.2 is significantly associated with the mean corpuscular volume by using GWAS analysis in 172,433 european ancestry individuals(p-value = 1E-39 ;OR = 0.05252996). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001302 27863252 NONHSAT008671.2 rs1434282 T N/A 172,332 european ancestry individuals EFO_0004527 N/A Associate Mean corpuscular hemoglobin rs1434282-T of NONHSAT008671.2 is significantly associated with the mean corpuscular hemoglobin by using GWAS analysis in 172,332 european ancestry individuals(p-value = 3E-22 ;OR = 0.03887805). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003278 29059683 NONHSAT097630.2 rs10016947 C N/A 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls EFO_0000305 N/A Associate Breast cancer rs10016947-C of NONHSAT097630.2 is significantly associated with the breast cancer by using GWAS analysis in 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls(p-value = 9E-6 ;OR = 0.0611). 0.4 Association analysis identifies 65 new breast cancer risk loci. NCRV0000003494 28714975 NONHSAT179793.1 rs7412 C N/A 18,467 european and unknown ancestry cases//45,264 european and unknown ancestry controls; 57,347 european and unknown ancestry cases//219,521 european and unknown ancestry controls EFO_0000378 N/A Associate Coronary artery disease (myocardial infartum//percutaneous transluminal coronary angioplasty//coronary artery bypass grafting//angina or chromic ischemic heart disease) rs7412-C of NONHSAT179793.1 is significantly associated with the coronary artery disease (myocardial infartum//percutaneous transluminal coronary angioplasty//coronary artery bypass grafting//angina or chromic ischemic heart disease) by using GWAS analysis in 18,467 european and unknown ancestry cases//45,264 european and unknown ancestry controls; 57,347 european and unknown ancestry cases//219,521 european and unknown ancestry controls(p-value = 2E-19 ;OR = 1.15). 0.4 Association analyses based on false discovery rate implicate new loci for coronary artery disease. NCRV0000002047 19079260 NONHSAT186578.1 rs7561317 G N/A 72,598 european ancestry individuals//1,160 african american individuals; up to 11,036 european ancestry individuals//32,615 individuals EFO_0001073 N/A Associate Body mass index rs7561317-G of NONHSAT186578.1 is significantly associated with the body mass index by using GWAS analysis in 72,598 european ancestry individuals//1,160 african american individuals; up to 11,036 european ancestry individuals//32,615 individuals(p-value = 4E-17 ;OR = 6.12). 0.4 Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity. NCRV0000001933 20400778 NONHSAT122787.2 rs17159640 T N/A 1,645 european ancestry cases//881 european ancestry controls//281 african ancestry cases//185 african ancestry controls EFO_0003144 N/A Associate Mortality in heart failure rs17159640-T of NONHSAT122787.2 is significantly associated with the mortality in heart failure by using GWAS analysis in 1,645 european ancestry cases//881 european ancestry controls//281 african ancestry cases//185 african ancestry controls(p-value = 9E-6 ;OR = 1.59). 0.4 Genomic variation associated with mortality among adults of European and African ancestry with heart failure: the cohorts for heart and aging research in genomic epidemiology consortium. NCRV0000000963 26198764 NONHSAT177083.1 rs4968361 A N/A 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls EFO_0000692 N/A Associate Schizophrenia rs4968361-A of NONHSAT177083.1 is significantly associated with the schizophrenia by using GWAS analysis in 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls(p-value = 9E-6 ;OR = 1.08). 0.4 Genome-wide association study of schizophrenia in Ashkenazi Jews. NCRV0000003250 28928442 NONHSAT206987.1 rs28551159 ? N/A 35,000 european ancestry cases//33,478 european ancestry controls EFO_0008413 N/A Associate Urinary tract infection frequency rs28551159-? of NONHSAT206987.1 is significantly associated with the urinary tract infection frequency by using GWAS analysis in 35,000 european ancestry cases//33,478 european ancestry controls(p-value = 1E-7 ;OR = 0.0622). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. NCRV0000002329 26053186 NONHSAT200140.1 rs72909131 ? N/A 361 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//440 european ancestry current smoker individuals//452 latino current smoker individuals//702 japanese ancestry current smoker individuals EFO_0001071 in smokers Associate 3-hydroxy-1-methylpropylmercapturic acid levels in smokers rs72909131-? of NONHSAT200140.1 is significantly associated with the 3-hydroxy-1-methylpropylmercapturic acid levels in smokers by using GWAS analysis in 361 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//440 european ancestry current smoker individuals//452 latino current smoker individuals//702 japanese ancestry current smoker individuals(p-value = 7E-7 ;OR = 0.5037). 0.4 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. NCRV0000002969 19107115 NONHSAT164343.1 rs4238010 G N/A 1,359 european ancestry cases//1,782 european ancestry controls EFO_0003761 N/A Associate Major depressive disorder rs4238010-G of NONHSAT164343.1 is significantly associated with the major depressive disorder by using GWAS analysis in 1,359 european ancestry cases//1,782 european ancestry controls(p-value = 6E-6 ;OR = 1.72). 0.4 Genome-wide association study of recurrent major depressive disorder in two European case-control cohorts. NCRV0000000244 27863252 NONHSAT204881.1 rs61745454 G N/A 170,721 european ancestry individuals EFO_0005091 N/A Associate Monocyte count rs61745454-G of NONHSAT204881.1 is significantly associated with the monocyte count by using GWAS analysis in 170,721 european ancestry individuals(p-value = 3E-12 ;OR = 0.06216414). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003517 29083406 NONHSAT016133.2 rs10883723 C N/A 180,129 european ancestry cases//180,709 european ancestry controls EFO_0003785 N/A Associate Allergic disease (asthma//hay fever or eczema) rs10883723-C of NONHSAT016133.2 is significantly associated with the allergic disease (asthma//hay fever or eczema) by using GWAS analysis in 180,129 european ancestry cases//180,709 european ancestry controls(p-value = 2E-8 ;OR = 1.03). 0.4 Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology. NCRV0000002323 19668339 NONHSAT036860.2 rs11626056 ? N/A 162 european ancestry cases//192 european ancestry controls//7 african american cases//14 african american controls//1 asian ancestry cases//3 asian ancestry controls//2 cases EFO_0005039 N/A Associate Hippocampal atrophy rs11626056-? of NONHSAT036860.2 is significantly associated with the hippocampal atrophy by using GWAS analysis in 162 european ancestry cases//192 european ancestry controls//7 african american cases//14 african american controls//1 asian ancestry cases//3 asian ancestry controls//2 cases(p-value = 1E-6 ;OR = ?). 0.4 Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease. NCRV0000000725 21051598 NONHSAT207105.1 rs2395029 G N/A 516 european cases//1,196 european controls//341 african american cases//892 african american controls//117 hispanic cases//560 hispanic controls EFO_0000180 N/A Associate Hiv-1 control rs2395029-G of NONHSAT207105.1 is significantly associated with the hiv-1 control by using GWAS analysis in 516 european cases//1,196 european controls//341 african american cases//892 african american controls//117 hispanic cases//560 hispanic controls(p-value = 1E-25 ;OR = 5.3). 0.4 The major genetic determinants of HIV-1 control affect HLA class I peptide presentation. NCRV0000001176 26741287 NONHSAT197755.1 rs1157705 ? N/A 528 sereer ancestry individuals from 130 families EFO_0007810 N/A Associate Igg1 response to plasmodium falciparum antigen (glurp) rs1157705-? of NONHSAT197755.1 is significantly associated with the igg1 response to plasmodium falciparum antigen (glurp) by using GWAS analysis in 528 sereer ancestry individuals from 130 families(p-value = 9E-6 ;OR = 4.433). 0.4 Genome-wide association study of antibody responses to Plasmodium falciparum candidate vaccine antigens. NCRV0000003809 27863252 NONHSAT078136.2 rs156356 C N/A 164,454 european ancestry individuals EFO_0004584 N/A Associate Mean platelet volume rs156356-C of NONHSAT078136.2 is significantly associated with the mean platelet volume by using GWAS analysis in 164,454 european ancestry individuals(p-value = 8E-66 ;OR = 0.06528941). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003783 23563607 NONHSAT033771.2 rs9596219 T N/A 8,097 european ancestry tall individuals//8,099 european ancestry short individuals; 4,872 european ancestry tall individuals//4,831 european ancestry short individuals EFO_0004339 N/A Associate Height rs9596219-T of NONHSAT033771.2 is significantly associated with the height by using GWAS analysis in 8,097 european ancestry tall individuals//8,099 european ancestry short individuals; 4,872 european ancestry tall individuals//4,831 european ancestry short individuals(p-value = 1E-9 ;OR = 1.16). 0.4 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. NCRV0000000860 20729852 NONHSAT152363.1 rs4072037 A N/A 1,625 chinese ancestry gastric cancer cases//1,898 chinese ancestry escc cases//2,100 chinese ancestry controls EFO_0000178 N/A Associate Esophageal cancer and gastric cancer rs4072037-A of NONHSAT152363.1 is significantly associated with the esophageal cancer and gastric cancer by using GWAS analysis in 1,625 chinese ancestry gastric cancer cases//1,898 chinese ancestry escc cases//2,100 chinese ancestry controls(p-value = 4E-7 ;OR = 1.33). 0.4 A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and esophageal squamous cell carcinoma. NCRV0000002108 21886157 NONHSAT003984.2 rs211718 T N/A 2,820 european ancestry individuals EFO_0004725 N/A Associate Metabolic traits rs211718-T of NONHSAT003984.2 is significantly associated with the metabolic traits by using GWAS analysis in 2,820 european ancestry individuals(p-value = 2E-71 ;OR = 0.16). 0.4 Human metabolic individuality in biomedical and pharmaceutical research. NCRV0000002637 25802187 NONHSAT188818.1 rs1883832 T N/A 2,514 chinese ancestry cases//1,130 chinese ancestry controls; 6,600 chinese ancestry cases//8,127 chinese ancestry controls EFO_0004239 N/A Associate Chronic hepatitis b infection rs1883832-T of NONHSAT188818.1 is significantly associated with the chronic hepatitis b infection by using GWAS analysis in 2,514 chinese ancestry cases//1,130 chinese ancestry controls; 6,600 chinese ancestry cases//8,127 chinese ancestry controls(p-value = 3E-15 ;OR = 1.19). 0.4 Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B. NCRV0000000548 27863252 NONHSAT203743.1 rs117893233 T N/A 171,529 european ancestry individuals EFO_0005192 N/A Associate Red cell distribution width rs117893233-T of NONHSAT203743.1 is significantly associated with the red cell distribution width by using GWAS analysis in 171,529 european ancestry individuals(p-value = 5E-9 ;OR = 0.1679467). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001076 21685187 NONHSAT182644.1 rs10928927 T N/A 3,397 european ancestry cases EFO_0005670 N/A Associate Age at smoking initiation in chronic obstructive pulmonary disease rs10928927-T of NONHSAT182644.1 is significantly associated with the age at smoking initiation in chronic obstructive pulmonary disease by using GWAS analysis in 3,397 european ancestry cases(p-value = 3E-7 ;OR = 0.057). 0.4 Genome-wide association study of smoking behaviours in patients with COPD. NCRV0000001922 28165464 NONHSAT179825.1 rs874460 C N/A 4,478 european ancestry cases and 13,213 european ancestry controls.; 1,722 european ancestry cases and 4,385 european ancestry controls. EFO_0000095 N/A Associate Chronic lymphocytic leukemia rs874460-C of NONHSAT179825.1 is significantly associated with the chronic lymphocytic leukemia by using GWAS analysis in 4,478 european ancestry cases and 13,213 european ancestry controls.; 1,722 european ancestry cases and 4,385 european ancestry controls.(p-value = 3E-8 ;OR = 1.24). 0.4 Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia. NCRV0000000894 27863252 NONHSAT081839.2 rs35542019 T N/A 172,952 european ancestry individuals EFO_0004305 N/A Associate Red blood cell count rs35542019-T of NONHSAT081839.2 is significantly associated with the red blood cell count by using GWAS analysis in 172,952 european ancestry individuals(p-value = 2E-11 ;OR = 0.02411232). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001866 27958378 NONHSAT207607.1 rs10484885 ? N/A 2,095 european ancestry exposed individuals//42,907 european ancestry unexposed individuals//1,167 african american exposed individuals//10,564 african american unexposed individuals//794 hispanic/latino american exposed individuals//14,330 hispanic/latino american unexposed individuals EFO_0003777 sulfonylurea treatment interaction Associate Qrs interval (sulfonylurea treatment interaction) rs10484885-? of NONHSAT207607.1 is significantly associated with the qrs interval (sulfonylurea treatment interaction) by using GWAS analysis in 2,095 european ancestry exposed individuals//42,907 european ancestry unexposed individuals//1,167 african american exposed individuals//10,564 african american unexposed individuals//794 hispanic/latino american exposed individuals//14,330 hispanic/latino american unexposed individuals(p-value = 9E-7 ;OR = 3.5). 0.4 Large-scale pharmacogenomic study of sulfonylureas and the QT, JT and QRS intervals: CHARGE Pharmacogenomics Working Group. NCRV0000001541 29059683 NONHSAT207049.1 rs1233480 T N/A 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls EFO_0000305 N/A Associate Breast cancer rs1233480-T of NONHSAT207049.1 is significantly associated with the breast cancer by using GWAS analysis in 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls(p-value = 5E-8 ;OR = 0.0586). 0.4 Association analysis identifies 65 new breast cancer risk loci. NCRV0000002506 20861866 NONHSAT060783.2 rs2230199 C N/A 684 european ancestry cases//188 european ancestry controls; 1,896 european ancestry cases//1,866 european ancestry controls EFO_0001365 N/A Associate Age-related macular degeneration rs2230199-C of NONHSAT060783.2 is significantly associated with the age-related macular degeneration by using GWAS analysis in 684 european ancestry cases//188 european ancestry controls; 1,896 european ancestry cases//1,866 european ancestry controls(p-value = 1E-8 ;OR = 1.44). 0.4 Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration. NCRV0000001724 27182965 NONHSAT108398.2 rs4713118 ? N/A 9,619 european ancestry cases//324,522 european ancestry controls EFO_0002508 N/A Associate Parkinson's disease rs4713118-? of NONHSAT108398.2 is significantly associated with the parkinson's disease by using GWAS analysis in 9,619 european ancestry cases//324,522 european ancestry controls(p-value = 2E-10 ;OR = 1.121). 0.4 Detection and interpretation of shared genetic influences on 42 human traits. NCRV0000002157 22504420 NONHSAT195626.1 rs430727 T N/A up to 32,961 european and east asian ancestry individuals; up to 50,933 european and east asian ancestry individuals EFO_0003923 N/A Associate Bone mineral density rs430727-T of NONHSAT195626.1 is significantly associated with the bone mineral density by using GWAS analysis in up to 32,961 european and east asian ancestry individuals; up to 50,933 european and east asian ancestry individuals(p-value = 4E-25 ;OR = 0.06). 0.4 Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. NCRV0000000644 26112879 NONHSAT102380.2 rs2451932 G N/A 541 european ancestry individuals EFO_0000319 N/A Associate Ldl peak particle diameter (total fat intake interaction) rs2451932-G of NONHSAT102380.2 is significantly associated with the ldl peak particle diameter (total fat intake interaction) by using GWAS analysis in 541 european ancestry individuals(p-value = 2E-6 ;OR = 0.034925025). 0.4 Interaction between Common Genetic Variants and Total Fat Intake on Low-Density Lipoprotein Peak Particle Diameter: A Genome-Wide Association Study. NCRV0000002522 23266556 NONHSAT183327.1 rs11903757 C N/A 12,696 european ancestry colorectal tumor cases//15,113 european ancestry controls; 958 european ancestry colorectal tumor cases//909 european ancestry controls//up to 2,098 east asian ancestry colorectal tumor cases//up to 5,749 east asian ancestry controls EFO_0005842 N/A Associate Colorectal cancer rs11903757-C of NONHSAT183327.1 is significantly associated with the colorectal cancer by using GWAS analysis in 12,696 european ancestry colorectal tumor cases//15,113 european ancestry controls; 958 european ancestry colorectal tumor cases//909 european ancestry controls//up to 2,098 east asian ancestry colorectal tumor cases//up to 5,749 east asian ancestry controls(p-value = 4E-8 ;OR = 1.16). 0.4 Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis. NCRV0000000012 27863252 NONHSAT162151.1 rs733592 T N/A 164,339 european ancestry individuals EFO_0007985 N/A Associate Plateletcrit rs733592-T of NONHSAT162151.1 is significantly associated with the plateletcrit by using GWAS analysis in 164,339 european ancestry individuals(p-value = 5E-9 ;OR = 0.02221088). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001292 22890011 NONHSAT211650.1 rs10952132 T N/A 817 european ancestry individuals GO_1901557 N/A Associate Response to fenofibrate rs10952132-T of NONHSAT211650.1 is significantly associated with the response to fenofibrate by using GWAS analysis in 817 european ancestry individuals(p-value = 1E-6 ;OR = 0.31). 0.4 Genome-wide association study indicates variants associated with insulin signaling and inflammation mediate lipoprotein responses to fenofibrate. NCRV0000000840 22491018 NONHSAT220682.1 rs1329568 ? N/A 1,157 european and other ancestry rheumatoid arthritis cases; 526 european and other ancestry rheumatoid arthritis cases EFO_0000685 tocilizumab Associate Response to tocilizumab in rheumatoid arthritis rs1329568-? of NONHSAT220682.1 is significantly associated with the response to tocilizumab in rheumatoid arthritis by using GWAS analysis in 1,157 european and other ancestry rheumatoid arthritis cases; 526 european and other ancestry rheumatoid arthritis cases(p-value = 8E-7 ;OR = 19.64). 0.4 Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis. NCRV0000003117 28199695 NONHSAT168795.1 rs11848870 T N/A 41,355 european ancestry men and 43,369 european ancestry women EFO_0008377 N/A Associate Itch intensity from mosquito bite adjusted by bite size rs11848870-T of NONHSAT168795.1 is significantly associated with the itch intensity from mosquito bite adjusted by bite size by using GWAS analysis in 41,355 european ancestry men and 43,369 european ancestry women(p-value = 6E-6 ;OR = 0.127887). 0.4 GWAS of self-reported mosquito bite size, itch intensity and attractiveness to mosquitoes implicates immune-related predisposition loci. NCRV0000000237 28453575 NONHSAT160034.1 rs334 T N/A 12,502 hispanic/latino individuals; 4,772 hispanic/latino individuals EFO_0004526 N/A Associate Mean corpuscular volume rs334-T of NONHSAT160034.1 is significantly associated with the mean corpuscular volume by using GWAS analysis in 12,502 hispanic/latino individuals; 4,772 hispanic/latino individuals(p-value = 1E-22 ;OR = 3.46). 0.4 Genome-wide association study of red blood cell traits in Hispanics/Latinos: The Hispanic Community Health Study/Study of Latinos. NCRV0000003766 28067908 NONHSAT191834.1 rs2836878 ? N/A 12,194 european and unknown ancestry cases//28,072 european and unknown ancestry controls EFO_0000384 N/A Associate Crohn's disease rs2836878-? of NONHSAT191834.1 is significantly associated with the crohn's disease by using GWAS analysis in 12,194 european and unknown ancestry cases//28,072 european and unknown ancestry controls(p-value = 4E-7 ;OR = ?). 0.4 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. NCRV0000002257 26053186 NONHSAT195356.1 rs17041333 ? N/A 361 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//440 european ancestry current smoker individuals//452 latino current smoker individuals//702 japanese ancestry current smoker individuals EFO_0001071 in smokers Associate 3-hydroxy-1-methylpropylmercapturic acid levels in smokers rs17041333-? of NONHSAT195356.1 is significantly associated with the 3-hydroxy-1-methylpropylmercapturic acid levels in smokers by using GWAS analysis in 361 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//440 european ancestry current smoker individuals//452 latino current smoker individuals//702 japanese ancestry current smoker individuals(p-value = 3E-8 ;OR = 0.8959). 0.4 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. NCRV0000000924 24529757 NONHSAT219120.1 rs16938145 ? N/A 250 han chinese ancestry cases//250 han chinese ancestry controls EFO_0001357 N/A Associate Amyotrophic lateral sclerosis (sporadic) rs16938145-? of NONHSAT219120.1 is significantly associated with the amyotrophic lateral sclerosis (sporadic) by using GWAS analysis in 250 han chinese ancestry cases//250 han chinese ancestry controls(p-value = 1E-6 ;OR = ?). 0.4 Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations. NCRV0000003578 25436638 NONHSAT034433.2 rs1409005 T N/A 4,501 european ancestry individuals//351 african american individuals EFO_1000627 N/A Associate Serum thyroid-stimulating hormone levels rs1409005-T of NONHSAT034433.2 is significantly associated with the serum thyroid-stimulating hormone levels by using GWAS analysis in 4,501 european ancestry individuals//351 african american individuals(p-value = 5E-7 ;OR = 0.25). 0.4 Genetic variants associated with serum thyroid stimulating hormone (TSH) levels in European Americans and African Americans from the eMERGE Network. NCRV0000003302 24816252 NONHSAT209556.1 rs6901004 C N/A 7,824 european ancestry individuals EFO_0005664 N/A Associate Blood metabolite levels rs6901004-C of NONHSAT209556.1 is significantly associated with the blood metabolite levels by using GWAS analysis in 7,824 european ancestry individuals(p-value = 1E-11 ;OR = 0.006). 0.4 An atlas of genetic influences on human blood metabolites. NCRV0000002825 26584805 NONHSAT210354.1 rs4476815 G N/A 717 singaporean chinese ancestry myocardial infarction cases//644 singaporean chinese ancestry controls EFO_0000319 N/A Associate Plasma omega-6 polyunsaturated fatty acid levels (linoleic acid) rs4476815-G of NONHSAT210354.1 is significantly associated with the plasma omega-6 polyunsaturated fatty acid levels (linoleic acid) by using GWAS analysis in 717 singaporean chinese ancestry myocardial infarction cases//644 singaporean chinese ancestry controls(p-value = 4E-7 ;OR = 0.0537). 0.4 A genome-wide association study of n-3 and n-6 plasma fatty acids in a Singaporean Chinese population. NCRV0000002831 28928442 NONHSAT199005.1 rs183838363 ? N/A 4,426 european ancestry cases//84,290 european ancestry controls EFO_0008407 N/A Associate Tuberculosis rs183838363-? of NONHSAT199005.1 is significantly associated with the tuberculosis by using GWAS analysis in 4,426 european ancestry cases//84,290 european ancestry controls(p-value = 3E-6 ;OR = 0.5231). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. NCRV0000000235 25918132 NONHSAT156452.1 rs55816310 A N/A 74 european ancestry cases//824 european ancestry controls EFO_0000270 N/A Associate Diisocyanate-induced asthma rs55816310-A of NONHSAT156452.1 is significantly associated with the diisocyanate-induced asthma by using GWAS analysis in 74 european ancestry cases//824 european ancestry controls(p-value = 1E-6 ;OR = 33.91). 0.4 Genome-Wide Association Study Identifies Novel Loci Associated With Diisocyanate-Induced Occupational Asthma. NCRV0000002744 26034056 NONHSAT217969.1 rs1512268 A N/A 6,406 european ancestry cases//601 african american cases//288 east asian ancestry cases//488 latino cases30,866 european ancestry controls//1,650 african american controls//2,938 east asian ancestry controls//3,141 latino controls; 4,599 european ancestry cases//2,265 african american cases//2,940 european ancestry controls//2,414 african american controls EFO_0001663 N/A Associate Prostate cancer rs1512268-A of NONHSAT217969.1 is significantly associated with the prostate cancer by using GWAS analysis in 6,406 european ancestry cases//601 african american cases//288 east asian ancestry cases//488 latino cases30,866 european ancestry controls//1,650 african american controls//2,938 east asian ancestry controls//3,141 latino controls; 4,599 european ancestry cases//2,265 african american cases//2,940 european ancestry controls//2,414 african american controls(p-value = 2E-12 ;OR = 1.17). 0.4 A large multiethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences. NCRV0000000387 26634245 NONHSAT219494.1 rs12352894 C N/A 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases EFO_0003892 N/A Associate Post bronchodilator fev1 in copd rs12352894-C of NONHSAT219494.1 is significantly associated with the post bronchodilator fev1 in copd by using GWAS analysis in 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases(p-value = 3E-6 ;OR = 0.284). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000002706 21116278 NONHSAT161447.1 rs2852894 ? N/A 434 european ancestry mild cognitive impairment cases//245 european ancestry alzheimer's disease cases//284 european ancestry controls EFO_0000249 N/A Associate Whole-brain volume (alzheimer's disease interaction) rs2852894-? of NONHSAT161447.1 is significantly associated with the whole-brain volume (alzheimer's disease interaction) by using GWAS analysis in 434 european ancestry mild cognitive impairment cases//245 european ancestry alzheimer's disease cases//284 european ancestry controls(p-value = 1E-6 ;OR = 0.016). 0.4 Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease. NCRV0000003169 24509480 NONHSAT079869.2 rs4812829 A N/A 12,171 european ancestry cases//56,862 european ancestry controls//6,952 east asian ancestry cases//11,865 east asian ancestry controls//5,561 south asian ancestry cases//14,458 south asian ancestry controls//1,804 mexican ancestry cases//779 mexican ancestry controls; 21,491 european ancestry cases//55,647 european ancestry controls EFO_0001360 N/A Associate Type 2 diabetes rs4812829-A of NONHSAT079869.2 is significantly associated with the type 2 diabetes by using GWAS analysis in 12,171 european ancestry cases//56,862 european ancestry controls//6,952 east asian ancestry cases//11,865 east asian ancestry controls//5,561 south asian ancestry cases//14,458 south asian ancestry controls//1,804 mexican ancestry cases//779 mexican ancestry controls; 21,491 european ancestry cases//55,647 european ancestry controls(p-value = 5E-8 ;OR = 1.07). 0.4 Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. NCRV0000000450 23251661 NONHSAT186310.1 rs13403276 G N/A 815 hispanic children from 263 families EFO_0003939 N/A Associate Obesity-related traits rs13403276-G of NONHSAT186310.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 3E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. NCRV0000000974 21348951 NONHSAT170567.1 rs17636733 ? N/A 851 old order amish individuals EFO_0002503 N/A Associate Cardiac hypertrophy rs17636733-? of NONHSAT170567.1 is significantly associated with the cardiac hypertrophy by using GWAS analysis in 851 old order amish individuals(p-value = 2E-7 ;OR = ?). 0.4 Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality. NCRV0000001756 21102463 NONHSAT202943.1 rs2549794 C N/A 6,333 european ancestry cases//15,056 european ancestry controls; 15,694 european ancestry cases//14,026 european ancestry controls//414 european ancestry trios EFO_0000384 N/A Associate Crohn's disease rs2549794-C of NONHSAT202943.1 is significantly associated with the crohn's disease by using GWAS analysis in 6,333 european ancestry cases//15,056 european ancestry controls; 15,694 european ancestry cases//14,026 european ancestry controls//414 european ancestry trios(p-value = 1E-10 ;OR = 1.05). 0.4 Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. NCRV0000000221 28928442 NONHSAT108741.2 rs9263868 ? N/A 16,711 european ancestry cases//118,152 european ancestry controls EFO_0008401 N/A Associate Shingles rs9263868-? of NONHSAT108741.2 is significantly associated with the shingles by using GWAS analysis in 16,711 european ancestry cases//118,152 european ancestry controls(p-value = 4E-21 ;OR = 0.1525). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. NCRV0000000539 27989323 NONHSAT108565.2 rs148228730 AAT N/A 8,243 finnish ancestry individuals EFO_0005140 N/A Associate Macrophage inflammatory protein 1b levels rs148228730-AAT of NONHSAT108565.2 is significantly associated with the macrophage inflammatory protein 1b levels by using GWAS analysis in 8,243 finnish ancestry individuals(p-value = 9E-6 ;OR = 0.074). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. NCRV0000000714 26584805 NONHSAT040928.2 rs7403037 T N/A 717 singaporean chinese ancestry myocardial infarction cases//644 singaporean chinese ancestry controls EFO_0000319 N/A Associate Plasma omega-3 polyunsaturated fatty acid levels (docosahexaenoic acid) rs7403037-T of NONHSAT040928.2 is significantly associated with the plasma omega-3 polyunsaturated fatty acid levels (docosahexaenoic acid) by using GWAS analysis in 717 singaporean chinese ancestry myocardial infarction cases//644 singaporean chinese ancestry controls(p-value = 4E-6 ;OR = 0.12). 0.4 A genome-wide association study of n-3 and n-6 plasma fatty acids in a Singaporean Chinese population. NCRV0000003521 28991256 NONHSAT152805.1 rs7523273 A N/A 7,699 chinese ancestry cases//35,476 european ancestry cases//18,327 chinese ancestry controls//46,839 european ancestry controls; 4,384 chinese ancestry cases//5,770 chinese ancestry controls EFO_0000692 N/A Associate Schizophrenia rs7523273-A of NONHSAT152805.1 is significantly associated with the schizophrenia by using GWAS analysis in 7,699 chinese ancestry cases//35,476 european ancestry cases//18,327 chinese ancestry controls//46,839 european ancestry controls; 4,384 chinese ancestry cases//5,770 chinese ancestry controls(p-value = 6E-7 ;OR = 1.055). 0.4 Genome-wide association analysis identifies 30 new susceptibility loci for schizophrenia. NCRV0000002115 26634245 NONHSAT176423.1 rs140385970 T N/A 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio in copd rs140385970-T of NONHSAT176423.1 is significantly associated with the post bronchodilator fev1/fvc ratio in copd by using GWAS analysis in 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases(p-value = 9E-7 ;OR = 0.306). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000000355 26007630 NONHSAT176810.1 rs57968458 A N/A 2,194 european ancestry multiple myeloma cases//251 european ancestry monoclonal gammopathy cases//294,390 european ancestry controls; 586 european ancestry multiple myeloma cases//2,111 european ancestry controls EFO_0000203 N/A Associate Multiple myeloma and monoclonal gammopathy rs57968458-A of NONHSAT176810.1 is significantly associated with the multiple myeloma and monoclonal gammopathy by using GWAS analysis in 2,194 european ancestry multiple myeloma cases//251 european ancestry monoclonal gammopathy cases//294,390 european ancestry controls; 586 european ancestry multiple myeloma cases//2,111 european ancestry controls(p-value = 3E-10 ;OR = 0.33). 0.4 Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma. NCRV0000000011 25866641 NONHSAT208684.1 rs1573948 ? N/A 171 european ancestry cases EFO_1000657 N/A Associate Survival in rectal cancer rs1573948-? of NONHSAT208684.1 is significantly associated with the survival in rectal cancer by using GWAS analysis in 171 european ancestry cases(p-value = 4E-6 ;OR = 2.71). 0.4 A genome wide association study on Newfoundland colorectal cancer patients' survival outcomes. NCRV0000003208 28078323 NONHSAT203460.1 rs12654437 ? N/A 3,964 african american ancestry individuals. HP_0100543 N/A Associate Cognitive decline (age-related) rs12654437-? of NONHSAT203460.1 is significantly associated with the cognitive decline (age-related) by using GWAS analysis in 3,964 african american ancestry individuals.(p-value = 4E-6 ;OR = 0.004). 0.4 Genetic architecture of age-related cognitive decline in African Americans. NCRV0000002751 22885922 NONHSAT017523.2 rs231361 A N/A 6,377 european ancestry male cases//5,794 european ancestry female cases//22,243 european ancestry male controls//34,619 european ancestry female controls; 12,938 european ancestry male cases//8,553 european ancestry female cases//904 pakistani ancestry male cases//274 pakistani ancestry female cases//30,273 european ancestry male controls//25,374 european ancestry female controls//2,088 pakistani ancestry male controls//384 pakistani ancestry female controls EFO_0001360 N/A Associate Type 2 diabetes rs231361-A of NONHSAT017523.2 is significantly associated with the type 2 diabetes by using GWAS analysis in 6,377 european ancestry male cases//5,794 european ancestry female cases//22,243 european ancestry male controls//34,619 european ancestry female controls; 12,938 european ancestry male cases//8,553 european ancestry female cases//904 pakistani ancestry male cases//274 pakistani ancestry female cases//30,273 european ancestry male controls//25,374 european ancestry female controls//2,088 pakistani ancestry male controls//384 pakistani ancestry female controls(p-value = 1E-9 ;OR = 1.09). 0.4 Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. NCRV0000001010 28346442 NONHSAT075637.2 rs711830 A N/A 2,566 european ancestry cases//40,941 european ancestry controls EFO_0006462 N/A Associate Mucinous ovarian carcinoma rs711830-A of NONHSAT075637.2 is significantly associated with the mucinous ovarian carcinoma by using GWAS analysis in 2,566 european ancestry cases//40,941 european ancestry controls(p-value = 1E-14 ;OR = 1.2736082). 0.4 Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer. NCRV0000003193 20139978 NONHSAT203752.1 rs4580814 T N/A 14,377 japanese ancestry individuals EFO_0004527 N/A Associate Mean corpuscular hemoglobin concentration rs4580814-T of NONHSAT203752.1 is significantly associated with the mean corpuscular hemoglobin concentration by using GWAS analysis in 14,377 japanese ancestry individuals(p-value = 5E-10 ;OR = 0.083). 0.4 Genome-wide association study of hematological and biochemical traits in a Japanese population. NCRV0000002678 28334792 NONHSAT067101.2 rs602662 A N/A 1,001 indo-european ancestry adults; 1,713 indo-european ancestry adults//690 indo-european ancestry children//481 dravidian ancestry adults//534 dravidian ancestry children EFO_0004620 N/A Associate Vitamin b12 levels rs602662-A of NONHSAT067101.2 is significantly associated with the vitamin b12 levels by using GWAS analysis in 1,001 indo-european ancestry adults; 1,713 indo-european ancestry adults//690 indo-european ancestry children//481 dravidian ancestry adults//534 dravidian ancestry children(p-value = 6E-13 ;OR = 0.18). 0.4 GWAS identifies population-specific new regulatory variants in FUT6 associated with plasma B12 concentrations in Indians. NCRV0000003754 29071344 NONHSAT156769.1 rs2886497 G N/A 3,041 african american individuals//1,618 european ancestry individuals; 1,612 african american individuals//1,551 european ancestry individuals EFO_0003829 N/A Associate Major depression and alcohol dependence rs2886497-G of NONHSAT156769.1 is significantly associated with the major depression and alcohol dependence by using GWAS analysis in 3,041 african american individuals//1,618 european ancestry individuals; 1,612 african american individuals//1,551 european ancestry individuals(p-value = 6E-6 ;OR = 0.44). 0.4 Genetic Risk Variants Associated With Comorbid Alcohol Dependence and Major Depression. NCRV0000002624 26708285 NONHSAT101414.2 rs16880442 G N/A 2,165 saudi arab ancestry cases//2,266 saudi arab ancestry controls; 503 saudi arab ancestry cases//734 saudi arab ancestry controls EFO_0000378 N/A Associate Coronary artery disease rs16880442-G of NONHSAT101414.2 is significantly associated with the coronary artery disease by using GWAS analysis in 2,165 saudi arab ancestry cases//2,266 saudi arab ancestry controls; 503 saudi arab ancestry cases//734 saudi arab ancestry controls(p-value = 6E-7 ;OR = 1.3888888). 0.4 A genome-wide association study reveals susceptibility loci for myocardial infarction/coronary artery disease in Saudi Arabs. NCRV0000002913 26821981 NONHSAT212699.1 rs4731662 T N/A up to 39 european ancestry schizophrenia cases//up to 40 european ancestry schizoaffective cases EFO_0000692 antipsychotic drug Associate Antipsychotic drug dosage in schizophrenia or schizoaffective disorder rs4731662-T of NONHSAT212699.1 is significantly associated with the antipsychotic drug dosage in schizophrenia or schizoaffective disorder by using GWAS analysis in up to 39 european ancestry schizophrenia cases//up to 40 european ancestry schizoaffective cases(p-value = 5E-6 ;OR = 0.2149). 0.4 Genome-wide association analysis to predict optimal antipsychotic dosage in schizophrenia: a pilot study. NCRV0000001808 25574825 NONHSAT191475.1 rs2836751 ? N/A 2,079 european ancestry atopic dermatitis cases//4,212 european ancestry psoriasis cases//11,899 european ancestry controls EFO_0000676 N/A Associate Inflammatory skin disease rs2836751-? of NONHSAT191475.1 is significantly associated with the inflammatory skin disease by using GWAS analysis in 2,079 european ancestry atopic dermatitis cases//4,212 european ancestry psoriasis cases//11,899 european ancestry controls(p-value = 6E-6 ;OR = ?). 0.4 Genome-wide comparative analysis of atopic dermatitis and psoriasis gives insight into opposing genetic mechanisms. NCRV0000000694 28240269 NONHSAT207112.1 rs2227955 G N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008248 N/A Associate Blood protein levels rs2227955-G of NONHSAT207112.1 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 4E-13 ;OR = 1.024). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. NCRV0000002535 17554300 NONHSAT015920.2 rs10883365 G N/A 1,748 european ancestry cases//2,938 european ancestry controls; (see parkes 2007) EFO_0000384 N/A Associate Crohn's disease rs10883365-G of NONHSAT015920.2 is significantly associated with the crohn's disease by using GWAS analysis in 1,748 european ancestry cases//2,938 european ancestry controls; (see parkes 2007)(p-value = 6E-8 ;OR = 1.2). 0.4 Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. NCRV0000002245 23535033 NONHSAT203027.1 rs112724034 ? N/A 303 european ancestry cases; EFO_0000249 N/A Associate Alzheimer's disease (cognitive decline) rs112724034-? of NONHSAT203027.1 is significantly associated with the alzheimer's disease (cognitive decline) by using GWAS analysis in 303 european ancestry cases; (p-value = 9E-13 ;OR = 0.31). 0.4 Genome-wide association study of the rate of cognitive decline in Alzheimer's disease. NCRV0000000891 29228715 NONHSAT195821.1 rs11539086 ? N/A 978 austrian ancestry cases//4,294 european ancestry controls EFO_0005842 N/A Associate Colorectal cancer rs11539086-? of NONHSAT195821.1 is significantly associated with the colorectal cancer by using GWAS analysis in 978 austrian ancestry cases//4,294 european ancestry controls(p-value = 9E-6 ;OR = 1.522). 0.4 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas. NCRV0000003547 27863252 NONHSAT193035.1 rs5769707 T N/A 170,494 european ancestry individuals EFO_0007989 N/A Associate Monocyte percentage of white cells rs5769707-T of NONHSAT193035.1 is significantly associated with the monocyte percentage of white cells by using GWAS analysis in 170,494 european ancestry individuals(p-value = 3E-10 ;OR = 0.02297405). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002848 28641744 NONHSAT144606.2 rs4785741 T N/A 2,998 european ancestry obsessive-compulsive disorder cases//6,898 european ancestry autism spectrum disorder cases EFO_0004242 N/A Associate Obsessive-compulsive disorder or autism spectrum disorder rs4785741-T of NONHSAT144606.2 is significantly associated with the obsessive-compulsive disorder or autism spectrum disorder by using GWAS analysis in 2,998 european ancestry obsessive-compulsive disorder cases//6,898 european ancestry autism spectrum disorder cases(p-value = 7E-7 ;OR = 70.9925). 0.4 Polygenic risk score and heritability estimates reveals a genetic relationship between ASD and OCD. NCRV0000001743 22952603 NONHSAT099296.2 rs12646107 ? N/A 1 american indian ancestry individual//18 african american individuals//10 asian ancestry individuals//325 european ancestry individuals//17 hispanic individuals//10 individuals GO_0042493 N/A Associate Response to amphetamines rs12646107-? of NONHSAT099296.2 is significantly associated with the response to amphetamines by using GWAS analysis in 1 american indian ancestry individual//18 african american individuals//10 asian ancestry individuals//325 european ancestry individuals//17 hispanic individuals//10 individuals(p-value = 4E-6 ;OR = ?). 0.4 Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13). NCRV0000000246 28199695 NONHSAT216841.1 rs13259625 G N/A 41,355 european ancestry men and 43,369 european ancestry women EFO_0008377 N/A Associate Itch intensity from mosquito bite adjusted by bite size rs13259625-G of NONHSAT216841.1 is significantly associated with the itch intensity from mosquito bite adjusted by bite size by using GWAS analysis in 41,355 european ancestry men and 43,369 european ancestry women(p-value = 8E-6 ;OR = 0.0668709). 0.4 GWAS of self-reported mosquito bite size, itch intensity and attractiveness to mosquitoes implicates immune-related predisposition loci. NCRV0000003113 25673412 NONHSAT149677.1 rs2765539 T N/A up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women EFO_0004343 N/A Associate Waist-hip ratio rs2765539-T of NONHSAT149677.1 is significantly associated with the waist-hip ratio by using GWAS analysis in up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women(p-value = 1E-12 ;OR = 0.0271). 0.4 New genetic loci link adipose and insulin biology to body fat distribution. NCRV0000000170 26634245 NONHSAT179751.1 rs2316205 T N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs2316205-T of NONHSAT179751.1 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 1E-7 ;OR = 0.06). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000003463 28250457 NONHSAT183488.1 rs715 ? N/A 476 european ancestry cases//1,733 european ancestry controls; 172 european ancestry cases//1,134 european ancestry controls EFO_1002009 N/A Associate Macular telangiectasia type 2 rs715-? of NONHSAT183488.1 is significantly associated with the macular telangiectasia type 2 by using GWAS analysis in 476 european ancestry cases//1,733 european ancestry controls; 172 european ancestry cases//1,134 european ancestry controls(p-value = 1E-15 ;OR = 1.923077). 0.4 Genome-wide analyses identify common variants associated with macular telangiectasia type 2. NCRV0000000733 25751625 NONHSAT215675.1 rs13365225 A N/A 15,748 european ancestry cases//18,084 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls EFO_0000305 N/A Associate Breast cancer rs13365225-A of NONHSAT215675.1 is significantly associated with the breast cancer by using GWAS analysis in 15,748 european ancestry cases//18,084 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls(p-value = 1E-8 ;OR = 1.0526316). 0.4 Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer. NCRV0000000949 29066090 NONHSAT048106.2 rs62025270 A N/A 602 european ancestry cases//3,366 european ancestry controls; 2,158 cases//5,195 controls EFO_0000768 N/A Associate Idiopathic pulmonary fibrosis rs62025270-A of NONHSAT048106.2 is significantly associated with the idiopathic pulmonary fibrosis by using GWAS analysis in 602 european ancestry cases//3,366 european ancestry controls; 2,158 cases//5,195 controls(p-value = 1E-9 ;OR = 1.27). 0.4 Genetic variants associated with susceptibility to idiopathic pulmonary fibrosis in people of European ancestry: a genome-wide association study. NCRV0000001198 24823311 NONHSAT217855.1 rs10097215 T N/A 8,631 european ancestry individuals EFO_0000319 N/A Associate Plasma omega-6 polyunsaturated fatty acid levels (gamma-linolenic acid) rs10097215-T of NONHSAT217855.1 is significantly associated with the plasma omega-6 polyunsaturated fatty acid levels (gamma-linolenic acid) by using GWAS analysis in 8,631 european ancestry individuals(p-value = 2E-6 ;OR = 0.01). 0.4 Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium. NCRV0000002386 23563607 NONHSAT195785.1 rs2564921 T N/A 8,097 european ancestry tall individuals//8,099 european ancestry short individuals; 4,872 european ancestry tall individuals//4,831 european ancestry short individuals EFO_0004339 N/A Associate Height rs2564921-T of NONHSAT195785.1 is significantly associated with the height by using GWAS analysis in 8,097 european ancestry tall individuals//8,099 european ancestry short individuals; 4,872 european ancestry tall individuals//4,831 european ancestry short individuals(p-value = 2E-12 ;OR = 1.15). 0.4 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. NCRV0000003423 20205591 NONHSAT125479.2 rs4872511 ? N/A 515 african american cases EFO_0000180 N/A Associate Hiv-1 viral setpoint rs4872511-? of NONHSAT125479.2 is significantly associated with the hiv-1 viral setpoint by using GWAS analysis in 515 african american cases(p-value = 9E-6 ;OR = ?). 0.4 Host determinants of HIV-1 control in African Americans. NCRV0000000455 20070850 NONHSAT200200.1 rs2736990 ? N/A 1,752 european ancestry cases//1,745 european ancestry controls EFO_0002508 N/A Associate Parkinson's disease rs2736990-? of NONHSAT200200.1 is significantly associated with the parkinson's disease by using GWAS analysis in 1,752 european ancestry cases//1,745 european ancestry controls(p-value = 7E-8 ;OR = 1.29). 0.4 Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease. NCRV0000003781 22137330 NONHSAT182265.1 rs7565981 ? N/A 93 european ancestry cases//1,504 european ancestry controls; 42 european ancestry cases EFO_0004226 N/A Associate Creutzfeldt-jakob disease (variant) rs7565981-? of NONHSAT182265.1 is significantly associated with the creutzfeldt-jakob disease (variant) by using GWAS analysis in 93 european ancestry cases//1,504 european ancestry controls; 42 european ancestry cases(p-value = 4E-8 ;OR = 2.98). 0.4 Genome-wide study links MTMR7 gene to variant Creutzfeldt-Jakob risk. NCRV0000003434 23535729 NONHSAT173881.1 rs3803662 A N/A 10,052 european ancestry cases//12,575 european ancestry controls; 45,290 european ancestry cases//41,880 european ancestry controls EFO_0000305 N/A Associate Breast cancer rs3803662-A of NONHSAT173881.1 is significantly associated with the breast cancer by using GWAS analysis in 10,052 european ancestry cases//12,575 european ancestry controls; 45,290 european ancestry cases//41,880 european ancestry controls(p-value = 2E-114 ;OR = 1.24). 0.4 Large-scale genotyping identifies 41 new loci associated with breast cancer risk. NCRV0000003867 27790247 NONHSAT184204.1 rs16867253 ? N/A 9,618 european ancestry individuals; 19,796 european ancestry individuals EFO_0006988 N/A Associate Age-related diseases mortality and associated endophenotypes rs16867253-? of NONHSAT184204.1 is significantly associated with the age-related diseases mortality and associated endophenotypes by using GWAS analysis in 9,618 european ancestry individuals; 19,796 european ancestry individuals(p-value = 6E-7 ;OR = ?). 0.4 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases. NCRV0000003724 29064472 NONHSAT192949.1 rs61743746 T N/A 114 african ancestry schizophrenia cases//69 african schizo-affective cases//41 african ancestry bipolar disorder cases//76 african ancestry controls//116 european ancestry schizophrenia cases//86 european ancestry schizo-affective cases//165 european ancestry bipolar disorder cases//182 european ancestry controls EFO_0008434 N/A Associate Initial pursuit acceleration rs61743746-T of NONHSAT192949.1 is significantly associated with the initial pursuit acceleration by using GWAS analysis in 114 african ancestry schizophrenia cases//69 african schizo-affective cases//41 african ancestry bipolar disorder cases//76 african ancestry controls//116 european ancestry schizophrenia cases//86 european ancestry schizo-affective cases//165 european ancestry bipolar disorder cases//182 european ancestry controls(p-value = 8E-10 ;OR = ?). 0.4 Genome-wide association studies of smooth pursuit and antisaccade eye movements in psychotic disorders: findings from the B-SNIP study. NCRV0000002639 26297903 NONHSAT207130.1 rs3101942 ? N/A 706 european ancestry cases EFO_0000289 N/A Associate Manic episodes in bipolar disorder rs3101942-? of NONHSAT207130.1 is significantly associated with the manic episodes in bipolar disorder by using GWAS analysis in 706 european ancestry cases(p-value = 7E-6 ;OR = 1.733). 0.4 Genetics of long-term treatment outcome in bipolar disorder. NCRV0000003880 28540026 NONHSAT218016.1 rs56223946 ? N/A up to 6,197 european ancestry asd cases//up to 7,377 european ancestry controls//up to 1,190 asd cases//up to 1,190 controls EFO_0003756 N/A Associate Autism spectrum disorder rs56223946-? of NONHSAT218016.1 is significantly associated with the autism spectrum disorder by using GWAS analysis in up to 6,197 european ancestry asd cases//up to 7,377 european ancestry controls//up to 1,190 asd cases//up to 1,190 controls(p-value = 3E-9 ;OR = 1.098901). 0.4 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. NCRV0000000988 26192919 NONHSAT206871.1 rs17119 G N/A 5,956 european ancestry cases//14,927 european ancestry controls; 14,594 european ancestry cases//26,715 european ancestry controls//151 iranian ancestry cases//342 iranian ancestry controls//184 indian ancestry cases//990 indian ancestry controls//1,690 east asian ancestry cases//3,719 east asian ancestry controls EFO_0000384 N/A Associate Crohn's disease rs17119-G of NONHSAT206871.1 is significantly associated with the crohn's disease by using GWAS analysis in 5,956 european ancestry cases//14,927 european ancestry controls; 14,594 european ancestry cases//26,715 european ancestry controls//151 iranian ancestry cases//342 iranian ancestry controls//184 indian ancestry cases//990 indian ancestry controls//1,690 east asian ancestry cases//3,719 east asian ancestry controls(p-value = 2E-8 ;OR = 1.0885191). 0.4 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. NCRV0000001622 28548082 NONHSAT179793.1 rs7412 T N/A up to 1,476 mylopotamos (founder/genetic isolate) individuals//up to 1,737 pomak (founder/genetic isolate) individuals EFO_0004611 N/A Associate Low density lipoprotein cholesterol rs7412-T of NONHSAT179793.1 is significantly associated with the low density lipoprotein cholesterol by using GWAS analysis in up to 1,476 mylopotamos (founder/genetic isolate) individuals//up to 1,737 pomak (founder/genetic isolate) individuals(p-value = 3E-19 ;OR = 0.419). 0.4 Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits. NCRV0000001547 27863252 NONHSAT144904.2 rs4455005 A N/A 166,066 european ancestry individuals EFO_0004309 N/A Associate Platelet count rs4455005-A of NONHSAT144904.2 is significantly associated with the platelet count by using GWAS analysis in 166,066 european ancestry individuals(p-value = 4E-15 ;OR = 0.03022036). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001867 28039263 NONHSAT030960.2 rs10850703 A N/A 511 european ancestry testicular cancer survivor individuals; 238 children EFO_0006951 N/A Associate Cisplatin-induced ototoxicity rs10850703-A of NONHSAT030960.2 is significantly associated with the cisplatin-induced ototoxicity by using GWAS analysis in 511 european ancestry testicular cancer survivor individuals; 238 children(p-value = 8E-6 ;OR = 4.472). 0.4 Variants in WFS1 and Other Mendelian Deafness Genes Are Associated with Cisplatin-Associated Ototoxicity. NCRV0000002065 23555300 NONHSAT169922.1 rs7141276 A N/A up to 2,706 european ancestry cases EFO_0000685 N/A Associate Response to anti-tnf therapy in rheumatoid arthritis rs7141276-A of NONHSAT169922.1 is significantly associated with the response to anti-tnf therapy in rheumatoid arthritis by using GWAS analysis in up to 2,706 european ancestry cases(p-value = 2E-6 ;OR = 0.37). 0.4 Genome-wide association study and gene expression analysis identifies CD84 as a predictor of response to etanercept therapy in rheumatoid arthritis. NCRV0000001124 26634245 NONHSAT023214.2 rs146103351 A N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs146103351-A of NONHSAT023214.2 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 1E-6 ;OR = 0.167). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000000585 26030696 NONHSAT199568.1 rs62343714 T N/A 5,385 european ancestry chronic obstructive pulmonary disease cases//901 african american chronic obstructive pulmonary disease cases//3,613 european ancestry controls//2,132 african american controls EFO_0000341 N/A Associate Emphysema imaging phenotypes rs62343714-T of NONHSAT199568.1 is significantly associated with the emphysema imaging phenotypes by using GWAS analysis in 5,385 european ancestry chronic obstructive pulmonary disease cases//901 african american chronic obstructive pulmonary disease cases//3,613 european ancestry controls//2,132 african american controls(p-value = 1E-6 ;OR = 0.12). 0.4 A Genome-Wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes. NCRV0000000224 27322543 NONHSAT201231.1 rs7684253 ? N/A 59,674 european ancestry cases//316,078 european ancestry controls EFO_0003821 N/A Associate Migraine rs7684253-? of NONHSAT201231.1 is significantly associated with the migraine by using GWAS analysis in 59,674 european ancestry cases//316,078 european ancestry controls(p-value = 3E-9 ;OR = 1.0416667). 0.4 Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine. NCRV0000001341 27863252 NONHSAT119065.2 rs6967414 A N/A 173,039 european ancestry individuals EFO_0004348 N/A Associate Hematocrit rs6967414-A of NONHSAT119065.2 is significantly associated with the hematocrit by using GWAS analysis in 173,039 european ancestry individuals(p-value = 1E-10 ;OR = 0.0371133). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001151 27863252 NONHSAT205084.1 rs56235845 G N/A 173,039 european ancestry individuals EFO_0004348 N/A Associate Hematocrit rs56235845-G of NONHSAT205084.1 is significantly associated with the hematocrit by using GWAS analysis in 173,039 european ancestry individuals(p-value = 9E-11 ;OR = 0.02442433). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003678 26198764 NONHSAT128128.2 rs13276960 G N/A 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls EFO_0000692 N/A Associate Schizophrenia rs13276960-G of NONHSAT128128.2 is significantly associated with the schizophrenia by using GWAS analysis in 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls(p-value = 5E-6 ;OR = 1.0638298). 0.4 Genome-wide association study of schizophrenia in Ashkenazi Jews. NCRV0000000014 23563607 NONHSAT186578.1 rs10189761 A N/A 93,015 european ancestry overweight individuals//32,858 european ancestry class i obese individuals//9,889 european ancestry class ii obese individuals//2,896 european ancestry class iii obese individuals//up to 65,840 european ancestry controls; 65,332 european ancestry overweight individuals//22,373 european ancestry class i obese individuals//5,476 european ancestry class ii obese individuals//1,162 european ancestry class iii obese individuals//up to 39,294 european ancestry controls EFO_0001073 N/A Associate Obesity rs10189761-A of NONHSAT186578.1 is significantly associated with the obesity by using GWAS analysis in 93,015 european ancestry overweight individuals//32,858 european ancestry class i obese individuals//9,889 european ancestry class ii obese individuals//2,896 european ancestry class iii obese individuals//up to 65,840 european ancestry controls; 65,332 european ancestry overweight individuals//22,373 european ancestry class i obese individuals//5,476 european ancestry class ii obese individuals//1,162 european ancestry class iii obese individuals//up to 39,294 european ancestry controls(p-value = 6E-24 ;OR = 1.24). 0.4 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. NCRV0000001550 26305897 NONHSAT183033.1 rs6432852 ? N/A 1,564 african american cases//369 african american diabetic controls//1,288 african american non-diabetic controls//538 american indian ancestry cases//319 american indian ancestry diabetic controls//342 european ancestry cases//404 european ancestry diabetic controls//779 mexican ancestry cases//594 mexican ancestry diabetic controls; 950 african american cases//50 african american diabetic controls//1,887 african american non-diabetic controls//471 american indian ancestry cases//340 american indian ancestry diabetic controls//486 american indian ancestry non-diabetic controls//582 european ancestry ancestry cases//205 european ancestry diabetic controls//2,568 european ancestry non-diabetic controls EFO_0000401 N/A Associate Diabetic kidney disease rs6432852-? of NONHSAT183033.1 is significantly associated with the diabetic kidney disease by using GWAS analysis in 1,564 african american cases//369 african american diabetic controls//1,288 african american non-diabetic controls//538 american indian ancestry cases//319 american indian ancestry diabetic controls//342 european ancestry cases//404 european ancestry diabetic controls//779 mexican ancestry cases//594 mexican ancestry diabetic controls; 950 african american cases//50 african american diabetic controls//1,887 african american non-diabetic controls//471 american indian ancestry cases//340 american indian ancestry diabetic controls//486 american indian ancestry non-diabetic controls//582 european ancestry ancestry cases//205 european ancestry diabetic controls//2,568 european ancestry non-diabetic controls(p-value = 5E-6 ;OR = 1.1764705). 0.4 Genome-Wide Association and Trans-ethnic Meta-Analysis for Advanced Diabetic Kidney Disease: Family Investigation of Nephropathy and Diabetes (FIND). NCRV0000000964 21102462 NONHSAT018095.2 rs900145 C N/A 86,142 european ancestry female individuals//557 old order amish (founder/genetic isolate) female individuals//1,103 erasmus rucphen (founder/genetic isolate) female individuals; up to 12,813 european ancestry female individuals//910 val borbera (founder/genetic isolate) female individuals//348 orcadian (founder/genetic isolate) female individuals//338 friuli venezia giulia (founder/genetic isolate) female individuals//322 carlantino (founder/genetic/isolate) female individuals EFO_0004703 N/A Associate Menarche (age at onset) rs900145-C of NONHSAT018095.2 is significantly associated with the menarche (age at onset) by using GWAS analysis in 86,142 european ancestry female individuals//557 old order amish (founder/genetic isolate) female individuals//1,103 erasmus rucphen (founder/genetic isolate) female individuals; up to 12,813 european ancestry female individuals//910 val borbera (founder/genetic isolate) female individuals//348 orcadian (founder/genetic isolate) female individuals//338 friuli venezia giulia (founder/genetic isolate) female individuals//322 carlantino (founder/genetic/isolate) female individuals(p-value = 2E-8 ;OR = 2.3). 0.4 Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. NCRV0000001406 27863252 NONHSAT006319.2 rs4970966 T N/A 170,721 european ancestry individuals EFO_0005091 N/A Associate Monocyte count rs4970966-T of NONHSAT006319.2 is significantly associated with the monocyte count by using GWAS analysis in 170,721 european ancestry individuals(p-value = 5E-64 ;OR = 0.072678). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000481 27863252 NONHSAT119344.2 rs2254594 A N/A 171,529 european ancestry individuals EFO_0005192 N/A Associate Red cell distribution width rs2254594-A of NONHSAT119344.2 is significantly associated with the red cell distribution width by using GWAS analysis in 171,529 european ancestry individuals(p-value = 3E-12 ;OR = 0.02475739). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000023 27863252 NONHSAT191585.1 rs741951 A N/A 172,433 european ancestry individuals EFO_0004526 N/A Associate Mean corpuscular volume rs741951-A of NONHSAT191585.1 is significantly associated with the mean corpuscular volume by using GWAS analysis in 172,433 european ancestry individuals(p-value = 2E-22 ;OR = 0.04827801). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001646 27863252 NONHSAT191585.1 rs741951 A N/A 172,332 european ancestry individuals EFO_0004527 N/A Associate Mean corpuscular hemoglobin rs741951-A of NONHSAT191585.1 is significantly associated with the mean corpuscular hemoglobin by using GWAS analysis in 172,332 european ancestry individuals(p-value = 3E-21 ;OR = 0.04708211). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003443 26634245 NONHSAT047598.2 rs3971860 A N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs3971860-A of NONHSAT047598.2 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 2E-7 ;OR = 0.082). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000001895 27989323 NONHSAT176912.1 rs11263779 G N/A 8,243 finnish ancestry individuals EFO_0005140 N/A Associate Macrophage inflammatory protein 1b levels rs11263779-G of NONHSAT176912.1 is significantly associated with the macrophage inflammatory protein 1b levels by using GWAS analysis in 8,243 finnish ancestry individuals(p-value = 5E-16 ;OR = 0.174). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. NCRV0000003035 26545240 NONHSAT175021.1 rs2019216 C N/A 793 african american cases//948 african american controls//606 hispanic cases//305 hispanic controls EFO_0004710 N/A Associate Pelvic organ prolapse rs2019216-C of NONHSAT175021.1 is significantly associated with the pelvic organ prolapse by using GWAS analysis in 793 african american cases//948 african american controls//606 hispanic cases//305 hispanic controls(p-value = 7E-6 ;OR = 1.2987013). 0.4 Genetic Determinants of Pelvic Organ Prolapse among African American and Hispanic Women in the Women's Health Initiative. NCRV0000002924 28067908 NONHSAT211049.1 rs2858829 ? N/A 12,366 european and unknown ancestry cases//33,609 european and unknown ancestry controls EFO_0000729 N/A Associate Ulcerative colitis rs2858829-? of NONHSAT211049.1 is significantly associated with the ulcerative colitis by using GWAS analysis in 12,366 european and unknown ancestry cases//33,609 european and unknown ancestry controls(p-value = 9E-6 ;OR = ?). 0.4 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. NCRV0000001298 18439548 NONHSAT003744.2 rs1892534 A N/A 6,345 european ancestry female individuals EFO_0000195 N/A Associate C-reactive protein rs1892534-A of NONHSAT003744.2 is significantly associated with the c-reactive protein by using GWAS analysis in 6,345 european ancestry female individuals(p-value = 7E-21 ;OR = 0.17). 0.4 Loci related to metabolic-syndrome pathways including LEPR,HNF1A, IL6R, and GCKR associate with plasma C-reactive protein: the Women's Genome Health Study. NCRV0000003587 19915575 NONHSAT175269.1 rs393152 A N/A 1,713 european ancestry cases//3,978 european ancestry controls; 3,361 european ancestry cases//4,573 european ancestry controls EFO_0002508 N/A Associate Parkinson's disease rs393152-A of NONHSAT175269.1 is significantly associated with the parkinson's disease by using GWAS analysis in 1,713 european ancestry cases//3,978 european ancestry controls; 3,361 european ancestry cases//4,573 european ancestry controls(p-value = 2E-16 ;OR = 1.3). 0.4 Genome-wide association study reveals genetic risk underlying Parkinson's disease. NCRV0000003421 27863252 NONHSAT158283.1 rs182049218 T N/A 171,748 european ancestry individuals EFO_0007993 N/A Associate Lymphocyte percentage of white cells rs182049218-T of NONHSAT158283.1 is significantly associated with the lymphocyte percentage of white cells by using GWAS analysis in 171,748 european ancestry individuals(p-value = 1E-9 ;OR = 0.0626506). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003833 24586183 NONHSAT173325.1 rs4889009 G N/A 1,769 european ancestry cases//16,528 european ancestry controls; 922 european ancestry cases//8,068 european ancestry controls EFO_1000627 N/A Associate Thyroid peroxidase antibody positivity rs4889009-G of NONHSAT173325.1 is significantly associated with the thyroid peroxidase antibody positivity by using GWAS analysis in 1,769 european ancestry cases//16,528 european ancestry controls; 922 european ancestry cases//8,068 european ancestry controls(p-value = 3E-7 ;OR = 1.14). 0.4 Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease. NCRV0000003216 24047446 NONHSAT107764.2 rs3950186 T N/A 1,080 european ancestry cases//1,588 european ancestry controls EFO_0006788 N/A Associate Anxiety and major depressive disorder rs3950186-T of NONHSAT107764.2 is significantly associated with the anxiety and major depressive disorder by using GWAS analysis in 1,080 european ancestry cases//1,588 european ancestry controls(p-value = 8E-6 ;OR = 1.319). 0.4 Genome-wide association study of co-occurring anxiety in major depression. NCRV0000000209 25279986 NONHSAT159747.1 rs4938573 C N/A 2,728 european ancestry cases//7,758 european ancestry controls; 1,795 european ancestry cases//5,586 european ancestry controls EFO_0000096 N/A Associate Follicular lymphoma rs4938573-C of NONHSAT159747.1 is significantly associated with the follicular lymphoma by using GWAS analysis in 2,728 european ancestry cases//7,758 european ancestry controls; 1,795 european ancestry cases//5,586 european ancestry controls(p-value = 6E-20 ;OR = 1.34). 0.4 Genome-wide association study identifies five susceptibility loci for follicular lymphoma outside the HLA region. NCRV0000001241 25282103 NONHSAT021290.2 rs1681630 T N/A 253,288 european ancestry individuals; 80,067 european ancestry individuals EFO_0004339 N/A Associate Height rs1681630-T of NONHSAT021290.2 is significantly associated with the height by using GWAS analysis in 253,288 european ancestry individuals; 80,067 european ancestry individuals(p-value = 2E-20 ;OR = 0.029). 0.4 Defining the role of common variation in the genomic and biological architecture of adult human height. NCRV0000003686 27225129 NONHSAT151920.1 rs1008078 ? N/A 405,072 european ancestry individuals EFO_0004784 N/A Associate Educational attainment (college completion) rs1008078-? of NONHSAT151920.1 is significantly associated with the educational attainment (college completion) by using GWAS analysis in 405,072 european ancestry individuals(p-value = 5E-9 ;OR = 1.0357074). 0.4 Genome-wide association study identifies 74 loci associated with educational attainment. NCRV0000002003 29059683 NONHSAT108577.2 rs3094146 C N/A 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls EFO_0000305 N/A Associate Breast cancer rs3094146-C of NONHSAT108577.2 is significantly associated with the breast cancer by using GWAS analysis in 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls(p-value = 7E-7 ;OR = 0.0543). 0.4 Association analysis identifies 65 new breast cancer risk loci. NCRV0000002395 20526338 NONHSAT156108.1 rs869244 A N/A up to 3,991 european ancestry individuals; up to 840 african american individuals GO_0070527 N/A Associate Platelet aggregation rs869244-A of NONHSAT156108.1 is significantly associated with the platelet aggregation by using GWAS analysis in up to 3,991 european ancestry individuals; up to 840 african american individuals(p-value = 3E-12 ;OR = ?). 0.4 Genome-wide meta-analyses identifies seven loci associated with platelet aggregation in response to agonists. NCRV0000001839 20694148 NONHSAT174304.1 rs2113334 ? N/A 2,554 indian asian ancestry individuals; 2,240 indian asian ancestry individuals EFO_0000195 N/A Associate Metabolic syndrome rs2113334-? of NONHSAT174304.1 is significantly associated with the metabolic syndrome by using GWAS analysis in 2,554 indian asian ancestry individuals; 2,240 indian asian ancestry individuals(p-value = 3E-6 ;OR = ?). 0.4 A genome-wide association study of the metabolic syndrome in Indian Asian men. NCRV0000001331 26053186 NONHSAT195361.1 rs78745845 ? N/A 362 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//438 european ancestry current smoker individuals//449 latino current smoker individuals//704 japanese ancestry current smoker individuals EFO_0001071 in smokers Associate 3-hydroxypropylmercapturic acid levels in smokers rs78745845-? of NONHSAT195361.1 is significantly associated with the 3-hydroxypropylmercapturic acid levels in smokers by using GWAS analysis in 362 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//438 european ancestry current smoker individuals//449 latino current smoker individuals//704 japanese ancestry current smoker individuals(p-value = 3E-6 ;OR = 1.0382). 0.4 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. NCRV0000002651 26634245 NONHSAT217070.1 rs184394765 A N/A 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases EFO_0003892 N/A Associate Post bronchodilator fev1 in copd rs184394765-A of NONHSAT217070.1 is significantly associated with the post bronchodilator fev1 in copd by using GWAS analysis in 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases(p-value = 4E-6 ;OR = 142.9). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000002406 21130836 NONHSAT068481.2 rs11542478 A N/A up to 4,039 european ancestry individuals EFO_0004363 N/A Associate Information processing speed rs11542478-A of NONHSAT068481.2 is significantly associated with the information processing speed by using GWAS analysis in up to 4,039 european ancestry individuals(p-value = 9E-6 ;OR = 0.19). 0.4 Whole genome association scan for genetic polymorphisms influencing information processing speed. NCRV0000001959 23326517 NONHSAT150261.1 rs1061147 A N/A 3,772 european ancestry cases//16,033 european ancestry controls; 264 asian ancestry cases//3,926 asian ancestry controls EFO_0001365 N/A Associate Age-related macular degeneration rs1061147-A of NONHSAT150261.1 is significantly associated with the age-related macular degeneration by using GWAS analysis in 3,772 european ancestry cases//16,033 european ancestry controls; 264 asian ancestry cases//3,926 asian ancestry controls(p-value = 7E-32 ;OR = 1.4). 0.4 Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis. NCRV0000003745 27863252 NONHSAT081839.2 rs35542019 T N/A 173,039 european ancestry individuals EFO_0004348 N/A Associate Hematocrit rs35542019-T of NONHSAT081839.2 is significantly associated with the hematocrit by using GWAS analysis in 173,039 european ancestry individuals(p-value = 4E-16 ;OR = 0.02915033). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003058 21300955 NONHSAT191834.1 rs2836878 G N/A 63,678 european ancestry individuals 1,792 erasmus ruchpen individuals//715 orcadian individuals; 16,540 european ancestry individuals EFO_0000195 N/A Associate C-reactive protein levels rs2836878-G of NONHSAT191834.1 is significantly associated with the c-reactive protein levels by using GWAS analysis in 63,678 european ancestry individuals 1,792 erasmus ruchpen individuals//715 orcadian individuals; 16,540 european ancestry individuals(p-value = 2E-7 ;OR = 0.032). 0.4 Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels. NCRV0000000303 26252872 NONHSAT210772.1 rs140295727 C N/A 472 european ancestry cases//47 cases HP_0100543 N/A Associate Cognitive decline rate in late mild cognitive impairment rs140295727-C of NONHSAT210772.1 is significantly associated with the cognitive decline rate in late mild cognitive impairment by using GWAS analysis in 472 european ancestry cases//47 cases(p-value = 1E-8 ;OR = 0.4354). 0.4 Variations in the FRA10AC1 Fragile Site and 15q21 Are Associated with Cerebrospinal Fluid Abeta1-42 Level. NCRV0000003062 21441570 NONHSAT153440.1 rs3007729 T N/A 973 european ancestry cases//1,856 european ancestry controls EFO_0003770 N/A Associate Diabetic retinopathy rs3007729-T of NONHSAT153440.1 is significantly associated with the diabetic retinopathy by using GWAS analysis in 973 european ancestry cases//1,856 european ancestry controls(p-value = 5E-6 ;OR = 1.35). 0.4 Genome-wide meta-analysis for severe diabetic retinopathy. NCRV0000000816 24165912 NONHSAT017523.2 rs10832417 T N/A 1,840 han chinese ancestry individuals; 659 han chinese ancestry individuals EFO_0006335 N/A Associate Blood pressure measurement (high sodium intervention) rs10832417-T of NONHSAT017523.2 is significantly associated with the blood pressure measurement (high sodium intervention) by using GWAS analysis in 1,840 han chinese ancestry individuals; 659 han chinese ancestry individuals(p-value = 1E-6 ;OR = 1.3). 0.4 Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese. NCRV0000003490 27989323 NONHSAT022478.2 rs190553906 G N/A 3,636 finnish ancestry individuals EFO_0005140 N/A Associate Interleukin-18 levels rs190553906-G of NONHSAT022478.2 is significantly associated with the interleukin-18 levels by using GWAS analysis in 3,636 finnish ancestry individuals(p-value = 9E-6 ;OR = 0.9941). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. NCRV0000001967 20881960 NONHSAT171731.1 rs10152591 A N/A 133,653 european ancestry individuals; 50,074 european ancestry individuals EFO_0004339 N/A Associate Height rs10152591-A of NONHSAT171731.1 is significantly associated with the height by using GWAS analysis in 133,653 european ancestry individuals; 50,074 european ancestry individuals(p-value = 3E-10 ;OR = 0.041). 0.4 Hundreds of variants clustered in genomic loci and biological pathways affect human height. NCRV0000003301 23104005 NONHSAT129017.2 rs188140481 A N/A 5,141 european ancestry cases//54,444 european ancestry controls; up to 5,470 european ancestry cases//up to 7,583 european ancestry controls EFO_0001663 N/A Associate Prostate cancer rs188140481-A of NONHSAT129017.2 is significantly associated with the prostate cancer by using GWAS analysis in 5,141 european ancestry cases//54,444 european ancestry controls; up to 5,470 european ancestry cases//up to 7,583 european ancestry controls(p-value = 6E-34 ;OR = 2.9). 0.4 A study based on whole-genome sequencing yields a rare variant at 8q24 associated with prostate cancer. NCRV0000003042 24740154 NONHSAT216396.1 rs6983267 G N/A 931 european ancestry cases//4,120 european ancestry controls; 2,571 european ancestry cases//921 european ancestry controls EFO_0001663 N/A Associate Prostate cancer (early onset) rs6983267-G of NONHSAT216396.1 is significantly associated with the prostate cancer (early onset) by using GWAS analysis in 931 european ancestry cases//4,120 european ancestry controls; 2,571 european ancestry cases//921 european ancestry controls(p-value = 1E-8 ;OR = 1.36). 0.4 Genome-wide association scan for variants associated with early-onset prostate cancer. NCRV0000003665 23300138 NONHSAT067101.2 rs1047781 T N/A 3,451 han chinese ancestry individuals; 10,326 chinese ancestry individuals EFO_0005127 N/A Associate Tumor biomarkers rs1047781-T of NONHSAT067101.2 is significantly associated with the tumor biomarkers by using GWAS analysis in 3,451 han chinese ancestry individuals; 10,326 chinese ancestry individuals(p-value = 6E-209 ;OR = 0.238). 0.4 A genome wide association study of genetic loci that influence tumour biomarkers cancer antigen 19-9, carcinoembryonic antigen and alpha fetoprotein and their associations with cancer risk. NCRV0000003271 23067351 NONHSAT179793.1 rs7412 ? N/A 1,249 african american individuals EFO_0000319 N/A Associate Ldl cholesterol rs7412-? of NONHSAT179793.1 is significantly associated with the ldl cholesterol by using GWAS analysis in 1,249 african american individuals(p-value = 2E-9 ;OR = 12.3). 0.4 High density GWAS for LDL cholesterol in African Americans using electronic medical records reveals a strong protective variant in APOE. NCRV0000003169 28869590 NONHSAT079869.2 rs4812829 A N/A 6,353 south asian ancestry cases//7,179 south asian ancestry controls//3,871 european ancestry cases//16,427 european ancestry controls//34,840 cases//114,981 controls; 7,888 south asian ancestry cases//20,679 south asian ancestry controls//387 european ancestry cases//2,092 european ancestry controls//19,998 east asian ancestry cases//30,983 east asian ancestry controls EFO_0001360 N/A Associate Type 2 diabetes rs4812829-A of NONHSAT079869.2 is significantly associated with the type 2 diabetes by using GWAS analysis in 6,353 south asian ancestry cases//7,179 south asian ancestry controls//3,871 european ancestry cases//16,427 european ancestry controls//34,840 cases//114,981 controls; 7,888 south asian ancestry cases//20,679 south asian ancestry controls//387 european ancestry cases//2,092 european ancestry controls//19,998 east asian ancestry cases//30,983 east asian ancestry controls(p-value = 4E-10 ;OR = 0.057). 0.4 Identification of new susceptibility loci for type 2 diabetes and shared etiological pathways with coronary heart disease. NCRV0000000952 26835600 NONHSAT186129.1 rs1595824 T N/A 38,937 european ancestry morning chronotype individuals//50,346 european ancestry evening chronotype individuals EFO_0004354 N/A Associate Morning vs. evening chronotype rs1595824-T of NONHSAT186129.1 is significantly associated with the morning vs. evening chronotype by using GWAS analysis in 38,937 european ancestry morning chronotype individuals//50,346 european ancestry evening chronotype individuals(p-value = 1E-10 ;OR = 1.08). 0.4 GWAS of 89,283 individuals identifies genetic variants associated with self-reporting of being a morning person. NCRV0000003351 27863252 NONHSAT207106.1 rs6929796 A N/A 170,763 european ancestry individuals EFO_0007986 N/A Associate High light scatter reticulocyte count rs6929796-A of NONHSAT207106.1 is significantly associated with the high light scatter reticulocyte count by using GWAS analysis in 170,763 european ancestry individuals(p-value = 7E-12 ;OR = 0.03316401). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002268 23273568 NONHSAT154261.1 rs2205960 T N/A 1,656 han chinese ancestry cases//3,394 han chinese ancestry controls; 3,256 han chinese ancestry cases//5,667 han chinese ancestry controls//453 thai ancestry cases//963 thai ancestry controls EFO_0002690 N/A Associate Systemic lupus erythematosus rs2205960-T of NONHSAT154261.1 is significantly associated with the systemic lupus erythematosus by using GWAS analysis in 1,656 han chinese ancestry cases//3,394 han chinese ancestry controls; 3,256 han chinese ancestry cases//5,667 han chinese ancestry controls//453 thai ancestry cases//963 thai ancestry controls(p-value = 3E-12 ;OR = 1.36). 0.4 Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians. NCRV0000003044 27863252 NONHSAT061038.2 rs10409243 T N/A 169,822 european ancestry individuals EFO_0007987 N/A Associate Granulocyte count rs10409243-T of NONHSAT061038.2 is significantly associated with the granulocyte count by using GWAS analysis in 169,822 european ancestry individuals(p-value = 7E-9 ;OR = 0.02169456). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001116 27863252 NONHSAT061038.2 rs10409243 T N/A 169,219 european ancestry individuals EFO_0007988 N/A Associate Myeloid white cell count rs10409243-T of NONHSAT061038.2 is significantly associated with the myeloid white cell count by using GWAS analysis in 169,219 european ancestry individuals(p-value = 1E-9 ;OR = 0.02282543). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003276 27989323 NONHSAT089391.2 rs62243190 C N/A 8,243 finnish ancestry individuals EFO_0005140 N/A Associate Macrophage inflammatory protein 1b levels rs62243190-C of NONHSAT089391.2 is significantly associated with the macrophage inflammatory protein 1b levels by using GWAS analysis in 8,243 finnish ancestry individuals(p-value = 4E-29 ;OR = 0.4572). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. NCRV0000000370 23028342 NONHSAT189084.1 rs6027506 A N/A up to 2,916 european ancestry type 1 diabetes cases with nephropathy//3,315 european ancestry type 1 diabetes cases without nephropathy; up to 1,493 european ancestry type 1 diabetes cases with nephropathy//3,191 european ancestry type 1 diabetes cases without nephropathy EFO_0004996 N/A Associate Type 1 diabetes nephropathy rs6027506-A of NONHSAT189084.1 is significantly associated with the type 1 diabetes nephropathy by using GWAS analysis in up to 2,916 european ancestry type 1 diabetes cases with nephropathy//3,315 european ancestry type 1 diabetes cases without nephropathy; up to 1,493 european ancestry type 1 diabetes cases with nephropathy//3,191 european ancestry type 1 diabetes cases without nephropathy(p-value = 5E-6 ;OR = 1.22). 0.4 New susceptibility loci associated with kidney disease in type 1 diabetes. NCRV0000000827 28991256 NONHSAT192397.1 rs17002069 C N/A 7,699 chinese ancestry cases//35,476 european ancestry cases//18,327 chinese ancestry controls//46,839 european ancestry controls; 4,384 chinese ancestry cases//5,770 chinese ancestry controls EFO_0000692 N/A Associate Schizophrenia rs17002069-C of NONHSAT192397.1 is significantly associated with the schizophrenia by using GWAS analysis in 7,699 chinese ancestry cases//35,476 european ancestry cases//18,327 chinese ancestry controls//46,839 european ancestry controls; 4,384 chinese ancestry cases//5,770 chinese ancestry controls(p-value = 2E-7 ;OR = 1.062). 0.4 Genome-wide association analysis identifies 30 new susceptibility loci for schizophrenia. NCRV0000002365 23509613 NONHSAT173338.1 rs8060581 ? N/A 183 european ancestry acl-positive cases//487 european ancestry acl-negative controls//127 european ancestry lac-positive cases//581 european ancestry lac-negative controls//136 european ancestry anti-b2gpi-positive cases//360 european ancestry anti-b2gpi-negative controls EFO_0005200 N/A Associate Presence of antiphospholipid antibodies rs8060581-? of NONHSAT173338.1 is significantly associated with the presence of antiphospholipid antibodies by using GWAS analysis in 183 european ancestry acl-positive cases//487 european ancestry acl-negative controls//127 european ancestry lac-positive cases//581 european ancestry lac-negative controls//136 european ancestry anti-b2gpi-positive cases//360 european ancestry anti-b2gpi-negative controls(p-value = 1E-6 ;OR = 6.714). 0.4 Genome-wide association study of antiphospholipid antibodies. NCRV0000000185 27126917 NONHSAT123553.2 rs146885652 A N/A 941 european ancestry individuals EFO_0008568 N/A Associate Night sleep phenotypes rs146885652-A of NONHSAT123553.2 is significantly associated with the night sleep phenotypes by using GWAS analysis in 941 european ancestry individuals(p-value = 3E-7 ;OR = 0.3099). 0.4 Genome-wide association analysis of actigraphic sleep phenotypes in the LIFE Adult Study. NCRV0000002610 24097068 NONHSAT107886.2 rs3757354 T N/A 94,595 european ancestry individuals; 93,982 european ancestry individuals EFO_0000319 N/A Associate Cholesterol//total rs3757354-T of NONHSAT107886.2 is significantly associated with the cholesterol//total by using GWAS analysis in 94,595 european ancestry individuals; 93,982 european ancestry individuals(p-value = 2E-15 ;OR = 0.035). 0.4 Discovery and refinement of loci associated with lipid levels. NCRV0000003921 21732829 NONHSAT193287.1 rs6519955 A N/A 856 european ancestry cases//2,836 european ancestry controls; 1,298 european ancestry cases//7,136 european ancestry controls EFO_0004229 N/A Associate Dupuytren's disease rs6519955-A of NONHSAT193287.1 is significantly associated with the dupuytren's disease by using GWAS analysis in 856 european ancestry cases//2,836 european ancestry controls; 1,298 european ancestry cases//7,136 european ancestry controls(p-value = 3E-33 ;OR = 1.54). 0.4 Wnt signaling and Dupuytren's disease. NCRV0000000259 24852370 NONHSAT174088.1 rs4575545 ? N/A 1,346 han chinese ancestry individuals; 3,235 she chinese ancestry individuals EFO_1000627 N/A Associate Serum thyroid-stimulating hormone levels rs4575545-? of NONHSAT174088.1 is significantly associated with the serum thyroid-stimulating hormone levels by using GWAS analysis in 1,346 han chinese ancestry individuals; 3,235 she chinese ancestry individuals(p-value = 2E-6 ;OR = ?). 0.4 Genome-wide association study identifies a novel susceptibility gene for serum TSH levels in Chinese populations. NCRV0000001649 28441456 NONHSAT010398.2 rs10924182 G N/A 2,187 european ancestry individuals EFO_0007841 N/A Associate Facial morphology (factor 20) rs10924182-G of NONHSAT010398.2 is significantly associated with the facial morphology (factor 20) by using GWAS analysis in 2,187 european ancestry individuals(p-value = 2E-6 ;OR = 0.3666). 0.4 Genome-wide association study of facial morphology reveals novel associations with FREM1 and PARK2. NCRV0000003930 25102180 NONHSAT017523.2 rs231356 T N/A 8,284 african american cases//15,543 african american controls; 6,061 african american cases//5,483 african american controls//8,130 european ancestry cases//38,987 european ancestry controls EFO_0001360 N/A Associate Type 2 diabetes rs231356-T of NONHSAT017523.2 is significantly associated with the type 2 diabetes by using GWAS analysis in 8,284 african american cases//15,543 african american controls; 6,061 african american cases//5,483 african american controls//8,130 european ancestry cases//38,987 european ancestry controls(p-value = 4E-8 ;OR = 1.09). 0.4 Meta-analysis of genome-wide association studies in African Americans provides insights into the genetic architecture of type 2 diabetes. NCRV0000001873 26634245 NONHSAT047599.2 rs4887086 T N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs4887086-T of NONHSAT047599.2 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 1E-6 ;OR = 0.055). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000002670 23319000 NONHSAT154636.1 rs10863681 G N/A up to 398 european ancestry individuals EFO_0005132 N/A Associate Metabolite levels (hva-5-hiaa factor score) rs10863681-G of NONHSAT154636.1 is significantly associated with the metabolite levels (hva-5-hiaa factor score) by using GWAS analysis in up to 398 european ancestry individuals(p-value = 6E-6 ;OR = 0.2262). 0.4 Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid. NCRV0000000913 21886157 NONHSAT143240.2 rs6499165 A N/A 2,820 european ancestry individuals EFO_0004725 N/A Associate Metabolic traits rs6499165-A of NONHSAT143240.2 is significantly associated with the metabolic traits by using GWAS analysis in 2,820 european ancestry individuals(p-value = 1E-18 ;OR = 0.11). 0.4 Human metabolic individuality in biomedical and pharmaceutical research. NCRV0000003953 27863252 NONHSAT008671.2 rs1434282 T N/A 164,454 european ancestry individuals EFO_0004584 N/A Associate Mean platelet volume rs1434282-T of NONHSAT008671.2 is significantly associated with the mean platelet volume by using GWAS analysis in 164,454 european ancestry individuals(p-value = 6E-9 ;OR = 0.02375724). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000471 24165912 NONHSAT017523.2 rs10832417 T N/A 1,840 han chinese ancestry individuals; 659 han chinese ancestry individuals EFO_0006340 N/A Associate Blood pressure measurement (high sodium intervention) rs10832417-T of NONHSAT017523.2 is significantly associated with the blood pressure measurement (high sodium intervention) by using GWAS analysis in 1,840 han chinese ancestry individuals; 659 han chinese ancestry individuals(p-value = 4E-7 ;OR = 1.05). 0.4 Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese. NCRV0000000394 27863252 NONHSAT026062.2 rs10466905 A N/A 164,339 european ancestry individuals EFO_0007985 N/A Associate Plateletcrit rs10466905-A of NONHSAT026062.2 is significantly associated with the plateletcrit by using GWAS analysis in 164,339 european ancestry individuals(p-value = 1E-11 ;OR = 0.03162751). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001472 27863252 NONHSAT208980.1 rs1055348 G N/A 170,494 european ancestry individuals EFO_0007989 N/A Associate Monocyte percentage of white cells rs1055348-G of NONHSAT208980.1 is significantly associated with the monocyte percentage of white cells by using GWAS analysis in 170,494 european ancestry individuals(p-value = 3E-22 ;OR = 0.05609307). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002052 26634245 NONHSAT196125.1 rs78274021 T N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs78274021-T of NONHSAT196125.1 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 2E-6 ;OR = 0.27). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000000248 27863252 NONHSAT188919.1 rs6125961 A N/A 169,545 european ancestry individuals EFO_0007997 N/A Associate Granulocyte percentage of myeloid white cells rs6125961-A of NONHSAT188919.1 is significantly associated with the granulocyte percentage of myeloid white cells by using GWAS analysis in 169,545 european ancestry individuals(p-value = 8E-41 ;OR = 0.05991248). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000449 26632684 NONHSAT175276.1 rs2732614 T N/A 6,252 european ancestry individuals GO_0007608 N/A Associate Sense of smell rs2732614-T of NONHSAT175276.1 is significantly associated with the sense of smell by using GWAS analysis in 6,252 european ancestry individuals(p-value = 7E-6 ;OR = 0.03). 0.4 Genome-wide Meta-analysis on the Sense of Smell Among US Older Adults. NCRV0000000465 25056061 NONHSAT089960.2 rs2535627 T N/A 32,405 european ancestry cases//42,221 european ancestry controls//1,235 european ancestry cases and 1,235 european ancestry controls from 1235 parent-offspring trios//1,836 east asian ancestry cases//3,383 east asian ancestry controls; 1,513 european ancestry cases//66,236 european ancestry controls EFO_0000692 N/A Associate Schizophrenia rs2535627-T of NONHSAT089960.2 is significantly associated with the schizophrenia by using GWAS analysis in 32,405 european ancestry cases//42,221 european ancestry controls//1,235 european ancestry cases and 1,235 european ancestry controls from 1235 parent-offspring trios//1,836 east asian ancestry cases//3,383 east asian ancestry controls; 1,513 european ancestry cases//66,236 european ancestry controls(p-value = 4E-11 ;OR = 1.071). 0.4 Biological insights from 108 schizophrenia-associated genetic loci. NCRV0000001477 26634245 NONHSAT129674.2 rs7002002 A N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs7002002-A of NONHSAT129674.2 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 5E-6 ;OR = 0.044). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000000758 29228715 NONHSAT128590.2 rs12542260 ? N/A 855 austrian ancestry colonoscopy-negative controls//3,439 european ancestry controls NCIT_C16450 N/A Associate Colonoscopy-negative controls vs population controls rs12542260-? of NONHSAT128590.2 is significantly associated with the colonoscopy-negative controls vs population controls by using GWAS analysis in 855 austrian ancestry colonoscopy-negative controls//3,439 european ancestry controls(p-value = 5E-7 ;OR = 1.47). 0.4 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas. NCRV0000000627 27126917 NONHSAT199037.1 rs62324204 C N/A 941 european ancestry individuals EFO_0008568 N/A Associate Night sleep phenotypes rs62324204-C of NONHSAT199037.1 is significantly associated with the night sleep phenotypes by using GWAS analysis in 941 european ancestry individuals(p-value = 1E-6 ;OR = 0.4116). 0.4 Genome-wide association analysis of actigraphic sleep phenotypes in the LIFE Adult Study. NCRV0000002862 25608926 NONHSAT158258.1 rs10761660 T N/A 2,332 european ancestry cases and 5,233 european ancestry controls; 764 european ancestry cases and 2,256 european ancestry controls EFO_0004192 N/A Associate Alopecia areata rs10761660-T of NONHSAT158258.1 is significantly associated with the alopecia areata by using GWAS analysis in 2,332 european ancestry cases and 5,233 european ancestry controls; 764 european ancestry cases and 2,256 european ancestry controls(p-value = 9E-6 ;OR = 1.17234). 0.4 Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci. NCRV0000001031 27863252 NONHSAT221416.1 rs10901252 C N/A 173,039 european ancestry individuals EFO_0004348 N/A Associate Hematocrit rs10901252-C of NONHSAT221416.1 is significantly associated with the hematocrit by using GWAS analysis in 173,039 european ancestry individuals(p-value = 8E-15 ;OR = 0.0564596). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001367 21507922 NONHSAT173701.1 rs4968031 ? N/A 115 african ancestry hiv-negative individuals EFO_0004309 N/A Associate Platelet count rs4968031-? of NONHSAT173701.1 is significantly associated with the platelet count by using GWAS analysis in 115 african ancestry hiv-negative individuals(p-value = 1E-6 ;OR = ?). 0.4 Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women. NCRV0000002975 27863252 NONHSAT208858.1 rs6917586 A N/A 170,702 european ancestry individuals EFO_0004833 N/A Associate Neutrophil count rs6917586-A of NONHSAT208858.1 is significantly associated with the neutrophil count by using GWAS analysis in 170,702 european ancestry individuals(p-value = 3E-11 ;OR = 0.02485541). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003572 26545240 NONHSAT039800.2 rs1950626 G N/A 154 african american cases//948 african american controls//163 hispanic cases//305 hispanic controls EFO_0004710 N/A Associate Pelvic organ prolapse (moderate/severe) rs1950626-G of NONHSAT039800.2 is significantly associated with the pelvic organ prolapse (moderate/severe) by using GWAS analysis in 154 african american cases//948 african american controls//163 hispanic cases//305 hispanic controls(p-value = 3E-7 ;OR = 2.96). 0.4 Genetic Determinants of Pelvic Organ Prolapse among African American and Hispanic Women in the Women's Health Initiative. NCRV0000003801 28300201 NONHSAT046777.2 rs61310892 A N/A 285 puerto rican individuals; 373 african american individuals EFO_0003784 N/A Associate Skin pigmentation rs61310892-A of NONHSAT046777.2 is significantly associated with the skin pigmentation by using GWAS analysis in 285 puerto rican individuals; 373 african american individuals(p-value = 5E-6 ;OR = 10.02). 0.4 Identification of a novel locus associated with skin colour in African-admixed populations. NCRV0000000065 24509480 NONHSAT152910.1 rs2075423 G N/A 12,171 european ancestry cases//56,862 european ancestry controls//6,952 east asian ancestry cases//11,865 east asian ancestry controls//5,561 south asian ancestry cases//14,458 south asian ancestry controls//1,804 mexican ancestry cases//779 mexican ancestry controls; 21,491 european ancestry cases//55,647 european ancestry controls EFO_0001360 N/A Associate Type 2 diabetes rs2075423-G of NONHSAT152910.1 is significantly associated with the type 2 diabetes by using GWAS analysis in 12,171 european ancestry cases//56,862 european ancestry controls//6,952 east asian ancestry cases//11,865 east asian ancestry controls//5,561 south asian ancestry cases//14,458 south asian ancestry controls//1,804 mexican ancestry cases//779 mexican ancestry controls; 21,491 european ancestry cases//55,647 european ancestry controls(p-value = 2E-6 ;OR = 1.08). 0.4 Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. NCRV0000000261 26198764 NONHSAT181882.1 rs76503615 A N/A 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls EFO_0000692 N/A Associate Schizophrenia rs76503615-A of NONHSAT181882.1 is significantly associated with the schizophrenia by using GWAS analysis in 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls(p-value = 8E-6 ;OR = 1.11). 0.4 Genome-wide association study of schizophrenia in Ashkenazi Jews. NCRV0000001505 22396660 NONHSAT205084.1 rs11746443 ? N/A 904 japanese ancestry cases//7,471 japanese ancestry controls; 4,892 japanese ancestry cases//9,873 japanese ancestry controls EFO_0004253 N/A Associate Nephrolithiasis rs11746443-? of NONHSAT205084.1 is significantly associated with the nephrolithiasis by using GWAS analysis in 904 japanese ancestry cases//7,471 japanese ancestry controls; 4,892 japanese ancestry cases//9,873 japanese ancestry controls(p-value = 9E-12 ;OR = 1.19). 0.4 A genome-wide association study of nephrolithiasis in the Japanese population identifies novel susceptible Loci at 5q35.3, 7p14.3, and 13q14.1. NCRV0000000670 27680694 NONHSAT153479.1 rs2473248 C N/A 133,903 european ancestry individuals//6,635 african american individuals//420 turkish ancestry individuals//365 moroccan ancestry individuals//395 surinamese ancestry individuals//840 chinese ancestry individuals.; 9,799 european ancestry individuals//1,449 filipino ancestry individuals. EFO_0004344 N/A Associate Birth weight rs2473248-C of NONHSAT153479.1 is significantly associated with the birth weight by using GWAS analysis in 133,903 european ancestry individuals//6,635 african american individuals//420 turkish ancestry individuals//365 moroccan ancestry individuals//395 surinamese ancestry individuals//840 chinese ancestry individuals.; 9,799 european ancestry individuals//1,449 filipino ancestry individuals.(p-value = 1E-9 ;OR = 0.0331). 0.4 Genome-wide associations for birth weight and correlations with adult disease. NCRV0000002755 27225129 NONHSAT142467.2 rs11643654 A N/A 405,072 european ancestry individuals EFO_0004784 N/A Associate Educational attainment (years of education) rs11643654-A of NONHSAT142467.2 is significantly associated with the educational attainment (years of education) by using GWAS analysis in 405,072 european ancestry individuals(p-value = 2E-8 ;OR = 0.012901172). 0.4 Genome-wide association study identifies 74 loci associated with educational attainment. NCRV0000002534 28073927 NONHSAT022168.2 rs1346 T N/A 21,768 european ancestry individuals//2,131 erasmus rucphen (founder/genetic isolate) individuals; 8,168 asian ancestry individuals EFO_0006939 N/A Associate Vertical cup-disc ratio rs1346-T of NONHSAT022168.2 is significantly associated with the vertical cup-disc ratio by using GWAS analysis in 21,768 european ancestry individuals//2,131 erasmus rucphen (founder/genetic isolate) individuals; 8,168 asian ancestry individuals(p-value = 3E-17 ;OR = 0.014). 0.4 New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics. NCRV0000000647 21051598 NONHSAT108734.2 rs3131018 C N/A 516 european cases//1,196 european controls//341 african american cases//892 african american controls//117 hispanic cases//560 hispanic controls EFO_0000180 N/A Associate Hiv-1 control rs3131018-C of NONHSAT108734.2 is significantly associated with the hiv-1 control by using GWAS analysis in 516 european cases//1,196 european controls//341 african american cases//892 african american controls//117 hispanic cases//560 hispanic controls(p-value = 4E-16 ;OR = 2.1). 0.4 The major genetic determinants of HIV-1 control affect HLA class I peptide presentation. NCRV0000001968 25241909 NONHSAT198812.1 rs2869967 C N/A up to 1,662 european ancestry cases//up to 3,520 european ancestry smoker controls//182 african american cases//1,749 african american smoker controls EFO_0000341 N/A Associate Chronic bronchitis and chronic obstructive pulmonary disease rs2869967-C of NONHSAT198812.1 is significantly associated with the chronic bronchitis and chronic obstructive pulmonary disease by using GWAS analysis in up to 1,662 european ancestry cases//up to 3,520 european ancestry smoker controls//182 african american cases//1,749 african american smoker controls(p-value = 6E-10 ;OR = 1.38). 0.4 Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease. NCRV0000003272 24963161 NONHSAT151562.1 rs17103186 C N/A 3,178 chinese ancestry individuals//2,138 malay ancestry individuals//2,124 asian indian ancestry individuals; 2,473 chinese ancestry individuals//2,747 japanese ancestry individuals EFO_0004345 N/A Associate Corneal curvature rs17103186-C of NONHSAT151562.1 is significantly associated with the corneal curvature by using GWAS analysis in 3,178 chinese ancestry individuals//2,138 malay ancestry individuals//2,124 asian indian ancestry individuals; 2,473 chinese ancestry individuals//2,747 japanese ancestry individuals(p-value = 3E-12 ;OR = 0.11). 0.4 CMPK1 and RBP3 are associated with corneal curvature in Asian populations. NCRV0000003729 27863252 NONHSAT168300.1 rs34332679 GA N/A 171,771 european ancestry individuals EFO_0009389 N/A Associate Sum eosinophil basophil counts rs34332679-GA of NONHSAT168300.1 is significantly associated with the sum eosinophil basophil counts by using GWAS analysis in 171,771 european ancestry individuals(p-value = 1E-12 ;OR = 0.02673784). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001075 27863252 NONHSAT220008.1 rs12344280 A N/A 172,435 european ancestry individuals EFO_0004308 N/A Associate White blood cell count rs12344280-A of NONHSAT220008.1 is significantly associated with the white blood cell count by using GWAS analysis in 172,435 european ancestry individuals(p-value = 7E-13 ;OR = 0.03071569). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001335 27539887 NONHSAT108757.2 rs1050529 C N/A 12.945 european ancestry cases//274,252 european ancestry controls; 4,242 european ancestry cases//12,802 european ancestry controls EFO_0004193 N/A Associate Basal cell carcinoma rs1050529-C of NONHSAT108757.2 is significantly associated with the basal cell carcinoma by using GWAS analysis in 12.945 european ancestry cases//274,252 european ancestry controls; 4,242 european ancestry cases//12,802 european ancestry controls(p-value = 3E-9 ;OR = 1.11). 0.4 Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma. NCRV0000000445 28240269 NONHSAT216786.1 rs3947 A N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008072 N/A Associate Blood protein levels rs3947-A of NONHSAT216786.1 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 2E-27 ;OR = 0.5154). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. NCRV0000000619 24132900 NONHSAT189413.1 rs6081541 ? N/A 47 japanese ancestry cases//882 japanese ancestry controls EFO_0005407 N/A Associate Psychosis (atypical) rs6081541-? of NONHSAT189413.1 is significantly associated with the psychosis (atypical) by using GWAS analysis in 47 japanese ancestry cases//882 japanese ancestry controls(p-value = 1E-6 ;OR = ?). 0.4 Genome-wide association study of atypical psychosis. NCRV0000001907 26301688 NONHSAT142417.2 rs117372389 T N/A 97 european ancestry thyroiditis cases//107 european ancestry ankylosing spondylitis cases//100 european ancestry psoriasis cases//173 european ancestry celiac disease cases//254 european ancestry systemic lupus erythematosus cases//308 european ancestry common variable inmunodeficiency cases//865 european ancestry ulcerative colitis cases//1,086 european ancestry type 1 diabetes cases//1,123 european ancestry juvenile idiopathic arthritis cases//1,922 european ancestry crohn's disease cases//10,718 european ancestry controls EFO_0000540 N/A Associate Pediatric autoimmune diseases rs117372389-T of NONHSAT142417.2 is significantly associated with the pediatric autoimmune diseases by using GWAS analysis in 97 european ancestry thyroiditis cases//107 european ancestry ankylosing spondylitis cases//100 european ancestry psoriasis cases//173 european ancestry celiac disease cases//254 european ancestry systemic lupus erythematosus cases//308 european ancestry common variable inmunodeficiency cases//865 european ancestry ulcerative colitis cases//1,086 european ancestry type 1 diabetes cases//1,123 european ancestry juvenile idiopathic arthritis cases//1,922 european ancestry crohn's disease cases//10,718 european ancestry controls(p-value = 8E-11 ;OR = ?). 0.4 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases. NCRV0000001393 28991256 NONHSAT159668.1 rs2514218 C N/A 7,699 chinese ancestry cases//35,476 european ancestry cases//18,327 chinese ancestry controls//46,839 european ancestry controls; 4,384 chinese ancestry cases//5,770 chinese ancestry controls EFO_0000692 N/A Associate Schizophrenia rs2514218-C of NONHSAT159668.1 is significantly associated with the schizophrenia by using GWAS analysis in 7,699 chinese ancestry cases//35,476 european ancestry cases//18,327 chinese ancestry controls//46,839 european ancestry controls; 4,384 chinese ancestry cases//5,770 chinese ancestry controls(p-value = 5E-11 ;OR = 1.0775862). 0.4 Genome-wide association analysis identifies 30 new susceptibility loci for schizophrenia. NCRV0000003785 26634245 NONHSAT157338.1 rs142973438 A N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs142973438-A of NONHSAT157338.1 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 3E-6 ;OR = 0.049). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000002341 26634245 NONHSAT074560.2 rs78170588 A N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs78170588-A of NONHSAT074560.2 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 3E-6 ;OR = 0.096). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000000497 18604267 NONHSAT061043.2 rs5498 A N/A 4,570 european ancestry female individuals; 2,008 european ancestry female individuals HP_0001658 N/A Associate Soluble icam-1 rs5498-A of NONHSAT061043.2 is significantly associated with the soluble icam-1 by using GWAS analysis in 4,570 european ancestry female individuals; 2,008 european ancestry female individuals(p-value = 5E-25 ;OR = 13.22). 0.4 Novel association of ABO histo-blood group antigen with soluble ICAM-1: results of a genome-wide association study of 6,578 women. NCRV0000003793 24529757 NONHSAT186256.1 rs4234080 ? N/A 250 han chinese ancestry cases//250 han chinese ancestry controls EFO_0001357 N/A Associate Amyotrophic lateral sclerosis (sporadic) rs4234080-? of NONHSAT186256.1 is significantly associated with the amyotrophic lateral sclerosis (sporadic) by using GWAS analysis in 250 han chinese ancestry cases//250 han chinese ancestry controls(p-value = 2E-7 ;OR = ?). 0.4 Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations. NCRV0000001210 18372905 NONHSAT216396.1 rs6983267 ? N/A 922 european ancestry cases//927 european ancestry controls; 17,089 european ancestry cases//16,862 european ancestry controls//783 cases//664 controls EFO_0005842 N/A Associate Colorectal cancer rs6983267-? of NONHSAT216396.1 is significantly associated with the colorectal cancer by using GWAS analysis in 922 european ancestry cases//927 european ancestry controls; 17,089 european ancestry cases//16,862 european ancestry controls//783 cases//664 controls(p-value = 7E-11 ;OR = 1.24). 0.4 A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3. NCRV0000003558 28441456 NONHSAT177004.1 rs143314913 A N/A 2,187 european ancestry individuals EFO_0007841 N/A Associate Facial morphology (factor 16) rs143314913-A of NONHSAT177004.1 is significantly associated with the facial morphology (factor 16) by using GWAS analysis in 2,187 european ancestry individuals(p-value = 1E-6 ;OR = 0.5785). 0.4 Genome-wide association study of facial morphology reveals novel associations with FREM1 and PARK2. NCRV0000003249 21743057 NONHSAT216393.1 rs13252298 A N/A 2,782 european ancestry cases//4,458 european ancestry controls; 7,358 european ancestry cases//6,732 european ancestry controls EFO_0001663 N/A Associate Prostate cancer rs13252298-A of NONHSAT216393.1 is significantly associated with the prostate cancer by using GWAS analysis in 2,782 european ancestry cases//4,458 european ancestry controls; 7,358 european ancestry cases//6,732 european ancestry controls(p-value = 4E-6 ;OR = 1.12). 0.4 Genome-wide association study identifies new prostate cancer susceptibility loci. NCRV0000000043 28240269 NONHSAT183966.1 rs12475664 A N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008213 N/A Associate Blood protein levels rs12475664-A of NONHSAT183966.1 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 5E-16 ;OR = 0.3741). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. NCRV0000002583 23028341 NONHSAT207112.1 rs2075799 T N/A 1,999 han chinese ancestry male individuals; 1,496 han chinese ancestry male individuals EFO_0005741 N/A Associate Complement c3 and c4 levels rs2075799-T of NONHSAT207112.1 is significantly associated with the complement c3 and c4 levels by using GWAS analysis in 1,999 han chinese ancestry male individuals; 1,496 han chinese ancestry male individuals(p-value = 6E-97 ;OR = 0.17). 0.4 Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects. NCRV0000003962 26634245 NONHSAT171062.1 rs34225855 C N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs34225855-C of NONHSAT171062.1 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 6E-7 ;OR = 0.047). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000003621 27863252 NONHSAT197523.1 rs6782228 C N/A 170,721 european ancestry individuals EFO_0005091 N/A Associate Monocyte count rs6782228-C of NONHSAT197523.1 is significantly associated with the monocyte count by using GWAS analysis in 170,721 european ancestry individuals(p-value = 1E-103 ;OR = 0.08761663). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000664 18759275 NONHSAT167505.1 rs17065323 ? N/A 408 old order amish female individuals//460 old order amish male individuals; framingham heart study (sample size nr) EFO_0004761 N/A Associate Uric acid levels rs17065323-? of NONHSAT167505.1 is significantly associated with the uric acid levels by using GWAS analysis in 408 old order amish female individuals//460 old order amish male individuals; framingham heart study (sample size nr)(p-value = 4E-6 ;OR = 4.29). 0.4 Association of a common nonsynonymous variant in GLUT9 with serum uric acid levels in old order amish. NCRV0000003086 27863252 NONHSAT217919.1 rs1864585 G N/A 171,542 european ancestry individuals EFO_0007990 N/A Associate Neutrophil percentage of white cells rs1864585-G of NONHSAT217919.1 is significantly associated with the neutrophil percentage of white cells by using GWAS analysis in 171,542 european ancestry individuals(p-value = 8E-12 ;OR = 0.02791705). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003271 28270201 NONHSAT179793.1 rs7412 T N/A 19,259 british ancestry individuals from 6863 families. EFO_0000319 N/A Associate Cholesterol//total rs7412-T of NONHSAT179793.1 is significantly associated with the cholesterol//total by using GWAS analysis in 19,259 british ancestry individuals from 6863 families.(p-value = 5E-94 ;OR = 0.41957754). 0.4 Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants. NCRV0000001938 24962325 NONHSAT219278.1 rs10810935 A N/A 685 european ancestry cases//1,103 european ancestry controls from 118 families EFO_0003829 N/A Associate Alcohol dependence (age at onset) rs10810935-A of NONHSAT219278.1 is significantly associated with the alcohol dependence (age at onset) by using GWAS analysis in 685 european ancestry cases//1,103 european ancestry controls from 118 families(p-value = 2E-6 ;OR = 1.35). 0.4 Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families. NCRV0000002195 27863252 NONHSAT217919.1 rs1864585 G N/A 171,748 european ancestry individuals EFO_0007993 N/A Associate Lymphocyte percentage of white cells rs1864585-G of NONHSAT217919.1 is significantly associated with the lymphocyte percentage of white cells by using GWAS analysis in 171,748 european ancestry individuals(p-value = 5E-13 ;OR = 0.02946666). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001564 27863252 NONHSAT204572.1 rs79881201 T N/A 171,771 european ancestry individuals EFO_0009389 N/A Associate Sum eosinophil basophil counts rs79881201-T of NONHSAT204572.1 is significantly associated with the sum eosinophil basophil counts by using GWAS analysis in 171,771 european ancestry individuals(p-value = 1E-22 ;OR = 0.03636485). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002678 19303062 NONHSAT067101.2 rs602662 A N/A 2,934 european ancestry individuals; 686 european ancestry individuals EFO_0004620 N/A Associate Folate pathway vitamin levels rs602662-A of NONHSAT067101.2 is significantly associated with the folate pathway vitamin levels by using GWAS analysis in 2,934 european ancestry individuals; 686 european ancestry individuals(p-value = 3E-20 ;OR = 49.77). 0.4 Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations. NCRV0000002078 25673413 NONHSAT183488.1 rs715 C N/A up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals EFO_0001073 N/A Associate Body mass index rs715-C of NONHSAT183488.1 is significantly associated with the body mass index by using GWAS analysis in up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals(p-value = 4E-6 ;OR = 0.022). 0.4 Genetic studies of body mass index yield new insights for obesity biology. NCRV0000003005 26089329 NONHSAT151811.1 rs1937787 T N/A up to 1,592 african american cases//up to 13,154 african american controls EFO_0000712 N/A Associate Stroke rs1937787-T of NONHSAT151811.1 is significantly associated with the stroke by using GWAS analysis in up to 1,592 african american cases//up to 13,154 african american controls(p-value = 7E-7 ;OR = 0.27). 0.4 Meta-Analysis of Genome-Wide Association Studies Identifies Genetic Risk Factors for Stroke in African Americans. NCRV0000001217 28468790 NONHSAT215031.1 rs11766524 ? N/A up to 439 european ancestry trios EFO_0005938 N/A Associate Left ventricular obstructive tract defect (maternal effect) rs11766524-? of NONHSAT215031.1 is significantly associated with the left ventricular obstructive tract defect (maternal effect) by using GWAS analysis in up to 439 european ancestry trios(p-value = 7E-6 ;OR = 1.9189513). 0.4 Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects. NCRV0000001680 24386095 NONHSAT215498.1 rs328 G N/A 3,451 han chinese ancestry individuals; 8,830 han chinese ancestry individuals EFO_0000319 N/A Associate Lipid traits rs328-G of NONHSAT215498.1 is significantly associated with the lipid traits by using GWAS analysis in 3,451 han chinese ancestry individuals; 8,830 han chinese ancestry individuals(p-value = 3E-10 ;OR = 0.071). 0.4 A genome wide association study identifies common variants associated with lipid levels in the Chinese population. NCRV0000002575 27863252 NONHSAT221502.1 rs369457490 AAAAT N/A 171,643 european ancestry individuals EFO_0004587 N/A Associate Lymphocyte counts rs369457490-AAAAT of NONHSAT221502.1 is significantly associated with the lymphocyte counts by using GWAS analysis in 171,643 european ancestry individuals(p-value = 1E-20 ;OR = 0.03521166). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002391 23728906 NONHSAT173674.1 rs4780805 A N/A 2,278 european ancestry individuals EFO_0008568 N/A Associate Sleep duration rs4780805-A of NONHSAT173674.1 is significantly associated with the sleep duration by using GWAS analysis in 2,278 european ancestry individuals(p-value = 8E-7 ;OR = 0.19). 0.4 A genome-wide association study of sleep habits and insomnia. NCRV0000002415 28039263 NONHSAT070377.2 rs3179891 A N/A 511 european ancestry testicular cancer survivor individuals; 238 children EFO_0006951 N/A Associate Cisplatin-induced ototoxicity rs3179891-A of NONHSAT070377.2 is significantly associated with the cisplatin-induced ototoxicity by using GWAS analysis in 511 european ancestry testicular cancer survivor individuals; 238 children(p-value = 5E-7 ;OR = 5.026). 0.4 Variants in WFS1 and Other Mendelian Deafness Genes Are Associated with Cisplatin-Associated Ototoxicity. NCRV0000001513 28928442 NONHSAT178998.1 rs139082285 ? N/A 52,218 european ancestry cases//10,235 european ancestry controls EFO_0008412 N/A Associate Yeast infection rs139082285-? of NONHSAT178998.1 is significantly associated with the yeast infection by using GWAS analysis in 52,218 european ancestry cases//10,235 european ancestry controls(p-value = 6E-6 ;OR = 0.1433). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. NCRV0000003794 27182965 NONHSAT097116.2 rs13129838 ? N/A 106,086 european ancestry cases//85,757 european ancestry controls HP_0000545 N/A Associate Myopia rs13129838-? of NONHSAT097116.2 is significantly associated with the myopia by using GWAS analysis in 106,086 european ancestry cases//85,757 european ancestry controls(p-value = 3E-15 ;OR = 1.068). 0.4 Detection and interpretation of shared genetic influences on 42 human traits. NCRV0000001507 26192919 NONHSAT067101.2 rs516246 A N/A 5,956 european ancestry cases//14,927 european ancestry controls; 14,594 european ancestry cases//26,715 european ancestry controls//151 iranian ancestry cases//342 iranian ancestry controls//184 indian ancestry cases//990 indian ancestry controls//1,690 east asian ancestry cases//3,719 east asian ancestry controls EFO_0000384 N/A Associate Crohn's disease rs516246-A of NONHSAT067101.2 is significantly associated with the crohn's disease by using GWAS analysis in 5,956 european ancestry cases//14,927 european ancestry controls; 14,594 european ancestry cases//26,715 european ancestry controls//151 iranian ancestry cases//342 iranian ancestry controls//184 indian ancestry cases//990 indian ancestry controls//1,690 east asian ancestry cases//3,719 east asian ancestry controls(p-value = 1E-20 ;OR = 1.1213977). 0.4 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. NCRV0000001094 28199695 NONHSAT222067.1 rs10761256 G N/A 69,057 european ancestry individuals without immune related conditions EFO_0008377 N/A Associate Itch intensity from mosquito bite adjusted by bite size rs10761256-G of NONHSAT222067.1 is significantly associated with the itch intensity from mosquito bite adjusted by bite size by using GWAS analysis in 69,057 european ancestry individuals without immune related conditions(p-value = 2E-6 ;OR = 0.0181507). 0.4 GWAS of self-reported mosquito bite size, itch intensity and attractiveness to mosquitoes implicates immune-related predisposition loci. NCRV0000000032 20400778 NONHSAT164273.1 rs7965445 A N/A 1,645 european ancestry cases//881 european ancestry controls//281 african ancestry cases//185 african ancestry controls EFO_0003144 N/A Associate Mortality in heart failure rs7965445-A of NONHSAT164273.1 is significantly associated with the mortality in heart failure by using GWAS analysis in 1,645 european ancestry cases//881 european ancestry controls//281 african ancestry cases//185 african ancestry controls(p-value = 2E-6 ;OR = 1.3). 0.4 Genomic variation associated with mortality among adults of European and African ancestry with heart failure: the cohorts for heart and aging research in genomic epidemiology consortium. NCRV0000002180 28240269 NONHSAT210088.1 rs3763267 C N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008299 N/A Associate Blood protein levels rs3763267-C of NONHSAT210088.1 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 9E-19 ;OR = 0.6074). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. NCRV0000003972 26198764 NONHSAT004731.2 rs2660304 T N/A 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls EFO_0000692 N/A Associate Schizophrenia rs2660304-T of NONHSAT004731.2 is significantly associated with the schizophrenia by using GWAS analysis in 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls(p-value = 1E-17 ;OR = 1.12). 0.4 Genome-wide association study of schizophrenia in Ashkenazi Jews. NCRV0000000349 21177773 NONHSAT149995.1 rs1532815 ? N/A 60 european ancestry lymphoblastoid cell lines//56 african american lymphoblastoid cell lines//60 han chinese american lymphoblastoid cell lines GO_1901554 N/A Associate Response to acetaminophen (hepatotoxicity) rs1532815-? of NONHSAT149995.1 is significantly associated with the response to acetaminophen (hepatotoxicity) by using GWAS analysis in 60 european ancestry lymphoblastoid cell lines//56 african american lymphoblastoid cell lines//60 han chinese american lymphoblastoid cell lines(p-value = 6E-7 ;OR = ?). 0.4 Acetaminophen-NAPQI hepatotoxicity: a cell line model system genome-wide association study. NCRV0000000017 26151821 NONHSAT168447.1 rs4444235 C N/A 18,299 european ancestry cases//19,656 european ancestry controls; 4,725 east asian ancestry cases//9,969 east asian ancestry controls EFO_0005842 N/A Associate Colorectal cancer rs4444235-C of NONHSAT168447.1 is significantly associated with the colorectal cancer by using GWAS analysis in 18,299 european ancestry cases//19,656 european ancestry controls; 4,725 east asian ancestry cases//9,969 east asian ancestry controls(p-value = 5E-8 ;OR = 1.0869565). 0.4 Genome-wide association study of colorectal cancer identifies six new susceptibility loci. NCRV0000000594 27089181 NONHSAT165104.1 rs1961982 A N/A 105,739 european ancestry individuals//16,471 european ancestry major depressive disorder cases//58,835 european ancestry controls; 368,890 european ancestry individuals EFO_0003761 N/A Associate Depression rs1961982-A of NONHSAT165104.1 is significantly associated with the depression by using GWAS analysis in 105,739 european ancestry individuals//16,471 european ancestry major depressive disorder cases//58,835 european ancestry controls; 368,890 european ancestry individuals(p-value = 7E-7 ;OR = 4.971417). 0.4 Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses. NCRV0000003770 28199695 NONHSAT189946.1 rs60922440 T N/A 16,576 european ancestry individuals EFO_0008380 N/A Associate Perceived unattractiveness to mosquitoes rs60922440-T of NONHSAT189946.1 is significantly associated with the perceived unattractiveness to mosquitoes by using GWAS analysis in 16,576 european ancestry individuals(p-value = 9E-6 ;OR = 0.120169). 0.4 GWAS of self-reported mosquito bite size, itch intensity and attractiveness to mosquitoes implicates immune-related predisposition loci. NCRV0000002838 26219847 NONHSAT083312.2 rs11914070 T N/A 2,946 individuals EFO_0007680 N/A Associate Gait variability rs11914070-T of NONHSAT083312.2 is significantly associated with the gait variability by using GWAS analysis in 2,946 individuals(p-value = 2E-7 ;OR = 0.136). 0.4 Heritability and Genome-Wide Association Analyses of Human Gait Suggest Contribution of Common Variants. NCRV0000000446 28642124 NONHSAT161002.1 rs3889139 ? N/A 1,989 european and unknown ancestry mutation carriers Orphanet_399 N/A Associate Huntington's disease progression rs3889139-? of NONHSAT161002.1 is significantly associated with the huntington's disease progression by using GWAS analysis in 1,989 european and unknown ancestry mutation carriers(p-value = 2E-6 ;OR = 2.795). 0.4 Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study. NCRV0000003426 21139019 NONHSAT103660.2 rs10089 ? N/A 239 european ancestry cases//107 european ancestry controls EFO_0004243 N/A Associate Ileal carcinoids rs10089-? of NONHSAT103660.2 is significantly associated with the ileal carcinoids by using GWAS analysis in 239 european ancestry cases//107 european ancestry controls(p-value = 2E-6 ;OR = 2.56). 0.4 A pilot genome-wide association study shows genomic variants enriched in the non-tumor cells of patients with well-differentiated neuroendocrine tumors of the ileum. NCRV0000000256 24528284 NONHSAT087008.2 rs1058172 ? N/A 300 european ancestry escitalpram treated individuals//130 european ancestry citalopram treated individuals EFO_0003761 serotonin reuptake inhibitors Associate Response to serotonin reuptake inhibitors in major depressive disorder (plasma drug and metabolite levels) rs1058172-? of NONHSAT087008.2 is significantly associated with the response to serotonin reuptake inhibitors in major depressive disorder (plasma drug and metabolite levels) by using GWAS analysis in 300 european ancestry escitalpram treated individuals//130 european ancestry citalopram treated individuals(p-value = 2E-16 ;OR = ?). 0.4 Citalopram and escitalopram plasma drug and metabolite concentrations: genome-wide associations. NCRV0000000057 28135244 NONHSAT081029.2 rs8126001 T N/A 140,886 european ancestry individuals; 190,318 european ancestry individuals EFO_0005763 N/A Associate Pulse pressure rs8126001-T of NONHSAT081029.2 is significantly associated with the pulse pressure by using GWAS analysis in 140,886 european ancestry individuals; 190,318 european ancestry individuals(p-value = 1E-7 ;OR = 0.1786). 0.4 Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk. NCRV0000002640 26394269 NONHSAT200243.1 rs1054037 T N/A 2,764 european ancestry cases//10,475 european ancestry controls; 3,716 european ancestry cases// 4,261 european ancestry controls EFO_1001486 N/A Associate Primary biliary cholangitis rs1054037-T of NONHSAT200243.1 is significantly associated with the primary biliary cholangitis by using GWAS analysis in 2,764 european ancestry cases//10,475 european ancestry controls; 3,716 european ancestry cases// 4,261 european ancestry controls(p-value = 8E-10 ;OR = 1.22). 0.4 International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways. NCRV0000002554 26053186 NONHSAT166667.1 rs1323612 ? N/A 362 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//438 european ancestry current smoker individuals//449 latino current smoker individuals//704 japanese ancestry current smoker individuals EFO_0001071 in smokers Associate 3-hydroxypropylmercapturic acid levels in smokers rs1323612-? of NONHSAT166667.1 is significantly associated with the 3-hydroxypropylmercapturic acid levels in smokers by using GWAS analysis in 362 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//438 european ancestry current smoker individuals//449 latino current smoker individuals//704 japanese ancestry current smoker individuals(p-value = 5E-6 ;OR = 0.6004). 0.4 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. NCRV0000001732 24322204 NONHSAT211006.1 rs62421103 ? N/A 388 european ancestry cases//1,020 european ancestry controls EFO_0000289 N/A Associate Bipolar disorder (body mass index interaction) rs62421103-? of NONHSAT211006.1 is significantly associated with the bipolar disorder (body mass index interaction) by using GWAS analysis in 388 european ancestry cases//1,020 european ancestry controls(p-value = 4E-6 ;OR = ?). 0.4 Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2. NCRV0000001233 23218918 NONHSAT180215.1 rs875622 ? N/A 70 unaffected relatives of cases with bipolar disorder//80 controls EFO_0000289 N/A Associate White matter integrity rs875622-? of NONHSAT180215.1 is significantly associated with the white matter integrity by using GWAS analysis in 70 unaffected relatives of cases with bipolar disorder//80 controls(p-value = 4E-6 ;OR = ?). 0.4 White matter integrity as an intermediate phenotype: exploratory genome-wide association analysis in individuals at high risk of bipolar disorder. NCRV0000000958 26956414 NONHSAT157304.1 rs4406737 G N/A 3,100 european ancestry cases//7,667 european ancestry controls; 1,958 cases// 5,530 controls EFO_0000095 N/A Associate Chronic lymphocytic leukemia rs4406737-G of NONHSAT157304.1 is significantly associated with the chronic lymphocytic leukemia by using GWAS analysis in 3,100 european ancestry cases//7,667 european ancestry controls; 1,958 cases// 5,530 controls(p-value = 9E-14 ;OR = 1.27). 0.4 Meta-analysis of genome-wide association studies discovers multiple loci for chronic lymphocytic leukemia. NCRV0000002467 24816252 NONHSAT211718.1 rs6968554 A N/A 7,824 european ancestry individuals EFO_0005664 N/A Associate Blood metabolite levels rs6968554-A of NONHSAT211718.1 is significantly associated with the blood metabolite levels by using GWAS analysis in 7,824 european ancestry individuals(p-value = 9E-14 ;OR = 0.064). 0.4 An atlas of genetic influences on human blood metabolites. NCRV0000002230 25751625 NONHSAT164418.1 rs12422552 C N/A 15,748 european ancestry cases//18,084 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls EFO_0000305 N/A Associate Breast cancer rs12422552-C of NONHSAT164418.1 is significantly associated with the breast cancer by using GWAS analysis in 15,748 european ancestry cases//18,084 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls(p-value = 1E-7 ;OR = 1.04). 0.4 Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer. NCRV0000001135 26818947 NONHSAT017523.2 rs117601636 A N/A 15,463 japanese ancestry cases//26,183 japanese ancestry controls; 20,490 east asian ancestry cases//22,922 east asian ancestry controls//38,947 european ancestry cases//121,903 european ancestry controls//10,587 south asian ancestry cases//14,378 south asian ancestry controls//3,848 mexican/latino cases//4,366 mexican/latino controls EFO_0001360 N/A Associate Type 2 diabetes rs117601636-A of NONHSAT017523.2 is significantly associated with the type 2 diabetes by using GWAS analysis in 15,463 japanese ancestry cases//26,183 japanese ancestry controls; 20,490 east asian ancestry cases//22,922 east asian ancestry controls//38,947 european ancestry cases//121,903 european ancestry controls//10,587 south asian ancestry cases//14,378 south asian ancestry controls//3,848 mexican/latino cases//4,366 mexican/latino controls(p-value = 1E-7 ;OR = 1.15959). 0.4 Genome-wide association studies in the Japanese population identify seven novel loci for type 2 diabetes. NCRV0000001379 21471979 NONHSAT165404.1 rs7097 ? N/A 74 japanese ancestry cases//934 japanese ancestry controls; 325 japanese ancestry cases//3,309 japanese ancestry controls EFO_0000403 N/A Associate Large b-cell lymphoma rs7097-? of NONHSAT165404.1 is significantly associated with the large b-cell lymphoma by using GWAS analysis in 74 japanese ancestry cases//934 japanese ancestry controls; 325 japanese ancestry cases//3,309 japanese ancestry controls(p-value = 7E-6 ;OR = 1.44). 0.4 Common variants on 14q32 and 13q12 are associated with DLBCL susceptibility. NCRV0000001146 18084291 NONHSAT170858.1 rs3825776 ? N/A 737 european ancestry cases//721 european ancestry controls; 1,030 european ancestry cases//1,195 european ancestry controls EFO_0000253 N/A Associate Amyotrophic lateral sclerosis rs3825776-? of NONHSAT170858.1 is significantly associated with the amyotrophic lateral sclerosis by using GWAS analysis in 737 european ancestry cases//721 european ancestry controls; 1,030 european ancestry cases//1,195 european ancestry controls(p-value = 9E-6 ;OR = 1.34). 0.4 Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis. NCRV0000001062 27863252 NONHSAT164108.1 rs34734847 C N/A 172,433 european ancestry individuals EFO_0004526 N/A Associate Mean corpuscular volume rs34734847-C of NONHSAT164108.1 is significantly associated with the mean corpuscular volume by using GWAS analysis in 172,433 european ancestry individuals(p-value = 6E-45 ;OR = 0.05085544). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003816 29059683 NONHSAT036863.2 rs35072154 T N/A 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls EFO_0000305 N/A Associate Breast cancer rs35072154-T of NONHSAT036863.2 is significantly associated with the breast cancer by using GWAS analysis in 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls(p-value = 3E-6 ;OR = 0.0301). 0.4 Association analysis identifies 65 new breast cancer risk loci. NCRV0000000147 23118916 NONHSAT174827.1 rs11552708 G N/A 1,999 han chinese ancestry individuals; 1,496 east asian ancestry individuals EFO_0004993 N/A Associate Igm levels rs11552708-G of NONHSAT174827.1 is significantly associated with the igm levels by using GWAS analysis in 1,999 han chinese ancestry individuals; 1,496 east asian ancestry individuals(p-value = 4E-9 ;OR = ?). 0.4 Genome-wide scan identifies variant in TNFSF13 associated with serum IgM in a healthy Chinese male population. NCRV0000001909 28608620 NONHSAT214348.1 rs10499395 G N/A 4,097 european ancestry individuals EFO_0008329 N/A Associate Facial emotion recognition (angry faces) rs10499395-G of NONHSAT214348.1 is significantly associated with the facial emotion recognition (angry faces) by using GWAS analysis in 4,097 european ancestry individuals(p-value = 2E-6 ;OR = 4.76). 0.4 Genome-wide association study of facial emotion recognition in children and association with polygenic risk for mental health disorders. NCRV0000000713 24700089 NONHSAT152445.1 rs12068654 T N/A 226 japanese ancestry cases//186 japanese ancestry controls EFO_0000249 N/A Associate Cervical cancer rs12068654-T of NONHSAT152445.1 is significantly associated with the cervical cancer by using GWAS analysis in 226 japanese ancestry cases//186 japanese ancestry controls(p-value = 5E-6 ;OR = 3.23). 0.4 Genome-wide association study of HPV-associated cervical cancer in Japanese women. NCRV0000003184 27989323 NONHSAT157895.1 rs1149926 C N/A 3,682 finnish ancestry individuals EFO_0005140 N/A Associate Stem cell growth factor beta levels rs1149926-C of NONHSAT157895.1 is significantly associated with the stem cell growth factor beta levels by using GWAS analysis in 3,682 finnish ancestry individuals(p-value = 7E-6 ;OR = 0.3378). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. NCRV0000002122 28448500 NONHSAT168677.1 rs7141420 ? N/A 2,518 african american women//86,278 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//55,137 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men EFO_0001073 joint analysis main effects and physical activity interaction Associate Body mass index (joint analysis main effects and physical activity interaction) rs7141420-? of NONHSAT168677.1 is significantly associated with the body mass index (joint analysis main effects and physical activity interaction) by using GWAS analysis in 2,518 african american women//86,278 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//55,137 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men(p-value = 2E-11 ;OR = ?). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. NCRV0000001060 28448500 NONHSAT210400.1 rs615672 G N/A 2,518 african american women//85,730 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//54,792 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men EFO_0007789 joint analysis main effects and physical activity interaction Associate Waist circumference adjusted for bmi in active individuals rs615672-G of NONHSAT210400.1 is significantly associated with the waist circumference adjusted for bmi in active individuals by using GWAS analysis in 2,518 african american women//85,730 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//54,792 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men(p-value = 1E-6 ;OR = 0.0235). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. NCRV0000002023 20100581 NONHSAT179793.1 rs429358 ? N/A 175 european ancestry alzheimer cases//354 european ancestry amnestic mild cognitive impairment cases//204 european ancestry controls EFO_0004346 N/A Associate Brain imaging rs429358-? of NONHSAT179793.1 is significantly associated with the brain imaging by using GWAS analysis in 175 european ancestry alzheimer cases//354 european ancestry amnestic mild cognitive impairment cases//204 european ancestry controls(p-value = 1E-7 ;OR = ?). 0.4 Whole genome association study of brain-wide imaging phenotypes for identifying quantitative trait loci in MCI and AD: A study of the ADNI cohort. NCRV0000003691 26830138 NONHSAT175466.1 rs34111070 T N/A 2,478 european ancestry cases//979 ancestry controls both from the same 1,070 families EFO_0000249 N/A Associate Alzheimer disease and age of onset rs34111070-T of NONHSAT175466.1 is significantly associated with the alzheimer disease and age of onset by using GWAS analysis in 2,478 european ancestry cases//979 ancestry controls both from the same 1,070 families(p-value = 1E-6 ;OR = 4.892). 0.4 Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3. NCRV0000003627 28232668 NONHSAT028740.2 rs705704 A N/A 2,033 han chinese ancestry cases//4,051 han chinese ancestry controls; 1,346 han chinese ancestry cases//4,542 han chinese ancestry controls EFO_0003959 N/A Associate Nonsyndromic cleft lip with cleft palate rs705704-A of NONHSAT028740.2 is significantly associated with the nonsyndromic cleft lip with cleft palate by using GWAS analysis in 2,033 han chinese ancestry cases//4,051 han chinese ancestry controls; 1,346 han chinese ancestry cases//4,542 han chinese ancestry controls(p-value = 1E-9 ;OR = 1.22). 0.4 Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity. NCRV0000003501 22354554 NONHSAT013600.2 rs6479891 T N/A 814 european ancestry cases//658 european ancestry controls//2,400 controls; 1,744 european ancestry cases//7,010 european ancestry controls EFO_0002609 N/A Associate Arthritis (juvenile idiopathic) rs6479891-T of NONHSAT013600.2 is significantly associated with the arthritis (juvenile idiopathic) by using GWAS analysis in 814 european ancestry cases//658 european ancestry controls//2,400 controls; 1,744 european ancestry cases//7,010 european ancestry controls(p-value = 2E-7 ;OR = 1.19). 0.4 Genome-wide association analysis of juvenile idiopathic arthritis identifies a new susceptibility locus at chromosomal region 3q13. NCRV0000000476 27399966 NONHSAT090131.2 rs9311676 ? N/A 1,659 chinese ancestry cases//3,398 chinese ancestry controls//4,036 european ancestry cases//6,959 european ancestry controls; 3,043 chinese ancestry cases//5,074 chinese ancestry controls//2,643 european ancestry cases//9,032 european ancestry controls EFO_0002690 N/A Associate Systemic lupus erythematosus rs9311676-? of NONHSAT090131.2 is significantly associated with the systemic lupus erythematosus by using GWAS analysis in 1,659 chinese ancestry cases//3,398 chinese ancestry controls//4,036 european ancestry cases//6,959 european ancestry controls; 3,043 chinese ancestry cases//5,074 chinese ancestry controls//2,643 european ancestry cases//9,032 european ancestry controls(p-value = 5E-6 ;OR = 1.14). 0.4 Genome-wide association meta-analysis in Chinese and European individuals identifies ten new loci associated with systemic lupus erythematosus. NCRV0000000420 20463881 NONHSAT176666.1 rs9894429 T N/A 5,951 european ancestry individuals; 3,543 european ancestry individuals EFO_0003949 N/A Associate Eye color traits rs9894429-T of NONHSAT176666.1 is significantly associated with the eye color traits by using GWAS analysis in 5,951 european ancestry individuals; 3,543 european ancestry individuals(p-value = 9E-14 ;OR = 0.12). 0.4 Digital quantification of human eye color highlights genetic association of three new loci. NCRV0000000198 27989323 NONHSAT180817.1 rs28637706 G N/A 3,531 finnish ancestry individuals EFO_0005140 N/A Associate Beta-nerve growth factor levels rs28637706-G of NONHSAT180817.1 is significantly associated with the beta-nerve growth factor levels by using GWAS analysis in 3,531 finnish ancestry individuals(p-value = 1E-9 ;OR = 0.1589). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. NCRV0000002034 27863252 NONHSAT197522.1 rs11359909 A N/A 172,435 european ancestry individuals EFO_0004308 N/A Associate White blood cell count rs11359909-A of NONHSAT197522.1 is significantly associated with the white blood cell count by using GWAS analysis in 172,435 european ancestry individuals(p-value = 1E-13 ;OR = 0.04348204). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002988 28928442 NONHSAT205713.1 rs62366894 ? N/A 46,936 european ancestry cases//74,874 european ancestry controls EFO_0007904 N/A Associate Childhood ear infection rs62366894-? of NONHSAT205713.1 is significantly associated with the childhood ear infection by using GWAS analysis in 46,936 european ancestry cases//74,874 european ancestry controls(p-value = 3E-7 ;OR = 0.0588). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. NCRV0000002392 21378990 NONHSAT208057.1 rs12190287 C N/A 22,233 european ancestry cases//64,762 european ancestry controls; 56,682 european ancestry cases and controls EFO_0001645 N/A Associate Coronary heart disease rs12190287-C of NONHSAT208057.1 is significantly associated with the coronary heart disease by using GWAS analysis in 22,233 european ancestry cases//64,762 european ancestry controls; 56,682 european ancestry cases and controls(p-value = 1E-12 ;OR = 1.08). 0.4 Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. NCRV0000000216 23382691 NONHSAT127168.2 rs13272623 G N/A 2,247 european ancestry individuals EFO_0002690 N/A Associate Igg glycosylation rs13272623-G of NONHSAT127168.2 is significantly associated with the igg glycosylation by using GWAS analysis in 2,247 european ancestry individuals(p-value = 2E-6 ;OR = 0.2155). 0.4 Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. NCRV0000002123 27089181 NONHSAT221237.1 rs2149351 T N/A 170,911 european ancestry individuals EFO_0007660 N/A Associate Neuroticism rs2149351-T of NONHSAT221237.1 is significantly associated with the neuroticism by using GWAS analysis in 170,911 european ancestry individuals(p-value = 4E-6 ;OR = 0.018736271). 0.4 Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses. NCRV0000002945 24816252 NONHSAT220244.1 rs7849270 A N/A up to 5,591 european ancestry individuals; up to 1,767 european ancestry individuals EFO_0005664 N/A Associate Blood metabolite ratios rs7849270-A of NONHSAT220244.1 is significantly associated with the blood metabolite ratios by using GWAS analysis in up to 5,591 european ancestry individuals; up to 1,767 european ancestry individuals(p-value = 3E-21 ;OR = 0.025). 0.4 An atlas of genetic influences on human blood metabolites. NCRV0000003653 27082954 NONHSAT221158.1 rs10979314 ? N/A 104 european ancestry cases//1,519 european ancestry controls//34 african american cases//520 african american controls EFO_0004265 traffic-related air pollution interaction Associate Peripheral arterial disease (traffic-related air pollution interaction) rs10979314-? of NONHSAT221158.1 is significantly associated with the peripheral arterial disease (traffic-related air pollution interaction) by using GWAS analysis in 104 european ancestry cases//1,519 european ancestry controls//34 african american cases//520 african american controls(p-value = 1E-8 ;OR = 347.3). 0.4 Genetic Variants in the Bone Morphogenic Protein Gene Family Modify the Association between Residential Exposure to Traffic and Peripheral Arterial Disease. NCRV0000001103 28346442 NONHSAT183139.1 rs6755777 T N/A 2,566 european ancestry cases//40,941 european ancestry controls EFO_0006462 N/A Associate Mucinous ovarian carcinoma rs6755777-T of NONHSAT183139.1 is significantly associated with the mucinous ovarian carcinoma by using GWAS analysis in 2,566 european ancestry cases//40,941 european ancestry controls(p-value = 1E-13 ;OR = 1.2623247). 0.4 Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer. NCRV0000002282 25188341 NONHSAT099224.2 rs6835098 T N/A up to 3,887 cases//up to 1,027 controls EFO_0006801 N/A Associate Dementia and core alzheimer's disease neuropathologic changes rs6835098-T of NONHSAT099224.2 is significantly associated with the dementia and core alzheimer's disease neuropathologic changes by using GWAS analysis in up to 3,887 cases//up to 1,027 controls(p-value = 5E-6 ;OR = 0.2278). 0.4 Genome-wide association meta-analysis of neuropathologic features of Alzheimer's disease and related dementias. NCRV0000002409 28240269 NONHSAT152520.1 rs6136 G N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008254 N/A Associate Blood protein levels rs6136-G of NONHSAT152520.1 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 1E-25 ;OR = 0.7683). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. NCRV0000000872 24816252 NONHSAT161941.1 rs4149056 T N/A up to 5,591 european ancestry individuals; up to 1,767 european ancestry individuals EFO_0005664 N/A Associate Blood metabolite levels rs4149056-T of NONHSAT161941.1 is significantly associated with the blood metabolite levels by using GWAS analysis in up to 5,591 european ancestry individuals; up to 1,767 european ancestry individuals(p-value = 6E-315 ;OR = 0.295). 0.4 An atlas of genetic influences on human blood metabolites. NCRV0000003499 27863252 NONHSAT076891.2 rs55799208 A N/A 172,435 european ancestry individuals EFO_0004308 N/A Associate White blood cell count rs55799208-A of NONHSAT076891.2 is significantly associated with the white blood cell count by using GWAS analysis in 172,435 european ancestry individuals(p-value = 6E-32 ;OR = 0.4224498). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003030 26962152 NONHSAT172742.1 rs1156327 ? N/A 394 european american individuals with periodontal health//389 european american individuals with mild-moderate periodontitis//192 european american individuals with severe periodontitis EFO_0000649 N/A Associate Periodontal disease-related phenotypes rs1156327-? of NONHSAT172742.1 is significantly associated with the periodontal disease-related phenotypes by using GWAS analysis in 394 european american individuals with periodontal health//389 european american individuals with mild-moderate periodontitis//192 european american individuals with severe periodontitis(p-value = 3E-10 ;OR = 1.45). 0.4 Genome-wide association study of biologically informed periodontal complex traits offers novel insights into the genetic basis of periodontal disease. NCRV0000001982 26708676 NONHSAT154060.1 rs12122341 G N/A up to 2,349 european ancestry cases//up to 220 african ancestry cases//up to 146 hispanic cases//26,690 european ancestry controls//3,354 african ancestry controls//2,429 hispanic controls; 33 african ancestry cases//34 east asian ancestry cases//1,787 european ancestry cases//40 hispanic ancestry cases//355 south asian ancestry cases//239 african ancestry controls//329 east asian ancestry controls//176,782 european ancestry controls//686 hispanic controls//5,193 south asian ancestry controls HP_0002140 N/A Associate Ischemic stroke (large artery atherosclerosis) rs12122341-G of NONHSAT154060.1 is significantly associated with the ischemic stroke (large artery atherosclerosis) by using GWAS analysis in up to 2,349 european ancestry cases//up to 220 african ancestry cases//up to 146 hispanic cases//26,690 european ancestry controls//3,354 african ancestry controls//2,429 hispanic controls; 33 african ancestry cases//34 east asian ancestry cases//1,787 european ancestry cases//40 hispanic ancestry cases//355 south asian ancestry cases//239 african ancestry controls//329 east asian ancestry controls//176,782 european ancestry controls//686 hispanic controls//5,193 south asian ancestry controls(p-value = 1E-9 ;OR = 1.19). 0.4 Loci associated with ischaemic stroke and its subtypes (SiGN): a genome-wide association study. NCRV0000001917 28232668 NONHSAT205669.1 rs10462065 A N/A 2,033 han chinese ancestry cases//4,051 han chinese ancestry controls; 1,346 han chinese ancestry cases//4,542 han chinese ancestry controls EFO_0003959 N/A Associate Nonsyndromic cleft lip with cleft palate rs10462065-A of NONHSAT205669.1 is significantly associated with the nonsyndromic cleft lip with cleft palate by using GWAS analysis in 2,033 han chinese ancestry cases//4,051 han chinese ancestry controls; 1,346 han chinese ancestry cases//4,542 han chinese ancestry controls(p-value = 1E-8 ;OR = 1.22). 0.4 Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity. NCRV0000003176 28928442 NONHSAT174966.1 rs11658309 ? N/A 52,487 european ancestry cases//22,017 european ancestry controls EFO_0008408 N/A Associate Strep throat rs11658309-? of NONHSAT174966.1 is significantly associated with the strep throat by using GWAS analysis in 52,487 european ancestry cases//22,017 european ancestry controls(p-value = 5E-7 ;OR = 0.0286). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. NCRV0000000683 22080838 NONHSAT066419.2 rs7937 ? N/A 3,499 european ancestry cases//1,922 european ancestry controls; 983 cases//1,876 sibling controls EFO_0000341 N/A Associate Chronic obstructive pulmonary disease rs7937-? of NONHSAT066419.2 is significantly associated with the chronic obstructive pulmonary disease by using GWAS analysis in 3,499 european ancestry cases//1,922 european ancestry controls; 983 cases//1,876 sibling controls(p-value = 3E-9 ;OR = 1.37). 0.4 A genome-wide association study of COPD identifies a susceptibility locus on chromosome 19q13. NCRV0000000683 28166215 NONHSAT066419.2 rs7937 T N/A 11,157 european ancestry cases//36,699 european ancestry controls//1,142 african american cases//2,380 african american controls//199 korean ancestry cases//6,741 korean ancestry controls//52 hispanic cases//548 hispanic controls.; 12,051 european ancestry cases//11,111 european ancestry controls//153 korean ancestry cases//205 korean ancestry controls. EFO_0000341 N/A Associate Chronic obstructive pulmonary disease rs7937-T of NONHSAT066419.2 is significantly associated with the chronic obstructive pulmonary disease by using GWAS analysis in 11,157 european ancestry cases//36,699 european ancestry controls//1,142 african american cases//2,380 african american controls//199 korean ancestry cases//6,741 korean ancestry controls//52 hispanic cases//548 hispanic controls.; 12,051 european ancestry cases//11,111 european ancestry controls//153 korean ancestry cases//205 korean ancestry controls.(p-value = 6E-8 ;OR = 1.06). 0.4 Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis. NCRV0000003709 27992413 NONHSAT067101.2 rs681343 T N/A 2,871 european ancestry cases//12,019 european ancestry controls; 1,925 european ancestry cases//7,936 european ancestry controls EFO_0004268 N/A Associate Primary sclerosing cholangitis rs681343-T of NONHSAT067101.2 is significantly associated with the primary sclerosing cholangitis by using GWAS analysis in 2,871 european ancestry cases//12,019 european ancestry controls; 1,925 european ancestry cases//7,936 european ancestry controls(p-value = 3E-6 ;OR = 1.11). 0.4 Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease. NCRV0000002197 28441456 NONHSAT176706.1 rs139142374 T N/A 2,187 european ancestry individuals EFO_0007841 N/A Associate Facial morphology (factor 23) rs139142374-T of NONHSAT176706.1 is significantly associated with the facial morphology (factor 23) by using GWAS analysis in 2,187 european ancestry individuals(p-value = 5E-6 ;OR = 0.7783). 0.4 Genome-wide association study of facial morphology reveals novel associations with FREM1 and PARK2. NCRV0000003727 24882193 NONHSAT211650.1 rs13233490 ? N/A 206 european ancestry cases with binge eating behavior//723 european ancestry cases without binge eating behavior//1,034 european ancestry controls; 70 european ancestry cases with binge eating behavior//758 european ancestry cases without binge eating behavior//832 european ancestry controls EFO_0005924 N/A Associate Binge eating behaviour and bipolar disorder rs13233490-? of NONHSAT211650.1 is significantly associated with the binge eating behaviour and bipolar disorder by using GWAS analysis in 206 european ancestry cases with binge eating behavior//723 european ancestry cases without binge eating behavior//1,034 european ancestry controls; 70 european ancestry cases with binge eating behavior//758 european ancestry cases without binge eating behavior//832 european ancestry controls(p-value = 4E-6 ;OR = 4.89). 0.4 Bipolar disorder with comorbid binge eating history: a genome-wide association study implicates APOB. NCRV0000002927 28892062 NONHSAT152710.1 rs10754220 A N/A up to 72,390 japanese ancestry women//up to 85,894 japanese ancestry men; up to 10,048 japanese ancestry women//up to 5,098 japanese ancestry men//up to 181,999 european ancestry women//up to 140,155 european ancestry controls EFO_0001073 N/A Associate Body mass index rs10754220-A of NONHSAT152710.1 is significantly associated with the body mass index by using GWAS analysis in up to 72,390 japanese ancestry women//up to 85,894 japanese ancestry men; up to 10,048 japanese ancestry women//up to 5,098 japanese ancestry men//up to 181,999 european ancestry women//up to 140,155 european ancestry controls(p-value = 8E-9 ;OR = 0.018). 0.4 Genome-wide association study identifies 112 new loci for body mass index in the Japanese population. NCRV0000001852 28334935 NONHSAT100134.2 rs10064177 G N/A 12,375 hispanic/latino individuals EFO_0004459 N/A Associate Iron status biomarkers (ferritin levels) rs10064177-G of NONHSAT100134.2 is significantly associated with the iron status biomarkers (ferritin levels) by using GWAS analysis in 12,375 hispanic/latino individuals(p-value = 9E-8 ;OR = 0.024). 0.4 Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation? NCRV0000003042 17401363 NONHSAT216396.1 rs6983267 G N/A 1,172 european ancestry cases//1,157 european ancestry controls; 3,124 european ancestry cases//3,142 european ancestry controls EFO_0001663 N/A Associate Prostate cancer rs6983267-G of NONHSAT216396.1 is significantly associated with the prostate cancer by using GWAS analysis in 1,172 european ancestry cases//1,157 european ancestry controls; 3,124 european ancestry cases//3,142 european ancestry controls(p-value = 9E-13 ;OR = 1.26). 0.4 Genome-wide association study of prostate cancer identifies a second risk locus at 8q24. NCRV0000003753 22952603 NONHSAT177655.1 rs10502675 ? N/A 1 american indian ancestry individual//18 african american individuals//10 asian ancestry individuals//325 european ancestry individuals//17 hispanic individuals//10 individuals GO_0042493 N/A Associate Response to amphetamines rs10502675-? of NONHSAT177655.1 is significantly associated with the response to amphetamines by using GWAS analysis in 1 american indian ancestry individual//18 african american individuals//10 asian ancestry individuals//325 european ancestry individuals//17 hispanic individuals//10 individuals(p-value = 3E-6 ;OR = ?). 0.4 Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13). NCRV0000003767 26830138 NONHSAT190824.1 rs2409317 T N/A 2,478 european ancestry cases//979 ancestry controls both from the same 1,070 families EFO_0000249 N/A Associate Alzheimer disease and age of onset rs2409317-T of NONHSAT190824.1 is significantly associated with the alzheimer disease and age of onset by using GWAS analysis in 2,478 european ancestry cases//979 ancestry controls both from the same 1,070 families(p-value = 4E-7 ;OR = 5.088). 0.4 Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3. NCRV0000003155 28714907 NONHSAT200225.1 rs1372680 A N/A 1,331 german ancestry cases//1,934 german ancestry controls EFO_0003829 N/A Associate Alcohol dependence rs1372680-A of NONHSAT200225.1 is significantly associated with the alcohol dependence by using GWAS analysis in 1,331 german ancestry cases//1,934 german ancestry controls(p-value = 3E-6 ;OR = 1.482). 0.4 Genetic Contribution to Alcohol Dependence: Investigation of a Heterogeneous German Sample of Individuals with Alcohol Dependence, Chronic Alcoholic Pancreatitis, and Alcohol-Related Cirrhosis.LID - E183 [pii]LID - 10.3390/genes8070183 [doi NCRV0000002285 25918132 NONHSAT182785.1 rs1257344 ? N/A 74 european ancestry cases//824 european ancestry controls EFO_0000270 N/A Associate Diisocyanate-induced asthma rs1257344-? of NONHSAT182785.1 is significantly associated with the diisocyanate-induced asthma by using GWAS analysis in 74 european ancestry cases//824 european ancestry controls(p-value = 3E-6 ;OR = 2.3255813). 0.4 Genome-Wide Association Study Identifies Novel Loci Associated With Diisocyanate-Induced Occupational Asthma. NCRV0000001807 26030696 NONHSAT168862.1 rs3811345 A N/A 5,385 european ancestry chronic obstructive pulmonary disease cases//901 african american chronic obstructive pulmonary disease cases//3,613 european ancestry controls//2,132 african american controls EFO_0000341 N/A Associate Emphysema imaging phenotypes rs3811345-A of NONHSAT168862.1 is significantly associated with the emphysema imaging phenotypes by using GWAS analysis in 5,385 european ancestry chronic obstructive pulmonary disease cases//901 african american chronic obstructive pulmonary disease cases//3,613 european ancestry controls//2,132 african american controls(p-value = 2E-6 ;OR = 3.4). 0.4 A Genome-Wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes. NCRV0000001752 22745009 NONHSAT148960.1 rs3820201 A N/A 1149 european ancestry alzheimer disease cases//336 european ancestry individuals with mild cognitive impairment//188 european ancestry controls; 419 african american alzheimer disease cases EFO_0005039 N/A Associate Hippocampal atrophy rs3820201-A of NONHSAT148960.1 is significantly associated with the hippocampal atrophy by using GWAS analysis in 1149 european ancestry alzheimer disease cases//336 european ancestry individuals with mild cognitive impairment//188 european ancestry controls; 419 african american alzheimer disease cases(p-value = 1E-6 ;OR = ?). 0.4 Multiple loci influencing hippocampal degeneration identified by genome scan. NCRV0000001064 28090653 NONHSAT184241.1 rs149940960 T N/A up to 488 european ancestry cases//up to 111 african american cases//up to 60 hispanic cases//up to 56 other ancestry cases EFO_0000220 N/A Associate Alanine aminotransferase (alt) levels after remission induction therapy in actute lymphoblastic leukemia (all) rs149940960-T of NONHSAT184241.1 is significantly associated with the alanine aminotransferase (alt) levels after remission induction therapy in actute lymphoblastic leukemia (all) by using GWAS analysis in up to 488 european ancestry cases//up to 111 african american cases//up to 60 hispanic cases//up to 56 other ancestry cases(p-value = 2E-8 ;OR = 6.666666). 0.4 Genome-Wide Study Links PNPLA3 Variant With Elevated Hepatic Transaminase After Acute Lymphoblastic Leukemia Therapy. NCRV0000000003 28928442 NONHSAT183642.1 rs150237096 ? N/A 6,812 european ancestry cases//113,837 european ancestry controls EFO_0008409 N/A Associate Scarlet fever rs150237096-? of NONHSAT183642.1 is significantly associated with the scarlet fever by using GWAS analysis in 6,812 european ancestry cases//113,837 european ancestry controls(p-value = 5E-6 ;OR = 0.3501). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. NCRV0000000107 28453575 NONHSAT139199.2 rs1050828 C N/A 12,502 hispanic/latino individuals; 4,772 hispanic/latino individuals EFO_0004305 N/A Associate Red blood cell count rs1050828-C of NONHSAT139199.2 is significantly associated with the red blood cell count by using GWAS analysis in 12,502 hispanic/latino individuals; 4,772 hispanic/latino individuals(p-value = 2E-18 ;OR = 0.13). 0.4 Genome-wide association study of red blood cell traits in Hispanics/Latinos: The Hispanic Community Health Study/Study of Latinos. NCRV0000003763 18604267 NONHSAT061051.2 rs281437 ? N/A 4,570 european ancestry female individuals; 2,008 european ancestry female individuals HP_0001658 N/A Associate Soluble icam-1 rs281437-? of NONHSAT061051.2 is significantly associated with the soluble icam-1 by using GWAS analysis in 4,570 european ancestry female individuals; 2,008 european ancestry female individuals(p-value = 3E-10 ;OR = 10.1). 0.4 Novel association of ABO histo-blood group antigen with soluble ICAM-1: results of a genome-wide association study of 6,578 women. NCRV0000002138 28928442 NONHSAT208980.1 rs1055821 T N/A 52,487 european ancestry cases//22,017 european ancestry controls EFO_0008408 N/A Associate Strep throat rs1055821-T of NONHSAT208980.1 is significantly associated with the strep throat by using GWAS analysis in 52,487 european ancestry cases//22,017 european ancestry controls(p-value = 8E-11 ;OR = 0.08). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. NCRV0000000795 27863252 NONHSAT176938.1 rs12453682 T N/A 172,952 european ancestry individuals EFO_0004305 N/A Associate Red blood cell count rs12453682-T of NONHSAT176938.1 is significantly associated with the red blood cell count by using GWAS analysis in 172,952 european ancestry individuals(p-value = 2E-14 ;OR = 0.02985445). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001653 27863252 NONHSAT180208.1 rs143558304 TA N/A 166,066 european ancestry individuals EFO_0004309 N/A Associate Platelet count rs143558304-TA of NONHSAT180208.1 is significantly associated with the platelet count by using GWAS analysis in 166,066 european ancestry individuals(p-value = 4E-61 ;OR = 0.2327818). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000756 23251661 NONHSAT172428.1 rs17612678 G N/A 815 hispanic children from 263 families EFO_0004818 N/A Associate Obesity-related traits rs17612678-G of NONHSAT172428.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 5E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. NCRV0000002334 20228799 NONHSAT191834.1 rs2836878 G N/A 2,693 european ancestry cases//6,791 european ancestry controls; 2,009 european ancestry cases//1,580 european ancestry controls EFO_0000729 N/A Associate Ulcerative colitis rs2836878-G of NONHSAT191834.1 is significantly associated with the ulcerative colitis by using GWAS analysis in 2,693 european ancestry cases//6,791 european ancestry controls; 2,009 european ancestry cases//1,580 european ancestry controls(p-value = 1E-8 ;OR = 1.27). 0.4 Genome-wide association identifies multiple ulcerative colitis susceptibility loci. NCRV0000001638 27846195 NONHSAT022124.2 rs4102217 G N/A 1,390 european ancestry cases EFO_0000692 paliperidone Associate Response to paliperidone in schizophrenia (positive marder score) rs4102217-G of NONHSAT022124.2 is significantly associated with the response to paliperidone in schizophrenia (positive marder score) by using GWAS analysis in 1,390 european ancestry cases(p-value = 7E-6 ;OR = 1.2945). 0.4 Genome-wide association study of paliperidone efficacy. NCRV0000002175 22916037 NONHSAT215396.1 rs4841132 ? N/A 6,608 european ancestry individuals EFO_0004723 N/A Associate Metabolite levels rs4841132-? of NONHSAT215396.1 is significantly associated with the metabolite levels by using GWAS analysis in 6,608 european ancestry individuals(p-value = 2E-9 ;OR = ?). 0.4 Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis. NCRV0000002384 26821981 NONHSAT184552.1 rs698761 G N/A up to 39 european ancestry schizophrenia cases//up to 40 european ancestry schizoaffective cases EFO_0000692 antipsychotic drug Associate Antipsychotic drug dosage in schizophrenia or schizoaffective disorder rs698761-G of NONHSAT184552.1 is significantly associated with the antipsychotic drug dosage in schizophrenia or schizoaffective disorder by using GWAS analysis in up to 39 european ancestry schizophrenia cases//up to 40 european ancestry schizoaffective cases(p-value = 5E-6 ;OR = 0.2023). 0.4 Genome-wide association analysis to predict optimal antipsychotic dosage in schizophrenia: a pilot study. NCRV0000000560 28928442 NONHSAT208945.1 rs2523815 A N/A 16,711 european ancestry cases//118,152 european ancestry controls EFO_0008401 N/A Associate Shingles rs2523815-A of NONHSAT208945.1 is significantly associated with the shingles by using GWAS analysis in 16,711 european ancestry cases//118,152 european ancestry controls(p-value = 2E-22 ;OR = 1.12). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. NCRV0000003048 28743860 NONHSAT183032.1 rs6726821 G N/A 8,327 european ancestry individuals//2,087 individuals EFO_0007591 N/A Associate Tb-lm or tblh-bmd (pleiotropy) rs6726821-G of NONHSAT183032.1 is significantly associated with the tb-lm or tblh-bmd (pleiotropy) by using GWAS analysis in 8,327 european ancestry individuals//2,087 individuals(p-value = 4E-8 ;OR = ?). 0.4 Bivariate genome-wide association meta-analysis of pediatric musculoskeletal traits reveals pleiotropic effects at the SREBF1/TOM1L2 locus. NCRV0000003607 27863252 NONHSAT011933.2 rs2491251 G N/A 169,545 european ancestry individuals EFO_0007997 N/A Associate Granulocyte percentage of myeloid white cells rs2491251-G of NONHSAT011933.2 is significantly associated with the granulocyte percentage of myeloid white cells by using GWAS analysis in 169,545 european ancestry individuals(p-value = 2E-11 ;OR = 0.02848554). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003239 25517131 NONHSAT188100.1 rs734556 ? N/A 2,640 individuals; up to 714 individuals EFO_0006898 N/A Associate Airway wall thickness rs734556-? of NONHSAT188100.1 is significantly associated with the airway wall thickness by using GWAS analysis in 2,640 individuals; up to 714 individuals(p-value = 2E-6 ;OR = 0.036). 0.4 Novel genes for airway wall thickness identified with combined genome-wide association and expression analyses. NCRV0000003001 27126917 NONHSAT206680.1 rs853410 G N/A 941 european ancestry individuals EFO_0008568 N/A Associate Night sleep phenotypes rs853410-G of NONHSAT206680.1 is significantly associated with the night sleep phenotypes by using GWAS analysis in 941 european ancestry individuals(p-value = 9E-6 ;OR = 0.3658). 0.4 Genome-wide association analysis of actigraphic sleep phenotypes in the LIFE Adult Study. NCRV0000001502 27863252 NONHSAT207134.1 rs1042133 C N/A 170,721 european ancestry individuals EFO_0005091 N/A Associate Monocyte count rs1042133-C of NONHSAT207134.1 is significantly associated with the monocyte count by using GWAS analysis in 170,721 european ancestry individuals(p-value = 3E-12 ;OR = 0.03465061). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001303 21499248 NONHSAT208981.1 rs2596542 A N/A 721 japanese ancestry cases//2,890 japanese ancestry controls; 673 japanese ancestry cases//2,596 japanese ancestry controls EFO_0000182 N/A Associate Hepatocellular carcinoma rs2596542-A of NONHSAT208981.1 is significantly associated with the hepatocellular carcinoma by using GWAS analysis in 721 japanese ancestry cases//2,890 japanese ancestry controls; 673 japanese ancestry cases//2,596 japanese ancestry controls(p-value = 4E-13 ;OR = 1.39). 0.4 Genome-wide association study identifies a susceptibility locus for HCV-induced hepatocellular carcinoma. NCRV0000003765 25064007 NONHSAT112964.2 rs927485 C N/A 1,112 japanese ancestry cases//6,810 japanese ancestry controls; 548 japanese ancestry cases//6,469 japanese ancestry controls EFO_0005895 N/A Associate Ossification of the posterior longitudinal ligament of the spine rs927485-C of NONHSAT112964.2 is significantly associated with the ossification of the posterior longitudinal ligament of the spine by using GWAS analysis in 1,112 japanese ancestry cases//6,810 japanese ancestry controls; 548 japanese ancestry cases//6,469 japanese ancestry controls(p-value = 9E-9 ;OR = 1.33). 0.4 A genome-wide association study identifies susceptibility loci for ossification of the posterior longitudinal ligament of the spine. NCRV0000001696 24816252 NONHSAT196716.1 rs5030062 A N/A 7,824 european ancestry individuals EFO_0005664 N/A Associate Blood metabolite levels rs5030062-A of NONHSAT196716.1 is significantly associated with the blood metabolite levels by using GWAS analysis in 7,824 european ancestry individuals(p-value = 6E-13 ;OR = 0.072). 0.4 An atlas of genetic influences on human blood metabolites. NCRV0000003822 23042114 NONHSAT214273.1 rs4722404 G N/A 1,472 japanese ancestry cases//7,971 japanese ancestry controls; 1,856 japanese ancestry cases//7,021 japanese ancestry controls EFO_0000274 N/A Associate Atopic dermatitis rs4722404-G of NONHSAT214273.1 is significantly associated with the atopic dermatitis by using GWAS analysis in 1,472 japanese ancestry cases//7,971 japanese ancestry controls; 1,856 japanese ancestry cases//7,021 japanese ancestry controls(p-value = 8E-9 ;OR = 1.18). 0.4 Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population. NCRV0000002566 28448500 NONHSAT141526.2 rs2008514 A N/A 2,518 african american women//86,278 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//55,137 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men EFO_0001073 joint analysis main effects and physical activity interaction Associate Body mass index rs2008514-A of NONHSAT141526.2 is significantly associated with the body mass index by using GWAS analysis in 2,518 african american women//86,278 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//55,137 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men(p-value = 1E-10 ;OR = 0.0339). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. NCRV0000002711 28115739 NONHSAT184257.1 rs7578347 T N/A 1,027 european american cases//383 african american cases EFO_0005611 N/A Associate Methadone dose in opioid dependence rs7578347-T of NONHSAT184257.1 is significantly associated with the methadone dose in opioid dependence by using GWAS analysis in 1,027 european american cases//383 african american cases(p-value = 3E-7 ;OR = 0.3926). 0.4 Genome-wide association study of therapeutic opioid dosing identifies a novel locus upstream of OPRM1. NCRV0000003235 28232668 NONHSAT188042.1 rs6734545 A N/A 2,033 han chinese ancestry cases//4,051 han chinese ancestry controls; 1,346 han chinese ancestry cases//4,542 han chinese ancestry controls EFO_0003959 N/A Associate Nonsyndromic cleft lip with cleft palate rs6734545-A of NONHSAT188042.1 is significantly associated with the nonsyndromic cleft lip with cleft palate by using GWAS analysis in 2,033 han chinese ancestry cases//4,051 han chinese ancestry controls; 1,346 han chinese ancestry cases//4,542 han chinese ancestry controls(p-value = 8E-7 ;OR = 1.2). 0.4 Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity. NCRV0000001845 28441456 NONHSAT176361.1 rs11650482 A N/A 2,187 european ancestry individuals EFO_0007843 N/A Associate Facial morphology (factor 21//depth of nasal alae) rs11650482-A of NONHSAT176361.1 is significantly associated with the facial morphology (factor 21//depth of nasal alae) by using GWAS analysis in 2,187 european ancestry individuals(p-value = 3E-6 ;OR = 0.1866). 0.4 Genome-wide association study of facial morphology reveals novel associations with FREM1 and PARK2. NCRV0000002359 27650483 NONHSAT160034.1 rs334 T N/A 5,458 caribbean hispanic/latino individuals//6,734 mainland hispanic/latino individuals//34 hispanic/latino individuals EFO_0007778 N/A Associate Urinary albumin-to-creatinine ratio rs334-T of NONHSAT160034.1 is significantly associated with the urinary albumin-to-creatinine ratio by using GWAS analysis in 5,458 caribbean hispanic/latino individuals//6,734 mainland hispanic/latino individuals//34 hispanic/latino individuals(p-value = 3E-10 ;OR = 0.5). 0.4 African Ancestry-Specific Alleles and Kidney Disease Risk in Hispanics/Latinos. NCRV0000002545 26634245 NONHSAT211647.1 rs1009115 C N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs1009115-C of NONHSAT211647.1 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 3E-6 ;OR = 0.15). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000001616 28107422 NONHSAT119352.2 rs10950690 ? N/A 91,953 european ancestry individuals (imputed to hapmap); EFO_0004623 N/A Associate Fibrinogen levels rs10950690-? of NONHSAT119352.2 is significantly associated with the fibrinogen levels by using GWAS analysis in 91,953 european ancestry individuals (imputed to hapmap); (p-value = 1E-11 ;OR = 0.0071). 0.4 Comparison of HapMap and 1000 Genomes Reference Panels in a Large-Scale Genome-Wide Association Study. NCRV0000000479 28441426 NONHSAT167589.1 rs9527561 A N/A 979 european ancestry individuals EFO_0003925 N/A Associate Residual cognition rs9527561-A of NONHSAT167589.1 is significantly associated with the residual cognition by using GWAS analysis in 979 european ancestry individuals(p-value = 2E-6 ;OR = 0.21). 0.4 Identification of genes associated with dissociation of cognitive performance and neuropathological burden: Multistep analysis of genetic, epigenetic, and transcriptional data. NCRV0000001008 26192919 NONHSAT104582.2 rs17800987 ? N/A 12,882 european ancestry cases//21,770 european ancestry controls; 25,273 european ancestry cases//26,715 european ancestry controls//548 iranian ancestry cases//342 iranian ancestry control//1,423 indian ancestry cases//990 indian ancestry controls//2,824 east asian ancestry cases//3,719 east asian ancestry controls EFO_0003767 N/A Associate Inflammatory bowel disease rs17800987-? of NONHSAT104582.2 is significantly associated with the inflammatory bowel disease by using GWAS analysis in 12,882 european ancestry cases//21,770 european ancestry controls; 25,273 european ancestry cases//26,715 european ancestry controls//548 iranian ancestry cases//342 iranian ancestry control//1,423 indian ancestry cases//990 indian ancestry controls//2,824 east asian ancestry cases//3,719 east asian ancestry controls(p-value = 2E-31 ;OR = ?). 0.4 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. NCRV0000001560 26198764 NONHSAT040167.2 rs12432904 G N/A 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls EFO_0000692 N/A Associate Schizophrenia rs12432904-G of NONHSAT040167.2 is significantly associated with the schizophrenia by using GWAS analysis in 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls(p-value = 4E-6 ;OR = 1.0526316). 0.4 Genome-wide association study of schizophrenia in Ashkenazi Jews. NCRV0000001679 21570397 NONHSAT108925.2 rs9274407 ? N/A 201 european ancestry cases//532 european ancestry controls EFO_0004228 N/A Associate Drug-induced liver injury (amoxicillin-clavulanate) rs9274407-? of NONHSAT108925.2 is significantly associated with the drug-induced liver injury (amoxicillin-clavulanate) by using GWAS analysis in 201 european ancestry cases//532 european ancestry controls(p-value = 5E-14 ;OR = 3.1). 0.4 Susceptibility to amoxicillin-clavulanate-induced liver injury is influenced by multiple HLA class I and II alleles. NCRV0000001333 25117820 NONHSAT211248.1 rs2496589 ? N/A 255 european ancestry cases//387 european ancestry controls; EFO_0005944 N/A Associate Response to chemotherapy in breast cancer hypertensive cases (cumulative dose) (bevacizumab) rs2496589-? of NONHSAT211248.1 is significantly associated with the response to chemotherapy in breast cancer hypertensive cases (cumulative dose) (bevacizumab) by using GWAS analysis in 255 european ancestry cases//387 european ancestry controls; (p-value = 5E-6 ;OR = 1.7). 0.4 Genetic variant predicts bevacizumab-induced hypertension in ECOG-5103 and ECOG-2100. NCRV0000001342 28739976 NONHSAT174835.1 rs7503751 A N/A 150,134 european ancestry individuals; 87,359 european ancestry individuals//140,886 european and unknown ancestry individuals EFO_0000319 N/A Associate Systolic blood pressure rs7503751-A of NONHSAT174835.1 is significantly associated with the systolic blood pressure by using GWAS analysis in 150,134 european ancestry individuals; 87,359 european ancestry individuals//140,886 european and unknown ancestry individuals(p-value = 1E-6 ;OR = 0.701). 0.4 Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.LID - HYPERTENSIONAHA.117.09438 [pii]LID - 10.1161/HYPERTENSIONAHA.117.09438 [doi]AB - Elevated blood pressure NCRV0000000158 25524916 NONHSAT042020.2 rs10851411 ? N/A up to 4,176 mexican american individuals EFO_0001360 N/A Associate Glucose homeostasis traits rs10851411-? of NONHSAT042020.2 is significantly associated with the glucose homeostasis traits by using GWAS analysis in up to 4,176 mexican american individuals(p-value = 6E-6 ;OR = 0.14). 0.4 Genetic Variants Associated With Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium. NCRV0000000297 22504420 NONHSAT161237.1 rs600231 A N/A up to 32,961 european and east asian ancestry individuals; up to 50,933 european and east asian ancestry individuals EFO_0003923 N/A Associate Bone mineral density rs600231-A of NONHSAT161237.1 is significantly associated with the bone mineral density by using GWAS analysis in up to 32,961 european and east asian ancestry individuals; up to 50,933 european and east asian ancestry individuals(p-value = 4E-6 ;OR = 0.02). 0.4 Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. NCRV0000002752 29064472 NONHSAT191354.1 rs57646126 ? N/A 114 african ancestry schizophrenia cases//69 african schizo-affective cases//41 african ancestry bipolar disorder cases//116 european ancestry schizophrenia cases//86 european ancestry schizo-affective cases//165 european ancestry bipolar disorder cases. EFO_0008434 N/A Associate Initial pursuit acceleration in psychotic disorders rs57646126-? of NONHSAT191354.1 is significantly associated with the initial pursuit acceleration in psychotic disorders by using GWAS analysis in 114 african ancestry schizophrenia cases//69 african schizo-affective cases//41 african ancestry bipolar disorder cases//116 european ancestry schizophrenia cases//86 european ancestry schizo-affective cases//165 european ancestry bipolar disorder cases.(p-value = 8E-8 ;OR = ?). 0.4 Genome-wide association studies of smooth pursuit and antisaccade eye movements in psychotic disorders: findings from the B-SNIP study. NCRV0000002473 28199695 NONHSAT070890.2 rs10180282 T N/A 84,724 european ancestry individuals EFO_0008378 N/A Associate Mosquito bite size rs10180282-T of NONHSAT070890.2 is significantly associated with the mosquito bite size by using GWAS analysis in 84,724 european ancestry individuals(p-value = 7E-6 ;OR = 0.0234796). 0.4 GWAS of self-reported mosquito bite size, itch intensity and attractiveness to mosquitoes implicates immune-related predisposition loci. NCRV0000001128 27863252 NONHSAT040174.2 rs2765041 A N/A 170,761 european ancestry individuals EFO_0007986 N/A Associate High light scatter reticulocyte count rs2765041-A of NONHSAT040174.2 is significantly associated with the high light scatter reticulocyte count by using GWAS analysis in 170,761 european ancestry individuals(p-value = 3E-10 ;OR = 0.02492265). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001492 22700719 NONHSAT159793.1 rs735665 A N/A 1,121 european ancestry cases//3,745 european ancestry controls; 861 european ancestry cases//2,033 european ancestry controls EFO_0000095 N/A Associate Chronic lymphocytic leukemia rs735665-A of NONHSAT159793.1 is significantly associated with the chronic lymphocytic leukemia by using GWAS analysis in 1,121 european ancestry cases//3,745 european ancestry controls; 861 european ancestry cases//2,033 european ancestry controls(p-value = 3E-12 ;OR = 1.52). 0.4 Common variation at 6p21.31 (BAK1) influences the risk of chronic lymphocytic leukemia. NCRV0000000898 23273568 NONHSAT210400.1 rs9270984 T N/A 1,656 han chinese ancestry cases//3,394 han chinese ancestry controls; 3,256 han chinese ancestry cases//5,667 han chinese ancestry controls//453 thai ancestry cases//963 thai ancestry controls EFO_0002690 N/A Associate Systemic lupus erythematosus rs9270984-T of NONHSAT210400.1 is significantly associated with the systemic lupus erythematosus by using GWAS analysis in 1,656 han chinese ancestry cases//3,394 han chinese ancestry controls; 3,256 han chinese ancestry cases//5,667 han chinese ancestry controls//453 thai ancestry cases//963 thai ancestry controls(p-value = 5E-24 ;OR = 1.73). 0.4 Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians. NCRV0000001252 25673413 NONHSAT069699.2 rs11126666 A N/A up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals EFO_0001073 N/A Associate Body mass index rs11126666-A of NONHSAT069699.2 is significantly associated with the body mass index by using GWAS analysis in up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals(p-value = 1E-9 ;OR = 0.021). 0.4 Genetic studies of body mass index yield new insights for obesity biology. NCRV0000002173 28892062 NONHSAT112682.2 rs2033529 G N/A up to 72,390 japanese ancestry women//up to 85,894 japanese ancestry men; up to 10,048 japanese ancestry women//up to 5,098 japanese ancestry men//up to 181,999 european ancestry women//up to 140,155 european ancestry controls EFO_0001073 N/A Associate Body mass index rs2033529-G of NONHSAT112682.2 is significantly associated with the body mass index by using GWAS analysis in up to 72,390 japanese ancestry women//up to 85,894 japanese ancestry men; up to 10,048 japanese ancestry women//up to 5,098 japanese ancestry men//up to 181,999 european ancestry women//up to 140,155 european ancestry controls(p-value = 7E-10 ;OR = 0.015). 0.4 Genome-wide association study identifies 112 new loci for body mass index in the Japanese population. NCRV0000002561 28199695 NONHSAT098168.2 rs377070 G N/A 84,724 european ancestry individuals EFO_0008378 N/A Associate Mosquito bite size rs377070-G of NONHSAT098168.2 is significantly associated with the mosquito bite size by using GWAS analysis in 84,724 european ancestry individuals(p-value = 3E-39 ;OR = 0.0704348). 0.4 GWAS of self-reported mosquito bite size, itch intensity and attractiveness to mosquitoes implicates immune-related predisposition loci. NCRV0000003319 23419831 NONHSAT205734.1 rs7702276 T N/A 555 european ancestry individuals EFO_0000249 N/A Associate Alzheimer's disease biomarkers rs7702276-T of NONHSAT205734.1 is significantly associated with the alzheimer's disease biomarkers by using GWAS analysis in 555 european ancestry individuals(p-value = 1E-6 ;OR = ?). 0.4 APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study. NCRV0000002645 19483685 NONHSAT221711.1 rs10812428 ? N/A 58 european ancestry cases//282 european ancestry controls EFO_0004228 N/A Associate Drug-induced liver injury (flucloxacillin) rs10812428-? of NONHSAT221711.1 is significantly associated with the drug-induced liver injury (flucloxacillin) by using GWAS analysis in 58 european ancestry cases//282 european ancestry controls(p-value = 1E-6 ;OR = 2.85). 0.4 HLA-B*5701 genotype is a major determinant of drug-induced liver injury due to flucloxacillin. NCRV0000001880 27043157 NONHSAT191951.1 rs5748871 ? N/A up to 1,026 child monozygotic twin pairs EFO_0007803 N/A Associate Discordance in emotional problems in monozygotic twins rs5748871-? of NONHSAT191951.1 is significantly associated with the discordance in emotional problems in monozygotic twins by using GWAS analysis in up to 1,026 child monozygotic twin pairs(p-value = 2E-6 ;OR = 0.1915). 0.4 A Genome-Wide Test of the Differential Susceptibility Hypothesis Reveals a Genetic Predictor of Differential Response to Psychological Treatments for Child Anxiety Disorders. NCRV0000002106 22504420 NONHSAT208858.1 rs9466056 A N/A up to 32,961 european and east asian ancestry individuals; up to 50,933 european and east asian ancestry individuals EFO_0003923 N/A Associate Bone mineral density rs9466056-A of NONHSAT208858.1 is significantly associated with the bone mineral density by using GWAS analysis in up to 32,961 european and east asian ancestry individuals; up to 50,933 european and east asian ancestry individuals(p-value = 3E-13 ;OR = 0.04). 0.4 Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. NCRV0000002202 27863252 NONHSAT174234.1 rs142686179 A N/A 172,332 european ancestry individuals EFO_0004527 N/A Associate Mean corpuscular hemoglobin rs142686179-A of NONHSAT174234.1 is significantly associated with the mean corpuscular hemoglobin by using GWAS analysis in 172,332 european ancestry individuals(p-value = 1E-10 ;OR = 0.6205361). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000947 24658283 NONHSAT046812.2 rs4589502 T N/A 1,506 han chinese ancestry smoker cases//825 han chinese ancestry non-smoker cases//1,309 han chinese ancestry smoker controls//1,768 han chinese ancestry non-smoker controls; 912 han chinese ancestry smoker cases//622 han chinese ancestry non-smoker cases//572 han chinese ancestry smoker controls//917 han chinese ancestry non-smoker controls EFO_0001071 smoking interaction Associate Lung cancer (smoking interaction) rs4589502-T of NONHSAT046812.2 is significantly associated with the lung cancer (smoking interaction) by using GWAS analysis in 1,506 han chinese ancestry smoker cases//825 han chinese ancestry non-smoker cases//1,309 han chinese ancestry smoker controls//1,768 han chinese ancestry non-smoker controls; 912 han chinese ancestry smoker cases//622 han chinese ancestry non-smoker cases//572 han chinese ancestry smoker controls//917 han chinese ancestry non-smoker controls(p-value = 4E-6 ;OR = 1.55). 0.4 A genome-wide gene-environment interaction analysis for tobacco smoke and lung cancer susceptibility. NCRV0000003884 28093568 NONHSAT198178.1 rs12500482 ? N/A up to 35,298 european ancestry individuals EFO_0003925 N/A Associate Cognitive function rs12500482-? of NONHSAT198178.1 is significantly associated with the cognitive function by using GWAS analysis in up to 35,298 european ancestry individuals(p-value = 1E-6 ;OR = 0.038). 0.4 GWAS meta-analysis reveals novel loci and genetic correlates for general cognitive function: a report from the COGENT consortium. NCRV0000002227 28166215 NONHSAT218622.1 rs1265120 C N/A 11,157 european ancestry cases//36,699 european ancestry controls//1,142 african american cases//2,380 african american controls//199 korean ancestry cases//6,741 korean ancestry controls//52 hispanic cases//548 hispanic controls.; 12,051 european ancestry cases//11,111 european ancestry controls//153 korean ancestry cases//205 korean ancestry controls. EFO_0000341 N/A Associate Chronic obstructive pulmonary disease rs1265120-C of NONHSAT218622.1 is significantly associated with the chronic obstructive pulmonary disease by using GWAS analysis in 11,157 european ancestry cases//36,699 european ancestry controls//1,142 african american cases//2,380 african american controls//199 korean ancestry cases//6,741 korean ancestry controls//52 hispanic cases//548 hispanic controls.; 12,051 european ancestry cases//11,111 european ancestry controls//153 korean ancestry cases//205 korean ancestry controls.(p-value = 4E-6 ;OR = 1.038). 0.4 Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis. NCRV0000003424 25673413 NONHSAT208090.1 rs13201877 G N/A up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals EFO_0001073 N/A Associate Body mass index rs13201877-G of NONHSAT208090.1 is significantly associated with the body mass index by using GWAS analysis in up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals(p-value = 2E-7 ;OR = 0.023). 0.4 Genetic studies of body mass index yield new insights for obesity biology. NCRV0000002573 27629369 NONHSAT206095.1 rs142233735 ? N/A 8,490 european ancestry individuals//1,228 african american individuals//867 hispanic american individuals//175 individuals EFO_0007865 N/A Associate Loneliness (multivariate analysis) rs142233735-? of NONHSAT206095.1 is significantly associated with the loneliness (multivariate analysis) by using GWAS analysis in 8,490 european ancestry individuals//1,228 african american individuals//867 hispanic american individuals//175 individuals(p-value = 8E-6 ;OR = ?). 0.4 Genome-Wide Association Study of Loneliness Demonstrates a Role for Common Variation. NCRV0000002147 27680694 NONHSAT128973.2 rs6989280 G N/A 133,903 european ancestry individuals//6,635 african american individuals//420 turkish ancestry individuals//365 moroccan ancestry individuals//395 surinamese ancestry individuals//840 chinese ancestry individuals.; 9,799 european ancestry individuals//1,449 filipino ancestry individuals. EFO_0004344 N/A Associate Birth weight rs6989280-G of NONHSAT128973.2 is significantly associated with the birth weight by using GWAS analysis in 133,903 european ancestry individuals//6,635 african american individuals//420 turkish ancestry individuals//365 moroccan ancestry individuals//395 surinamese ancestry individuals//840 chinese ancestry individuals.; 9,799 european ancestry individuals//1,449 filipino ancestry individuals.(p-value = 5E-8 ;OR = 0.0221). 0.4 Genome-wide associations for birth weight and correlations with adult disease. NCRV0000002137 27863252 NONHSAT017531.2 rs2239897 G N/A 164,339 european ancestry individuals EFO_0007985 N/A Associate Plateletcrit rs2239897-G of NONHSAT017531.2 is significantly associated with the plateletcrit by using GWAS analysis in 164,339 european ancestry individuals(p-value = 4E-9 ;OR = 0.04672705). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000582 28928442 NONHSAT108734.2 rs885950 C N/A 25,108 european ancestry cases//63,332 european ancestry controls EFO_0008402 N/A Associate Cold sores rs885950-C of NONHSAT108734.2 is significantly associated with the cold sores by using GWAS analysis in 25,108 european ancestry cases//63,332 european ancestry controls(p-value = 7E-13 ;OR = 1.08). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. NCRV0000003966 23870195 NONHSAT066079.2 rs7246657 T N/A 5,823 african american individuals; 9,992 european ancestry individuals EFO_0004723 N/A Associate Coronary artery calcification rs7246657-T of NONHSAT066079.2 is significantly associated with the coronary artery calcification by using GWAS analysis in 5,823 african american individuals; 9,992 european ancestry individuals(p-value = 7E-6 ;OR = 0.16). 0.4 Genetics of coronary artery calcification among African Americans, a meta-analysis. NCRV0000000448 26561523 NONHSAT204695.1 rs2057655 A N/A 120,246 european ancestry individuals EFO_0004623 N/A Associate Fibrinogen levels rs2057655-A of NONHSAT204695.1 is significantly associated with the fibrinogen levels by using GWAS analysis in 120,246 european ancestry individuals(p-value = 2E-73 ;OR = 0.0203). 0.4 A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration. NCRV0000000468 25918132 NONHSAT098194.2 rs111361850 A N/A 74 european ancestry cases//824 european ancestry controls EFO_0000270 N/A Associate Diisocyanate-induced asthma rs111361850-A of NONHSAT098194.2 is significantly associated with the diisocyanate-induced asthma by using GWAS analysis in 74 european ancestry cases//824 european ancestry controls(p-value = 1E-6 ;OR = 34.08). 0.4 Genome-Wide Association Study Identifies Novel Loci Associated With Diisocyanate-Induced Occupational Asthma. NCRV0000002544 21399635 NONHSAT207123.1 rs7774434 C N/A 1,840 european ancestry cases//5,163 european ancestry controls and (liu et al); 620 european ancestry cases//2,514 european ancestry controls EFO_0004267 N/A Associate Primary biliary cholangitis rs7774434-C of NONHSAT207123.1 is significantly associated with the primary biliary cholangitis by using GWAS analysis in 1,840 european ancestry cases//5,163 european ancestry controls and (liu et al); 620 european ancestry cases//2,514 european ancestry controls(p-value = 4E-34 ;OR = 1.6). 0.4 Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis. NCRV0000001690 23517042 NONHSAT056961.2 rs643507 C N/A 1,881 european ancestry children//810 children//2,643 european ancestry adult individuals//817 adult individuals; 979 european ancestry children//921 hispanic children//120 children EFO_0001073 in asthmatics Associate Body mass index in asthmatics rs643507-C of NONHSAT056961.2 is significantly associated with the body mass index in asthmatics by using GWAS analysis in 1,881 european ancestry children//810 children//2,643 european ancestry adult individuals//817 adult individuals; 979 european ancestry children//921 hispanic children//120 children(p-value = 8E-9 ;OR = ?). 0.4 Genome-wide association study of body mass index in 23 000 individuals with and without asthma. NCRV0000003144 26192919 NONHSAT191238.1 rs2823286 G N/A 6,968 european ancestry cases//20,464 european ancestry controls; 10,679 european ancestry cases//26,715 european ancestry controls//397 iranian ancestry cases//342 iranian ancestry controls//1,239 indian ancestry cases//990 indian ancestry controls//1,134 east asian ancestry cases//3,719 east asian ancestry controls EFO_0000729 N/A Associate Ulcerative colitis rs2823286-G of NONHSAT191238.1 is significantly associated with the ulcerative colitis by using GWAS analysis in 6,968 european ancestry cases//20,464 european ancestry controls; 10,679 european ancestry cases//26,715 european ancestry controls//397 iranian ancestry cases//342 iranian ancestry controls//1,239 indian ancestry cases//990 indian ancestry controls//1,134 east asian ancestry cases//3,719 east asian ancestry controls(p-value = 2E-12 ;OR = 1.1033705). 0.4 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. NCRV0000003975 28604730 NONHSAT166350.1 rs118166185 G N/A 7,426 european ancestry cases//55,627 european ancestry controls EFO_0000708 N/A Associate Squamous cell lung carcinoma rs118166185-G of NONHSAT166350.1 is significantly associated with the squamous cell lung carcinoma by using GWAS analysis in 7,426 european ancestry cases//55,627 european ancestry controls(p-value = 5E-6 ;OR = 1.2207745). 0.4 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. NCRV0000000441 21102462 NONHSAT218435.1 rs7821178 A N/A 86,142 european ancestry female individuals//557 old order amish (founder/genetic isolate) female individuals//1,103 erasmus rucphen (founder/genetic isolate) female individuals; up to 12,813 european ancestry female individuals//910 val borbera (founder/genetic isolate) female individuals//348 orcadian (founder/genetic isolate) female individuals//338 friuli venezia giulia (founder/genetic isolate) female individuals//322 carlantino (founder/genetic/isolate) female individuals EFO_0004703 N/A Associate Menarche (age at onset) rs7821178-A of NONHSAT218435.1 is significantly associated with the menarche (age at onset) by using GWAS analysis in 86,142 european ancestry female individuals//557 old order amish (founder/genetic isolate) female individuals//1,103 erasmus rucphen (founder/genetic isolate) female individuals; up to 12,813 european ancestry female individuals//910 val borbera (founder/genetic isolate) female individuals//348 orcadian (founder/genetic isolate) female individuals//338 friuli venezia giulia (founder/genetic isolate) female individuals//322 carlantino (founder/genetic/isolate) female individuals(p-value = 3E-9 ;OR = 2.4). 0.4 Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. NCRV0000002770 28240269 NONHSAT161045.1 rs1993373 A N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008282 N/A Associate Blood protein levels rs1993373-A of NONHSAT161045.1 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 2E-105 ;OR = 0.917). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. NCRV0000001656 28441456 NONHSAT215097.1 rs2727513 T N/A 2,187 european ancestry individuals EFO_0007858 N/A Associate Facial morphology (factor 2//vertical position of orbits relative to midface) rs2727513-T of NONHSAT215097.1 is significantly associated with the facial morphology (factor 2//vertical position of orbits relative to midface) by using GWAS analysis in 2,187 european ancestry individuals(p-value = 4E-6 ;OR = 0.1564). 0.4 Genome-wide association study of facial morphology reveals novel associations with FREM1 and PARK2. NCRV0000002868 28928442 NONHSAT063044.2 rs769267 ? N/A 60,098 european ancestry cases//113,323 european ancestry controls EFO_0007924 N/A Associate Tonsillectomy rs769267-? of NONHSAT063044.2 is significantly associated with the tonsillectomy by using GWAS analysis in 60,098 european ancestry cases//113,323 european ancestry controls(p-value = 5E-7 ;OR = 0.0434). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. NCRV0000003944 23583979 NONHSAT205032.1 rs6882776 G N/A 85,787 european ancestry individuals//6,568 indian asian ancestry indiviudals; 88,823 european ancestry individuals MONDO_0000992 N/A Associate Heart rate rs6882776-G of NONHSAT205032.1 is significantly associated with the heart rate by using GWAS analysis in 85,787 european ancestry individuals//6,568 indian asian ancestry indiviudals; 88,823 european ancestry individuals(p-value = 2E-12 ;OR = 0.301). 0.4 Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. NCRV0000003917 19656524 NONHSAT218889.1 rs987525 ? N/A 111 european ancestry cases//5,951 european ancestry controls MONDO_0000358 N/A Associate Orofacial clefts rs987525-? of NONHSAT218889.1 is significantly associated with the orofacial clefts by using GWAS analysis in 111 european ancestry cases//5,951 european ancestry controls(p-value = 9E-8 ;OR = 2.09). 0.4 A genome-wide association study identifies a locus for nonsyndromic cleft lip with or without cleft palate on 8q24. NCRV0000002325 27126917 NONHSAT106557.2 rs3800123 A N/A 874 european ancestry individuals EFO_0007828 N/A Associate Daytime sleep phenotypes rs3800123-A of NONHSAT106557.2 is significantly associated with the daytime sleep phenotypes by using GWAS analysis in 874 european ancestry individuals(p-value = 4E-8 ;OR = 1.413). 0.4 Genome-wide association analysis of actigraphic sleep phenotypes in the LIFE Adult Study. NCRV0000003434 17529967 NONHSAT173881.1 rs3803662 T N/A 390 european ancestry cases//364 european ancestry controls; 4,364 east asian ancestry cases//24,174 european ancestry controls//3,564 east asian ancestry controls//24,391 european ancestry controls EFO_0000305 N/A Associate Breast cancer rs3803662-T of NONHSAT173881.1 is significantly associated with the breast cancer by using GWAS analysis in 390 european ancestry cases//364 european ancestry controls; 4,364 east asian ancestry cases//24,174 european ancestry controls//3,564 east asian ancestry controls//24,391 european ancestry controls(p-value = 1E-36 ;OR = 1.2). 0.4 Genome-wide association study identifies novel breast cancer susceptibility loci. NCRV0000000983 19416921 NONHSAT195782.1 rs1042779 A N/A 3,683 european ancestry cases//14,507 european ancestry controls EFO_0000289 N/A Associate Bipolar disorder rs1042779-A of NONHSAT195782.1 is significantly associated with the bipolar disorder by using GWAS analysis in 3,683 european ancestry cases//14,507 european ancestry controls(p-value = 2E-7 ;OR = 1.19). 0.4 Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry. NCRV0000003777 26198764 NONHSAT191428.1 rs6517329 A N/A 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls EFO_0000692 N/A Associate Schizophrenia rs6517329-A of NONHSAT191428.1 is significantly associated with the schizophrenia by using GWAS analysis in 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls(p-value = 8E-6 ;OR = 1.05). 0.4 Genome-wide association study of schizophrenia in Ashkenazi Jews. NCRV0000003722 20152958 NONHSAT078997.2 rs1209523 ? N/A 2,029 african american individuals//7,428 european ancestry individuals; 1,571 african american individuals//3,825 european ancestry individuals EFO_0001360 N/A Associate Fasting plasma glucose rs1209523-? of NONHSAT078997.2 is significantly associated with the fasting plasma glucose by using GWAS analysis in 2,029 african american individuals//7,428 european ancestry individuals; 1,571 african american individuals//3,825 european ancestry individuals(p-value = 2E-11 ;OR = ?). 0.4 A weighted false discovery rate control procedure reveals alleles at FOXA2 that influence fasting glucose levels. NCRV0000000736 25751625 NONHSAT193973.1 rs1053338 G N/A 15,748 european ancestry cases//18,084 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls EFO_0000305 N/A Associate Breast cancer rs1053338-G of NONHSAT193973.1 is significantly associated with the breast cancer by using GWAS analysis in 15,748 european ancestry cases//18,084 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls(p-value = 9E-9 ;OR = 1.08). 0.4 Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer. NCRV0000000747 24529757 NONHSAT196210.1 rs11921451 ? N/A 250 han chinese ancestry cases//250 han chinese ancestry controls EFO_0001357 N/A Associate Amyotrophic lateral sclerosis (sporadic) rs11921451-? of NONHSAT196210.1 is significantly associated with the amyotrophic lateral sclerosis (sporadic) by using GWAS analysis in 250 han chinese ancestry cases//250 han chinese ancestry controls(p-value = 5E-6 ;OR = ?). 0.4 Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations. NCRV0000000805 27863252 NONHSAT211335.1 rs2451279 G N/A 170,702 european ancestry individuals EFO_0004833 N/A Associate Neutrophil count rs2451279-G of NONHSAT211335.1 is significantly associated with the neutrophil count by using GWAS analysis in 170,702 european ancestry individuals(p-value = 2E-12 ;OR = 0.02636221). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003366 24322204 NONHSAT206096.1 rs147721431 ? N/A 388 european ancestry cases//1,020 european ancestry controls EFO_0000289 N/A Associate Bipolar disorder (body mass index interaction) rs147721431-? of NONHSAT206096.1 is significantly associated with the bipolar disorder (body mass index interaction) by using GWAS analysis in 388 european ancestry cases//1,020 european ancestry controls(p-value = 1E-6 ;OR = ?). 0.4 Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2. NCRV0000000992 29228715 NONHSAT000998.2 rs11803759 ? N/A 978 austrian ancestry cases//4,294 european ancestry controls EFO_0005842 N/A Associate Colorectal cancer rs11803759-? of NONHSAT000998.2 is significantly associated with the colorectal cancer by using GWAS analysis in 978 austrian ancestry cases//4,294 european ancestry controls(p-value = 6E-6 ;OR = 1.851). 0.4 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas. NCRV0000000407 21102462 NONHSAT044219.2 rs3743266 C N/A 86,142 european ancestry female individuals//557 old order amish (founder/genetic isolate) female individuals//1,103 erasmus rucphen (founder/genetic isolate) female individuals; up to 12,813 european ancestry female individuals//910 val borbera (founder/genetic isolate) female individuals//348 orcadian (founder/genetic isolate) female individuals//338 friuli venezia giulia (founder/genetic isolate) female individuals//322 carlantino (founder/genetic/isolate) female individuals EFO_0004703 N/A Associate Menarche (age at onset) rs3743266-C of NONHSAT044219.2 is significantly associated with the menarche (age at onset) by using GWAS analysis in 86,142 european ancestry female individuals//557 old order amish (founder/genetic isolate) female individuals//1,103 erasmus rucphen (founder/genetic isolate) female individuals; up to 12,813 european ancestry female individuals//910 val borbera (founder/genetic isolate) female individuals//348 orcadian (founder/genetic isolate) female individuals//338 friuli venezia giulia (founder/genetic isolate) female individuals//322 carlantino (founder/genetic/isolate) female individuals(p-value = 8E-7 ;OR = 2.0). 0.4 Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. NCRV0000000871 25461247 NONHSAT088979.2 rs7623430 G N/A up 346 european ancestry individuals//up to 265 black individuals//up to 175 hispanic individuals EFO_0000180 abacavir-containing treatment Associate Response to abacavir-containing treatment in hiv-1 infection (virologic failure) rs7623430-G of NONHSAT088979.2 is significantly associated with the response to abacavir-containing treatment in hiv-1 infection (virologic failure) by using GWAS analysis in up 346 european ancestry individuals//up to 265 black individuals//up to 175 hispanic individuals(p-value = 7E-6 ;OR = 3.03). 0.4 Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols. NCRV0000000929 28394258 NONHSAT184590.1 rs1447563 C N/A 21,852 european ancestry individuals; 14,787 european ancestry individuals EFO_0008204 N/A Associate Peak velocity of the mitral a-wave rs1447563-C of NONHSAT184590.1 is significantly associated with the peak velocity of the mitral a-wave by using GWAS analysis in 21,852 european ancestry individuals; 14,787 european ancestry individuals(p-value = 3E-7 ;OR = 0.586). 0.4 Large-scale genome-wide analysis identifies genetic variants associated with cardiac structure and function. NCRV0000001668 26634245 NONHSAT047577.2 rs16969968NR ? N/A 6,659 european ancestry current and former smoker individuals EFO_0003892 N/A Associate Pre bronchodilator fev1 rs16969968NR-? of NONHSAT047577.2 is significantly associated with the pre bronchodilator fev1 by using GWAS analysis in 6,659 european ancestry current and former smoker individuals(p-value = 2E-9 ;OR = 0.07994). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000002459 25256182 NONHSAT130433.2 rs10733376 ? N/A 2,617 european ancestry cases//2,548 european ancestry controls; 1,516 european ancestry cases//5,321 european ancestry controls EFO_0003870 N/A Associate Intracranial aneurysm rs10733376-? of NONHSAT130433.2 is significantly associated with the intracranial aneurysm by using GWAS analysis in 2,617 european ancestry cases//2,548 european ancestry controls; 1,516 european ancestry cases//5,321 european ancestry controls(p-value = 4E-12 ;OR = 1.34). 0.4 Genome-wide association study of intracranial aneurysm identifies a new association on chromosome 7. NCRV0000002995 27117709 NONHSAT159884.1 rs11820646 ? N/A 4,939 european ancestry estrogen receptor-negative cases//14,352 european ancestry controls; 7,333 european ancestry estrogen receptor-negative cases//7,797 european ancestry brca1 mutation carrier cases//7,455 european ancestry brca1 mutation carrier controls//42,468 european ancestry controls EFO_0000305 N/A Associate Breast cancer rs11820646-? of NONHSAT159884.1 is significantly associated with the breast cancer by using GWAS analysis in 4,939 european ancestry estrogen receptor-negative cases//14,352 european ancestry controls; 7,333 european ancestry estrogen receptor-negative cases//7,797 european ancestry brca1 mutation carrier cases//7,455 european ancestry brca1 mutation carrier controls//42,468 european ancestry controls(p-value = 9E-6 ;OR = 1.0752687). 0.4 Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer. NCRV0000003059 29077507 NONHSAT187338.1 rs35520189 C N/A 677 african american women//544 african american men//115 asian women//113 asian men//1,825 european ancestry women//3,902 european ancestry men// 7,492 hispanic women//5,065 hispanic men EFO_0008568 N/A Associate Obstructive sleep apnea trait (apnea hypopnea index) rs35520189-C of NONHSAT187338.1 is significantly associated with the obstructive sleep apnea trait (apnea hypopnea index) by using GWAS analysis in 677 african american women//544 african american men//115 asian women//113 asian men//1,825 european ancestry women//3,902 european ancestry men// 7,492 hispanic women//5,065 hispanic men(p-value = 6E-7 ;OR = 0.052). 0.4 Multiethnic Meta-Analysis Identifies RAI1 as a Possible Obstructive Sleep Apnea-related Quantitative Trait Locus in Men. NCRV0000002646 29058716 NONHSAT182525.1 rs4849887 C N/A 14,135 european ancestry cases//58,126 european ancestry controls; 7,333 european ancestry cases//42,468 european ancestry controls EFO_1000650 N/A Associate Breast cancer (estrogen-receptor negative) rs4849887-C of NONHSAT182525.1 is significantly associated with the breast cancer (estrogen-receptor negative) by using GWAS analysis in 14,135 european ancestry cases//58,126 european ancestry controls; 7,333 european ancestry cases//42,468 european ancestry controls(p-value = 4E-9 ;OR = 1.1764705). 0.4 Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer. NCRV0000002604 19915572 NONHSAT003779.2 rs11209026 ? N/A 2,361 european ancestry cases//5,417 european ancestry controls; 2,321 european ancestry cases//4,818 european ancestry controls EFO_0000729 N/A Associate Ulcerative colitis rs11209026-? of NONHSAT003779.2 is significantly associated with the ulcerative colitis by using GWAS analysis in 2,361 european ancestry cases//5,417 european ancestry controls; 2,321 european ancestry cases//4,818 european ancestry controls(p-value = 3E-10 ;OR = ?). 0.4 Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region. NCRV0000000865 24882193 NONHSAT211650.1 rs13233490 ? N/A 206 european ancestry cases with binge eating behavior//723 european ancestry cases without binge eating behavior//1,034 european ancestry controls; 70 european ancestry cases with binge eating behavior//758 european ancestry cases without binge eating behavior//832 european ancestry controls EFO_0000289 N/A Associate Binge eating behaviour and bipolar disorder rs13233490-? of NONHSAT211650.1 is significantly associated with the binge eating behaviour and bipolar disorder by using GWAS analysis in 206 european ancestry cases with binge eating behavior//723 european ancestry cases without binge eating behavior//1,034 european ancestry controls; 70 european ancestry cases with binge eating behavior//758 european ancestry cases without binge eating behavior//832 european ancestry controls(p-value = 4E-6 ;OR = 4.89). 0.4 Bipolar disorder with comorbid binge eating history: a genome-wide association study implicates APOB. NCRV0000000849 20877300 NONHSAT221912.1 rs11143230 C N/A 706 european ancestry individuals EFO_0004320 N/A Associate Suicidal ideation rs11143230-C of NONHSAT221912.1 is significantly associated with the suicidal ideation by using GWAS analysis in 706 european ancestry individuals(p-value = 7E-6 ;OR = 2.22). 0.4 Genome-wide association study of increasing suicidal ideation during antidepressant treatment in the GENDEP project. NCRV0000000802 29059683 NONHSAT206998.1 rs71557345 A N/A 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls EFO_0000305 N/A Associate Breast cancer rs71557345-A of NONHSAT206998.1 is significantly associated with the breast cancer by using GWAS analysis in 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls(p-value = 4E-10 ;OR = 1.0869565). 0.4 Association analysis identifies 65 new breast cancer risk loci. NCRV0000002766 24144296 NONHSAT196769.1 rs6789327 A N/A 12,531 european ancestry individuals; 8,216 asian ancestry individuals EFO_0005318 N/A Associate Axial length rs6789327-A of NONHSAT196769.1 is significantly associated with the axial length by using GWAS analysis in 12,531 european ancestry individuals; 8,216 asian ancestry individuals(p-value = 3E-7 ;OR = 3.7647). 0.4 Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error. NCRV0000003779 26752167 NONHSAT201987.1 rs11726022 G N/A 1,083 african american individuals; 1,427 african american individuals EFO_0000319 cigarette smoking interaction Associate Systolic blood pressure (cigarette smoking interaction) rs11726022-G of NONHSAT201987.1 is significantly associated with the systolic blood pressure (cigarette smoking interaction) by using GWAS analysis in 1,083 african american individuals; 1,427 african american individuals(p-value = 2E-6 ;OR = ?). 0.4 A Genome-wide study of blood pressure in African Americans accounting for gene-smoking interaction. NCRV0000000527 23417110 NONHSAT208983.1 rs16899524 C N/A 6,728 european ancestry individuals; EFO_0005197 N/A Associate Beta-2 microglubulin plasma levels rs16899524-C of NONHSAT208983.1 is significantly associated with the beta-2 microglubulin plasma levels by using GWAS analysis in 6,728 european ancestry individuals; (p-value = 1E-8 ;OR = 0.04). 0.4 Genome-wide association study identified the human leukocyte antigen region as a novel locus for plasma beta-2 microglobulin. NCRV0000003964 28135244 NONHSAT195446.1 rs13099220 T N/A 140,886 european ancestry individuals; 190,318 european ancestry individuals EFO_0006336 N/A Associate Diastolic blood pressure rs13099220-T of NONHSAT195446.1 is significantly associated with the diastolic blood pressure by using GWAS analysis in 140,886 european ancestry individuals; 190,318 european ancestry individuals(p-value = 5E-6 ;OR = 0.1505). 0.4 Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk. NCRV0000001980 27863252 NONHSAT184647.1 rs2580764 A N/A 164,454 european ancestry individuals EFO_0004584 N/A Associate Mean platelet volume rs2580764-A of NONHSAT184647.1 is significantly associated with the mean platelet volume by using GWAS analysis in 164,454 european ancestry individuals(p-value = 2E-11 ;OR = 0.02509536). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001697 27863252 NONHSAT168044.1 rs9555596 C N/A 170,494 european ancestry individuals EFO_0007989 N/A Associate Monocyte percentage of white cells rs9555596-C of NONHSAT168044.1 is significantly associated with the monocyte percentage of white cells by using GWAS analysis in 170,494 european ancestry individuals(p-value = 7E-13 ;OR = 0.02645999). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002799 22449649 NONHSAT213728.1 rs7792596 ? N/A 656 european ancestry individuals from adhd families EFO_0004337 N/A Associate Intelligence rs7792596-? of NONHSAT213728.1 is significantly associated with the intelligence by using GWAS analysis in 656 european ancestry individuals from adhd families(p-value = 6E-7 ;OR = 4.13). 0.4 Genome-wide association study of intelligence: additive effects of novel brain expressed genes. NCRV0000003471 21829377 NONHSAT180792.1 rs12459897 T N/A 8,866 european ancestry individuals EFO_0000319 N/A Associate Plasma omega-3 polyunsaturated fatty acid level (eicosapentaenoic acid) rs12459897-T of NONHSAT180792.1 is significantly associated with the plasma omega-3 polyunsaturated fatty acid level (eicosapentaenoic acid) by using GWAS analysis in 8,866 european ancestry individuals(p-value = 8E-7 ;OR = 0.09). 0.4 Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium. NCRV0000000833 28031287 NONHSAT175132.1 rs854625 ? N/A 133 japanese ancestry individuals. EFO_0005772 N/A Associate Cerebrospinal fluid biomarker levels rs854625-? of NONHSAT175132.1 is significantly associated with the cerebrospinal fluid biomarker levels by using GWAS analysis in 133 japanese ancestry individuals.(p-value = 7E-10 ;OR = ?). 0.4 Genome-wide quantitative trait loci mapping of the human cerebrospinal fluid proteome. NCRV0000002268 19838195 NONHSAT154261.1 rs2205960 T N/A 1,310 european ancestry cases//7,859 european ancestry controls; 1,963 european ancestry cases//4,329 european ancestry controls EFO_0002690 N/A Associate Systemic lupus erythematosus rs2205960-T of NONHSAT154261.1 is significantly associated with the systemic lupus erythematosus by using GWAS analysis in 1,310 european ancestry cases//7,859 european ancestry controls; 1,963 european ancestry cases//4,329 european ancestry controls(p-value = 6E-9 ;OR = 1.22). 0.4 A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus. NCRV0000003455 26252872 NONHSAT149126.1 rs74852193 G N/A 472 european ancestry cases//47 cases HP_0100543 N/A Associate Cognitive decline rate in late mild cognitive impairment rs74852193-G of NONHSAT149126.1 is significantly associated with the cognitive decline rate in late mild cognitive impairment by using GWAS analysis in 472 european ancestry cases//47 cases(p-value = 7E-8 ;OR = 0.2625). 0.4 Variations in the FRA10AC1 Fragile Site and 15q21 Are Associated with Cerebrospinal Fluid Abeta1-42 Level. NCRV0000002443 28441456 NONHSAT194003.1 rs17072075 C N/A 2,187 european ancestry individuals EFO_0007843 N/A Associate Facial morphology (factor 10//width of nasal floor) rs17072075-C of NONHSAT194003.1 is significantly associated with the facial morphology (factor 10//width of nasal floor) by using GWAS analysis in 2,187 european ancestry individuals(p-value = 6E-7 ;OR = 0.2235). 0.4 Genome-wide association study of facial morphology reveals novel associations with FREM1 and PARK2. NCRV0000002209 26053186 NONHSAT068060.2 rs79546472 ? N/A 362 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//438 european ancestry current smoker individuals//449 latino current smoker individuals//704 japanese ancestry current smoker individuals EFO_0001071 in smokers Associate 3-hydroxypropylmercapturic acid levels in smokers rs79546472-? of NONHSAT068060.2 is significantly associated with the 3-hydroxypropylmercapturic acid levels in smokers by using GWAS analysis in 362 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//438 european ancestry current smoker individuals//449 latino current smoker individuals//704 japanese ancestry current smoker individuals(p-value = 1E-6 ;OR = 0.375). 0.4 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. NCRV0000003987 27863252 NONHSAT219162.1 rs3780378 T N/A 172,378 european ancestry individuals EFO_0007991 N/A Associate Eosinophil percentage of white cells rs3780378-T of NONHSAT219162.1 is significantly associated with the eosinophil percentage of white cells by using GWAS analysis in 172,378 european ancestry individuals(p-value = 5E-13 ;OR = 0.02570145). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001210 24836286 NONHSAT216396.1 rs6983267 G N/A 2,098 east asian ancestry cases//6,172 east asian ancestry controls; 12,865 east asian ancestry cases//25,773 east asian ancestry controls//up to 16,984 european ancestry cases//up to 18,262 european ancestry controls EFO_0005842 N/A Associate Colorectal cancer rs6983267-G of NONHSAT216396.1 is significantly associated with the colorectal cancer by using GWAS analysis in 2,098 east asian ancestry cases//6,172 east asian ancestry controls; 12,865 east asian ancestry cases//25,773 east asian ancestry controls//up to 16,984 european ancestry cases//up to 18,262 european ancestry controls(p-value = 5E-14 ;OR = 1.14). 0.4 Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk. NCRV0000003133 23544013 NONHSAT211293.1 rs2046210 C N/A 1,426 european ancestry cases//1,301 european ancestry controls; 6,031 european ancestry cases//5,933 european ancestry controls EFO_0000305 N/A Associate Breast cancer in brca1 mutation carriers rs2046210-C of NONHSAT211293.1 is significantly associated with the breast cancer in brca1 mutation carriers by using GWAS analysis in 1,426 european ancestry cases//1,301 european ancestry controls; 6,031 european ancestry cases//5,933 european ancestry controls(p-value = 5E-9 ;OR = 1.28). 0.4 Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. NCRV0000002164 27327535 NONHSAT208975.1 rs2524069 T N/A 502 french ancestry individuals; EFO_0003784 N/A Associate Severity of facial solar lentigines rs2524069-T of NONHSAT208975.1 is significantly associated with the severity of facial solar lentigines by using GWAS analysis in 502 french ancestry individuals; (p-value = 3E-7 ;OR = ?). 0.4 A genome-wide association study in Caucasian women suggests the involvement of HLA genes in the severity of facial solar lentigines. NCRV0000003218 27863252 NONHSAT219162.1 rs3780378 T N/A 170,672 european ancestry individuals EFO_0007994 N/A Associate Neutrophil percentage of granulocytes rs3780378-T of NONHSAT219162.1 is significantly associated with the neutrophil percentage of granulocytes by using GWAS analysis in 170,672 european ancestry individuals(p-value = 2E-10 ;OR = 0.0227039). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003909 27863252 NONHSAT219162.1 rs3780378 T N/A 170,536 european ancestry individuals EFO_0007996 N/A Associate Eosinophil percentage of granulocytes rs3780378-T of NONHSAT219162.1 is significantly associated with the eosinophil percentage of granulocytes by using GWAS analysis in 170,536 european ancestry individuals(p-value = 4E-11 ;OR = 0.02366018). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003968 28753643 NONHSAT201595.1 rs192427471 T N/A 1,318 european//african american//asian and other ancestry darapladib-treated cases//1,440 european//african american//asian and other ancestry placebo-treated cases EFO_0005672 darapladib treatment interaction Associate Major coronary event in cardiovascular disease (time to event) (darapladib treatment interaction) rs192427471-T of NONHSAT201595.1 is significantly associated with the major coronary event in cardiovascular disease (time to event) (darapladib treatment interaction) by using GWAS analysis in 1,318 european//african american//asian and other ancestry darapladib-treated cases//1,440 european//african american//asian and other ancestry placebo-treated cases(p-value = 2E-6 ;OR = ?). 0.4 Pharmacogenetic meta-analysis of baseline risk factors, pharmacodynamic, efficacy and tolerability endpoints from two large global cardiovascular outcomes trials for darapladib. NCRV0000002965 25231870 NONHSAT129657.2 rs4875053 G N/A up to 182,413 european ancestry females EFO_0004703 N/A Associate Menarche (age at onset) rs4875053-G of NONHSAT129657.2 is significantly associated with the menarche (age at onset) by using GWAS analysis in up to 182,413 european ancestry females(p-value = 1E-8 ;OR = 0.03). 0.4 Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. NCRV0000000579 26192919 NONHSAT199814.1 rs4692386 G N/A 12,882 european ancestry cases//21,770 european ancestry controls; 25,273 european ancestry cases//26,715 european ancestry controls//548 iranian ancestry cases//342 iranian ancestry control//1,423 indian ancestry cases//990 indian ancestry controls//2,824 east asian ancestry cases//3,719 east asian ancestry controls EFO_0003767 N/A Associate Inflammatory bowel disease rs4692386-G of NONHSAT199814.1 is significantly associated with the inflammatory bowel disease by using GWAS analysis in 12,882 european ancestry cases//21,770 european ancestry controls; 25,273 european ancestry cases//26,715 european ancestry controls//548 iranian ancestry cases//342 iranian ancestry control//1,423 indian ancestry cases//990 indian ancestry controls//2,824 east asian ancestry cases//3,719 east asian ancestry controls(p-value = 1E-8 ;OR = 1.0596887). 0.4 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. NCRV0000003888 18369459 NONHSAT207105.1 rs2395029 C N/A 218 european ancestry cases//519 european ancestry controls; 1,153 european ancestry cases//1,217 european ancestry controls EFO_0000676 N/A Associate Psoriasis rs2395029-C of NONHSAT207105.1 is significantly associated with the psoriasis by using GWAS analysis in 218 european ancestry cases//519 european ancestry controls; 1,153 european ancestry cases//1,217 european ancestry controls(p-value = 2E-26 ;OR = 4.1). 0.4 A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci. NCRV0000003956 25784220 NONHSAT190171.1 rs6137473 G N/A 371 european ancestry female cases//76 european ancestry male cases//533 european ancestry female controls//204 european ancestry male controls; 715 european//black//hispanic and other ancestry trios//216 european ancestry cases//336 european ancestry controls//1,050 japanese ancestry female cases//1,474 japanese ancestry female controls EFO_0005423 N/A Associate Adolescent idiopathic scoliosis rs6137473-G of NONHSAT190171.1 is significantly associated with the adolescent idiopathic scoliosis by using GWAS analysis in 371 european ancestry female cases//76 european ancestry male cases//533 european ancestry female controls//204 european ancestry male controls; 715 european//black//hispanic and other ancestry trios//216 european ancestry cases//336 european ancestry controls//1,050 japanese ancestry female cases//1,474 japanese ancestry female controls(p-value = 3E-8 ;OR = 1.3). 0.4 A PAX1 enhancer locus is associated with susceptibility to idiopathic scoliosis in females. NCRV0000001346 27863252 NONHSAT170425.1 rs2224234 C N/A 171,643 european ancestry individuals EFO_0004587 N/A Associate Lymphocyte counts rs2224234-C of NONHSAT170425.1 is significantly associated with the lymphocyte counts by using GWAS analysis in 171,643 european ancestry individuals(p-value = 5E-15 ;OR = 0.0355251). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000895 28394258 NONHSAT220984.1 rs10820912 T N/A 30,201 european ancestry individuals EFO_0003777 N/A Associate Left atrial antero-posterior diameter rs10820912-T of NONHSAT220984.1 is significantly associated with the left atrial antero-posterior diameter by using GWAS analysis in 30,201 european ancestry individuals(p-value = 5E-6 ;OR = 0.0199). 0.4 Large-scale genome-wide analysis identifies genetic variants associated with cardiac structure and function. NCRV0000001141 20639394 NONHSAT149925.1 rs2501324 ? N/A 8,841 korean ancestry individuals; 1,096 korean ancestry individuals EFO_0004570 N/A Associate Bilirubin levels rs2501324-? of NONHSAT149925.1 is significantly associated with the bilirubin levels by using GWAS analysis in 8,841 korean ancestry individuals; 1,096 korean ancestry individuals(p-value = 2E-10 ;OR = 0.14). 0.4 Genome-wide association of serum bilirubin levels in Korean population. NCRV0000001958 26545630 NONHSAT213261.1 rs57375391 ? N/A 300 alzheimer's disease cases//373 controls EFO_0000249 N/A Associate Cerebrospinal fluid clusterin levels rs57375391-? of NONHSAT213261.1 is significantly associated with the cerebrospinal fluid clusterin levels by using GWAS analysis in 300 alzheimer's disease cases//373 controls(p-value = 2E-6 ;OR = 0.497). 0.4 A potential endophenotype for Alzheimer's disease: cerebrospinal fluid clusterin. NCRV0000001423 23548203 NONHSAT023550.2 rs1126809 G N/A 9,283 european ancestry individuals; 4,236 european ancestry individuals EFO_0003958 N/A Associate Sunburns rs1126809-G of NONHSAT023550.2 is significantly associated with the sunburns by using GWAS analysis in 9,283 european ancestry individuals; 4,236 european ancestry individuals(p-value = 2E-8 ;OR = 0.6). 0.4 Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans. NCRV0000001689 28928442 NONHSAT067101.2 rs681343 C N/A 46,936 european ancestry cases//74,874 european ancestry controls EFO_0007904 N/A Associate Childhood ear infection rs681343-C of NONHSAT067101.2 is significantly associated with the childhood ear infection by using GWAS analysis in 46,936 european ancestry cases//74,874 european ancestry controls(p-value = 4E-30 ;OR = 1.11). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. NCRV0000003615 27577874 NONHSAT037641.2 rs12127 T N/A up to 13,031 african americans individuals//40,407 european ancestry individuals EFO_0003777 N/A Associate Qrs duration rs12127-T of NONHSAT037641.2 is significantly associated with the qrs duration by using GWAS analysis in up to 13,031 african americans individuals//40,407 european ancestry individuals(p-value = 2E-10 ;OR = 0.49). 0.4 Fine-mapping, novel loci identification, and SNP association transferability in a genome-wide association study of QRS duration in African Americans. NCRV0000003172 27863252 NONHSAT107130.2 rs138692864 A N/A 171,529 european ancestry individuals EFO_0005192 N/A Associate Red cell distribution width rs138692864-A of NONHSAT107130.2 is significantly associated with the red cell distribution width by using GWAS analysis in 171,529 european ancestry individuals(p-value = 3E-10 ;OR = 0.1671573). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002889 28928442 NONHSAT210379.1 rs3130844 ? N/A 35,000 european ancestry cases//33,478 european ancestry controls EFO_0008413 N/A Associate Urinary tract infection frequency rs3130844-? of NONHSAT210379.1 is significantly associated with the urinary tract infection frequency by using GWAS analysis in 35,000 european ancestry cases//33,478 european ancestry controls(p-value = 7E-6 ;OR = 0.0564). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. NCRV0000002877 27863252 NONHSAT168044.1 rs9555596 C N/A 169,545 european ancestry individuals EFO_0007997 N/A Associate Granulocyte percentage of myeloid white cells rs9555596-C of NONHSAT168044.1 is significantly associated with the granulocyte percentage of myeloid white cells by using GWAS analysis in 169,545 european ancestry individuals(p-value = 3E-11 ;OR = 0.02454555). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000021 23128233 NONHSAT203343.1 rs6863411 T N/A 12,924 european ancestry cases//21,442 european ancestry controls; 25,683 european ancestry cases//17,015 european ancestry controls EFO_0003767 N/A Associate Inflammatory bowel disease rs6863411-T of NONHSAT203343.1 is significantly associated with the inflammatory bowel disease by using GWAS analysis in 12,924 european ancestry cases//21,442 european ancestry controls; 25,683 european ancestry cases//17,015 european ancestry controls(p-value = 4E-14 ;OR = 1.089). 0.4 Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. NCRV0000002660 23377640 NONHSAT154687.1 rs12410462 A N/A up to 2,256 european ancestry cases EFO_0003761 N/A Associate Major depressive disorder rs12410462-A of NONHSAT154687.1 is significantly associated with the major depressive disorder by using GWAS analysis in up to 2,256 european ancestry cases(p-value = 4E-7 ;OR = 1.259). 0.4 Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies. NCRV0000003606 28443625 NONHSAT208974.1 rs1049281 C N/A 95,362 european ancestry women//62,085 european ancestry men//5,829 european ancestry individuals//10,500 african american/afro-caribbean ancestry women//2,706 african american/afro-caribbean ancestry men//1,030 indian asian ancestry women//7,648 indian asian ancestry men//1,793 filipino ancestry women//2,944 hispanic/latino ancestry women//1,764 hispanic/latino ancestry men; 21,496 european ancestry women//24,385 european ancestry men//118,364 european ancestry individuals//2,326 african american/afro-caribbean ancestry women//855 african american/afro-caribbean ancestry men EFO_0007788 adjusted for smoking behaviour Associate Waist-to-hip ratio adjusted for bmi (adjusted for smoking behaviour) rs1049281-C of NONHSAT208974.1 is significantly associated with the waist-to-hip ratio adjusted for bmi (adjusted for smoking behaviour) by using GWAS analysis in 95,362 european ancestry women//62,085 european ancestry men//5,829 european ancestry individuals//10,500 african american/afro-caribbean ancestry women//2,706 african american/afro-caribbean ancestry men//1,030 indian asian ancestry women//7,648 indian asian ancestry men//1,793 filipino ancestry women//2,944 hispanic/latino ancestry women//1,764 hispanic/latino ancestry men; 21,496 european ancestry women//24,385 european ancestry men//118,364 european ancestry individuals//2,326 african american/afro-caribbean ancestry women//855 african american/afro-caribbean ancestry men(p-value = 1E-18 ;OR = 0.026). 0.4 Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. NCRV0000002511 23527680 NONHSAT203189.1 rs1515641 A N/A 1,851 individuals; 155 individuals EFO_0003888 N/A Associate Attention deficit hyperactivity disorder (hyperactivity-impulsivity symptoms) rs1515641-A of NONHSAT203189.1 is significantly associated with the attention deficit hyperactivity disorder (hyperactivity-impulsivity symptoms) by using GWAS analysis in 1,851 individuals; 155 individuals(p-value = 4E-6 ;OR = ?). 0.4 Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits. NCRV0000002767 29213071 NONHSAT186323.1 rs144065589 T N/A 15,997 hispanic/latino individuals EFO_0004278 N/A Associate Qt interval rs144065589-T of NONHSAT186323.1 is significantly associated with the qt interval by using GWAS analysis in 15,997 hispanic/latino individuals(p-value = 2E-6 ;OR = 13.26). 0.4 GWAS of the electrocardiographic QT interval in Hispanics/Latinos generalizes previously identified loci and identifies population-specific signals. NCRV0000000561 18849991 NONHSAT189445.1 rs1160312 A N/A 578 european ancestry cases//547 european ancestry controls; 1,351 european ancestry cases//2,485 european ancestry controls EFO_0004191 N/A Associate Male-pattern baldness rs1160312-A of NONHSAT189445.1 is significantly associated with the male-pattern baldness by using GWAS analysis in 578 european ancestry cases//547 european ancestry controls; 1,351 european ancestry cases//2,485 european ancestry controls(p-value = 1E-14 ;OR = 1.6). 0.4 Male-pattern baldness susceptibility locus at 20p11. NCRV0000002779 25673413 NONHSAT164607.1 rs11170468 A N/A up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals EFO_0001073 N/A Associate Body mass index rs11170468-A of NONHSAT164607.1 is significantly associated with the body mass index by using GWAS analysis in up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals(p-value = 7E-8 ;OR = 0.02). 0.4 Genetic studies of body mass index yield new insights for obesity biology. NCRV0000000296 28869590 NONHSAT130430.2 rs944801 C N/A 6,353 south asian ancestry cases//7,179 south asian ancestry controls//3,871 european ancestry cases//16,427 european ancestry controls//34,840 cases//114,981 controls; 7,888 south asian ancestry cases//20,679 south asian ancestry controls//387 european ancestry cases//2,092 european ancestry controls//19,998 east asian ancestry cases//30,983 east asian ancestry controls EFO_0001360 N/A Associate Type 2 diabetes rs944801-C of NONHSAT130430.2 is significantly associated with the type 2 diabetes by using GWAS analysis in 6,353 south asian ancestry cases//7,179 south asian ancestry controls//3,871 european ancestry cases//16,427 european ancestry controls//34,840 cases//114,981 controls; 7,888 south asian ancestry cases//20,679 south asian ancestry controls//387 european ancestry cases//2,092 european ancestry controls//19,998 east asian ancestry cases//30,983 east asian ancestry controls(p-value = 1E-11 ;OR = 0.0707). 0.4 Identification of new susceptibility loci for type 2 diabetes and shared etiological pathways with coronary heart disease. NCRV0000001637 21804548 NONHSAT207122.1 rs3117098 G N/A 1,532 japanese ancestry cases//3,304 japanese ancestry controls; 5,639 japanese ancestry cases//24,608 japanese ancestry controls EFO_0000270 N/A Associate Asthma rs3117098-G of NONHSAT207122.1 is significantly associated with the asthma by using GWAS analysis in 1,532 japanese ancestry cases//3,304 japanese ancestry controls; 5,639 japanese ancestry cases//24,608 japanese ancestry controls(p-value = 5E-12 ;OR = 1.16). 0.4 Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population. NCRV0000001287 28441456 NONHSAT155774.1 rs116924979 T N/A 2,187 european ancestry individuals EFO_0007845 N/A Associate Facial morphology (factor 17//height of vermillion upper lip) rs116924979-T of NONHSAT155774.1 is significantly associated with the facial morphology (factor 17//height of vermillion upper lip) by using GWAS analysis in 2,187 european ancestry individuals(p-value = 5E-6 ;OR = 0.5424). 0.4 Genome-wide association study of facial morphology reveals novel associations with FREM1 and PARK2. NCRV0000002343 27863252 NONHSAT160374.1 rs174544 A N/A 170,494 european ancestry individuals EFO_0007989 N/A Associate Monocyte percentage of white cells rs174544-A of NONHSAT160374.1 is significantly associated with the monocyte percentage of white cells by using GWAS analysis in 170,494 european ancestry individuals(p-value = 3E-15 ;OR = 0.03037582). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001680 28753643 NONHSAT215498.1 rs328 G N/A 22,156 european//asian//african//arabic//native american//pacific islander and other ancestry EFO_0000319 N/A Associate Lipoprotein phospholipase a2 activity in cardiovascular disease rs328-G of NONHSAT215498.1 is significantly associated with the lipoprotein phospholipase a2 activity in cardiovascular disease by using GWAS analysis in 22,156 european//asian//african//arabic//native american//pacific islander and other ancestry(p-value = 2E-6 ;OR = 3.7). 0.4 Pharmacogenetic meta-analysis of baseline risk factors, pharmacodynamic, efficacy and tolerability endpoints from two large global cardiovascular outcomes trials for darapladib. NCRV0000001935 28199695 NONHSAT221979.1 rs13291799 G N/A 41,355 european ancestry men and 43,369 european ancestry women EFO_0008377 N/A Associate Itch intensity from mosquito bite adjusted by bite size rs13291799-G of NONHSAT221979.1 is significantly associated with the itch intensity from mosquito bite adjusted by bite size by using GWAS analysis in 41,355 european ancestry men and 43,369 european ancestry women(p-value = 1E-6 ;OR = 0.0214165). 0.4 GWAS of self-reported mosquito bite size, itch intensity and attractiveness to mosquitoes implicates immune-related predisposition loci. NCRV0000003551 27989323 NONHSAT193808.1 rs137933720 C N/A 8,243 finnish ancestry individuals EFO_0005140 N/A Associate Macrophage inflammatory protein 1b levels rs137933720-C of NONHSAT193808.1 is significantly associated with the macrophage inflammatory protein 1b levels by using GWAS analysis in 8,243 finnish ancestry individuals(p-value = 4E-8 ;OR = 0.2566). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. NCRV0000000396 28240269 NONHSAT220344.1 rs10858300 T N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008134 N/A Associate Blood protein levels rs10858300-T of NONHSAT220344.1 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 6E-17 ;OR = 0.4086). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. NCRV0000001197 26634245 NONHSAT162111.1 rs11183289 T N/A 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases EFO_0003892 N/A Associate Post bronchodilator fev1 in copd rs11183289-T of NONHSAT162111.1 is significantly associated with the post bronchodilator fev1 in copd by using GWAS analysis in 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases(p-value = 2E-6 ;OR = 0.142). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000003192 26631737 NONHSAT013865.2 rs12764441 T N/A up to 54,116 european ancestry cases HP_0012594 N/A Associate Microalbuminuria rs12764441-T of NONHSAT013865.2 is significantly associated with the microalbuminuria by using GWAS analysis in up to 54,116 european ancestry cases(p-value = 4E-6 ;OR = 0.1). 0.4 Genome-wide Association Studies Identify Genetic Loci Associated With Albuminuria in Diabetes. NCRV0000001132 25673412 NONHSAT197989.1 rs2098771 A N/A up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women EFO_0005093 adjusted for BMI Associate Hip circumference adjusted for bmi rs2098771-A of NONHSAT197989.1 is significantly associated with the hip circumference adjusted for bmi by using GWAS analysis in up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women(p-value = 4E-8 ;OR = 0.0224). 0.4 New genetic loci link adipose and insulin biology to body fat distribution. NCRV0000002930 26502338 NONHSAT017295.2 rs58688157 A N/A 5,201 european ancestry cases//9,066 european ancestry controls EFO_0002690 N/A Associate Systemic lupus erythematosus rs58688157-A of NONHSAT017295.2 is significantly associated with the systemic lupus erythematosus by using GWAS analysis in 5,201 european ancestry cases//9,066 european ancestry controls(p-value = 5E-13 ;OR = 1.24). 0.4 Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus. NCRV0000002541 28282560 NONHSAT004565.2 rs188301220 C N/A 7,189 european ancestry individuals EFO_0006501 N/A Associate Carotid plaque burden rs188301220-C of NONHSAT004565.2 is significantly associated with the carotid plaque burden by using GWAS analysis in 7,189 european ancestry individuals(p-value = 5E-6 ;OR = 0.5140511). 0.4 Genome-wide meta-analysis identifies novel loci of plaque burden in carotid artery. NCRV0000002798 19901119 NONHSAT161941.1 rs11045818 G N/A 315 european ancestry cases//73 african american cases//5 asian ancestry cases//247 cases GO_0097327 N/A Associate Methotrexate phramacokinetics (acute lymphoblastic leukemia) rs11045818-G of NONHSAT161941.1 is significantly associated with the methotrexate phramacokinetics (acute lymphoblastic leukemia) by using GWAS analysis in 315 european ancestry cases//73 african american cases//5 asian ancestry cases//247 cases(p-value = 7E-7 ;OR = 9.3). 0.4 Germline genetic variation in an organic anion transporter polypeptide associated with methotrexate pharmacokinetics and clinical effects. NCRV0000001877 20125193 NONHSAT188791.1 rs6017291 ? N/A up to 813 european ancestry individuals//up to 167 east asian ancestry individuals//up to 7 hispanic/latin american individuals//up to 74 south asian ancestry individuals EFO_0003926 N/A Associate Cognitive performance rs6017291-? of NONHSAT188791.1 is significantly associated with the cognitive performance by using GWAS analysis in up to 813 european ancestry individuals//up to 167 east asian ancestry individuals//up to 7 hispanic/latin american individuals//up to 74 south asian ancestry individuals(p-value = 6E-6 ;OR = ?). 0.4 Common genetic variation and performance on standardized cognitive tests. NCRV0000001468 24823311 NONHSAT091384.2 rs16829840 T N/A 8,631 european ancestry individuals EFO_0000319 N/A Associate Plasma omega-6 polyunsaturated fatty acid levels (arachidonic acid) rs16829840-T of NONHSAT091384.2 is significantly associated with the plasma omega-6 polyunsaturated fatty acid levels (arachidonic acid) by using GWAS analysis in 8,631 european ancestry individuals(p-value = 3E-8 ;OR = 0.46). 0.4 Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium. NCRV0000002119 25282103 NONHSAT162935.1 rs1809889 T N/A 253,288 european ancestry individuals; 80,067 european ancestry individuals EFO_0004339 N/A Associate Height rs1809889-T of NONHSAT162935.1 is significantly associated with the height by using GWAS analysis in 253,288 european ancestry individuals; 80,067 european ancestry individuals(p-value = 4E-21 ;OR = 0.032). 0.4 Defining the role of common variation in the genomic and biological architecture of adult human height. NCRV0000000615 29151059 NONHSAT150661.1 rs1151814 C N/A 5,075 bangladeshi ancestry individuals EFO_0004505 N/A Associate Telomere length rs1151814-C of NONHSAT150661.1 is significantly associated with the telomere length by using GWAS analysis in 5,075 bangladeshi ancestry individuals(p-value = 2E-6 ;OR = 0.16). 0.4 Genome-wide association study of telomere length among South Asians identifies a second RTEL1 association signal. NCRV0000000850 26053186 NONHSAT195182.1 rs147484948 ? N/A 362 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//438 european ancestry current smoker individuals//449 latino current smoker individuals//704 japanese ancestry current smoker individuals EFO_0001071 in smokers Associate 3-hydroxypropylmercapturic acid levels in smokers rs147484948-? of NONHSAT195182.1 is significantly associated with the 3-hydroxypropylmercapturic acid levels in smokers by using GWAS analysis in 362 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//438 european ancestry current smoker individuals//449 latino current smoker individuals//704 japanese ancestry current smoker individuals(p-value = 1E-7 ;OR = 1.2626). 0.4 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. NCRV0000001814 23620142 NONHSAT215502.1 rs1390943 G N/A 9,305 european ancestry individuals; EFO_0005243 N/A Associate Circulating myeloperoxidase levels (serum) rs1390943-G of NONHSAT215502.1 is significantly associated with the circulating myeloperoxidase levels (serum) by using GWAS analysis in 9,305 european ancestry individuals; (p-value = 9E-7 ;OR = 0.05). 0.4 Genome-wide and gene-centric analyses of circulating myeloperoxidase levels in the charge and care consortia. NCRV0000002203 29109912 NONHSAT184018.1 rs72776813 A N/A 377 east asian ancestry individuals EFO_0003949 N/A Associate Iris heterochromicity rs72776813-A of NONHSAT184018.1 is significantly associated with the iris heterochromicity by using GWAS analysis in 377 east asian ancestry individuals(p-value = 4E-7 ;OR = 0.481). 0.4 Genome-wide association study of pigmentary traits (skin and iris color) in individuals of East Asian ancestry. NCRV0000003747 25056061 NONHSAT202647.1 rs4391122 G N/A 32,405 european ancestry cases//42,221 european ancestry controls//1,235 european ancestry cases and 1,235 european ancestry controls from 1235 parent-offspring trios//1,836 east asian ancestry cases//3,383 east asian ancestry controls; 1,513 european ancestry cases//66,236 european ancestry controls EFO_0000692 N/A Associate Schizophrenia rs4391122-G of NONHSAT202647.1 is significantly associated with the schizophrenia by using GWAS analysis in 32,405 european ancestry cases//42,221 european ancestry controls//1,235 european ancestry cases and 1,235 european ancestry controls from 1235 parent-offspring trios//1,836 east asian ancestry cases//3,383 east asian ancestry controls; 1,513 european ancestry cases//66,236 european ancestry controls(p-value = 1E-14 ;OR = 1.0845987). 0.4 Biological insights from 108 schizophrenia-associated genetic loci. NCRV0000000180 23251661 NONHSAT182510.1 rs1374313 G N/A 815 hispanic children from 263 families EFO_0003939 N/A Associate Obesity-related traits rs1374313-G of NONHSAT182510.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 9E-7 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. NCRV0000003090 22558069 NONHSAT174827.1 rs3803800 A N/A up to 9,103 japanese ancestry individuals; up to 1,629 japanese ancestry individuals EFO_0004568 N/A Associate Non-albumin protein levels rs3803800-A of NONHSAT174827.1 is significantly associated with the non-albumin protein levels by using GWAS analysis in up to 9,103 japanese ancestry individuals; up to 1,629 japanese ancestry individuals(p-value = 7E-15 ;OR = 0.104). 0.4 Association of common variants in TNFRSF13B, TNFSF13, and ANXA3 with serum levels of non-albumin protein and immunoglobulin isotypes in Japanese. NCRV0000003393 23535729 NONHSAT022220.2 rs3903072 G N/A 10,052 european ancestry cases//12,575 european ancestry controls; 45,290 european ancestry cases//41,880 european ancestry controls EFO_0000305 N/A Associate Breast cancer rs3903072-G of NONHSAT022220.2 is significantly associated with the breast cancer by using GWAS analysis in 10,052 european ancestry cases//12,575 european ancestry controls; 45,290 european ancestry cases//41,880 european ancestry controls(p-value = 9E-12 ;OR = 1.05). 0.4 Large-scale genotyping identifies 41 new loci associated with breast cancer risk. NCRV0000003279 26634245 NONHSAT201292.1 rs114681481 T N/A 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases EFO_0003892 N/A Associate Post bronchodilator fev1 in copd rs114681481-T of NONHSAT201292.1 is significantly associated with the post bronchodilator fev1 in copd by using GWAS analysis in 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases(p-value = 3E-6 ;OR = 0.664). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000003419 23408906 NONHSAT211278.1 rs9497965 T N/A up to 14,459 european ancestry females//up to 10,936 european ancestry males//up to 433 old order amish females//up to 592 old order amish males EFO_1000627 N/A Associate Thyroid hormone levels rs9497965-T of NONHSAT211278.1 is significantly associated with the thyroid hormone levels by using GWAS analysis in up to 14,459 european ancestry females//up to 10,936 european ancestry males//up to 433 old order amish females//up to 592 old order amish males(p-value = 2E-8 ;OR = 0.051). 0.4 A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function. NCRV0000002880 27863252 NONHSAT010798.2 rs1339847 A N/A 170,763 european ancestry individuals EFO_0007986 N/A Associate High light scatter reticulocyte count rs1339847-A of NONHSAT010798.2 is significantly associated with the high light scatter reticulocyte count by using GWAS analysis in 170,763 european ancestry individuals(p-value = 1E-86 ;OR = 0.1128645). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002106 21533022 NONHSAT208858.1 rs9466056 G N/A 900 european ancestry female individuals with low hip bone mineral density//1,055 european ancestry female individuals with high hip bone mineral density; 20,898 european ancestry female individuals EFO_0003923 N/A Associate Bone mineral density rs9466056-G of NONHSAT208858.1 is significantly associated with the bone mineral density by using GWAS analysis in 900 european ancestry female individuals with low hip bone mineral density//1,055 european ancestry female individuals with high hip bone mineral density; 20,898 european ancestry female individuals(p-value = 4E-6 ;OR = 0.05). 0.4 Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk. NCRV0000002719 28158719 NONHSAT197521.1 rs6782812 G N/A up to 11,809 hispanic/latino american individuals; up to 7,200 hispanic/latino american individuals EFO_0005090 N/A Associate White blood cell count (basophil) rs6782812-G of NONHSAT197521.1 is significantly associated with the white blood cell count (basophil) by using GWAS analysis in up to 11,809 hispanic/latino american individuals; up to 7,200 hispanic/latino american individuals(p-value = 1E-26 ;OR = 0.0671). 0.4 Genome-wide association of white blood cell counts in Hispanic/Latino Americans: the Hispanic Community Health Study/Study of Latinos. NCRV0000003775 23303382 NONHSAT150705.1 rs3761944 C N/A 4,637 east asian ancestry individuals; 4,205 east asian ancestry individuals EFO_0005128 N/A Associate Hematology traits rs3761944-C of NONHSAT150705.1 is significantly associated with the hematology traits by using GWAS analysis in 4,637 east asian ancestry individuals; 4,205 east asian ancestry individuals(p-value = 8E-6 ;OR = 0.016). 0.4 Genome-wide association study of serum albumin:globulin ratio in Korean populations. NCRV0000003412 27622933 NONHSAT208327.1 rs57043326 ? N/A 1,311 european ancestry non-responder cases//192,178 european ancestry healthy controls EFO_0003761 antidepressants Associate Non-response to antidepressants and depression rs57043326-? of NONHSAT208327.1 is significantly associated with the non-response to antidepressants and depression by using GWAS analysis in 1,311 european ancestry non-responder cases//192,178 european ancestry healthy controls(p-value = 8E-7 ;OR = 2.65252). 0.4 Analysis of 23andMe antidepressant efficacy survey data: implication of circadian rhythm and neuroplasticity in bupropion response. NCRV0000001634 24324551 NONHSAT079029.2 rs3176130 ? N/A 580 brazilian ancestry individuals EFO_0005529 N/A Associate Pr interval in tripanosoma cruzi seropositivity rs3176130-? of NONHSAT079029.2 is significantly associated with the pr interval in tripanosoma cruzi seropositivity by using GWAS analysis in 580 brazilian ancestry individuals(p-value = 2E-7 ;OR = ?). 0.4 Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects. NCRV0000001444 28604730 NONHSAT218812.1 rs10113175 G N/A 2,355 european ancestry cases// 7,504 european ancestry controls EFO_0001071 in ever smokers Associate Lung cancer in never smokers rs10113175-G of NONHSAT218812.1 is significantly associated with the lung cancer in never smokers by using GWAS analysis in 2,355 european ancestry cases// 7,504 european ancestry controls(p-value = 9E-6 ;OR = 1.5820769). 0.4 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. NCRV0000001585 27863252 NONHSAT000496.2 rs2072732 C N/A 164,339 european ancestry individuals EFO_0007985 N/A Associate Plateletcrit rs2072732-C of NONHSAT000496.2 is significantly associated with the plateletcrit by using GWAS analysis in 164,339 european ancestry individuals(p-value = 1E-14 ;OR = 0.03619666). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000899 27225129 NONHSAT208796.1 rs7776010 ? N/A 405,072 european ancestry individuals EFO_0004784 N/A Associate Educational attainment (college completion) rs7776010-? of NONHSAT208796.1 is significantly associated with the educational attainment (college completion) by using GWAS analysis in 405,072 european ancestry individuals(p-value = 9E-9 ;OR = 1.0476757). 0.4 Genome-wide association study identifies 74 loci associated with educational attainment. NCRV0000003534 28247064 NONHSAT172359.1 rs656900 C N/A 3,146 individuals EFO_0000249 N/A Associate Cerebrospinal p-tau181p levels rs656900-C of NONHSAT172359.1 is significantly associated with the cerebrospinal p-tau181p levels by using GWAS analysis in 3,146 individuals(p-value = 8E-6 ;OR = 0.031). 0.4 Genome-wide association study identifies four novel loci associated with Alzheimer's endophenotypes and disease modifiers. NCRV0000001908 28298293 NONHSAT026207.2 rs12579775 A N/A 3,521 chinese ancestry individuals//european ancestry individuals (see wu et al 2013) EFO_0006810 N/A Associate Oleic acid (18:1n-9) levels rs12579775-A of NONHSAT026207.2 is significantly associated with the oleic acid (18:1n-9) levels by using GWAS analysis in 3,521 chinese ancestry individuals//european ancestry individuals (see wu et al 2013)(p-value = 2E-8 ;OR = 0.539). 0.4 Discovery and fine-mapping of loci associated with MUFAs through trans-ethnic meta-analysis in Chinese and European populations. NCRV0000000208 19812673 NONHSAT203858.1 rs10513025 ? N/A 1,553 cases from 1,031 families; 2,073 trios EFO_0003756 N/A Associate Autism rs10513025-? of NONHSAT203858.1 is significantly associated with the autism by using GWAS analysis in 1,553 cases from 1,031 families; 2,073 trios(p-value = 2E-7 ;OR = 1.81). 0.4 A genome-wide linkage and association scan reveals novel loci for autism. NCRV0000002460 24324551 NONHSAT209077.1 rs2038868 ? N/A 207 brazilian ancestry cases//306 brazilian ancestry controls EFO_0005529 in Tripanosoma cruzi seropositivity Associate Chagas cardiomyopathy in tripanosoma cruzi seropositivity rs2038868-? of NONHSAT209077.1 is significantly associated with the chagas cardiomyopathy in tripanosoma cruzi seropositivity by using GWAS analysis in 207 brazilian ancestry cases//306 brazilian ancestry controls(p-value = 9E-6 ;OR = ?). 0.4 Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects. NCRV0000000501 24204828 NONHSAT204194.1 rs30360 G N/A 820 european ancestry individuals EFO_0001360 dietary factor interaction Associate Fasting insulin (dietary factor interaction) rs30360-G of NONHSAT204194.1 is significantly associated with the fasting insulin (dietary factor interaction) by using GWAS analysis in 820 european ancestry individuals(p-value = 9E-7 ;OR = ?). 0.4 Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits. NCRV0000000491 27863252 NONHSAT093154.2 rs9811216 C N/A 172,275 european ancestry individuals EFO_0004842 N/A Associate Eosinophil counts rs9811216-C of NONHSAT093154.2 is significantly associated with the eosinophil counts by using GWAS analysis in 172,275 european ancestry individuals(p-value = 2E-12 ;OR = 0.02869912). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002060 28714975 NONHSAT156831.1 rs1887318 T N/A 18,467 european and unknown ancestry cases//45,264 european and unknown ancestry controls; 57,347 european and unknown ancestry cases//219,521 european and unknown ancestry controls EFO_0000378 N/A Associate Coronary artery disease (myocardial infartum//percutaneous transluminal coronary angioplasty//coronary artery bypass grafting//angina or chromic ischemic heart disease) rs1887318-T of NONHSAT156831.1 is significantly associated with the coronary artery disease (myocardial infartum//percutaneous transluminal coronary angioplasty//coronary artery bypass grafting//angina or chromic ischemic heart disease) by using GWAS analysis in 18,467 european and unknown ancestry cases//45,264 european and unknown ancestry controls; 57,347 european and unknown ancestry cases//219,521 european and unknown ancestry controls(p-value = 4E-12 ;OR = 1.06). 0.4 Association analyses based on false discovery rate implicate new loci for coronary artery disease. NCRV0000003917 22863734 NONHSAT218889.1 rs987525 A N/A up to 666 european ancestry trios//399 european ancestry cases//1,318 european ancestry controls; up to 795 east asian ancestry trios MONDO_0000358 N/A Associate Orofacial clefts rs987525-A of NONHSAT218889.1 is significantly associated with the orofacial clefts by using GWAS analysis in up to 666 european ancestry trios//399 european ancestry cases//1,318 european ancestry controls; up to 795 east asian ancestry trios(p-value = 1E-26 ;OR = ?). 0.4 Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci. NCRV0000003711 28240269 NONHSAT150262.1 rs7529589 T N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008269 N/A Associate Blood protein levels rs7529589-T of NONHSAT150262.1 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 2E-22 ;OR = 0.4252). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. NCRV0000001215 28928442 NONHSAT207066.1 rs6539 ? N/A 46,936 european ancestry cases//74,874 european ancestry controls EFO_0007904 N/A Associate Childhood ear infection rs6539-? of NONHSAT207066.1 is significantly associated with the childhood ear infection by using GWAS analysis in 46,936 european ancestry cases//74,874 european ancestry controls(p-value = 3E-6 ;OR = 0.0618). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. NCRV0000002057 22610502 NONHSAT059290.2 rs9807334 A N/A up to 512 european ancestry individuals//up to 199 african american individuals EFO_0004645 N/A Associate Immune reponse to smallpox (secreted ifn-alpha) rs9807334-A of NONHSAT059290.2 is significantly associated with the immune reponse to smallpox (secreted ifn-alpha) by using GWAS analysis in up to 512 european ancestry individuals//up to 199 african american individuals(p-value = 2E-7 ;OR = ?). 0.4 Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. NCRV0000002665 23969696 NONHSAT183488.1 rs715 T N/A 91,323 european ancestry individuals; 8,423 african american individuals//1,447 hispanic individuals EFO_0004623 N/A Associate Fibrinogen rs715-T of NONHSAT183488.1 is significantly associated with the fibrinogen by using GWAS analysis in 91,323 european ancestry individuals; 8,423 african american individuals//1,447 hispanic individuals(p-value = 2E-11 ;OR = 0.009). 0.4 Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease. NCRV0000002260 24024966 NONHSAT209960.1 rs78797168 A N/A up to 3,915 european ancestry individuals EFO_0000649 N/A Associate Periodontitis (cdc/aap) rs78797168-A of NONHSAT209960.1 is significantly associated with the periodontitis (cdc/aap) by using GWAS analysis in up to 3,915 european ancestry individuals(p-value = 2E-6 ;OR = 1.75). 0.4 Genome-wide association study of chronic periodontitis in a general German population. NCRV0000001442 24509480 NONHSAT150555.1 rs2820446 C N/A 12,171 european ancestry cases//56,862 european ancestry controls//6,952 east asian ancestry cases//11,865 east asian ancestry controls//5,561 south asian ancestry cases//14,458 south asian ancestry controls//1,804 mexican ancestry cases//779 mexican ancestry controls; 21,491 european ancestry cases//55,647 european ancestry controls EFO_0001360 N/A Associate Type 2 diabetes rs2820446-C of NONHSAT150555.1 is significantly associated with the type 2 diabetes by using GWAS analysis in 12,171 european ancestry cases//56,862 european ancestry controls//6,952 east asian ancestry cases//11,865 east asian ancestry controls//5,561 south asian ancestry cases//14,458 south asian ancestry controls//1,804 mexican ancestry cases//779 mexican ancestry controls; 21,491 european ancestry cases//55,647 european ancestry controls(p-value = 2E-6 ;OR = 1.05). 0.4 Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. NCRV0000003407 27863252 NONHSAT197522.1 rs11359909 A N/A 170,702 european ancestry individuals EFO_0004833 N/A Associate Neutrophil count rs11359909-A of NONHSAT197522.1 is significantly associated with the neutrophil count by using GWAS analysis in 170,702 european ancestry individuals(p-value = 1E-34 ;OR = 0.07165217). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001941 27863252 NONHSAT060713.2 rs778798 C N/A 171,996 european ancestry individuals EFO_0007992 N/A Associate Basophil percentage of white cells rs778798-C of NONHSAT060713.2 is significantly associated with the basophil percentage of white cells by using GWAS analysis in 171,996 european ancestry individuals(p-value = 2E-12 ;OR = 0.02815868). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002269 27989323 NONHSAT187243.1 rs6707510 G N/A 3,409 finnish ancestry individuals EFO_0005140 N/A Associate Interleukin-7 levels rs6707510-G of NONHSAT187243.1 is significantly associated with the interleukin-7 levels by using GWAS analysis in 3,409 finnish ancestry individuals(p-value = 9E-6 ;OR = 0.1328). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. NCRV0000000655 27863252 NONHSAT060713.2 rs778798 C N/A 170,223 european ancestry individuals EFO_0007995 N/A Associate Basophil percentage of granulocytes rs778798-C of NONHSAT060713.2 is significantly associated with the basophil percentage of granulocytes by using GWAS analysis in 170,223 european ancestry individuals(p-value = 2E-9 ;OR = 0.0241134). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002313 27863252 NONHSAT064202.2 rs4499344 A N/A 164,454 european ancestry individuals EFO_0004584 N/A Associate Mean platelet volume rs4499344-A of NONHSAT064202.2 is significantly associated with the mean platelet volume by using GWAS analysis in 164,454 european ancestry individuals(p-value = 3E-9 ;OR = 0.02367493). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003462 24105470 NONHSAT197991.1 rs10937273 A N/A 7,827 east asian ancestry individuals; 10,252 east asian ancestry individuals EFO_0000319 N/A Associate Adiponectin levels rs10937273-A of NONHSAT197991.1 is significantly associated with the adiponectin levels by using GWAS analysis in 7,827 east asian ancestry individuals; 10,252 east asian ancestry individuals(p-value = 2E-22 ;OR = 0.12). 0.4 A meta-analysis of genome-wide association studies for adiponectin levels in East Asians identifies a novel locus near WDR11-FGFR2. NCRV0000002923 28247064 NONHSAT168670.1 rs12889974 G N/A 3,146 individuals EFO_0000249 N/A Associate Cerebrospinal p-tau181p levels rs12889974-G of NONHSAT168670.1 is significantly associated with the cerebrospinal p-tau181p levels by using GWAS analysis in 3,146 individuals(p-value = 4E-6 ;OR = 0.05). 0.4 Genome-wide association study identifies four novel loci associated with Alzheimer's endophenotypes and disease modifiers. NCRV0000003714 27863252 NONHSAT197521.1 rs4328821 G N/A 171,771 european ancestry individuals EFO_0009389 N/A Associate Sum eosinophil basophil counts rs4328821-G of NONHSAT197521.1 is significantly associated with the sum eosinophil basophil counts by using GWAS analysis in 171,771 european ancestry individuals(p-value = 5E-138 ;OR = 0.1436063). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001556 28270201 NONHSAT069479.2 rs672889 G N/A 19,259 british ancestry individuals from 6863 families. EFO_0000319 N/A Associate Cholesterol//total rs672889-G of NONHSAT069479.2 is significantly associated with the cholesterol//total by using GWAS analysis in 19,259 british ancestry individuals from 6863 families.(p-value = 4E-16 ;OR = 0.1294899). 0.4 Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants. NCRV0000001992 27488534 NONHSAT179753.1 rs76617915 A N/A 437 european ancestry individuals//364 african american individuals//453 latino individuals//674 japanese american individuals//311 native hawaiian ancestry individuals EFO_0004318 N/A Associate Nicotine metabolite ratio in current smokers rs76617915-A of NONHSAT179753.1 is significantly associated with the nicotine metabolite ratio in current smokers by using GWAS analysis in 437 european ancestry individuals//364 african american individuals//453 latino individuals//674 japanese american individuals//311 native hawaiian ancestry individuals(p-value = 2E-8 ;OR = 0.6151). 0.4 Novel Association of Genetic Markers Affecting CYP2A6 Activity and Lung Cancer Risk. NCRV0000000523 22610502 NONHSAT010318.2 rs908327 C N/A up to 512 european ancestry individuals//up to 199 african american individuals EFO_0004645 N/A Associate Immune reponse to smallpox (secreted il-2) rs908327-C of NONHSAT010318.2 is significantly associated with the immune reponse to smallpox (secreted il-2) by using GWAS analysis in up to 512 european ancestry individuals//up to 199 african american individuals(p-value = 5E-10 ;OR = ?). 0.4 Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. NCRV0000000385 28604730 NONHSAT206996.1 rs66488313 T N/A 29,266 european ancestry cases//56,450 european ancestry controls EFO_0001071 N/A Associate Lung cancer rs66488313-T of NONHSAT206996.1 is significantly associated with the lung cancer by using GWAS analysis in 29,266 european ancestry cases//56,450 european ancestry controls(p-value = 2E-8 ;OR = 1.1313485). 0.4 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. NCRV0000002284 27989323 NONHSAT205189.1 rs116383510 C N/A 3,636 finnish ancestry individuals EFO_0005140 N/A Associate Interleukin-18 levels rs116383510-C of NONHSAT205189.1 is significantly associated with the interleukin-18 levels by using GWAS analysis in 3,636 finnish ancestry individuals(p-value = 3E-7 ;OR = 0.5426). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. NCRV0000003509 24105470 NONHSAT016698.2 rs3943077 A N/A 7,827 east asian ancestry individuals; 10,252 east asian ancestry individuals EFO_0000319 N/A Associate Adiponectin levels rs3943077-A of NONHSAT016698.2 is significantly associated with the adiponectin levels by using GWAS analysis in 7,827 east asian ancestry individuals; 10,252 east asian ancestry individuals(p-value = 3E-14 ;OR = 0.07). 0.4 A meta-analysis of genome-wide association studies for adiponectin levels in East Asians identifies a novel locus near WDR11-FGFR2. NCRV0000003780 19684603 NONHSAT164352.1 rs10849033 G N/A 317 european ancestry cases//17,958 european ancestry controls EFO_0000220 N/A Associate Acute lymphoblastic leukemia (childhood) rs10849033-G of NONHSAT164352.1 is significantly associated with the acute lymphoblastic leukemia (childhood) by using GWAS analysis in 317 european ancestry cases//17,958 european ancestry controls(p-value = 9E-6 ;OR = 2.55). 0.4 Germline genomic variants associated with childhood acute lymphoblastic leukemia. NCRV0000002649 28203683 NONHSAT082287.2 rs111476780 A N/A 393 african american cases//4,941 african american controls.; nr EFO_0004286 N/A Associate Venous thromboembolism adjusted for sickle cell variant rs77121243-t rs111476780-A of NONHSAT082287.2 is significantly associated with the venous thromboembolism adjusted for sickle cell variant rs77121243-t by using GWAS analysis in 393 african american cases//4,941 african american controls.; nr(p-value = 3E-6 ;OR = 3.687). 0.4 Identification of unique venous thromboembolism-susceptibility variants in African-Americans. NCRV0000002748 27151647 NONHSAT206506.1 rs1363605 ? N/A 2,605 european ancestry individuals//1,233 african american individuals EFO_0003829 N/A Associate Alcohol dependence symptom count rs1363605-? of NONHSAT206506.1 is significantly associated with the alcohol dependence symptom count by using GWAS analysis in 2,605 european ancestry individuals//1,233 african american individuals(p-value = 1E-15 ;OR = 0.367). 0.4 An association study revealed substantial effects of dominance, epistasis and substance dependence co-morbidity on alcohol dependence symptom count. NCRV0000000391 20686565 NONHSAT067101.2 rs492602 G N/A 100,184 european ancestry individuals EFO_0000319 N/A Associate Cholesterol//total rs492602-G of NONHSAT067101.2 is significantly associated with the cholesterol//total by using GWAS analysis in 100,184 european ancestry individuals(p-value = 2E-10 ;OR = 1.27). 0.4 Biological, clinical and population relevance of 95 loci for blood lipids. NCRV0000003442 20339536 NONHSAT218025.1 rs10091038 A N/A 3,928 european ancestry individuals GO_0036273 N/A Associate Response to statin therapy rs10091038-A of NONHSAT218025.1 is significantly associated with the response to statin therapy by using GWAS analysis in 3,928 european ancestry individuals(p-value = 3E-8 ;OR = ?). 0.4 Genome-wide association of lipid-lowering response to statins in combined study populations. NCRV0000002455 28166213 NONHSAT204840.1 rs3839234 ? N/A 48,943 european ancestry individuals.; 57,176 european ancestry individuals//38,199 individuals. EFO_0000341 N/A Associate Lung function (fev1) rs3839234-? of NONHSAT204840.1 is significantly associated with the lung function (fev1) by using GWAS analysis in 48,943 european ancestry individuals.; 57,176 european ancestry individuals//38,199 individuals.(p-value = 4E-11 ;OR = 0.026). 0.4 Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets. NCRV0000002849 22005931 NONHSAT177873.1 rs1037757 ? N/A 1,190 european ancestry cases//1,032 cases EFO_0000249 N/A Associate Alzheimer's disease (age of onset) rs1037757-? of NONHSAT177873.1 is significantly associated with the alzheimer's disease (age of onset) by using GWAS analysis in 1,190 european ancestry cases//1,032 cases(p-value = 8E-6 ;OR = 4.5618). 0.4 Genome-wide association analysis of age-at-onset in Alzheimer's disease. NCRV0000000994 27863252 NONHSAT056011.2 rs549579958 C N/A 170,763 european ancestry individuals EFO_0007986 N/A Associate High light scatter reticulocyte count rs549579958-C of NONHSAT056011.2 is significantly associated with the high light scatter reticulocyte count by using GWAS analysis in 170,763 european ancestry individuals(p-value = 2E-29 ;OR = 0.3300637). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000546 22885689 NONHSAT109687.2 rs16869652 ? N/A 1,218 european ancestry cases//990 european ancestry controls//139 cases//114 controls EFO_0000692 N/A Associate Schizophrenia rs16869652-? of NONHSAT109687.2 is significantly associated with the schizophrenia by using GWAS analysis in 1,218 european ancestry cases//990 european ancestry controls//139 cases//114 controls(p-value = 5E-6 ;OR = 1.448). 0.4 Genome-wide association study of multiplex schizophrenia pedigrees. NCRV0000002882 27863252 NONHSAT076891.2 rs55799208 A N/A 170,702 european ancestry individuals EFO_0004833 N/A Associate Neutrophil count rs55799208-A of NONHSAT076891.2 is significantly associated with the neutrophil count by using GWAS analysis in 170,702 european ancestry individuals(p-value = 7E-42 ;OR = 0.4864247). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003458 20543847 NONHSAT027070.2 rs2900333 C N/A 979 european ancestry cases//4,947 european ancestry controls; 664 european ancestry cases//3,456 european ancestry controls EFO_0005088 N/A Associate Testicular germ cell cancer rs2900333-C of NONHSAT027070.2 is significantly associated with the testicular germ cell cancer by using GWAS analysis in 979 european ancestry cases//4,947 european ancestry controls; 664 european ancestry cases//3,456 european ancestry controls(p-value = 6E-10 ;OR = 1.27). 0.4 Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer. NCRV0000001096 25056061 NONHSAT048434.2 rs4702 G N/A 32,405 european ancestry cases//42,221 european ancestry controls//1,235 european ancestry cases and 1,235 european ancestry controls from 1235 parent-offspring trios//1,836 east asian ancestry cases//3,383 east asian ancestry controls; 1,513 european ancestry cases//66,236 european ancestry controls EFO_0000692 N/A Associate Schizophrenia rs4702-G of NONHSAT048434.2 is significantly associated with the schizophrenia by using GWAS analysis in 32,405 european ancestry cases//42,221 european ancestry controls//1,235 european ancestry cases and 1,235 european ancestry controls from 1235 parent-offspring trios//1,836 east asian ancestry cases//3,383 east asian ancestry controls; 1,513 european ancestry cases//66,236 european ancestry controls(p-value = 8E-14 ;OR = 1.0845987). 0.4 Biological insights from 108 schizophrenia-associated genetic loci. NCRV0000003362 26192919 NONHSAT076899.2 rs11677953 ? N/A 12,882 european ancestry cases//21,770 european ancestry controls; 25,273 european ancestry cases//26,715 european ancestry controls//548 iranian ancestry cases//342 iranian ancestry control//1,423 indian ancestry cases//990 indian ancestry controls//2,824 east asian ancestry cases//3,719 east asian ancestry controls EFO_0003767 N/A Associate Inflammatory bowel disease rs11677953-? of NONHSAT076899.2 is significantly associated with the inflammatory bowel disease by using GWAS analysis in 12,882 european ancestry cases//21,770 european ancestry controls; 25,273 european ancestry cases//26,715 european ancestry controls//548 iranian ancestry cases//342 iranian ancestry control//1,423 indian ancestry cases//990 indian ancestry controls//2,824 east asian ancestry cases//3,719 east asian ancestry controls(p-value = 3E-15 ;OR = ?). 0.4 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. NCRV0000002701 25188341 NONHSAT150383.1 rs11118993 A N/A up to 4,707 individuals EFO_0006797 N/A Associate Neurofibrillary tangles rs11118993-A of NONHSAT150383.1 is significantly associated with the neurofibrillary tangles by using GWAS analysis in up to 4,707 individuals(p-value = 9E-6 ;OR = 0.2051). 0.4 Genome-wide association meta-analysis of neuropathologic features of Alzheimer's disease and related dementias. NCRV0000003042 18264097 NONHSAT216396.1 rs6983267 G N/A 1,854 european ancestry cases//1,894 european ancestry controls; 3,268 european ancestry cases//3,366 european ancestry controls EFO_0001663 N/A Associate Prostate cancer rs6983267-G of NONHSAT216396.1 is significantly associated with the prostate cancer by using GWAS analysis in 1,854 european ancestry cases//1,894 european ancestry controls; 3,268 european ancestry cases//3,366 european ancestry controls(p-value = 9E-13 ;OR = 1.42). 0.4 Multiple newly identified loci associated with prostate cancer susceptibility. NCRV0000003868 25886283 NONHSAT056261.2 rs11891 T N/A 2,317 european ancestry children//1,283 african american ancestry children EFO_0004845 N/A Associate Magnesium levels rs11891-T of NONHSAT056261.2 is significantly associated with the magnesium levels by using GWAS analysis in 2,317 european ancestry children//1,283 african american ancestry children(p-value = 7E-6 ;OR = 0.0322). 0.4 Genome-wide association study of serum minerals levels in children of different ethnic background. NCRV0000002369 24816252 NONHSAT206686.1 rs9392556 T N/A 7,824 european ancestry individuals EFO_0005664 N/A Associate Blood metabolite levels rs9392556-T of NONHSAT206686.1 is significantly associated with the blood metabolite levels by using GWAS analysis in 7,824 european ancestry individuals(p-value = 4E-38 ;OR = 0.036). 0.4 An atlas of genetic influences on human blood metabolites. NCRV0000002664 22747683 NONHSAT182515.1 rs13401620 A N/A 16,175 european ancestry female individuals EFO_0004884 N/A Associate Breast size rs13401620-A of NONHSAT182515.1 is significantly associated with the breast size by using GWAS analysis in 16,175 european ancestry female individuals(p-value = 2E-6 ;OR = 0.095). 0.4 Genetic variants associated with breast size also influence breast cancer risk. NCRV0000002689 22544364 NONHSAT186705.1 rs807624 A N/A 757 european ancestry cases//1,879 european ancestry controls; 1,488 european ancestry cases//3,851 european ancestry controls Orphanet_654 N/A Associate Wilms tumor rs807624-A of NONHSAT186705.1 is significantly associated with the wilms tumor by using GWAS analysis in 757 european ancestry cases//1,879 european ancestry controls; 1,488 european ancestry cases//3,851 european ancestry controls(p-value = 1E-14 ;OR = 1.33). 0.4 A genome-wide association study identifies susceptibility loci for Wilms tumor. NCRV0000001805 25140149 NONHSAT016673.2 rs12261764 ? N/A 382 european ancestry mild cognitive impairment cases//114 european ancestry alzheimer's disease cases//194 european ancestry controls HP_0012444 N/A Associate Left inferior lateral ventricle volume (cerebrospinal fluid biomarker status interaction) rs12261764-? of NONHSAT016673.2 is significantly associated with the left inferior lateral ventricle volume (cerebrospinal fluid biomarker status interaction) by using GWAS analysis in 382 european ancestry mild cognitive impairment cases//114 european ancestry alzheimer's disease cases//194 european ancestry controls(p-value = 1E-7 ;OR = 5.55). 0.4 Genetic variation modifies risk for neurodegeneration based on biomarker status. NCRV0000002641 26962152 NONHSAT165208.1 rs7135417 ? N/A 394 european american individuals with periodontal health//389 european american individuals with mild-moderate periodontitis//192 european american individuals with severe periodontitis EFO_0000649 N/A Associate Periodontal disease-related phenotypes rs7135417-? of NONHSAT165208.1 is significantly associated with the periodontal disease-related phenotypes by using GWAS analysis in 394 european american individuals with periodontal health//389 european american individuals with mild-moderate periodontitis//192 european american individuals with severe periodontitis(p-value = 1E-9 ;OR = 0.44). 0.4 Genome-wide association study of biologically informed periodontal complex traits offers novel insights into the genetic basis of periodontal disease. NCRV0000003207 27064256 NONHSAT134879.2 rs3739821 G N/A 5,612 east asian ancestry cases//12,451 east asian ancestry controls//337 indian ancestry cases//2,538 indian ancestry controls//576 european ancestry cases//4,940 european ancestry controls; 430 european ancestry cases//3,133 european ancestry controls//90 nepalese ancestry cases//205 nepalese ancestry controls//2,340 east asian ancestry cases//3,865 east asian ancestry controls//628 south asian ancestry cases//552 south asian ancestry controls//99 latin american cases//224 latin american controls//391 saudi arabian ancestry cases//1,659 saudi arabian ancestry controls EFO_1001506 N/A Associate Glaucoma (primary angle closure) rs3739821-G of NONHSAT134879.2 is significantly associated with the glaucoma (primary angle closure) by using GWAS analysis in 5,612 east asian ancestry cases//12,451 east asian ancestry controls//337 indian ancestry cases//2,538 indian ancestry controls//576 european ancestry cases//4,940 european ancestry controls; 430 european ancestry cases//3,133 european ancestry controls//90 nepalese ancestry cases//205 nepalese ancestry controls//2,340 east asian ancestry cases//3,865 east asian ancestry controls//628 south asian ancestry cases//552 south asian ancestry controls//99 latin american cases//224 latin american controls//391 saudi arabian ancestry cases//1,659 saudi arabian ancestry controls(p-value = 5E-11 ;OR = 1.15). 0.4 Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma. NCRV0000000618 27863252 NONHSAT208128.1 rs35304300 G N/A 164,454 european ancestry individuals EFO_0004584 N/A Associate Mean platelet volume rs35304300-G of NONHSAT208128.1 is significantly associated with the mean platelet volume by using GWAS analysis in 164,454 european ancestry individuals(p-value = 1E-10 ;OR = 0.02937207). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002598 29059683 NONHSAT213710.1 rs35522438 AT N/A 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls EFO_0000305 N/A Associate Breast cancer rs35522438-AT of NONHSAT213710.1 is significantly associated with the breast cancer by using GWAS analysis in 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls(p-value = 1E-9 ;OR = 0.0389). 0.4 Association analysis identifies 65 new breast cancer risk loci. NCRV0000001032 27182965 NONHSAT187410.1 rs11694441 ? N/A 69,284 european ancestry individuals EFO_0007906 N/A Associate Monobrow rs11694441-? of NONHSAT187410.1 is significantly associated with the monobrow by using GWAS analysis in 69,284 european ancestry individuals(p-value = 8E-10 ;OR = 0.037). 0.4 Detection and interpretation of shared genetic influences on 42 human traits. NCRV0000003002 28077804 NONHSAT163152.1 rs10870468 ? N/A 31,478 european ancestry older adults; 2,588 european ancestry older adults EFO_0007680 N/A Associate Gait speed in old age rs10870468-? of NONHSAT163152.1 is significantly associated with the gait speed in old age by using GWAS analysis in 31,478 european ancestry older adults; 2,588 european ancestry older adults(p-value = 1E-6 ;OR = 0.0091). 0.4 The complex genetics of gait speed: genome-wide meta-analysis approach. NCRV0000001709 20889312 NONHSAT189505.1 rs2424635 ? N/A 651 european ancestry bipolar cases//1,171 european ancestry schizophrenia cases//2,412 european ancestry controls EFO_0000677 N/A Associate Bipolar disorder and schizophrenia rs2424635-? of NONHSAT189505.1 is significantly associated with the bipolar disorder and schizophrenia by using GWAS analysis in 651 european ancestry bipolar cases//1,171 european ancestry schizophrenia cases//2,412 european ancestry controls(p-value = 7E-6 ;OR = 1.2261). 0.4 A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. NCRV0000002938 20010835 NONHSAT133371.2 rs16909898 A N/A 20,890 european ancestry individuals; 16,178 european ancestry individuals EFO_0003892 N/A Associate Pulmonary function rs16909898-A of NONHSAT133371.2 is significantly associated with the pulmonary function by using GWAS analysis in 20,890 european ancestry individuals; 16,178 european ancestry individuals(p-value = 5E-7 ;OR = 0.5). 0.4 Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function. NCRV0000000684 29059683 NONHSAT171014.1 rs12904134 A N/A 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls EFO_0000305 N/A Associate Breast cancer rs12904134-A of NONHSAT171014.1 is significantly associated with the breast cancer by using GWAS analysis in 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls(p-value = 8E-6 ;OR = 0.0286). 0.4 Association analysis identifies 65 new breast cancer risk loci. NCRV0000002924 25082827 NONHSAT211049.1 rs2858829 ? N/A up to 7,483 european ancestry cases//up to 21,211 european ancestry controls; 1,073 european ancestry cases//1,279 european ancestry controls EFO_0000729 N/A Associate Ulcerative colitis rs2858829-? of NONHSAT211049.1 is significantly associated with the ulcerative colitis by using GWAS analysis in up to 7,483 european ancestry cases//up to 21,211 european ancestry controls; 1,073 european ancestry cases//1,279 european ancestry controls(p-value = 8E-10 ;OR = 1.12). 0.4 A genome-wide association study identifies a novel locus at 6q22.1 associated with ulcerative colitis. NCRV0000001889 23648065 NONHSAT210951.1 rs9386485 T N/A 371 japanese ancestry cases//825 japanese ancestry controls DOID_1227 all antimetabolite drugs Associate Adverse response to chemotherapy (neutropenia/leucopenia) rs9386485-T of NONHSAT210951.1 is significantly associated with the adverse response to chemotherapy (neutropenia/leucopenia) by using GWAS analysis in 371 japanese ancestry cases//825 japanese ancestry controls(p-value = 3E-6 ;OR = 1.524). 0.4 Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan. NCRV0000000917 26634245 NONHSAT206674.1 rs187885921 C N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs187885921-C of NONHSAT206674.1 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 5E-6 ;OR = 1.821). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000003689 18839057 NONHSAT015818.2 rs10786284 ? N/A 343 european ancestry cases//250 european ancestry controls//54 controls EFO_0003888 N/A Associate Attention deficit hyperactivity disorder rs10786284-? of NONHSAT015818.2 is significantly associated with the attention deficit hyperactivity disorder by using GWAS analysis in 343 european ancestry cases//250 european ancestry controls//54 controls(p-value = 2E-6 ;OR = ?). 0.4 Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies. NCRV0000001893 29221444 NONHSAT158458.1 rs2900783 ? N/A 345 african american cases//346 african american controls; 137 african american cases//68 african american controls EFO_0004723 N/A Associate Coronary artery calcified atherosclerotic plaque (130 hu threshold) in type 2 diabetes rs2900783-? of NONHSAT158458.1 is significantly associated with the coronary artery calcified atherosclerotic plaque (130 hu threshold) in type 2 diabetes by using GWAS analysis in 345 african american cases//346 african american controls; 137 african american cases//68 african american controls(p-value = 2E-6 ;OR = 0.186). 0.4 Genome-wide association study of coronary artery calcified atherosclerotic plaque in African Americans with type 2 diabetes. NCRV0000001942 26830138 NONHSAT160327.1 rs2313143 A N/A 2,478 european ancestry cases//979 ancestry controls both from the same 1,070 families EFO_0000249 N/A Associate Alzheimer disease and age of onset rs2313143-A of NONHSAT160327.1 is significantly associated with the alzheimer disease and age of onset by using GWAS analysis in 2,478 european ancestry cases//979 ancestry controls both from the same 1,070 families(p-value = 2E-7 ;OR = 5.224). 0.4 Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3. NCRV0000003227 26634245 NONHSAT047598.2 rs3971859 T N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs3971859-T of NONHSAT047598.2 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 3E-7 ;OR = 0.082). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000001222 29059683 NONHSAT217625.1 rs7017073 C N/A 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls EFO_0000305 N/A Associate Breast cancer rs7017073-C of NONHSAT217625.1 is significantly associated with the breast cancer by using GWAS analysis in 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls(p-value = 2E-14 ;OR = 0.0572). 0.4 Association analysis identifies 65 new breast cancer risk loci. NCRV0000003271 28512139 NONHSAT179793.1 rs7412 T N/A 13,781 european ancestry individuals EFO_0000319 N/A Associate Lipoprotein (a) levels rs7412-T of NONHSAT179793.1 is significantly associated with the lipoprotein (a) levels by using GWAS analysis in 13,781 european ancestry individuals(p-value = 3E-10 ;OR = 3.34). 0.4 A genome-wide association meta-analysis on lipoprotein (a) concentrations adjusted for apolipoprotein (a) isoforms. NCRV0000002968 27863252 NONHSAT026062.2 rs10466905 A N/A 171,643 european ancestry individuals EFO_0004587 N/A Associate Lymphocyte counts rs10466905-A of NONHSAT026062.2 is significantly associated with the lymphocyte counts by using GWAS analysis in 171,643 european ancestry individuals(p-value = 2E-55 ;OR = 0.07213908). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001033 27322543 NONHSAT161676.1 rs561561 ? N/A 59,674 european ancestry cases//316,078 european ancestry controls EFO_0003821 N/A Associate Migraine rs561561-? of NONHSAT161676.1 is significantly associated with the migraine by using GWAS analysis in 59,674 european ancestry cases//316,078 european ancestry controls(p-value = 3E-8 ;OR = 1.0638298). 0.4 Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine. NCRV0000003579 28448500 NONHSAT201188.1 rs13130484 T N/A 2,518 african american women//86,278 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//55,137 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men EFO_0001073 joint analysis main effects and physical activity interaction Associate Body mass index rs13130484-T of NONHSAT201188.1 is significantly associated with the body mass index by using GWAS analysis in 2,518 african american women//86,278 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//55,137 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men(p-value = 6E-12 ;OR = 0.0393). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. NCRV0000000651 23001564 NONHSAT093155.2 rs1317082 G N/A 9,190 european ancestry individuals; 2,226 individuals EFO_0004505 N/A Associate Telomere length rs1317082-G of NONHSAT093155.2 is significantly associated with the telomere length by using GWAS analysis in 9,190 european ancestry individuals; 2,226 individuals(p-value = 1E-8 ;OR = 0.0679). 0.4 Genome-wide meta-analysis points to CTC1 and ZNF676 as genes regulating telomere homeostasis in humans. NCRV0000000809 27989323 NONHSAT151041.1 rs12735700 G N/A 7,760 finnish ancestry individuals EFO_0005140 N/A Associate Interleukin-17 levels rs12735700-G of NONHSAT151041.1 is significantly associated with the interleukin-17 levels by using GWAS analysis in 7,760 finnish ancestry individuals(p-value = 8E-6 ;OR = 0.0931). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. NCRV0000001715 22267200 NONHSAT036425.2 rs116909374 T N/A 27,758 european ancestry individuals; 1,156 european ancestry cases//up to 42,617 european ancestry controls EFO_0002892 N/A Associate Thyroid cancer rs116909374-T of NONHSAT036425.2 is significantly associated with the thyroid cancer by using GWAS analysis in 27,758 european ancestry individuals; 1,156 european ancestry cases//up to 42,617 european ancestry controls(p-value = 5E-11 ;OR = 2.09). 0.4 Discovery of common variants associated with low TSH levels and thyroid cancer risk. NCRV0000000977 28017375 NONHSAT010798.2 rs3811444 ? N/A up to 29,946 european ancestry individuals//up to 6150 african american individuals//15,074 east asian individuals.; 16,389 individuals of european and african american ancestry. EFO_0004526 N/A Associate Mean corpuscular volume rs3811444-? of NONHSAT010798.2 is significantly associated with the mean corpuscular volume by using GWAS analysis in up to 29,946 european ancestry individuals//up to 6150 african american individuals//15,074 east asian individuals.; 16,389 individuals of european and african american ancestry.(p-value = 3E-14 ;OR = ?). 0.4 Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis. NCRV0000000586 26192919 NONHSAT116067.2 rs9457247 ? N/A 5,956 european ancestry cases//14,927 european ancestry controls; 14,594 european ancestry cases//26,715 european ancestry controls//151 iranian ancestry cases//342 iranian ancestry controls//184 indian ancestry cases//990 indian ancestry controls//1,690 east asian ancestry cases//3,719 east asian ancestry controls EFO_0000384 N/A Associate Crohn's disease rs9457247-? of NONHSAT116067.2 is significantly associated with the crohn's disease by using GWAS analysis in 5,956 european ancestry cases//14,927 european ancestry controls; 14,594 european ancestry cases//26,715 european ancestry controls//151 iranian ancestry cases//342 iranian ancestry controls//184 indian ancestry cases//990 indian ancestry controls//1,690 east asian ancestry cases//3,719 east asian ancestry controls(p-value = 2E-18 ;OR = ?). 0.4 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. NCRV0000003271 28753643 NONHSAT179793.1 rs7412 T N/A 22,156 european//asian//african//arabic//native american//pacific islander and other ancestry EFO_0000319 N/A Associate Lipoprotein phospholipase a2 activity in cardiovascular disease rs7412-T of NONHSAT179793.1 is significantly associated with the lipoprotein phospholipase a2 activity in cardiovascular disease by using GWAS analysis in 22,156 european//asian//african//arabic//native american//pacific islander and other ancestry(p-value = 8E-78 ;OR = 17.11). 0.4 Pharmacogenetic meta-analysis of baseline risk factors, pharmacodynamic, efficacy and tolerability endpoints from two large global cardiovascular outcomes trials for darapladib. NCRV0000002350 21565293 NONHSAT143860.2 rs3813579 A N/A 3,620 european ancestry individuals; 1,290 european ancestry individuals EFO_1000627 N/A Associate Thyroid volume rs3813579-A of NONHSAT143860.2 is significantly associated with the thyroid volume by using GWAS analysis in 3,620 european ancestry individuals; 1,290 european ancestry individuals(p-value = 4E-10 ;OR = 1.32). 0.4 Genome-wide association study identifies four genetic loci associated with thyroid volume and goiter risk. NCRV0000000290 28928442 NONHSAT172724.1 rs184417093 ? N/A 1,115 european ancestry cases//88,076 european ancestry controls EFO_0008416 N/A Associate Rheumatic fever rs184417093-? of NONHSAT172724.1 is significantly associated with the rheumatic fever by using GWAS analysis in 1,115 european ancestry cases//88,076 european ancestry controls(p-value = 9E-6 ;OR = 3.5772). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. NCRV0000001659 21292315 NONHSAT054165.2 rs2942168 G N/A 5,333 european ancestry cases//12,019 european ancestry controls; 7,053 cases//9,007 controls EFO_0002508 N/A Associate Parkinson's disease rs2942168-G of NONHSAT054165.2 is significantly associated with the parkinson's disease by using GWAS analysis in 5,333 european ancestry cases//12,019 european ancestry controls; 7,053 cases//9,007 controls(p-value = 1E-28 ;OR = 1.27). 0.4 Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. NCRV0000002834 29077507 NONHSAT167916.1 rs75900232 G N/A 677 african american women//544 african american men//115 asian women//113 asian men//1,825 european ancestry women//3,902 european ancestry men// 7,492 hispanic women//5,065 hispanic men EFO_0003918 N/A Associate Obstructive sleep apnea trait (apnea hypopnea index) rs75900232-G of NONHSAT167916.1 is significantly associated with the obstructive sleep apnea trait (apnea hypopnea index) by using GWAS analysis in 677 african american women//544 african american men//115 asian women//113 asian men//1,825 european ancestry women//3,902 european ancestry men// 7,492 hispanic women//5,065 hispanic men(p-value = 7E-7 ;OR = 0.307). 0.4 Multiethnic Meta-Analysis Identifies RAI1 as a Possible Obstructive Sleep Apnea-related Quantitative Trait Locus in Men. NCRV0000002861 27863252 NONHSAT190245.1 rs58904263 AG N/A 170,721 european ancestry individuals EFO_0005091 N/A Associate Monocyte count rs58904263-AG of NONHSAT190245.1 is significantly associated with the monocyte count by using GWAS analysis in 170,721 european ancestry individuals(p-value = 3E-10 ;OR = 0.02735152). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001098 29228715 NONHSAT159789.1 rs7927484 ? N/A 978 austrian ancestry colorectal cancer cases//636 austrian ancestry advanced colorectal adenoma cases//4,294 european ancestry controls EFO_0005842 N/A Associate Colorectal cancer rs7927484-? of NONHSAT159789.1 is significantly associated with the colorectal cancer by using GWAS analysis in 978 austrian ancestry colorectal cancer cases//636 austrian ancestry advanced colorectal adenoma cases//4,294 european ancestry controls(p-value = 9E-6 ;OR = 1.287). 0.4 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas. NCRV0000002394 27863252 NONHSAT220969.1 rs61750929 T N/A 171,542 european ancestry individuals EFO_0007990 N/A Associate Neutrophil percentage of white cells rs61750929-T of NONHSAT220969.1 is significantly associated with the neutrophil percentage of white cells by using GWAS analysis in 171,542 european ancestry individuals(p-value = 5E-14 ;OR = 0.05865074). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000673 22832964 NONHSAT172351.1 rs2036527 A N/A up to 32,389 african american individuals EFO_0004318 N/A Associate Smoking behavior rs2036527-A of NONHSAT172351.1 is significantly associated with the smoking behavior by using GWAS analysis in up to 32,389 african american individuals(p-value = 2E-8 ;OR = 0.04). 0.4 Genome-wide meta-analyses of smoking behaviors in African Americans. NCRV0000001013 25631615 NONHSAT022168.2 rs1346 T N/A 15,087 european ancestry individuals//2,131 erasmus rucphen family individuals; 2,363 chinese ancestry individuals//2,225 malay ancestry individuals//2,025 indian ancestry individuals EFO_0004190 N/A Associate Optic cup area rs1346-T of NONHSAT022168.2 is significantly associated with the optic cup area by using GWAS analysis in 15,087 european ancestry individuals//2,131 erasmus rucphen family individuals; 2,363 chinese ancestry individuals//2,225 malay ancestry individuals//2,025 indian ancestry individuals(p-value = 2E-9 ;OR = 0.019). 0.4 Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology. NCRV0000001590 23166209 NONHSAT205214.1 rs6873793 C N/A 13,105 african american individuals EFO_0004278 N/A Associate Qt interval rs6873793-C of NONHSAT205214.1 is significantly associated with the qt interval by using GWAS analysis in 13,105 african american individuals(p-value = 1E-6 ;OR = 1.47). 0.4 Impact of ancestry and common genetic variants on QT interval in African Americans. NCRV0000002029 26830138 NONHSAT209526.1 rs140633572 A N/A 2,478 european ancestry cases//979 ancestry controls both from the same 1,070 families EFO_0000249 N/A Associate Alzheimer disease and age of onset rs140633572-A of NONHSAT209526.1 is significantly associated with the alzheimer disease and age of onset by using GWAS analysis in 2,478 european ancestry cases//979 ancestry controls both from the same 1,070 families(p-value = 5E-7 ;OR = 5.03). 0.4 Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3. NCRV0000003626 28135244 NONHSAT179793.1 rs7412 T N/A 140,886 european ancestry individuals; 190,318 european ancestry individuals EFO_0005763 N/A Associate Pulse pressure rs7412-T of NONHSAT179793.1 is significantly associated with the pulse pressure by using GWAS analysis in 140,886 european ancestry individuals; 190,318 european ancestry individuals(p-value = 4E-10 ;OR = 0.3826). 0.4 Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk. NCRV0000001738 21738480 NONHSAT210392.1 rs2517510 T N/A 19,509 european ancestry individuals; 11,823 european ancestry individuals EFO_0004308 N/A Associate White blood cell count rs2517510-T of NONHSAT210392.1 is significantly associated with the white blood cell count by using GWAS analysis in 19,509 european ancestry individuals; 11,823 european ancestry individuals(p-value = 4E-13 ;OR = 0.0129). 0.4 Multiple loci are associated with white blood cell phenotypes. NCRV0000003940 25918132 NONHSAT220450.1 rs117260909 C N/A 74 european ancestry cases//824 european ancestry controls EFO_0000270 N/A Associate Diisocyanate-induced asthma rs117260909-C of NONHSAT220450.1 is significantly associated with the diisocyanate-induced asthma by using GWAS analysis in 74 european ancestry cases//824 european ancestry controls(p-value = 7E-6 ;OR = 7.69). 0.4 Genome-Wide Association Study Identifies Novel Loci Associated With Diisocyanate-Induced Occupational Asthma. NCRV0000002298 28017375 NONHSAT201217.1 rs218238 ? N/A up to 40,258 european ancestry individuals//up to 16,128 african american individuals//up to 15,252 east asian individuals.; 16,389 individuals of european and african american ancestry. EFO_0004305 N/A Associate Red blood cell count rs218238-? of NONHSAT201217.1 is significantly associated with the red blood cell count by using GWAS analysis in up to 40,258 european ancestry individuals//up to 16,128 african american individuals//up to 15,252 east asian individuals.; 16,389 individuals of european and african american ancestry.(p-value = 2E-28 ;OR = ?). 0.4 Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis. NCRV0000002732 28240269 NONHSAT008975.2 rs3795559 A N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008100 N/A Associate Blood protein levels rs3795559-A of NONHSAT008975.2 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 8E-13 ;OR = 0.7153). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. NCRV0000000755 28135244 NONHSAT191029.1 rs79094191 T N/A 140,886 european ancestry individuals; 190,318 european ancestry individuals EFO_0006336 N/A Associate Diastolic blood pressure rs79094191-T of NONHSAT191029.1 is significantly associated with the diastolic blood pressure by using GWAS analysis in 140,886 european ancestry individuals; 190,318 european ancestry individuals(p-value = 4E-13 ;OR = 0.564). 0.4 Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk. NCRV0000003189 27863252 NONHSAT197590.1 rs200516372 G N/A 170,721 european ancestry individuals EFO_0005091 N/A Associate Monocyte count rs200516372-G of NONHSAT197590.1 is significantly associated with the monocyte count by using GWAS analysis in 170,721 european ancestry individuals(p-value = 1E-11 ;OR = 0.05996357). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003703 27863252 NONHSAT209787.1 rs668887 A N/A 170,763 european ancestry individuals EFO_0007986 N/A Associate High light scatter reticulocyte count rs668887-A of NONHSAT209787.1 is significantly associated with the high light scatter reticulocyte count by using GWAS analysis in 170,763 european ancestry individuals(p-value = 1E-176 ;OR = 0.2733505). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001420 26198764 NONHSAT202567.1 rs4629607 G N/A 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls EFO_0000692 N/A Associate Schizophrenia rs4629607-G of NONHSAT202567.1 is significantly associated with the schizophrenia by using GWAS analysis in 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls(p-value = 1E-6 ;OR = 1.0526316). 0.4 Genome-wide association study of schizophrenia in Ashkenazi Jews. NCRV0000003271 24023260 NONHSAT179793.1 rs7412 T N/A 1,782 filipino ancestry mothers; 1,719 filipino ancestry offsprings EFO_0000319 N/A Associate Lipid traits rs7412-T of NONHSAT179793.1 is significantly associated with the lipid traits by using GWAS analysis in 1,782 filipino ancestry mothers; 1,719 filipino ancestry offsprings(p-value = 2E-30 ;OR = 0.09). 0.4 Genetic association with lipids in Filipinos: waist circumference modifies an APOA5 effect on triglyceride levels. NCRV0000003911 26634245 NONHSAT066419.2 rs7937 T N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs7937-T of NONHSAT066419.2 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 7E-7 ;OR = 0.044). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000002286 19197348 NONHSAT160789.1 rs7396835 T N/A 2,906 kosraen individuals EFO_0004530 N/A Associate Quantitative traits rs7396835-T of NONHSAT160789.1 is significantly associated with the quantitative traits by using GWAS analysis in 2,906 kosraen individuals(p-value = 1E-9 ;OR = 0.23). 0.4 Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae. NCRV0000000277 26830138 NONHSAT162001.1 rs117154046 A N/A 2,478 european ancestry cases//979 ancestry controls both from the same 1,070 families EFO_0000249 N/A Associate Alzheimer disease and age of onset rs117154046-A of NONHSAT162001.1 is significantly associated with the alzheimer disease and age of onset by using GWAS analysis in 2,478 european ancestry cases//979 ancestry controls both from the same 1,070 families(p-value = 6E-7 ;OR = 5.001). 0.4 Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3. NCRV0000000058 23535729 NONHSAT182525.1 rs4849887 C N/A 10,052 european ancestry cases//12,575 european ancestry controls; 45,290 european ancestry cases//41,880 european ancestry controls EFO_0000305 N/A Associate Breast cancer rs4849887-C of NONHSAT182525.1 is significantly associated with the breast cancer by using GWAS analysis in 10,052 european ancestry cases//12,575 european ancestry controls; 45,290 european ancestry cases//41,880 european ancestry controls(p-value = 4E-11 ;OR = 1.1). 0.4 Large-scale genotyping identifies 41 new loci associated with breast cancer risk. NCRV0000000733 27117709 NONHSAT215675.1 rs13365225 ? N/A 4,939 european ancestry estrogen receptor-negative cases//14,352 european ancestry controls; 7,333 european ancestry estrogen receptor-negative cases//7,797 european ancestry brca1 mutation carrier cases//7,455 european ancestry brca1 mutation carrier controls//42,468 european ancestry controls EFO_0000305 N/A Associate Breast cancer rs13365225-? of NONHSAT215675.1 is significantly associated with the breast cancer by using GWAS analysis in 4,939 european ancestry estrogen receptor-negative cases//14,352 european ancestry controls; 7,333 european ancestry estrogen receptor-negative cases//7,797 european ancestry brca1 mutation carrier cases//7,455 european ancestry brca1 mutation carrier controls//42,468 european ancestry controls(p-value = 7E-6 ;OR = 1.0416667). 0.4 Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer. NCRV0000000059 20167578 NONHSAT061051.2 rs3093030 T N/A up to 9,813 european ancestry individuals HP_0001658 N/A Associate Soluble levels of adhesion molecules rs3093030-T of NONHSAT061051.2 is significantly associated with the soluble levels of adhesion molecules by using GWAS analysis in up to 9,813 european ancestry individuals(p-value = 4E-23 ;OR = 4.15). 0.4 Large-scale genomic studies reveal central role of ABO in sP-selectin and sICAM-1 levels. NCRV0000003943 25760438 NONHSAT166709.1 rs12865097 ? N/A 361 martu australian aboriginal ancestry individuals EFO_0001073 N/A Associate Body mass index rs12865097-? of NONHSAT166709.1 is significantly associated with the body mass index by using GWAS analysis in 361 martu australian aboriginal ancestry individuals(p-value = 7E-6 ;OR = 0.78). 0.4 First genome-wide association study in an Australian aboriginal population provides insights into genetic risk factors for body mass index and type 2 diabetes. NCRV0000002987 23251661 NONHSAT068442.2 rs58632700 A N/A 815 hispanic children from 263 families EFO_0004730 N/A Associate Obesity-related traits rs58632700-A of NONHSAT068442.2 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 1E-7 ;OR = 0.05). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. NCRV0000000304 21203500 NONHSAT031256.2 rs7953249 G N/A 2,559 european ancestry individuals EFO_0004999 N/A Associate N-glycan levels rs7953249-G of NONHSAT031256.2 is significantly associated with the n-glycan levels by using GWAS analysis in 2,559 european ancestry individuals(p-value = 2E-8 ;OR = 0.17). 0.4 Genomics meets glycomics-the first GWAS study of human N-Glycome identifies HNF1alpha as a master regulator of plasma protein fucosylation. NCRV0000002088 20966902 NONHSAT007287.2 rs6670655 T N/A 1,792 filipino ancestry females EFO_0004339 N/A Associate Height rs6670655-T of NONHSAT007287.2 is significantly associated with the height by using GWAS analysis in 1,792 filipino ancestry females(p-value = 3E-6 ;OR = 1.26). 0.4 Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women. NCRV0000003687 27863252 NONHSAT208858.1 rs6917586 A N/A 169,822 european ancestry individuals EFO_0007987 N/A Associate Granulocyte count rs6917586-A of NONHSAT208858.1 is significantly associated with the granulocyte count by using GWAS analysis in 169,822 european ancestry individuals(p-value = 2E-11 ;OR = 0.02532662). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002429 27863252 NONHSAT208858.1 rs6917586 A N/A 169,219 european ancestry individuals EFO_0007988 N/A Associate Myeloid white cell count rs6917586-A of NONHSAT208858.1 is significantly associated with the myeloid white cell count by using GWAS analysis in 169,219 european ancestry individuals(p-value = 8E-12 ;OR = 0.02577226). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000517 19343178 NONHSAT215817.1 rs7815788 ? N/A 12,611 european ancestry individuals; 7,187 european ancestry individuals EFO_0004339 N/A Associate Height rs7815788-? of NONHSAT215817.1 is significantly associated with the height by using GWAS analysis in 12,611 european ancestry individuals; 7,187 european ancestry individuals(p-value = 5E-6 ;OR = 0.07). 0.4 Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size. NCRV0000000614 28240269 NONHSAT181094.1 rs11553746 T N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008213 N/A Associate Blood protein levels rs11553746-T of NONHSAT181094.1 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 1E-257 ;OR = 1.237). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. NCRV0000001525 22923026 NONHSAT216393.1 rs13254738 C N/A 1,033 japanese ancestry cases//1,042 japanese ancestry controls//1,043 latino cases//1,057 latino controls; 1,583 japanese ancestry cases//3,386 japanese ancestry controls//1,854 european ancestry cases//3,748 european ancestry controls EFO_0001663 N/A Associate Prostate cancer rs13254738-C of NONHSAT216393.1 is significantly associated with the prostate cancer by using GWAS analysis in 1,033 japanese ancestry cases//1,042 japanese ancestry controls//1,043 latino cases//1,057 latino controls; 1,583 japanese ancestry cases//3,386 japanese ancestry controls//1,854 european ancestry cases//3,748 european ancestry controls(p-value = 4E-10 ;OR = 1.59). 0.4 Evaluating genetic risk for prostate cancer among Japanese and Latinos. NCRV0000002626 25241909 NONHSAT198812.1 rs2869967 C N/A up to 1,662 european ancestry cases//up to 3,520 european ancestry smoker controls//182 african american cases//1,749 african american smoker controls EFO_0006505 N/A Associate Chronic bronchitis and chronic obstructive pulmonary disease rs2869967-C of NONHSAT198812.1 is significantly associated with the chronic bronchitis and chronic obstructive pulmonary disease by using GWAS analysis in up to 1,662 european ancestry cases//up to 3,520 european ancestry smoker controls//182 african american cases//1,749 african american smoker controls(p-value = 6E-10 ;OR = 1.38). 0.4 Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease. NCRV0000000574 23241943 NONHSAT179156.1 rs2980976 A N/A up to 421 european ancestry schizophrenia cases//up to 214 african american individuals//up to 103 individuals GO_0097336 N/A Associate Response to antipsychotic treatment rs2980976-A of NONHSAT179156.1 is significantly associated with the response to antipsychotic treatment by using GWAS analysis in up to 421 european ancestry schizophrenia cases//up to 214 african american individuals//up to 103 individuals(p-value = 3E-7 ;OR = ?). 0.4 Genome-wide association study of patient-rated and clinician-rated global impression of severity during antipsychotic treatment. NCRV0000000811 26305897 NONHSAT155769.1 rs1298908 G N/A 1,564 african american cases//369 african american diabetic controls//1,288 african american non-diabetic controls//538 american indian ancestry cases//319 american indian ancestry diabetic controls//342 european ancestry cases//404 european ancestry diabetic controls//779 mexican ancestry cases//594 mexican ancestry diabetic controls; 950 african american cases//50 african american diabetic controls//1,887 african american non-diabetic controls//471 american indian ancestry cases//340 american indian ancestry diabetic controls//486 american indian ancestry non-diabetic controls//582 european ancestry ancestry cases//205 european ancestry diabetic controls//2,568 european ancestry non-diabetic controls EFO_0000401 N/A Associate Diabetic kidney disease rs1298908-G of NONHSAT155769.1 is significantly associated with the diabetic kidney disease by using GWAS analysis in 1,564 african american cases//369 african american diabetic controls//1,288 african american non-diabetic controls//538 american indian ancestry cases//319 american indian ancestry diabetic controls//342 european ancestry cases//404 european ancestry diabetic controls//779 mexican ancestry cases//594 mexican ancestry diabetic controls; 950 african american cases//50 african american diabetic controls//1,887 african american non-diabetic controls//471 american indian ancestry cases//340 american indian ancestry diabetic controls//486 american indian ancestry non-diabetic controls//582 european ancestry ancestry cases//205 european ancestry diabetic controls//2,568 european ancestry non-diabetic controls(p-value = 9E-7 ;OR = 1.36). 0.4 Genome-Wide Association and Trans-ethnic Meta-Analysis for Advanced Diabetic Kidney Disease: Family Investigation of Nephropathy and Diabetes (FIND). NCRV0000000402 27863252 NONHSAT222167.1 rs726657 T N/A 172,275 european ancestry individuals EFO_0004842 N/A Associate Eosinophil counts rs726657-T of NONHSAT222167.1 is significantly associated with the eosinophil counts by using GWAS analysis in 172,275 european ancestry individuals(p-value = 3E-11 ;OR = 0.02429508). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002111 28736931 NONHSAT201394.1 rs6847878 ? N/A 781 european ancestry individuals//138 african american ancestry individuals//345 unknown ancestry individuals; EFO_0001360 fenofibrate Associate Total cholesterol change in response to fenofibrate in statin-treated type 2 diabetes rs6847878-? of NONHSAT201394.1 is significantly associated with the total cholesterol change in response to fenofibrate in statin-treated type 2 diabetes by using GWAS analysis in 781 european ancestry individuals//138 african american ancestry individuals//345 unknown ancestry individuals; (p-value = 1E-6 ;OR = 0.062). 0.4 Genetic Variants in HSD17B3, SMAD3, and IPO11 Impact Circulating Lipids in Response to Fenofibrate in Individuals With Type 2 Diabetes. NCRV0000000072 27021288 NONHSAT206229.1 rs76037120 C N/A 1,060 european ancestry adult cases HP_0000718 N/A Associate Aggressiveness in attention deficit hyperactivity disorder rs76037120-C of NONHSAT206229.1 is significantly associated with the aggressiveness in attention deficit hyperactivity disorder by using GWAS analysis in 1,060 european ancestry adult cases(p-value = 3E-6 ;OR = 3.224). 0.4 Genome-wide analyses of aggressiveness in attention-deficit hyperactivity disorder. NCRV0000003162 23648065 NONHSAT164697.1 rs894734 G N/A 294 japanese ancestry cases//2,249 japanese ancestry controls DOID_615 all antimetabolite drugs Associate Adverse response to chemotherapy (neutropenia/leucopenia) rs894734-G of NONHSAT164697.1 is significantly associated with the adverse response to chemotherapy (neutropenia/leucopenia) by using GWAS analysis in 294 japanese ancestry cases//2,249 japanese ancestry controls(p-value = 4E-6 ;OR = 1.619). 0.4 Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan. NCRV0000001704 26752265 NONHSAT106513.2 rs2745572 A N/A 3,853 european ancestry cases//33,480 european ancestry controls; 2,137 european ancestry cases//6,699 european ancestry controls//1,037 singaporean chinese ancestry cases// 2,543 singaporean chinese ancestry controls EFO_0004190 N/A Associate Glaucoma (high intraocular pressure) rs2745572-A of NONHSAT106513.2 is significantly associated with the glaucoma (high intraocular pressure) by using GWAS analysis in 3,853 european ancestry cases//33,480 european ancestry controls; 2,137 european ancestry cases//6,699 european ancestry controls//1,037 singaporean chinese ancestry cases// 2,543 singaporean chinese ancestry controls(p-value = 3E-9 ;OR = ?). 0.4 Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma. NCRV0000000522 27067015 NONHSAT177666.1 rs1187256 T N/A 91,370 european ancestry individuals//15,346 individuals EFO_0007660 N/A Associate Neuroticism rs1187256-T of NONHSAT177666.1 is significantly associated with the neuroticism by using GWAS analysis in 91,370 european ancestry individuals//15,346 individuals(p-value = 2E-8 ;OR = 0.12). 0.4 Genome-wide analysis of over 106 000 individuals identifies 9 neuroticism-associated loci. NCRV0000001970 29186428 NONHSAT053947.2 rs5848 T N/A 1,963 european ancestry individuals//848 sorbian (founder/genetic isolate) individuals; 1800 european ancestry individuals EFO_0004625 N/A Associate Progranulin levels rs5848-T of NONHSAT053947.2 is significantly associated with the progranulin levels by using GWAS analysis in 1,963 european ancestry individuals//848 sorbian (founder/genetic isolate) individuals; 1800 european ancestry individuals(p-value = 5E-14 ;OR = 0.0665). 0.4 Genome-wide meta-analysis identifies novel determinants of circulating serum progranulin. NCRV0000003883 18758464 NONHSAT003779.2 rs11209026 ? N/A 1,011 european ancestry cases//4,250 european ancestry controls; 1,922 european ancestry cases//14,124 european ancestry controls EFO_0003767 N/A Associate Inflammatory bowel disease rs11209026-? of NONHSAT003779.2 is significantly associated with the inflammatory bowel disease by using GWAS analysis in 1,011 european ancestry cases//4,250 european ancestry controls; 1,922 european ancestry cases//14,124 european ancestry controls(p-value = 7E-11 ;OR = 2.56). 0.4 Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease. NCRV0000002347 28448500 NONHSAT141480.2 rs2650492 ? N/A 2,518 african american women//86,278 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//55,137 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men EFO_0001073 joint analysis main effects and physical activity interaction Associate Body mass index (joint analysis main effects and physical activity interaction) rs2650492-? of NONHSAT141480.2 is significantly associated with the body mass index (joint analysis main effects and physical activity interaction) by using GWAS analysis in 2,518 african american women//86,278 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//55,137 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men(p-value = 2E-7 ;OR = ?). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. NCRV0000003371 26034056 NONHSAT216393.1 rs1016343 T N/A 6,406 european ancestry cases//601 african american cases//288 east asian ancestry cases//488 latino cases30,866 european ancestry controls//1,650 african american controls//2,938 east asian ancestry controls//3,141 latino controls; 4,599 european ancestry cases//2,265 african american cases//2,940 european ancestry controls//2,414 african american controls EFO_0001663 N/A Associate Prostate cancer rs1016343-T of NONHSAT216393.1 is significantly associated with the prostate cancer by using GWAS analysis in 6,406 european ancestry cases//601 african american cases//288 east asian ancestry cases//488 latino cases30,866 european ancestry controls//1,650 african american controls//2,938 east asian ancestry controls//3,141 latino controls; 4,599 european ancestry cases//2,265 african american cases//2,940 european ancestry controls//2,414 african american controls(p-value = 5E-21 ;OR = 1.28). 0.4 A large multiethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences. NCRV0000001480 28095793 NONHSAT177262.1 rs4889855 G N/A 768 hispanic children from 260 families; EFO_0004761 N/A Associate Fractional excretion of uric acid rs4889855-G of NONHSAT177262.1 is significantly associated with the fractional excretion of uric acid by using GWAS analysis in 768 hispanic children from 260 families; (p-value = 3E-7 ;OR = 0.29). 0.4 Genetic variation underlying renal uric acid excretion in Hispanic children: the Viva La Familia Study. NCRV0000003849 25390645 NONHSAT204511.1 rs12153327 C N/A 324 african american cases//273 african american controls//757 european ancestry cases//940 european ancestry controls EFO_0006788 N/A Associate Anxiety disorder rs12153327-C of NONHSAT204511.1 is significantly associated with the anxiety disorder by using GWAS analysis in 324 african american cases//273 african american controls//757 european ancestry cases//940 european ancestry controls(p-value = 2E-6 ;OR = 0.064). 0.4 Genome-wide and gene-based association studies of anxiety disorders in European and African American samples. NCRV0000002478 20031603 NONHSAT184816.1 rs10496166 A N/A 2,325 european ancestry individuals EFO_0003777 N/A Associate Rr interval (heart rate) rs10496166-A of NONHSAT184816.1 is significantly associated with the rr interval (heart rate) by using GWAS analysis in 2,325 european ancestry individuals(p-value = 4E-6 ;OR = 0.18). 0.4 A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project. NCRV0000001930 19115949 NONHSAT207105.1 rs2395029 G N/A 275 european ancestry seropositive non-progressors//86 european ancestry seropositive rapid progressors//1,352 european ancestry seronegative controls; (see fellay 2007) EFO_0000765 N/A Associate Aids progression rs2395029-G of NONHSAT207105.1 is significantly associated with the aids progression by using GWAS analysis in 275 european ancestry seropositive non-progressors//86 european ancestry seropositive rapid progressors//1,352 european ancestry seronegative controls; (see fellay 2007)(p-value = 3E-19 ;OR = 3.47). 0.4 Genomewide association study of an AIDS-nonprogression cohort emphasizes the role played by HLA genes (ANRS Genomewide Association Study 02). NCRV0000002828 23967269 NONHSAT183664.1 rs1843834 A N/A 329 korean ancestry d.p.-positive cases//548 korean ancestry d.p.-negative cases EFO_0000270 N/A Associate Ige levels in asthmatics (d.p. specific) rs1843834-A of NONHSAT183664.1 is significantly associated with the ige levels in asthmatics (d.p. specific) by using GWAS analysis in 329 korean ancestry d.p.-positive cases//548 korean ancestry d.p.-negative cases(p-value = 4E-6 ;OR = 2.14). 0.4 A genome-wide association study of total serum and mite-specific IgEs in asthma patients. NCRV0000002524 22036096 NONHSAT007847.2 rs1325195 A N/A 2,315 european ancestry cases//10,032 european ancestry controls EFO_0003956 N/A Associate Ige grass sensitization rs1325195-A of NONHSAT007847.2 is significantly associated with the ige grass sensitization by using GWAS analysis in 2,315 european ancestry cases//10,032 european ancestry controls(p-value = 5E-6 ;OR = 1.17). 0.4 A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order. NCRV0000002483 22889924 NONHSAT214350.1 rs769111 T N/A 778 european ancestry cases//4,414 european ancestry controls//242 ashkenazi jewish cases//354 ashkenazi jewish controls//265 french canadian founder cases//196 french canadian founder controls; 211 latin american cases//285 latin american controls EFO_0004895 N/A Associate Tourette syndrome rs769111-T of NONHSAT214350.1 is significantly associated with the tourette syndrome by using GWAS analysis in 778 european ancestry cases//4,414 european ancestry controls//242 ashkenazi jewish cases//354 ashkenazi jewish controls//265 french canadian founder cases//196 french canadian founder controls; 211 latin american cases//285 latin american controls(p-value = 6E-6 ;OR = 1.23). 0.4 Genome-wide association study of Tourette's syndrome. NCRV0000002523 27863252 NONHSAT143188.2 rs28647874 G N/A 172,952 european ancestry individuals EFO_0004305 N/A Associate Red blood cell count rs28647874-G of NONHSAT143188.2 is significantly associated with the red blood cell count by using GWAS analysis in 172,952 european ancestry individuals(p-value = 1E-15 ;OR = 0.05511777). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003111 28540026 NONHSAT118775.2 rs140364877 ? N/A schizophrenia cases and controls (see ripke//2014)cases//up to 1,190 controls EFO_0000692 N/A Associate Schizophrenia rs140364877-? of NONHSAT118775.2 is significantly associated with the schizophrenia by using GWAS analysis in schizophrenia cases and controls (see ripke//2014)cases//up to 1,190 controls(p-value = 2E-11 ;OR = 1.0869565). 0.4 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. NCRV0000002874 27082954 NONHSAT180638.1 rs4897936 ? N/A 104 european ancestry cases//1,519 european ancestry controls//34 african american cases//520 african american controls EFO_0004265 traffic-related air pollution interaction Associate Peripheral arterial disease (traffic-related air pollution interaction) rs4897936-? of NONHSAT180638.1 is significantly associated with the peripheral arterial disease (traffic-related air pollution interaction) by using GWAS analysis in 104 european ancestry cases//1,519 european ancestry controls//34 african american cases//520 african american controls(p-value = 6E-6 ;OR = 15.79). 0.4 Genetic Variants in the Bone Morphogenic Protein Gene Family Modify the Association between Residential Exposure to Traffic and Peripheral Arterial Disease. NCRV0000003486 20834067 NONHSAT189924.1 rs4468878 ? N/A 1,173 individuals EFO_0004300 N/A Associate Longevity rs4468878-? of NONHSAT189924.1 is significantly associated with the longevity by using GWAS analysis in 1,173 individuals(p-value = 1E-6 ;OR = ?). 0.4 Joint influence of small-effect genetic variants on human longevity. NCRV0000000267 28928442 NONHSAT221073.1 rs7851660 ? N/A 52,487 european ancestry cases//22,017 european ancestry controls EFO_0008408 N/A Associate Strep throat rs7851660-? of NONHSAT221073.1 is significantly associated with the strep throat by using GWAS analysis in 52,487 european ancestry cases//22,017 european ancestry controls(p-value = 4E-6 ;OR = 0.0257). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. NCRV0000003712 22379998 NONHSAT037946.2 rs183266 ? N/A 34 european ancestry lamotrigine-induced hypersensitivity cases//42 european ancestry phenytoin-induced hypersensitivity cases//1,296 european ancestry controls GO_0036277 N/A Associate Adverse response to lamotrigine and phenytoin rs183266-? of NONHSAT037946.2 is significantly associated with the adverse response to lamotrigine and phenytoin by using GWAS analysis in 34 european ancestry lamotrigine-induced hypersensitivity cases//42 european ancestry phenytoin-induced hypersensitivity cases//1,296 european ancestry controls(p-value = 5E-6 ;OR = ?). 0.4 Genome-wide mapping for clinically relevant predictors of lamotrigine- and phenytoin-induced hypersensitivity reactions. NCRV0000003000 26634245 NONHSAT129674.2 rs7016416 T N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs7016416-T of NONHSAT129674.2 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 5E-6 ;OR = 0.044). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000000875 28598434 NONHSAT003179.2 rs13376700 ? N/A 10,784 european ancestry cases//20,406 european ancestry controls; 3,182 european ancestry cases//6,301 european ancestry controls EFO_0000681 N/A Associate Renal cell carcinoma rs13376700-? of NONHSAT003179.2 is significantly associated with the renal cell carcinoma by using GWAS analysis in 10,784 european ancestry cases//20,406 european ancestry controls; 3,182 european ancestry cases//6,301 european ancestry controls(p-value = 5E-10 ;OR = 1.1046). 0.4 Genome-wide association study identifies multiple risk loci for renal cell carcinoma. NCRV0000000496 26686553 NONHSAT018664.2 rs3809060 G N/A 5,295 european ancestry cases//67,510 european ancestry controls; 9,701 european ancestry cases//82,743 european ancestry controls HP_0000023 N/A Associate Inguinal hernia rs3809060-G of NONHSAT018664.2 is significantly associated with the inguinal hernia by using GWAS analysis in 5,295 european ancestry cases//67,510 european ancestry controls; 9,701 european ancestry cases//82,743 european ancestry controls(p-value = 4E-14 ;OR = 1.11). 0.4 A genome-wide association study identifies four novel susceptibility loci underlying inguinal hernia. NCRV0000003906 28334899 NONHSAT207180.1 rs2814982 T N/A 32,576 east asian ancestry individuals//187,365 european ancestry individuals; 10,855 chinese ancestry individuals EFO_0000319 N/A Associate Total cholesterol levels rs2814982-T of NONHSAT207180.1 is significantly associated with the total cholesterol levels by using GWAS analysis in 32,576 east asian ancestry individuals//187,365 european ancestry individuals; 10,855 chinese ancestry individuals(p-value = 2E-13 ;OR = 0.0441). 0.4 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels. NCRV0000002293 27863252 NONHSAT115062.2 rs6920211 C N/A 171,771 european ancestry individuals EFO_0009389 N/A Associate Sum eosinophil basophil counts rs6920211-C of NONHSAT115062.2 is significantly associated with the sum eosinophil basophil counts by using GWAS analysis in 171,771 european ancestry individuals(p-value = 2E-16 ;OR = 0.03382095). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002465 24952745 NONHSAT177151.1 rs17763769 A N/A up to 70,389 european ancestry individuals//up to 672 orcadian individuals; up to 33,316 european ancestry individuals EFO_0004278 N/A Associate Qt interval rs17763769-A of NONHSAT177151.1 is significantly associated with the qt interval by using GWAS analysis in up to 70,389 european ancestry individuals//up to 672 orcadian individuals; up to 33,316 european ancestry individuals(p-value = 5E-11 ;OR = 0.89). 0.4 Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. NCRV0000001526 27089181 NONHSAT004199.2 rs17131635 T N/A 170,911 european ancestry individuals EFO_0007660 N/A Associate Neuroticism rs17131635-T of NONHSAT004199.2 is significantly associated with the neuroticism by using GWAS analysis in 170,911 european ancestry individuals(p-value = 9E-6 ;OR = 0.015904061). 0.4 Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses. NCRV0000000882 28360221 NONHSAT143364.2 rs9980 G N/A 45,889 european ancestry individuals//up to 8,765 asian indian ancestry individuals//up to 7,215 african ancestry individuals; 17,637 european ancestry individuals EFO_0007967 N/A Associate Blood osmolality (transformed sodium) rs9980-G of NONHSAT143364.2 is significantly associated with the blood osmolality (transformed sodium) by using GWAS analysis in 45,889 european ancestry individuals//up to 8,765 asian indian ancestry individuals//up to 7,215 african ancestry individuals; 17,637 european ancestry individuals(p-value = 6E-10 ;OR = 0.06). 0.4 NFAT5 and SLC4A10 Loci Associate with Plasma Osmolality. NCRV0000001273 27089181 NONHSAT157765.1 rs3923857 A N/A 170,911 european ancestry individuals EFO_0007660 N/A Associate Neuroticism rs3923857-A of NONHSAT157765.1 is significantly associated with the neuroticism by using GWAS analysis in 170,911 european ancestry individuals(p-value = 6E-6 ;OR = 0.016911833). 0.4 Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses. NCRV0000003907 23974872 NONHSAT004742.2 rs1198588 T N/A 5,001 european ancestry cases//6,243 european ancestry controls//8,832 cases//12,067 controls; 4,801 european ancestry cases//4,741 european ancestry controls//2,612 european and unknown ancestry cases//15,021 european and unknown ancestry controls//581 trios EFO_0000692 N/A Associate Schizophrenia rs1198588-T of NONHSAT004742.2 is significantly associated with the schizophrenia by using GWAS analysis in 5,001 european ancestry cases//6,243 european ancestry controls//8,832 cases//12,067 controls; 4,801 european ancestry cases//4,741 european ancestry controls//2,612 european and unknown ancestry cases//15,021 european and unknown ancestry controls//581 trios(p-value = 2E-12 ;OR = 1.1249). 0.4 Genome-wide association analysis identifies 13 new risk loci for schizophrenia. NCRV0000003740 23527680 NONHSAT079376.2 rs6057659 A N/A 1,851 individuals; 155 individuals EFO_0003888 N/A Associate Attention deficit hyperactivity disorder (combined symptoms) rs6057659-A of NONHSAT079376.2 is significantly associated with the attention deficit hyperactivity disorder (combined symptoms) by using GWAS analysis in 1,851 individuals; 155 individuals(p-value = 5E-6 ;OR = ?). 0.4 Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits. NCRV0000002207 27863252 NONHSAT219817.1 rs200760632 G N/A 172,378 european ancestry individuals EFO_0007991 N/A Associate Eosinophil percentage of white cells rs200760632-G of NONHSAT219817.1 is significantly associated with the eosinophil percentage of white cells by using GWAS analysis in 172,378 european ancestry individuals(p-value = 2E-11 ;OR = 0.03107506). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000689 26502338 NONHSAT174663.1 rs11644034 G N/A 5,201 european ancestry cases//9,066 european ancestry controls; 2,018 european ancestry cases//6,925 european ancestry controls EFO_0002690 N/A Associate Systemic lupus erythematosus rs11644034-G of NONHSAT174663.1 is significantly associated with the systemic lupus erythematosus by using GWAS analysis in 5,201 european ancestry cases//9,066 european ancestry controls; 2,018 european ancestry cases//6,925 european ancestry controls(p-value = 1E-17 ;OR = 1.25). 0.4 Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus. NCRV0000000777 29064472 NONHSAT161756.1 rs2058205 T N/A 114 african ancestry schizophrenia cases//69 african schizo-affective cases//41 african ancestry bipolar disorder cases//76 african ancestry controls//116 european ancestry schizophrenia cases//86 european ancestry schizo-affective cases//165 european ancestry bipolar disorder cases//182 european ancestry controls EFO_0000677 N/A Associate Anti-saccade response rs2058205-T of NONHSAT161756.1 is significantly associated with the anti-saccade response by using GWAS analysis in 114 african ancestry schizophrenia cases//69 african schizo-affective cases//41 african ancestry bipolar disorder cases//76 african ancestry controls//116 european ancestry schizophrenia cases//86 european ancestry schizo-affective cases//165 european ancestry bipolar disorder cases//182 european ancestry controls(p-value = 7E-6 ;OR = ?). 0.4 Genome-wide association studies of smooth pursuit and antisaccade eye movements in psychotic disorders: findings from the B-SNIP study. NCRV0000000732 22228203 NONHSAT061502.2 rs3764563 ? N/A 1,092 european ancestry individuals GO_1901557 N/A Associate Inflammatory biomarkers rs3764563-? of NONHSAT061502.2 is significantly associated with the inflammatory biomarkers by using GWAS analysis in 1,092 european ancestry individuals(p-value = 3E-7 ;OR = ?). 0.4 A genome-wide association study of inflammatory biomarker changes in response to fenofibrate treatment in the Genetics of Lipid Lowering Drug and Diet Network. NCRV0000000743 20686565 NONHSAT150563.1 rs2642442 T N/A 100,184 european ancestry individuals EFO_0000319 N/A Associate Cholesterol//total rs2642442-T of NONHSAT150563.1 is significantly associated with the cholesterol//total by using GWAS analysis in 100,184 european ancestry individuals(p-value = 5E-13 ;OR = 1.38). 0.4 Biological, clinical and population relevance of 95 loci for blood lipids. NCRV0000000131 27225129 NONHSAT204426.1 rs6882046 ? N/A 405,072 european ancestry individuals EFO_0004784 N/A Associate Educational attainment (college completion) rs6882046-? of NONHSAT204426.1 is significantly associated with the educational attainment (college completion) by using GWAS analysis in 405,072 european ancestry individuals(p-value = 2E-10 ;OR = 1.0438634). 0.4 Genome-wide association study identifies 74 loci associated with educational attainment. NCRV0000002183 28448500 NONHSAT121628.2 rs2430307 ? N/A 561 african american women//352 filipino ancestry women//725 indian ancestry women//19,366 european ancestry women//251 african american men//4,654 indian ancestry men//11,727 european ancestry men//959 european ancestry individuals; 1,437 african american women//5,184 european ancestry women//64 african american men//5,416 european ancestry men EFO_0001073 joint analysis main effects and physical activity interaction Associate Body mass index (joint analysis main effects and physical activity interaction) rs2430307-? of NONHSAT121628.2 is significantly associated with the body mass index (joint analysis main effects and physical activity interaction) by using GWAS analysis in 561 african american women//352 filipino ancestry women//725 indian ancestry women//19,366 european ancestry women//251 african american men//4,654 indian ancestry men//11,727 european ancestry men//959 european ancestry individuals; 1,437 african american women//5,184 european ancestry women//64 african american men//5,416 european ancestry men(p-value = 2E-6 ;OR = ?). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. NCRV0000000637 27564568 NONHSAT208823.1 rs1142345 ? N/A up to 407 european ancestry cases//up to 138 african ancestry cases//up to 251 hispanic cases//up to 57 asian ancestry cases//up to 110 other ancestry cases EFO_0000220 N/A Associate Thiopurine methyltransferase activity in acute lymphoblastic leukemia patients treated with mercaptopurines rs1142345-? of NONHSAT208823.1 is significantly associated with the thiopurine methyltransferase activity in acute lymphoblastic leukemia patients treated with mercaptopurines by using GWAS analysis in up to 407 european ancestry cases//up to 138 african ancestry cases//up to 251 hispanic cases//up to 57 asian ancestry cases//up to 110 other ancestry cases(p-value = 9E-61 ;OR = 7.69). 0.4 Genomewide Approach Validates Thiopurine Methyltransferase Activity Is a Monogenic Pharmacogenomic Trait. NCRV0000003434 24143190 NONHSAT173881.1 rs3803662 T N/A 2,642 japanese ancestry cases//2,099 japanese ancestry controls; 2,885 japanese ancestry cases//3,395 japanese ancestry controls EFO_0000305 N/A Associate Breast cancer rs3803662-T of NONHSAT173881.1 is significantly associated with the breast cancer by using GWAS analysis in 2,642 japanese ancestry cases//2,099 japanese ancestry controls; 2,885 japanese ancestry cases//3,395 japanese ancestry controls(p-value = 3E-11 ;OR = 1.213). 0.4 Genome-wide association study of breast cancer in the Japanese population. NCRV0000003582 27225129 NONHSAT208908.1 rs2179152 T N/A 405,072 european ancestry individuals EFO_0004784 N/A Associate Educational attainment (years of education) rs2179152-T of NONHSAT208908.1 is significantly associated with the educational attainment (years of education) by using GWAS analysis in 405,072 european ancestry individuals(p-value = 9E-9 ;OR = 0.013233004). 0.4 Genome-wide association study identifies 74 loci associated with educational attainment. NCRV0000002295 26053186 NONHSAT167710.1 rs139612726 ? N/A 362 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//438 european ancestry current smoker individuals//449 latino current smoker individuals//704 japanese ancestry current smoker individuals EFO_0001071 in smokers Associate 3-hydroxypropylmercapturic acid levels in smokers rs139612726-? of NONHSAT167710.1 is significantly associated with the 3-hydroxypropylmercapturic acid levels in smokers by using GWAS analysis in 362 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//438 european ancestry current smoker individuals//449 latino current smoker individuals//704 japanese ancestry current smoker individuals(p-value = 8E-8 ;OR = 0.8006). 0.4 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. NCRV0000000333 21107309 NONHSAT164674.1 rs17126180 ? N/A 738 european ancestry//african american//and other ancestry cases EFO_0004350 N/A Associate Response to antipsychotic treatment in schizophrenia (reasoning) rs17126180-? of NONHSAT164674.1 is significantly associated with the response to antipsychotic treatment in schizophrenia (reasoning) by using GWAS analysis in 738 european ancestry//african american//and other ancestry cases(p-value = 9E-7 ;OR = ?). 0.4 Genome-wide pharmacogenomic study of neurocognition as an indicator of antipsychotic treatment response in schizophrenia. NCRV0000002490 28736931 NONHSAT174693.1 rs76069656 ? N/A 781 european ancestry individuals//138 african american ancestry individuals//345 unknown ancestry individuals; EFO_0001360 fenofibrate Associate Triglyceride change in response to fenofibrate in statin-treated type 2 diabetes rs76069656-? of NONHSAT174693.1 is significantly associated with the triglyceride change in response to fenofibrate in statin-treated type 2 diabetes by using GWAS analysis in 781 european ancestry individuals//138 african american ancestry individuals//345 unknown ancestry individuals; (p-value = 5E-7 ;OR = 0.103). 0.4 Genetic Variants in HSD17B3, SMAD3, and IPO11 Impact Circulating Lipids in Response to Fenofibrate in Individuals With Type 2 Diabetes. NCRV0000003065 24024966 NONHSAT059073.2 rs346452 ? N/A up to 2,969 european ancestry individuals EFO_0000649 N/A Associate Periodontitis (pal4q3) rs346452-? of NONHSAT059073.2 is significantly associated with the periodontitis (pal4q3) by using GWAS analysis in up to 2,969 european ancestry individuals(p-value = 2E-6 ;OR = 1.32). 0.4 Genome-wide association study of chronic periodontitis in a general German population. NCRV0000001630 29059683 NONHSAT214854.1 rs17268829 T N/A 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls EFO_0000305 N/A Associate Breast cancer rs17268829-T of NONHSAT214854.1 is significantly associated with the breast cancer by using GWAS analysis in 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls(p-value = 5E-13 ;OR = 1.05). 0.4 Association analysis identifies 65 new breast cancer risk loci. NCRV0000000699 25760438 NONHSAT172678.1 rs189178161 ? N/A 89 martu australian aboriginal ancestry cases//302 martu australian aboriginal ancestry controls EFO_0001360 N/A Associate Type 2 diabetes rs189178161-? of NONHSAT172678.1 is significantly associated with the type 2 diabetes by using GWAS analysis in 89 martu australian aboriginal ancestry cases//302 martu australian aboriginal ancestry controls(p-value = 8E-6 ;OR = 0.64). 0.4 First genome-wide association study in an Australian aboriginal population provides insights into genetic risk factors for body mass index and type 2 diabetes. NCRV0000002785 22197929 NONHSAT192799.1 rs12537 C N/A 1,434 han chinese ancestry cases//4,270 han chinese ancestry controls; 2,703 han chinese ancestry cases//3,464 han chinese ancestry controls EFO_0004194 N/A Associate Iga nephropathy rs12537-C of NONHSAT192799.1 is significantly associated with the iga nephropathy by using GWAS analysis in 1,434 han chinese ancestry cases//4,270 han chinese ancestry controls; 2,703 han chinese ancestry cases//3,464 han chinese ancestry controls(p-value = 1E-11 ;OR = 1.28). 0.4 A genome-wide association study in Han Chinese identifies multiple susceptibility loci for IgA nephropathy. NCRV0000003413 24564958 NONHSAT183033.1 rs2304003 T N/A up to 5,628 european ancestry individuals EFO_0005427 N/A Associate Social communication problems rs2304003-T of NONHSAT183033.1 is significantly associated with the social communication problems by using GWAS analysis in up to 5,628 european ancestry individuals(p-value = 9E-6 ;OR = 0.14). 0.4 Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence. NCRV0000003061 23478653 NONHSAT181360.1 rs13398721 ? N/A 139 individuals EFO_0004829 irinotecan and platinum-based chemotherapy Associate Response to irinotecan and platinum-based chemotherapy in non-small-cell lung cancer rs13398721-? of NONHSAT181360.1 is significantly associated with the response to irinotecan and platinum-based chemotherapy in non-small-cell lung cancer by using GWAS analysis in 139 individuals(p-value = 2E-7 ;OR = 7.1). 0.4 A genome-wide association study of survival in small-cell lung cancer patients treated with irinotecan plus cisplatin chemotherapy. NCRV0000003371 21743057 NONHSAT216393.1 rs1016343 T N/A 2,782 european ancestry cases//4,458 european ancestry controls; 7,358 european ancestry cases//6,732 european ancestry controls EFO_0001663 N/A Associate Prostate cancer rs1016343-T of NONHSAT216393.1 is significantly associated with the prostate cancer by using GWAS analysis in 2,782 european ancestry cases//4,458 european ancestry controls; 7,358 european ancestry cases//6,732 european ancestry controls(p-value = 4E-10 ;OR = 1.31). 0.4 Genome-wide association study identifies new prostate cancer susceptibility loci. NCRV0000003270 28468790 NONHSAT168869.1 rs35946663 ? N/A 483 european ancestry trios//406 european ancestry cases//2,976 european ancestry controls//355 european and other ancestry trios//187 non-european ancestry trios. Orphanet_2445 N/A Associate Conotruncal heart defects (inherited effects) rs35946663-? of NONHSAT168869.1 is significantly associated with the conotruncal heart defects (inherited effects) by using GWAS analysis in 483 european ancestry trios//406 european ancestry cases//2,976 european ancestry controls//355 european and other ancestry trios//187 non-european ancestry trios.(p-value = 5E-6 ;OR = 1.272462). 0.4 Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects. NCRV0000002806 29083406 NONHSAT208977.1 rs2854001 A N/A 180,129 european ancestry cases//180,709 european ancestry controls EFO_0003785 N/A Associate Allergic disease (asthma//hay fever or eczema) rs2854001-A of NONHSAT208977.1 is significantly associated with the allergic disease (asthma//hay fever or eczema) by using GWAS analysis in 180,129 european ancestry cases//180,709 european ancestry controls(p-value = 1E-19 ;OR = 1.059). 0.4 Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology. NCRV0000001270 27989323 NONHSAT093840.2 rs1656939 T N/A 3,636 finnish ancestry individuals EFO_0005140 N/A Associate Interleukin-18 levels rs1656939-T of NONHSAT093840.2 is significantly associated with the interleukin-18 levels by using GWAS analysis in 3,636 finnish ancestry individuals(p-value = 2E-6 ;OR = 0.1132). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. NCRV0000001248 21841780 NONHSAT208982.1 rs1521 T N/A 1,468 chinese ancestry cases//1,490 chinese ancestry controls; 3,994 chinese ancestry cases//3,510 chinese ancestry controls EFO_0004237 N/A Associate Graves' disease rs1521-T of NONHSAT208982.1 is significantly associated with the graves' disease by using GWAS analysis in 1,468 chinese ancestry cases//1,490 chinese ancestry controls; 3,994 chinese ancestry cases//3,510 chinese ancestry controls(p-value = 2E-65 ;OR = 1.92). 0.4 A genome-wide association study identifies two new risk loci for Graves' disease. NCRV0000002686 28054174 NONHSAT218894.1 rs55658222 ? N/A 83 asian ancestry cases//1,173 asian ancestry case-parent trios//161 asian ancestry controls,170 european ancestry cases//988 european ancestry case-parent trios//835 european ancestry controls//570 latino or african cases//629 latino or african case-parent trios//704 latino or african controls//21 case-parent trios. EFO_0003959 N/A Associate Cleft lip with or without cleft palate rs55658222-? of NONHSAT218894.1 is significantly associated with the cleft lip with or without cleft palate by using GWAS analysis in 83 asian ancestry cases//1,173 asian ancestry case-parent trios//161 asian ancestry controls,170 european ancestry cases//988 european ancestry case-parent trios//835 european ancestry controls//570 latino or african cases//629 latino or african case-parent trios//704 latino or african controls//21 case-parent trios.(p-value = 8E-44 ;OR = 2.13). 0.4 Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate. NCRV0000002762 23319000 NONHSAT150340.1 rs13303128 C N/A up to 398 european ancestry individuals EFO_0005133 N/A Associate Metabolite levels (mhpg) rs13303128-C of NONHSAT150340.1 is significantly associated with the metabolite levels (mhpg) by using GWAS analysis in up to 398 european ancestry individuals(p-value = 9E-6 ;OR = 0.2833). 0.4 Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid. NCRV0000001929 26252872 NONHSAT180382.1 rs113393842 C N/A 370 european and other ancestry apoee4 non-carriers EFO_0000249 N/A Associate Cerebral amyloid deposition in apoee4 non-carriers (pet imaging) rs113393842-C of NONHSAT180382.1 is significantly associated with the cerebral amyloid deposition in apoee4 non-carriers (pet imaging) by using GWAS analysis in 370 european and other ancestry apoee4 non-carriers(p-value = 8E-7 ;OR = 0.3822). 0.4 Variations in the FRA10AC1 Fragile Site and 15q21 Are Associated with Cerebrospinal Fluid Abeta1-42 Level. NCRV0000003564 18776911 NONHSAT067101.2 rs492602 A N/A 1,658 european ancestry female individuals; 1,059 european ancestry female individuals EFO_0004620 N/A Associate Vitamin b12 levels rs492602-A of NONHSAT067101.2 is significantly associated with the vitamin b12 levels by using GWAS analysis in 1,658 european ancestry female individuals; 1,059 european ancestry female individuals(p-value = 5E-17 ;OR = 0.09). 0.4 Common variants of FUT2 are associated with plasma vitamin B12 levels. NCRV0000001023 20686565 NONHSAT179794.1 rs439401 T N/A 96,598 european ancestry individuals EFO_0000319 N/A Associate Triglycerides rs439401-T of NONHSAT179794.1 is significantly associated with the triglycerides by using GWAS analysis in 96,598 european ancestry individuals(p-value = 1E-30 ;OR = 5.5). 0.4 Biological, clinical and population relevance of 95 loci for blood lipids. NCRV0000003912 26780889 NONHSAT159718.1 rs2367970 G N/A 4,383 mexican ancestry individuals; 7,876 latin american/hispanic individuals// european ancestry individuals (global lipids genetics consortium et al//2013) EFO_0000319 N/A Associate Hdl cholesterol rs2367970-G of NONHSAT159718.1 is significantly associated with the hdl cholesterol by using GWAS analysis in 4,383 mexican ancestry individuals; 7,876 latin american/hispanic individuals// european ancestry individuals (global lipids genetics consortium et al//2013)(p-value = 8E-10 ;OR = 0.097). 0.4 Meta-analysis of lipid-traits in Hispanics identifies novel loci, population-specific effects, and tissue-specific enrichment of eQTLs. NCRV0000003329 21998595 NONHSAT208667.1 rs2224391 A N/A 20,427 african ancestry individuals; up to 16,436 african american individuals EFO_0004339 N/A Associate Height rs2224391-A of NONHSAT208667.1 is significantly associated with the height by using GWAS analysis in 20,427 african ancestry individuals; up to 16,436 african american individuals(p-value = 3E-6 ;OR = 0.049). 0.4 Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry. NCRV0000001001 25646338 NONHSAT159177.1 rs174535 T N/A 8,013 european ancestry individuals; 1,082 african american individuals//669 chinese ancestry individuals//657 hispanic individuals EFO_0006821 N/A Associate Trans fatty acid levels rs174535-T of NONHSAT159177.1 is significantly associated with the trans fatty acid levels by using GWAS analysis in 8,013 european ancestry individuals; 1,082 african american individuals//669 chinese ancestry individuals//657 hispanic individuals(p-value = 1E-13 ;OR = 0.0031). 0.4 Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium. NCRV0000000040 28333968 NONHSAT200526.1 rs9968300 C N/A 1,680 danish ancestry children and adolescents; 2,129 danish ancestry children and adolescents EFO_0001073 N/A Associate Plasma thyroid-stimulating hormone levels rs9968300-C of NONHSAT200526.1 is significantly associated with the plasma thyroid-stimulating hormone levels by using GWAS analysis in 1,680 danish ancestry children and adolescents; 2,129 danish ancestry children and adolescents(p-value = 2E-11 ;OR = 0.194). 0.4 A genome-wide association study of thyroid stimulating hormone and free thyroxine in Danish children and adolescents. NCRV0000002346 23740937 NONHSAT171024.1 rs7172677 ? N/A up to 2,761 european ancestry systemic sclerosis cases//769 european ancestry systemic lupus erythematosus cases//7,381 european ancestry controls; up to 1,578 european ancestry systemic sclerosis cases//1,727 european ancestry systemic lupus erythematosus cases//6,893 european ancestry controls EFO_0000717 N/A Associate Systemic lupus erythematosus and systemic sclerosis rs7172677-? of NONHSAT171024.1 is significantly associated with the systemic lupus erythematosus and systemic sclerosis by using GWAS analysis in up to 2,761 european ancestry systemic sclerosis cases//769 european ancestry systemic lupus erythematosus cases//7,381 european ancestry controls; up to 1,578 european ancestry systemic sclerosis cases//1,727 european ancestry systemic lupus erythematosus cases//6,893 european ancestry controls(p-value = 3E-8 ;OR = 1.207). 0.4 A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci. NCRV0000003164 28416818 NONHSAT157147.1 rs7394190 G N/A 7,323 european ancestry cases//102,776 european ancestry controls.; EFO_0000275 N/A Associate Incident atrial fibrillation rs7394190-G of NONHSAT157147.1 is significantly associated with the incident atrial fibrillation by using GWAS analysis in 7,323 european ancestry cases//102,776 european ancestry controls.; (p-value = 3E-8 ;OR = 1.15). 0.4 Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation. NCRV0000003152 27325353 NONHSAT054540.2 rs2671668 A N/A 9,822 european ancestry individuals EFO_0007999 N/A Associate Lower body strength rs2671668-A of NONHSAT054540.2 is significantly associated with the lower body strength by using GWAS analysis in 9,822 european ancestry individuals(p-value = 9E-6 ;OR = 4.46). 0.4 GWAS analysis of handgrip and lower body strength in older adults in the CHARGE consortium. NCRV0000002309 29210060 NONHSAT198719.1 rs17248137 G N/A 523 european ancestry individuals; 109 brazilian ancestry individuals EFO_0000637 N/A Associate Overall survival in osteosarcoma rs17248137-G of NONHSAT198719.1 is significantly associated with the overall survival in osteosarcoma by using GWAS analysis in 523 european ancestry individuals; 109 brazilian ancestry individuals(p-value = 2E-6 ;OR = 2.14). 0.4 Genome-wide association study identifies the GLDC/IL33 locus associated with survival of osteosarcoma patients. NCRV0000003337 27997041 NONHSAT173433.1 rs12445022 A N/A 2,275 european ancestry cases//12,285 european ancestry controls; 1,928 european ancestry cases//38,443 european ancestry controls EFO_1001504 N/A Associate Small vessel stroke rs12445022-A of NONHSAT173433.1 is significantly associated with the small vessel stroke by using GWAS analysis in 2,275 european ancestry cases//12,285 european ancestry controls; 1,928 european ancestry cases//38,443 european ancestry controls(p-value = 3E-9 ;OR = 1.16). 0.4 Genetic variation at 16q24.2 is associated with small vessel stroke. NCRV0000000622 27863252 NONHSAT029933.2 rs4761702 C N/A 170,548 european ancestry individuals EFO_0007986 N/A Associate Immature fraction of reticulocytes rs4761702-C of NONHSAT029933.2 is significantly associated with the immature fraction of reticulocytes by using GWAS analysis in 170,548 european ancestry individuals(p-value = 8E-9 ;OR = 0.02113317). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002506 23455636 NONHSAT060783.2 rs2230199 C N/A 6,713 european ancestry cases//48,402 european ancestry contols//110 southern indian ancestry cases//119 southern indian ancestry controls//827 japanese ancestry cases//3,323 japanese ancestry controls; 9,070 european ancestry cases//7,683 european ancestry contols//461 east asian ancestry cases//547 east asian ancestry controls EFO_0001365 N/A Associate Age-related macular degeneration rs2230199-C of NONHSAT060783.2 is significantly associated with the age-related macular degeneration by using GWAS analysis in 6,713 european ancestry cases//48,402 european ancestry contols//110 southern indian ancestry cases//119 southern indian ancestry controls//827 japanese ancestry cases//3,323 japanese ancestry controls; 9,070 european ancestry cases//7,683 european ancestry contols//461 east asian ancestry cases//547 east asian ancestry controls(p-value = 1E-41 ;OR = 1.42). 0.4 Seven new loci associated with age-related macular degeneration. NCRV0000001263 21051598 NONHSAT207105.1 rs2255221 T N/A 516 european cases//1,196 european controls//341 african american cases//892 african american controls//117 hispanic cases//560 hispanic controls EFO_0000180 N/A Associate Hiv-1 control rs2255221-T of NONHSAT207105.1 is significantly associated with the hiv-1 control by using GWAS analysis in 516 european cases//1,196 european controls//341 african american cases//892 african american controls//117 hispanic cases//560 hispanic controls(p-value = 4E-14 ;OR = 2.7). 0.4 The major genetic determinants of HIV-1 control affect HLA class I peptide presentation. NCRV0000001011 24162737 NONHSAT211955.1 rs2718058 A N/A 17,008 european ancestry cases//37,154 european ancestry controls; 8,572 european ancestry cases//11,312 european ancestry controls EFO_0000249 N/A Associate Alzheimer's disease (late onset) rs2718058-A of NONHSAT211955.1 is significantly associated with the alzheimer's disease (late onset) by using GWAS analysis in 17,008 european ancestry cases//37,154 european ancestry controls; 8,572 european ancestry cases//11,312 european ancestry controls(p-value = 5E-9 ;OR = 1.0753). 0.4 Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. NCRV0000000996 19305409 NONHSAT176516.1 rs17779747 T N/A 15,842 european ancestry individuals; up to 13,602 individuals EFO_0004278 N/A Associate Qt interval rs17779747-T of NONHSAT176516.1 is significantly associated with the qt interval by using GWAS analysis in 15,842 european ancestry individuals; up to 13,602 individuals(p-value = 6E-12 ;OR = 1.02). 0.4 Common variants at ten loci modulate the QT interval duration in the QTSCD Study. NCRV0000003734 27082954 NONHSAT182899.1 rs6748245 ? N/A 104 european ancestry cases//1,519 european ancestry controls//34 african american cases//520 african american controls EFO_0004265 traffic-related air pollution interaction Associate Peripheral arterial disease (traffic-related air pollution interaction) rs6748245-? of NONHSAT182899.1 is significantly associated with the peripheral arterial disease (traffic-related air pollution interaction) by using GWAS analysis in 104 european ancestry cases//1,519 european ancestry controls//34 african american cases//520 african american controls(p-value = 2E-6 ;OR = 51.1). 0.4 Genetic Variants in the Bone Morphogenic Protein Gene Family Modify the Association between Residential Exposure to Traffic and Peripheral Arterial Disease. NCRV0000003922 28334899 NONHSAT210564.1 rs2239619 A N/A 32,576 east asian ancestry individuals//187,365 european ancestry individuals; 10,855 chinese ancestry individuals EFO_0000319 N/A Associate Total cholesterol levels rs2239619-A of NONHSAT210564.1 is significantly associated with the total cholesterol levels by using GWAS analysis in 32,576 east asian ancestry individuals//187,365 european ancestry individuals; 10,855 chinese ancestry individuals(p-value = 3E-8 ;OR = 0.0186). 0.4 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels. NCRV0000002839 28928442 NONHSAT197437.1 rs4682463 ? N/A 40,600 european ancestry cases//90,039 european ancestry controls EFO_0008410 N/A Associate Pneumonia rs4682463-? of NONHSAT197437.1 is significantly associated with the pneumonia by using GWAS analysis in 40,600 european ancestry cases//90,039 european ancestry controls(p-value = 4E-6 ;OR = 0.156). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. NCRV0000003318 23563607 NONHSAT103742.2 rs10058074 A N/A 8,097 european ancestry tall individuals//8,099 european ancestry short individuals; 4,872 european ancestry tall individuals//4,831 european ancestry short individuals EFO_0004339 N/A Associate Height rs10058074-A of NONHSAT103742.2 is significantly associated with the height by using GWAS analysis in 8,097 european ancestry tall individuals//8,099 european ancestry short individuals; 4,872 european ancestry tall individuals//4,831 european ancestry short individuals(p-value = 4E-12 ;OR = 1.15). 0.4 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. NCRV0000000074 28067908 NONHSAT206871.1 rs17119 ? N/A 25,042 european and unknown ancestry cases//34,915 european and unknown ancestry controls EFO_0003767 N/A Associate Inflammatory bowel disease rs17119-? of NONHSAT206871.1 is significantly associated with the inflammatory bowel disease by using GWAS analysis in 25,042 european and unknown ancestry cases//34,915 european and unknown ancestry controls(p-value = 9E-11 ;OR = ?). 0.4 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. NCRV0000003320 28928442 NONHSAT149895.1 rs144824089 ? N/A 60,098 european ancestry cases//113,323 european ancestry controls EFO_0007924 N/A Associate Tonsillectomy rs144824089-? of NONHSAT149895.1 is significantly associated with the tonsillectomy by using GWAS analysis in 60,098 european ancestry cases//113,323 european ancestry controls(p-value = 4E-6 ;OR = 0.7571). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. NCRV0000002185 26192919 NONHSAT186550.1 rs35320439 G N/A 5,956 european ancestry cases//14,927 european ancestry controls; 14,594 european ancestry cases//26,715 european ancestry controls//151 iranian ancestry cases//342 iranian ancestry controls//184 indian ancestry cases//990 indian ancestry controls//1,690 east asian ancestry cases//3,719 east asian ancestry controls EFO_0000384 N/A Associate Crohn's disease rs35320439-G of NONHSAT186550.1 is significantly associated with the crohn's disease by using GWAS analysis in 5,956 european ancestry cases//14,927 european ancestry controls; 14,594 european ancestry cases//26,715 european ancestry controls//151 iranian ancestry cases//342 iranian ancestry controls//184 indian ancestry cases//990 indian ancestry controls//1,690 east asian ancestry cases//3,719 east asian ancestry controls(p-value = 1E-9 ;OR = 1.0876893). 0.4 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. NCRV0000001450 27989323 NONHSAT185684.1 rs145299843 C N/A 3,483 finnish ancestry individuals EFO_0005140 N/A Associate Interleukin-16 levels rs145299843-C of NONHSAT185684.1 is significantly associated with the interleukin-16 levels by using GWAS analysis in 3,483 finnish ancestry individuals(p-value = 3E-6 ;OR = 0.5472). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. NCRV0000000210 25378659 NONHSAT103342.2 rs12516208 C N/A 10,129 european ancestry individuals EFO_0006796 N/A Associate Very long-chain saturated fatty acid levels (fatty acid 20:0) rs12516208-C of NONHSAT103342.2 is significantly associated with the very long-chain saturated fatty acid levels (fatty acid 20:0) by using GWAS analysis in 10,129 european ancestry individuals(p-value = 4E-6 ;OR = 4.598). 0.4 Genetic loci associated with circulating levels of very long-chain saturated fatty acids. NCRV0000000189 28604730 NONHSAT157401.1 rs62621207 T N/A 29,266 european ancestry cases//56,450 european ancestry controls EFO_0001071 N/A Associate Lung cancer rs62621207-T of NONHSAT157401.1 is significantly associated with the lung cancer by using GWAS analysis in 29,266 european ancestry cases//56,450 european ancestry controls(p-value = 6E-7 ;OR = 1.1592233). 0.4 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. NCRV0000002349 20190752 NONHSAT206588.1 rs1033180 A N/A 4,533 european ancestry cases//10,750 european ancestry controls; 4,918 european ancestry cases//5,684 european ancestry controls EFO_0001060 N/A Associate Celiac disease rs1033180-A of NONHSAT206588.1 is significantly associated with the celiac disease by using GWAS analysis in 4,533 european ancestry cases//10,750 european ancestry controls; 4,918 european ancestry cases//5,684 european ancestry controls(p-value = 6E-8 ;OR = 1.21). 0.4 Multiple common variants for celiac disease influencing immune gene expression. NCRV0000002413 21909108 NONHSAT179794.1 rs445925 A N/A up to 31,211 european ancestry individuals; 10,553 european ancestry individuals//687 orcadian individuals EFO_0003914 N/A Associate Carotid intima media thickness rs445925-A of NONHSAT179794.1 is significantly associated with the carotid intima media thickness by using GWAS analysis in up to 31,211 european ancestry individuals; 10,553 european ancestry individuals//687 orcadian individuals(p-value = 2E-8 ;OR = 0.0156). 0.4 Meta-analysis of genome-wide association studies from the CHARGE consortium identifies common variants associated with carotid intima media thickness and plaque. NCRV0000000841 23535729 NONHSAT159347.1 rs614367 T N/A 10,052 european ancestry cases//12,575 european ancestry controls; 45,290 european ancestry cases//41,880 european ancestry controls EFO_0000305 N/A Associate Breast cancer rs614367-T of NONHSAT159347.1 is significantly associated with the breast cancer by using GWAS analysis in 10,052 european ancestry cases//12,575 european ancestry controls; 45,290 european ancestry cases//41,880 european ancestry controls(p-value = 2E-63 ;OR = 1.21). 0.4 Large-scale genotyping identifies 41 new loci associated with breast cancer risk. NCRV0000000292 23535732 NONHSAT144742.2 rs684232 G N/A 11,085 european ancestry cases//11,463 european ancestry controls; 19,662 european ancestry cases//19,715 european ancestry controls EFO_0001663 N/A Associate Prostate cancer rs684232-G of NONHSAT144742.2 is significantly associated with the prostate cancer by using GWAS analysis in 11,085 european ancestry cases//11,463 european ancestry controls; 19,662 european ancestry cases//19,715 european ancestry controls(p-value = 5E-15 ;OR = 1.1). 0.4 Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. NCRV0000002288 28448500 NONHSAT176298.1 rs1808192 A N/A 561 african american women//352 filipino ancestry women//725 indian ancestry women//19,366 european ancestry women//251 african american men//4,654 indian ancestry men//11,727 european ancestry men//959 european ancestry individuals; 1,437 african american women//5,184 european ancestry women//64 african american men//5,416 european ancestry men EFO_0001073 joint analysis main effects and physical activity interaction Associate Body mass index rs1808192-A of NONHSAT176298.1 is significantly associated with the body mass index by using GWAS analysis in 561 african american women//352 filipino ancestry women//725 indian ancestry women//19,366 european ancestry women//251 african american men//4,654 indian ancestry men//11,727 european ancestry men//959 european ancestry individuals; 1,437 african american women//5,184 european ancestry women//64 african american men//5,416 european ancestry men(p-value = 2E-8 ;OR = 0.0227). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. NCRV0000003623 29186694 NONHSAT193352.1 rs8138460 ? N/A 436,124 european ancestry individuals EFO_0008354 N/A Associate Cognitive ability rs8138460-? of NONHSAT193352.1 is significantly associated with the cognitive ability by using GWAS analysis in 436,124 european ancestry individuals(p-value = 1E-8 ;OR = 5.712). 0.4 Large-Scale Cognitive GWAS Meta-Analysis Reveals Tissue-Specific Neural Expression and Potential Nootropic Drug Targets. NCRV0000001965 21297633 NONHSAT191891.1 rs2838519 G N/A 6,687 european ancestry cases//19,718 european ancestry controls; 9,628 european ancestry cases//12,917 european ancestry controls EFO_0000729 N/A Associate Ulcerative colitis rs2838519-G of NONHSAT191891.1 is significantly associated with the ulcerative colitis by using GWAS analysis in 6,687 european ancestry cases//19,718 european ancestry controls; 9,628 european ancestry cases//12,917 european ancestry controls(p-value = 6E-11 ;OR = 1.14). 0.4 Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. NCRV0000002149 24315451 NONHSAT053491.2 rs8069176 A N/A 5,131 european ancestry individuals//1,155 hispanic individuals//2,572 individuals EFO_0005536 N/A Associate Fractional exhaled nitric oxide (childhood) rs8069176-A of NONHSAT053491.2 is significantly associated with the fractional exhaled nitric oxide (childhood) by using GWAS analysis in 5,131 european ancestry individuals//1,155 hispanic individuals//2,572 individuals(p-value = 2E-8 ;OR = 0.066). 0.4 Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants. NCRV0000000436 21833088 NONHSAT154377.1 rs1323292 A N/A 9,772 european ancestry cases//16,849 european ancestry controls; 4,218 european ancestry cases//7,296 european ancestry controls EFO_0003885 N/A Associate Multiple sclerosis rs1323292-A of NONHSAT154377.1 is significantly associated with the multiple sclerosis by using GWAS analysis in 9,772 european ancestry cases//16,849 european ancestry controls; 4,218 european ancestry cases//7,296 european ancestry controls(p-value = 2E-8 ;OR = 1.12). 0.4 Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. NCRV0000001452 28448500 NONHSAT186760.1 rs6752378 ? N/A 561 african american women//352 filipino ancestry women//725 indian ancestry women//19,366 european ancestry women//251 african american men//4,654 indian ancestry men//11,727 european ancestry men//959 european ancestry individuals; 1,437 african american women//5,184 european ancestry women//64 african american men//5,416 european ancestry men EFO_0001073 joint analysis main effects and physical activity interaction Associate Body mass index (joint analysis main effects and physical activity interaction) rs6752378-? of NONHSAT186760.1 is significantly associated with the body mass index (joint analysis main effects and physical activity interaction) by using GWAS analysis in 561 african american women//352 filipino ancestry women//725 indian ancestry women//19,366 european ancestry women//251 african american men//4,654 indian ancestry men//11,727 european ancestry men//959 european ancestry individuals; 1,437 african american women//5,184 european ancestry women//64 african american men//5,416 european ancestry men(p-value = 2E-14 ;OR = ?). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. NCRV0000003289 27863252 NONHSAT175610.1 rs8079549 T N/A 171,542 european ancestry individuals EFO_0007990 N/A Associate Neutrophil percentage of white cells rs8079549-T of NONHSAT175610.1 is significantly associated with the neutrophil percentage of white cells by using GWAS analysis in 171,542 european ancestry individuals(p-value = 1E-9 ;OR = 0.02218288). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000105 27400856 NONHSAT027238.2 rs149104283 T N/A 48 european ancestry cases//18 european ancestry extreme cases//5,583 european ancestry controls; 161 cases//249 clozapine-exposed controls//947 unexposed controls HP_0012235 in treatment-resistant schizophrenia Associate Clozapine-induced agranulocytosis rs149104283-T of NONHSAT027238.2 is significantly associated with the clozapine-induced agranulocytosis by using GWAS analysis in 48 european ancestry cases//18 european ancestry extreme cases//5,583 european ancestry controls; 161 cases//249 clozapine-exposed controls//947 unexposed controls(p-value = 2E-8 ;OR = 4.3198). 0.4 Genome-wide common and rare variant analysis provides novel insights into clozapine-associated neutropenia. NCRV0000003840 26154020 NONHSAT157215.1 rs4980079 T N/A 530 european ancestry cases//926 european ancestry controls Orphanet_282 N/A Associate Frontotemporal dementia rs4980079-T of NONHSAT157215.1 is significantly associated with the frontotemporal dementia by using GWAS analysis in 530 european ancestry cases//926 european ancestry controls(p-value = 5E-6 ;OR = 1.46). 0.4 A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia. NCRV0000002393 27863252 NONHSAT175610.1 rs8079549 T N/A 171,748 european ancestry individuals EFO_0007993 N/A Associate Lymphocyte percentage of white cells rs8079549-T of NONHSAT175610.1 is significantly associated with the lymphocyte percentage of white cells by using GWAS analysis in 171,748 european ancestry individuals(p-value = 5E-9 ;OR = 0.02117945). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003246 27863252 NONHSAT144904.2 rs4455005 A N/A 164,339 european ancestry individuals EFO_0007985 N/A Associate Plateletcrit rs4455005-A of NONHSAT144904.2 is significantly associated with the plateletcrit by using GWAS analysis in 164,339 european ancestry individuals(p-value = 4E-24 ;OR = 0.03903548). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003175 25987655 NONHSAT135763.2 rs7865267 T N/A 3,126 child cases; 182 child cases EFO_0004881 N/A Associate Asparaginase hypersensitivity in acute lymphoblastic leukemia rs7865267 -T of NONHSAT135763.2 is significantly associated with the asparaginase hypersensitivity in acute lymphoblastic leukemia by using GWAS analysis in 3,126 child cases; 182 child cases(p-value = 3E-6 ;OR = 2.012). 0.4 Genome-wide analysis links NFATC2 with asparaginase hypersensitivity. NCRV0000001190 17463249 NONHSAT130429.2 rs564398 T N/A 1,924 european ancestry cases//2,938 european ancestry controls; 3,757 european ancestry cases//5,346 european ancestry controls EFO_0001360 N/A Associate Type 2 diabetes rs564398-T of NONHSAT130429.2 is significantly associated with the type 2 diabetes by using GWAS analysis in 1,924 european ancestry cases//2,938 european ancestry controls; 3,757 european ancestry cases//5,346 european ancestry controls(p-value = 1E-6 ;OR = 1.13). 0.4 Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes. NCRV0000003392 26835600 NONHSAT000719.2 rs11121022 C N/A 38,937 european ancestry morning chronotype individuals//50,346 european ancestry evening chronotype individuals EFO_0004354 N/A Associate Morning vs. evening chronotype rs11121022-C of NONHSAT000719.2 is significantly associated with the morning vs. evening chronotype by using GWAS analysis in 38,937 european ancestry morning chronotype individuals//50,346 european ancestry evening chronotype individuals(p-value = 2E-8 ;OR = 1.07). 0.4 GWAS of 89,283 individuals identifies genetic variants associated with self-reporting of being a morning person. NCRV0000002817 23453885 NONHSAT208965.1 rs3132581 G N/A 6,990 european ancestry bipolar disorder cases//9,227 european ancestry major depressive disorder cases//9,379 european ancestry schizophrenia cases//161 european ancestry autism spectrum disorder cases//4,788 european ancestry autism spectrum disorder trio cases//840 european ancestry attention deficit-hyperactivity disorder cases//1,947 european ancestry attention defcit-hyperactivity disorder trio cases//27,888 european ancestry controls EFO_0000677 N/A Associate Autism spectrum disorder//attention deficit-hyperactivity disorder//bipolar disorder//major depressive disorder//and schizophrenia (combined) rs3132581-G of NONHSAT208965.1 is significantly associated with the autism spectrum disorder//attention deficit-hyperactivity disorder//bipolar disorder//major depressive disorder//and schizophrenia (combined) by using GWAS analysis in 6,990 european ancestry bipolar disorder cases//9,227 european ancestry major depressive disorder cases//9,379 european ancestry schizophrenia cases//161 european ancestry autism spectrum disorder cases//4,788 european ancestry autism spectrum disorder trio cases//840 european ancestry attention deficit-hyperactivity disorder cases//1,947 european ancestry attention defcit-hyperactivity disorder trio cases//27,888 european ancestry controls(p-value = 2E-7 ;OR = ?). 0.4 Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. NCRV0000002303 22359512 NONHSAT034336.2 rs17718828 ? N/A 4,034 european ancestry individuals EFO_0004639 N/A Associate Phospholipid levels (plasma) rs17718828-? of NONHSAT034336.2 is significantly associated with the phospholipid levels (plasma) by using GWAS analysis in 4,034 european ancestry individuals(p-value = 1E-8 ;OR = 0.8). 0.4 Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations. NCRV0000000409 23251661 NONHSAT169602.1 rs17124955 G N/A 815 hispanic children from 263 families EFO_0004326 N/A Associate Obesity-related traits rs17124955-G of NONHSAT169602.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 9E-6 ;OR = 0.05). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. NCRV0000000798 26632684 NONHSAT030391.2 rs3751196 A N/A 6,252 european ancestry individuals GO_0007608 N/A Associate Sense of smell rs3751196-A of NONHSAT030391.2 is significantly associated with the sense of smell by using GWAS analysis in 6,252 european ancestry individuals(p-value = 2E-7 ;OR = 0.07). 0.4 Genome-wide Meta-analysis on the Sense of Smell Among US Older Adults. NCRV0000002173 28448500 NONHSAT112682.2 rs2033529 G N/A 2,518 african american women//86,278 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//55,137 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men EFO_0001073 joint analysis main effects and physical activity interaction Associate Body mass index rs2033529-G of NONHSAT112682.2 is significantly associated with the body mass index by using GWAS analysis in 2,518 african american women//86,278 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//55,137 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men(p-value = 8E-8 ;OR = 0.0214). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. NCRV0000001824 23934736 NONHSAT131128.2 rs3747547 C N/A 1,260 african american individuals EFO_0005275 N/A Associate Metabolite levels (dihydroxy docosatrienoic acid) rs3747547-C of NONHSAT131128.2 is significantly associated with the metabolite levels (dihydroxy docosatrienoic acid) by using GWAS analysis in 1,260 african american individuals(p-value = 5E-6 ;OR = 0.09). 0.4 Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study. NCRV0000000150 22885922 NONHSAT199696.1 rs4458523 G N/A 6,377 european ancestry male cases//5,794 european ancestry female cases//22,243 european ancestry male controls//34,619 european ancestry female controls; 12,938 european ancestry male cases//8,553 european ancestry female cases//904 pakistani ancestry male cases//274 pakistani ancestry female cases//30,273 european ancestry male controls//25,374 european ancestry female controls//2,088 pakistani ancestry male controls//384 pakistani ancestry female controls EFO_0001360 N/A Associate Type 2 diabetes rs4458523-G of NONHSAT199696.1 is significantly associated with the type 2 diabetes by using GWAS analysis in 6,377 european ancestry male cases//5,794 european ancestry female cases//22,243 european ancestry male controls//34,619 european ancestry female controls; 12,938 european ancestry male cases//8,553 european ancestry female cases//904 pakistani ancestry male cases//274 pakistani ancestry female cases//30,273 european ancestry male controls//25,374 european ancestry female controls//2,088 pakistani ancestry male controls//384 pakistani ancestry female controls(p-value = 2E-15 ;OR = 1.1). 0.4 Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. NCRV0000001396 25961943 NONHSAT215396.1 rs4841132 G N/A up to 62,166 european ancestry individuals EFO_0000319 N/A Associate Hdl cholesterol rs4841132-G of NONHSAT215396.1 is significantly associated with the hdl cholesterol by using GWAS analysis in up to 62,166 european ancestry individuals(p-value = 4E-20 ;OR = 0.094). 0.4 The impact of low-frequency and rare variants on lipid levels. NCRV0000001921 24528284 NONHSAT179883.1 rs8102150 ? N/A 300 european ancestry escitalpram treated individuals//130 european ancestry citalopram treated individuals EFO_0003761 serotonin reuptake inhibitors Associate Response to serotonin reuptake inhibitors in major depressive disorder (plasma drug and metabolite levels) rs8102150-? of NONHSAT179883.1 is significantly associated with the response to serotonin reuptake inhibitors in major depressive disorder (plasma drug and metabolite levels) by using GWAS analysis in 300 european ancestry escitalpram treated individuals//130 european ancestry citalopram treated individuals(p-value = 7E-7 ;OR = ?). 0.4 Citalopram and escitalopram plasma drug and metabolite concentrations: genome-wide associations. NCRV0000001779 25673413 NONHSAT180304.1 rs17513613 C N/A up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals EFO_0001073 N/A Associate Body mass index rs17513613-C of NONHSAT180304.1 is significantly associated with the body mass index by using GWAS analysis in up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals(p-value = 3E-6 ;OR = 0.015). 0.4 Genetic studies of body mass index yield new insights for obesity biology. NCRV0000003042 18264096 NONHSAT216396.1 rs6983267 G N/A 1,172 european ancestry cases//1,157 european ancestry controls; 3,941 european ancestry cases//3,964 european ancestry controls EFO_0001663 N/A Associate Prostate cancer rs6983267-G of NONHSAT216396.1 is significantly associated with the prostate cancer by using GWAS analysis in 1,172 european ancestry cases//1,157 european ancestry controls; 3,941 european ancestry cases//3,964 european ancestry controls(p-value = 7E-12 ;OR = 1.28). 0.4 Multiple loci identified in a genome-wide association study of prostate cancer. NCRV0000002229 20581827 NONHSAT017523.2 rs231362 G N/A 8,130 european ancestry cases//38,987 european ancestry controls; up to 34,412 european ancestry cases//59,925 european ancestry controls EFO_0001360 N/A Associate Type 2 diabetes rs231362-G of NONHSAT017523.2 is significantly associated with the type 2 diabetes by using GWAS analysis in 8,130 european ancestry cases//38,987 european ancestry controls; up to 34,412 european ancestry cases//59,925 european ancestry controls(p-value = 3E-13 ;OR = 1.08). 0.4 Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. NCRV0000002878 25918132 NONHSAT161708.1 rs188610 A N/A 74 european ancestry cases//824 european ancestry controls EFO_0000270 N/A Associate Diisocyanate-induced asthma rs188610-A of NONHSAT161708.1 is significantly associated with the diisocyanate-induced asthma by using GWAS analysis in 74 european ancestry cases//824 european ancestry controls(p-value = 1E-6 ;OR = 11.49). 0.4 Genome-Wide Association Study Identifies Novel Loci Associated With Diisocyanate-Induced Occupational Asthma. NCRV0000000776 26545630 NONHSAT207875.1 rs2502399 ? N/A 521 alzheimer's disease cases//297 controls EFO_0007656 N/A Associate Plasma clusterin levels rs2502399-? of NONHSAT207875.1 is significantly associated with the plasma clusterin levels by using GWAS analysis in 521 alzheimer's disease cases//297 controls(p-value = 5E-6 ;OR = ?). 0.4 A potential endophenotype for Alzheimer's disease: cerebrospinal fluid clusterin. NCRV0000001703 28928442 NONHSAT207118.1 rs34241101 ? N/A 52,487 european ancestry cases//22,017 european ancestry controls EFO_0008408 N/A Associate Strep throat rs34241101-? of NONHSAT207118.1 is significantly associated with the strep throat by using GWAS analysis in 52,487 european ancestry cases//22,017 european ancestry controls(p-value = 2E-7 ;OR = 0.0548). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. NCRV0000000378 17903301 NONHSAT198379.1 rs1379659 ? N/A up to 1,238 european ancestry individuals EFO_0000319 N/A Associate Echocardiographic traits rs1379659-? of NONHSAT198379.1 is significantly associated with the echocardiographic traits by using GWAS analysis in up to 1,238 european ancestry individuals(p-value = 1E-7 ;OR = ?). 0.4 Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study. NCRV0000000288 28334899 NONHSAT151260.1 rs1198430 T N/A 32,576 east asian ancestry individuals//187,365 european ancestry individuals; 10,855 chinese ancestry individuals EFO_0000319 N/A Associate Total cholesterol levels rs1198430-T of NONHSAT151260.1 is significantly associated with the total cholesterol levels by using GWAS analysis in 32,576 east asian ancestry individuals//187,365 european ancestry individuals; 10,855 chinese ancestry individuals(p-value = 1E-7 ;OR = 0.0269). 0.4 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels. NCRV0000003696 27863252 NONHSAT119065.2 rs6967414 A N/A 172,925 european ancestry individuals EFO_0004509 N/A Associate Hemoglobin concentration rs6967414-A of NONHSAT119065.2 is significantly associated with the hemoglobin concentration by using GWAS analysis in 172,925 european ancestry individuals(p-value = 4E-10 ;OR = 0.03590529). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003830 27863252 NONHSAT205084.1 rs56235845 G N/A 172,925 european ancestry individuals EFO_0004509 N/A Associate Hemoglobin concentration rs56235845-G of NONHSAT205084.1 is significantly associated with the hemoglobin concentration by using GWAS analysis in 172,925 european ancestry individuals(p-value = 1E-9 ;OR = 0.02294702). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003383 26634245 NONHSAT069698.2 rs181043431 T N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs181043431-T of NONHSAT069698.2 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 4E-6 ;OR = 0.439). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000003813 28644415 NONHSAT163774.1 rs142426031 ? N/A 141 individuals EFO_0008111 N/A Associate Prudent dietary pattern rs142426031-? of NONHSAT163774.1 is significantly associated with the prudent dietary pattern by using GWAS analysis in 141 individuals(p-value = 7E-6 ;OR = ?). 0.4 Genome-Wide Association Study of Dietary Pattern Scores.LID - E649 [pii]LID - 10.3390/nu9070649 [doi]AB - Dietary patterns, representing global food supplies rather than specific nutrients or food intakes, have been associated with cardiovascul NCRV0000001528 25751625 NONHSAT217627.1 rs11780156 T N/A 15,748 european ancestry cases//18,084 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls EFO_0000305 N/A Associate Breast cancer rs11780156-T of NONHSAT217627.1 is significantly associated with the breast cancer by using GWAS analysis in 15,748 european ancestry cases//18,084 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls(p-value = 2E-9 ;OR = 1.07). 0.4 Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer. NCRV0000002234 27989323 NONHSAT190332.1 rs182235288 G N/A 8,293 finnish ancestry individuals EFO_0008264 N/A Associate Platelet-derived growth factor bb levels rs182235288-G of NONHSAT190332.1 is significantly associated with the platelet-derived growth factor bb levels by using GWAS analysis in 8,293 finnish ancestry individuals(p-value = 8E-6 ;OR = 0.9021). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. NCRV0000001582 27182965 NONHSAT210492.1 rs227833 ? N/A 69,284 european ancestry individuals EFO_0007906 N/A Associate Monobrow rs227833-? of NONHSAT210492.1 is significantly associated with the monobrow by using GWAS analysis in 69,284 european ancestry individuals(p-value = 6E-16 ;OR = 0.033). 0.4 Detection and interpretation of shared genetic influences on 42 human traits. NCRV0000002833 21102463 NONHSAT216433.1 rs6651252 T N/A 6,333 european ancestry cases//15,056 european ancestry controls; 15,694 european ancestry cases//14,026 european ancestry controls//414 european ancestry trios EFO_0000384 N/A Associate Crohn's disease rs6651252-T of NONHSAT216433.1 is significantly associated with the crohn's disease by using GWAS analysis in 6,333 european ancestry cases//15,056 european ancestry controls; 15,694 european ancestry cases//14,026 european ancestry controls//414 european ancestry trios(p-value = 4E-18 ;OR = 1.23). 0.4 Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. NCRV0000002294 26634245 NONHSAT198812.1 rs2869967 T N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs2869967-T of NONHSAT198812.1 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 1E-10 ;OR = 0.057). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000002038 23251661 NONHSAT211587.1 rs314590 G N/A 815 hispanic children from 263 families EFO_0004620 N/A Associate Obesity-related traits rs314590-G of NONHSAT211587.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 4E-6 ;OR = 0.02). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. NCRV0000002961 19197348 NONHSAT214210.1 rs2527866 C N/A 2,906 kosraen individuals EFO_0006335 N/A Associate Quantitative traits rs2527866-C of NONHSAT214210.1 is significantly associated with the quantitative traits by using GWAS analysis in 2,906 kosraen individuals(p-value = 3E-6 ;OR = 0.27). 0.4 Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae. NCRV0000002983 27989323 NONHSAT130003.2 rs34881325 C N/A 7,118 finnish ancestry individuals EFO_0004762 N/A Associate Vascular endothelial growth factor levels rs34881325-C of NONHSAT130003.2 is significantly associated with the vascular endothelial growth factor levels by using GWAS analysis in 7,118 finnish ancestry individuals(p-value = 3E-10 ;OR = 0.118). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. NCRV0000003105 27863252 NONHSAT179864.1 rs2287922 A N/A 164,454 european ancestry individuals EFO_0004584 N/A Associate Mean platelet volume rs2287922-A of NONHSAT179864.1 is significantly associated with the mean platelet volume by using GWAS analysis in 164,454 european ancestry individuals(p-value = 1E-11 ;OR = 0.02448993). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003519 19525953 NONHSAT108547.2 rs2523393 A N/A 2,624 european ancestry cases//7,220 european ancestry controls; 2,215 european ancestry cases//2,116 european ancestry controls EFO_0003885 N/A Associate Multiple sclerosis rs2523393-A of NONHSAT108547.2 is significantly associated with the multiple sclerosis by using GWAS analysis in 2,624 european ancestry cases//7,220 european ancestry controls; 2,215 european ancestry cases//2,116 european ancestry controls(p-value = 1E-17 ;OR = 1.28). 0.4 Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci. NCRV0000001096 28540026 NONHSAT048434.2 rs4702 ? N/A schizophrenia cases and controls (see ripke//2014)cases//up to 1,190 controls EFO_0000692 N/A Associate Schizophrenia rs4702-? of NONHSAT048434.2 is significantly associated with the schizophrenia by using GWAS analysis in schizophrenia cases and controls (see ripke//2014)cases//up to 1,190 controls(p-value = 1E-10 ;OR = 1.0638298). 0.4 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. NCRV0000000254 27179730 NONHSAT179794.1 rs445925 A N/A 2,242 european ancestry individuals with clinical ideal cardiovascular health//9,466 european ancestry individuals without clinical ideal cardiovascular health; 522 european ancestry individuals EFO_0000319 N/A Associate Ideal cardiovascular health (clinical) rs445925-A of NONHSAT179794.1 is significantly associated with the ideal cardiovascular health (clinical) by using GWAS analysis in 2,242 european ancestry individuals with clinical ideal cardiovascular health//9,466 european ancestry individuals without clinical ideal cardiovascular health; 522 european ancestry individuals(p-value = 9E-10 ;OR = 1.72). 0.4 Genetic loci associated with ideal cardiovascular health: A meta-analysis of genome-wide association studies. NCRV0000002417 27770636 NONHSAT123657.2 rs192232892 T N/A 1,825 african american ancestry cases//3,784 african american ancestry controls; EFO_1001870 N/A Associate Late-onset alzheimer's disease rs192232892-T of NONHSAT123657.2 is significantly associated with the late-onset alzheimer's disease by using GWAS analysis in 1,825 african american ancestry cases//3,784 african american ancestry controls; (p-value = 3E-6 ;OR = 0.99). 0.4 Two novel loci, COBL and SLC10A2, for Alzheimer's disease in African Americans. NCRV0000002272 27863252 NONHSAT167488.1 rs6563842 T N/A 171,771 european ancestry individuals EFO_0009389 N/A Associate Sum eosinophil basophil counts rs6563842-T of NONHSAT167488.1 is significantly associated with the sum eosinophil basophil counts by using GWAS analysis in 171,771 european ancestry individuals(p-value = 3E-13 ;OR = 0.0286538). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001856 27863252 NONHSAT179793.1 rs429358 C N/A 166,066 european ancestry individuals EFO_0004309 N/A Associate Platelet count rs429358-C of NONHSAT179793.1 is significantly associated with the platelet count by using GWAS analysis in 166,066 european ancestry individuals(p-value = 3E-9 ;OR = 0.0301972). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001521 27863252 NONHSAT168300.1 rs8020739 T N/A 172,378 european ancestry individuals EFO_0007991 N/A Associate Eosinophil percentage of white cells rs8020739-T of NONHSAT168300.1 is significantly associated with the eosinophil percentage of white cells by using GWAS analysis in 172,378 european ancestry individuals(p-value = 3E-12 ;OR = 0.02611942). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000194 27863252 NONHSAT168300.1 rs8020739 T N/A 170,672 european ancestry individuals EFO_0007994 N/A Associate Neutrophil percentage of granulocytes rs8020739-T of NONHSAT168300.1 is significantly associated with the neutrophil percentage of granulocytes by using GWAS analysis in 170,672 european ancestry individuals(p-value = 3E-9 ;OR = 0.02223488). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002734 26192919 NONHSAT154192.1 rs10800309 ? N/A 12,882 european ancestry cases//21,770 european ancestry controls; 25,273 european ancestry cases//26,715 european ancestry controls//548 iranian ancestry cases//342 iranian ancestry control//1,423 indian ancestry cases//990 indian ancestry controls//2,824 east asian ancestry cases//3,719 east asian ancestry controls EFO_0003767 N/A Associate Inflammatory bowel disease rs10800309-? of NONHSAT154192.1 is significantly associated with the inflammatory bowel disease by using GWAS analysis in 12,882 european ancestry cases//21,770 european ancestry controls; 25,273 european ancestry cases//26,715 european ancestry controls//548 iranian ancestry cases//342 iranian ancestry control//1,423 indian ancestry cases//990 indian ancestry controls//2,824 east asian ancestry cases//3,719 east asian ancestry controls(p-value = 6E-37 ;OR = ?). 0.4 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. NCRV0000000791 27863252 NONHSAT168300.1 rs8020739 T N/A 170,536 european ancestry individuals EFO_0007996 N/A Associate Eosinophil percentage of granulocytes rs8020739-T of NONHSAT168300.1 is significantly associated with the eosinophil percentage of granulocytes by using GWAS analysis in 170,536 european ancestry individuals(p-value = 1E-10 ;OR = 0.02412099). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000971 25961943 NONHSAT001724.2 rs586178 C N/A up to 62,166 european ancestry individuals EFO_0000319 N/A Associate Cholesterol//total rs586178-C of NONHSAT001724.2 is significantly associated with the cholesterol//total by using GWAS analysis in up to 62,166 european ancestry individuals(p-value = 3E-9 ;OR = 0.037). 0.4 The impact of low-frequency and rare variants on lipid levels. NCRV0000003414 28540026 NONHSAT118775.2 rs140364877 ? N/A up to 6,197 european ancestry asd cases//up to 7,377 european ancestry controls//up to 1,190 asd cases//up to 1,190 controls EFO_0003756 N/A Associate Autism spectrum disorder rs140364877-? of NONHSAT118775.2 is significantly associated with the autism spectrum disorder by using GWAS analysis in up to 6,197 european ancestry asd cases//up to 7,377 european ancestry controls//up to 1,190 asd cases//up to 1,190 controls(p-value = 2E-11 ;OR = 1.0869565). 0.4 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. NCRV0000001362 21738478 NONHSAT208069.1 rs9373124 T N/A 8,794 japanese ancestry individuals; 5,998 japanese ancestry individuals EFO_0004842 N/A Associate White blood cell types rs9373124-T of NONHSAT208069.1 is significantly associated with the white blood cell types by using GWAS analysis in 8,794 japanese ancestry individuals; 5,998 japanese ancestry individuals(p-value = 1E-10 ;OR = 0.08). 0.4 Identification of nine novel loci associated with white blood cell subtypes in a Japanese population. NCRV0000003251 26192919 NONHSAT206588.1 rs7773324 G N/A 5,956 european ancestry cases//14,927 european ancestry controls; 14,594 european ancestry cases//26,715 european ancestry controls//151 iranian ancestry cases//342 iranian ancestry controls//184 indian ancestry cases//990 indian ancestry controls//1,690 east asian ancestry cases//3,719 east asian ancestry controls EFO_0000384 N/A Associate Crohn's disease rs7773324-G of NONHSAT206588.1 is significantly associated with the crohn's disease by using GWAS analysis in 5,956 european ancestry cases//14,927 european ancestry controls; 14,594 european ancestry cases//26,715 european ancestry controls//151 iranian ancestry cases//342 iranian ancestry controls//184 indian ancestry cases//990 indian ancestry controls//1,690 east asian ancestry cases//3,719 east asian ancestry controls(p-value = 1E-9 ;OR = 1.0819273). 0.4 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. NCRV0000000804 28739976 NONHSAT189066.1 rs6015450 G N/A 150,134 european ancestry individuals; 87,359 european ancestry individuals//140,886 european and unknown ancestry individuals EFO_0006336 N/A Associate Diastolic blood pressure rs6015450-G of NONHSAT189066.1 is significantly associated with the diastolic blood pressure by using GWAS analysis in 150,134 european ancestry individuals; 87,359 european ancestry individuals//140,886 european and unknown ancestry individuals(p-value = 2E-15 ;OR = 0.536). 0.4 Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.LID - HYPERTENSIONAHA.117.09438 [pii]LID - 10.1161/HYPERTENSIONAHA.117.09438 [doi]AB - Elevated blood pressure NCRV0000001481 19247474 NONHSAT029847.2 rs1847461 ? N/A 2,617 european ancestry smokers//1,725 european ancestry controls EFO_0004318 N/A Associate Smoking behavior rs1847461-? of NONHSAT029847.2 is significantly associated with the smoking behavior by using GWAS analysis in 2,617 european ancestry smokers//1,725 european ancestry controls(p-value = 8E-6 ;OR = 1.8). 0.4 Genome-wide and candidate gene association study of cigarette smoking behaviors. NCRV0000001742 21980299 NONHSAT069825.2 rs6547853 ? N/A 9,934 european ancestry cases//16,956 european ancestry controls; 1,120 european ancestry affected trios EFO_0001359 N/A Associate Type 1 diabetes rs6547853-? of NONHSAT069825.2 is significantly associated with the type 1 diabetes by using GWAS analysis in 9,934 european ancestry cases//16,956 european ancestry controls; 1,120 european ancestry affected trios(p-value = 8E-7 ;OR = 1.19). 0.4 A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci. NCRV0000000313 23382691 NONHSAT189188.1 rs6084946 C N/A 2,247 european ancestry individuals EFO_0002690 N/A Associate Igg glycosylation rs6084946-C of NONHSAT189188.1 is significantly associated with the igg glycosylation by using GWAS analysis in 2,247 european ancestry individuals(p-value = 5E-6 ;OR = 0.2176). 0.4 Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. NCRV0000002631 20585627 NONHSAT221385.1 rs7866070 ? N/A 9,126 european ancestry individuals HP_0000483 N/A Associate Common traits (other) rs7866070-? of NONHSAT221385.1 is significantly associated with the common traits (other) by using GWAS analysis in 9,126 european ancestry individuals(p-value = 7E-7 ;OR = ?). 0.4 Web-based, participant-driven studies yield novel genetic associations for common traits. NCRV0000003762 27863252 NONHSAT192221.1 rs5762813 T N/A 173,039 european ancestry individuals EFO_0004348 N/A Associate Hematocrit rs5762813-T of NONHSAT192221.1 is significantly associated with the hematocrit by using GWAS analysis in 173,039 european ancestry individuals(p-value = 1E-9 ;OR = 0.02777911). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001507 23128233 NONHSAT067101.2 rs516246 T N/A up to 12,924 european ancestry cases//up to 21,442 european ancestry controls; up to 25,683 european ancestry cases//up to 17,015 european ancestry controls EFO_0000384 N/A Associate Crohn's disease rs516246-T of NONHSAT067101.2 is significantly associated with the crohn's disease by using GWAS analysis in up to 12,924 european ancestry cases//up to 21,442 european ancestry controls; up to 25,683 european ancestry cases//up to 17,015 european ancestry controls(p-value = 1E-15 ;OR = 1.107). 0.4 Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. NCRV0000000839 24124411 NONHSAT157378.1 rs76850691 C N/A 484 korean ancestry children EFO_0001421 N/A Associate Liver enzyme levels (aspartate transaminase) rs76850691-C of NONHSAT157378.1 is significantly associated with the liver enzyme levels (aspartate transaminase) by using GWAS analysis in 484 korean ancestry children(p-value = 9E-7 ;OR = 0.099). 0.4 Genome-wide association study of liver enzymes in korean children. NCRV0000003802 26561523 NONHSAT185210.1 rs1558643 T N/A 120,246 european ancestry individuals EFO_0004623 N/A Associate Fibrinogen levels rs1558643-T of NONHSAT185210.1 is significantly associated with the fibrinogen levels by using GWAS analysis in 120,246 european ancestry individuals(p-value = 3E-10 ;OR = 0.0058). 0.4 A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration. NCRV0000000304 21908519 NONHSAT031256.2 rs7953249 G N/A up to 1,426 european ancestry male individuals//up to 1,941 european ancestry female individuals EFO_0004999 N/A Associate N-glycan levels rs7953249-G of NONHSAT031256.2 is significantly associated with the n-glycan levels by using GWAS analysis in up to 1,426 european ancestry male individuals//up to 1,941 european ancestry female individuals(p-value = 3E-11 ;OR = 0.17475872). 0.4 Polymorphisms in B3GAT1, SLC9A9 and MGAT5 are associated with variation within the human plasma N-glycome of 3533 European adults. NCRV0000001995 26634245 NONHSAT198893.1 rs73838643 T N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs73838643-T of NONHSAT198893.1 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 3E-6 ;OR = 0.073). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000002553 21116278 NONHSAT164488.1 rs10743430 ? N/A 424 european ancestry mild cognitive impairment cases//236 european ancestry alzheimer's disease cases//279 european ancestry controls EFO_0004840 N/A Associate Entorhinal cortical thickness rs10743430-? of NONHSAT164488.1 is significantly associated with the entorhinal cortical thickness by using GWAS analysis in 424 european ancestry mild cognitive impairment cases//236 european ancestry alzheimer's disease cases//279 european ancestry controls(p-value = 6E-7 ;OR = 0.218). 0.4 Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease. NCRV0000000663 27863252 NONHSAT081839.2 rs35542019 T N/A 172,925 european ancestry individuals EFO_0004509 N/A Associate Hemoglobin concentration rs35542019-T of NONHSAT081839.2 is significantly associated with the hemoglobin concentration by using GWAS analysis in 172,925 european ancestry individuals(p-value = 7E-14 ;OR = 0.02693789). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002775 28928442 NONHSAT155677.1 rs10762653 ? N/A 40,600 european ancestry cases//90,039 european ancestry controls EFO_0008410 N/A Associate Pneumonia rs10762653-? of NONHSAT155677.1 is significantly associated with the pneumonia by using GWAS analysis in 40,600 european ancestry cases//90,039 european ancestry controls(p-value = 1E-6 ;OR = 0.0639). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. NCRV0000001272 23381795 NONHSAT206828.1 rs5370 T N/A 3,444 european ancestry individuals; 3,230 european ancestry individuals EFO_0005196 N/A Associate Circulating vasoactive peptide levels rs5370-T of NONHSAT206828.1 is significantly associated with the circulating vasoactive peptide levels by using GWAS analysis in 3,444 european ancestry individuals; 3,230 european ancestry individuals(p-value = 1E-27 ;OR = 2.955). 0.4 Genome-wide association study on plasma levels of midregional-proadrenomedullin and C-terminal-pro-endothelin-1. NCRV0000002793 29228715 NONHSAT173314.1 rs1124356 ? N/A 855 austrian ancestry colonoscopy-negative controls//3,439 european ancestry controls NCIT_C16450 N/A Associate Colonoscopy-negative controls vs population controls rs1124356-? of NONHSAT173314.1 is significantly associated with the colonoscopy-negative controls vs population controls by using GWAS analysis in 855 austrian ancestry colonoscopy-negative controls//3,439 european ancestry controls(p-value = 4E-6 ;OR = 1.354). 0.4 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas. NCRV0000003698 25574825 NONHSAT067101.2 rs1047781 C N/A 4,212 european ancestry cases//8,032 european ancestry controls EFO_0000676 N/A Associate Psoriasis rs1047781-C of NONHSAT067101.2 is significantly associated with the psoriasis by using GWAS analysis in 4,212 european ancestry cases//8,032 european ancestry controls(p-value = 4E-8 ;OR = 1.183432). 0.4 Genome-wide comparative analysis of atopic dermatitis and psoriasis gives insight into opposing genetic mechanisms. NCRV0000001583 28448500 NONHSAT027401.2 rs1872992 G N/A 2,518 african american women//83,707 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//52,993 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men EFO_0007788 N/A Associate Waist-to-hip ratio adjusted for body mass index rs1872992-G of NONHSAT027401.2 is significantly associated with the waist-to-hip ratio adjusted for body mass index by using GWAS analysis in 2,518 african american women//83,707 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//52,993 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men(p-value = 3E-17 ;OR = 0.0489). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. NCRV0000002122 28892062 NONHSAT168677.1 rs7141420 T N/A up to 72,390 japanese ancestry women//up to 85,894 japanese ancestry men; up to 10,048 japanese ancestry women//up to 5,098 japanese ancestry men//up to 181,999 european ancestry women//up to 140,155 european ancestry controls EFO_0001073 N/A Associate Body mass index rs7141420-T of NONHSAT168677.1 is significantly associated with the body mass index by using GWAS analysis in up to 72,390 japanese ancestry women//up to 85,894 japanese ancestry men; up to 10,048 japanese ancestry women//up to 5,098 japanese ancestry men//up to 181,999 european ancestry women//up to 140,155 european ancestry controls(p-value = 7E-15 ;OR = 0.019). 0.4 Genome-wide association study identifies 112 new loci for body mass index in the Japanese population. NCRV0000000757 19043545 NONHSAT197564.1 rs1382269 ? N/A 284 european ancestry male individuals EFO_0004622 N/A Associate Metabolite levels rs1382269-? of NONHSAT197564.1 is significantly associated with the metabolite levels by using GWAS analysis in 284 european ancestry male individuals(p-value = 5E-7 ;OR = ?). 0.4 Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum. NCRV0000000671 22491018 NONHSAT151084.1 rs11121380 ? N/A 1,157 european and other ancestry rheumatoid arthritis cases; 526 european and other ancestry rheumatoid arthritis cases EFO_0000685 tocilizumab Associate Response to tocilizumab in rheumatoid arthritis rs11121380-? of NONHSAT151084.1 is significantly associated with the response to tocilizumab in rheumatoid arthritis by using GWAS analysis in 1,157 european and other ancestry rheumatoid arthritis cases; 526 european and other ancestry rheumatoid arthritis cases(p-value = 5E-8 ;OR = 11.11). 0.4 Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis. NCRV0000001777 27863252 NONHSAT211335.1 rs2451279 G N/A 169,219 european ancestry individuals EFO_0007988 N/A Associate Myeloid white cell count rs2451279-G of NONHSAT211335.1 is significantly associated with the myeloid white cell count by using GWAS analysis in 169,219 european ancestry individuals(p-value = 8E-12 ;OR = 0.02576397). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003102 26198764 NONHSAT141673.2 rs12691307 A N/A 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls EFO_0000692 N/A Associate Schizophrenia rs12691307-A of NONHSAT141673.2 is significantly associated with the schizophrenia by using GWAS analysis in 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls(p-value = 2E-10 ;OR = 1.07). 0.4 Genome-wide association study of schizophrenia in Ashkenazi Jews. NCRV0000001549 27623284 NONHSAT130429.2 rs7866783 ? N/A 14 black cases//922 european ancestry cases//25 cases//82 black controls//3,918 european ancestry controls//129 controls EFO_0004190 N/A Associate Glaucoma (primary open-angle) rs7866783-? of NONHSAT130429.2 is significantly associated with the glaucoma (primary open-angle) by using GWAS analysis in 14 black cases//922 european ancestry cases//25 cases//82 black controls//3,918 european ancestry controls//129 controls(p-value = 4E-8 ;OR = 1.34). 0.4 Epistatic Gene-Based Interaction Analyses for Glaucoma in eMERGE and NEIGHBOR Consortium. NCRV0000002368 26252872 NONHSAT184170.1 rs62106697 G N/A 472 european ancestry cases//47 cases HP_0100543 N/A Associate Cognitive decline rate in late mild cognitive impairment rs62106697-G of NONHSAT184170.1 is significantly associated with the cognitive decline rate in late mild cognitive impairment by using GWAS analysis in 472 european ancestry cases//47 cases(p-value = 1E-7 ;OR = 0.7245). 0.4 Variations in the FRA10AC1 Fragile Site and 15q21 Are Associated with Cerebrospinal Fluid Abeta1-42 Level. NCRV0000001530 28530673 NONHSAT167990.1 rs2251499 T N/A up to 58,799 european ancestry adults//up to 19,509 european ancestry children EFO_0004337 N/A Associate Intelligence rs2251499-T of NONHSAT167990.1 is significantly associated with the intelligence by using GWAS analysis in up to 58,799 european ancestry adults//up to 19,509 european ancestry children(p-value = 3E-10 ;OR = 6.313). 0.4 Genome-wide association meta-analysis of 78,308 individuals identifies new loci and genes influencing human intelligence. NCRV0000001390 26198764 NONHSAT131044.2 rs7020830 T N/A 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls EFO_0000692 N/A Associate Schizophrenia rs7020830-T of NONHSAT131044.2 is significantly associated with the schizophrenia by using GWAS analysis in 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls(p-value = 8E-6 ;OR = 1.0526316). 0.4 Genome-wide association study of schizophrenia in Ashkenazi Jews. NCRV0000003580 26634245 NONHSAT169868.1 rs116590076 C N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs116590076-C of NONHSAT169868.1 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 3E-6 ;OR = 0.285). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000000116 29064472 NONHSAT100807.2 rs11951177 A N/A 114 african ancestry schizophrenia cases//69 african schizo-affective cases//41 african ancestry bipolar disorder cases//76 african ancestry controls//116 european ancestry schizophrenia cases//86 european ancestry schizo-affective cases//165 european ancestry bipolar disorder cases//182 european ancestry controls EFO_0008434 N/A Associate Initial pursuit acceleration rs11951177-A of NONHSAT100807.2 is significantly associated with the initial pursuit acceleration by using GWAS analysis in 114 african ancestry schizophrenia cases//69 african schizo-affective cases//41 african ancestry bipolar disorder cases//76 african ancestry controls//116 european ancestry schizophrenia cases//86 european ancestry schizo-affective cases//165 european ancestry bipolar disorder cases//182 european ancestry controls(p-value = 4E-6 ;OR = ?). 0.4 Genome-wide association studies of smooth pursuit and antisaccade eye movements in psychotic disorders: findings from the B-SNIP study. NCRV0000000870 24529757 NONHSAT168956.1 rs10145110 ? N/A 250 han chinese ancestry cases//250 han chinese ancestry controls EFO_0001357 N/A Associate Amyotrophic lateral sclerosis (sporadic) rs10145110-? of NONHSAT168956.1 is significantly associated with the amyotrophic lateral sclerosis (sporadic) by using GWAS analysis in 250 han chinese ancestry cases//250 han chinese ancestry controls(p-value = 1E-7 ;OR = ?). 0.4 Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations. NCRV0000003515 26634245 NONHSAT064137.2 rs11878732 A N/A 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases EFO_0003892 N/A Associate Post bronchodilator fev1 in copd rs11878732-A of NONHSAT064137.2 is significantly associated with the post bronchodilator fev1 in copd by using GWAS analysis in 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases(p-value = 2E-7 ;OR = 0.136). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000001503 28739976 NONHSAT163355.1 rs1015291 G N/A 150,134 european ancestry individuals; 87,359 european ancestry individuals//140,886 european and unknown ancestry individuals EFO_0006336 N/A Associate Diastolic blood pressure rs1015291-G of NONHSAT163355.1 is significantly associated with the diastolic blood pressure by using GWAS analysis in 150,134 european ancestry individuals; 87,359 european ancestry individuals//140,886 european and unknown ancestry individuals(p-value = 1E-7 ;OR = 0.243). 0.4 Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.LID - HYPERTENSIONAHA.117.09438 [pii]LID - 10.1161/HYPERTENSIONAHA.117.09438 [doi]AB - Elevated blood pressure NCRV0000002004 26776603 NONHSAT016481.2 rs1679568 A N/A 31 japanese ancestry mild cases//282 japanese ancestry moderate cases//131 japanese ancestry severe cases EFO_0000685 N/A Associate Response to anti-tnf therapy in rheumatoid arthritis rs1679568-A of NONHSAT016481.2 is significantly associated with the response to anti-tnf therapy in rheumatoid arthritis by using GWAS analysis in 31 japanese ancestry mild cases//282 japanese ancestry moderate cases//131 japanese ancestry severe cases(p-value = 5E-6 ;OR = 0.44). 0.4 A longitudinal genome-wide association study of anti-tumor necrosis factor response among Japanese patients with rheumatoid arthritis. NCRV0000001567 26034056 NONHSAT053287.2 rs11263763 A N/A 6,406 european ancestry cases//601 african american cases//288 east asian ancestry cases//488 latino cases30,866 european ancestry controls//1,650 african american controls//2,938 east asian ancestry controls//3,141 latino controls; 4,599 european ancestry cases//2,265 african american cases//2,940 european ancestry controls//2,414 african american controls EFO_0001663 N/A Associate Prostate cancer rs11263763-A of NONHSAT053287.2 is significantly associated with the prostate cancer by using GWAS analysis in 6,406 european ancestry cases//601 african american cases//288 east asian ancestry cases//488 latino cases30,866 european ancestry controls//1,650 african american controls//2,938 east asian ancestry controls//3,141 latino controls; 4,599 european ancestry cases//2,265 african american cases//2,940 european ancestry controls//2,414 african american controls(p-value = 5E-24 ;OR = 1.22). 0.4 A large multiethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences. NCRV0000002743 29059683 NONHSAT063070.2 rs2304098 C N/A 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls EFO_0000305 N/A Associate Breast cancer rs2304098-C of NONHSAT063070.2 is significantly associated with the breast cancer by using GWAS analysis in 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls(p-value = 2E-11 ;OR = 0.0434). 0.4 Association analysis identifies 65 new breast cancer risk loci. NCRV0000003965 27863252 NONHSAT208699.1 rs1285886 A N/A 171,643 european ancestry individuals EFO_0004587 N/A Associate Lymphocyte counts rs1285886-A of NONHSAT208699.1 is significantly associated with the lymphocyte counts by using GWAS analysis in 171,643 european ancestry individuals(p-value = 3E-10 ;OR = 0.02893744). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001802 27918534 NONHSAT006322.2 rs6587515 ? N/A 3,684 european ancestry women//3,640 european ancestry men//1,284 african american women//877 african american men//746 hispanic ancestry women//699 hispanic ancestry men//390 asian ancestry women//378 asian ancestry men// 294 old order amish (founder/genetic isolate) women//248 old order amish (founder/genetic isolate) men. EFO_0000589 N/A Associate Pericardial adipose tissue adjusted for height and weight rs6587515-? of NONHSAT006322.2 is significantly associated with the pericardial adipose tissue adjusted for height and weight by using GWAS analysis in 3,684 european ancestry women//3,640 european ancestry men//1,284 african american women//877 african american men//746 hispanic ancestry women//699 hispanic ancestry men//390 asian ancestry women//378 asian ancestry men// 294 old order amish (founder/genetic isolate) women//248 old order amish (founder/genetic isolate) men.(p-value = 4E-6 ;OR = ?). 0.4 Multiethnic genome-wide meta-analysis of ectopic fat depots identifies loci associated with adipocyte development and differentiation. NCRV0000003918 27082954 NONHSAT096090.2 rs3755899 G N/A 104 european ancestry cases//1,519 european ancestry controls//34 african american cases//520 african american controls EFO_0004265 traffic-related air pollution interaction Associate Peripheral arterial disease (traffic-related air pollution interaction) rs3755899-G of NONHSAT096090.2 is significantly associated with the peripheral arterial disease (traffic-related air pollution interaction) by using GWAS analysis in 104 european ancestry cases//1,519 european ancestry controls//34 african american cases//520 african american controls(p-value = 2E-8 ;OR = 1789.83). 0.4 Genetic Variants in the Bone Morphogenic Protein Gene Family Modify the Association between Residential Exposure to Traffic and Peripheral Arterial Disease. NCRV0000001370 25865494 NONHSAT059153.2 rs16958440 G N/A 3,545 african americans individuals//12,965 european ancestry women//8,625 european ancestry men EFO_0007118 N/A Associate Sitting height ratio rs16958440-G of NONHSAT059153.2 is significantly associated with the sitting height ratio by using GWAS analysis in 3,545 african americans individuals//12,965 european ancestry women//8,625 european ancestry men(p-value = 4E-6 ;OR = 0.085). 0.4 Genome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal Development. NCRV0000001304 27863252 NONHSAT211179.1 rs9376098 A N/A 171,996 european ancestry individuals EFO_0007992 N/A Associate Basophil percentage of white cells rs9376098-A of NONHSAT211179.1 is significantly associated with the basophil percentage of white cells by using GWAS analysis in 171,996 european ancestry individuals(p-value = 1E-12 ;OR = 0.02586259). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001558 27863252 NONHSAT211179.1 rs9376098 A N/A 170,223 european ancestry individuals EFO_0007995 N/A Associate Basophil percentage of granulocytes rs9376098-A of NONHSAT211179.1 is significantly associated with the basophil percentage of granulocytes by using GWAS analysis in 170,223 european ancestry individuals(p-value = 3E-12 ;OR = 0.0255682). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003009 27989323 NONHSAT183837.1 rs188654279 G N/A 3,409 finnish ancestry individuals EFO_0005140 N/A Associate Interleukin-7 levels rs188654279-G of NONHSAT183837.1 is significantly associated with the interleukin-7 levels by using GWAS analysis in 3,409 finnish ancestry individuals(p-value = 6E-6 ;OR = 0.7669). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. NCRV0000003376 27989323 NONHSAT164682.1 rs17647312 C N/A 3,557 finnish ancestry individuals EFO_0005140 N/A Associate Interleukin-13 levels rs17647312-C of NONHSAT164682.1 is significantly associated with the interleukin-13 levels by using GWAS analysis in 3,557 finnish ancestry individuals(p-value = 8E-6 ;OR = 0.4546). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. NCRV0000002214 27863252 NONHSAT191958.1 rs34891900 T N/A 170,384 european ancestry individuals EFO_0009390 N/A Associate Sum neutrophil eosinophil counts rs34891900-T of NONHSAT191958.1 is significantly associated with the sum neutrophil eosinophil counts by using GWAS analysis in 170,384 european ancestry individuals(p-value = 3E-9 ;OR = 0.02130261). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000860 26129866 NONHSAT152363.1 rs4072037 A N/A 2,350 east asian ancestry cases//2,708 east asian ancestry controls; 7,408 east asian ancestry cases//7,548 east asian ancestry controls EFO_0000178 N/A Associate Gastric cancer rs4072037-A of NONHSAT152363.1 is significantly associated with the gastric cancer by using GWAS analysis in 2,350 east asian ancestry cases//2,708 east asian ancestry controls; 7,408 east asian ancestry cases//7,548 east asian ancestry controls(p-value = 7E-8 ;OR = 1.32). 0.4 Genome-wide association study of gastric adenocarcinoma in Asia: a comparison of associations between cardia and non-cardia tumours. NCRV0000001747 25086665 NONHSAT165888.1 rs9543325 ? N/A 1,582 european ancestry cases//5,203 european ancestry controls; 6,101 european ancestry cases//9,194 european ancestry controls EFO_0002618 N/A Associate Pancreatic cancer rs9543325-? of NONHSAT165888.1 is significantly associated with the pancreatic cancer by using GWAS analysis in 1,582 european ancestry cases//5,203 european ancestry controls; 6,101 european ancestry cases//9,194 european ancestry controls(p-value = 4E-14 ;OR = 1.23). 0.4 Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer. NCRV0000002744 20676098 NONHSAT217969.1 rs1512268 ? N/A 1,583 japanese ancestry cases//3,386 japanese ancestry controls; 3,001 japanese ancestry cases//5,415 japanese ancestry controls EFO_0001663 N/A Associate Prostate cancer rs1512268-? of NONHSAT217969.1 is significantly associated with the prostate cancer by using GWAS analysis in 1,583 japanese ancestry cases//3,386 japanese ancestry controls; 3,001 japanese ancestry cases//5,415 japanese ancestry controls(p-value = 4E-11 ;OR = ?). 0.4 Genome-wide association study identifies five new susceptibility loci for prostate cancer in the Japanese population. NCRV0000002397 28598434 NONHSAT074176.2 rs4662750 ? N/A 10,784 european ancestry cases//20,406 european ancestry controls; 3,182 european ancestry cases//6,301 european ancestry controls EFO_0000681 N/A Associate Renal cell carcinoma rs4662750-? of NONHSAT074176.2 is significantly associated with the renal cell carcinoma by using GWAS analysis in 10,784 european ancestry cases//20,406 european ancestry controls; 3,182 european ancestry cases//6,301 european ancestry controls(p-value = 2E-7 ;OR = 1.0893246). 0.4 Genome-wide association study identifies multiple risk loci for renal cell carcinoma. NCRV0000002118 29221444 NONHSAT168072.1 rs9555620 ? N/A 345 african american cases//346 african american controls; 137 african american cases//68 african american controls EFO_0004723 N/A Associate Coronary artery calcified atherosclerotic plaque (90 or 130 hu threshold) in type 2 diabetes rs9555620-? of NONHSAT168072.1 is significantly associated with the coronary artery calcified atherosclerotic plaque (90 or 130 hu threshold) in type 2 diabetes by using GWAS analysis in 345 african american cases//346 african american controls; 137 african american cases//68 african american controls(p-value = 8E-6 ;OR = 0.31). 0.4 Genome-wide association study of coronary artery calcified atherosclerotic plaque in African Americans with type 2 diabetes. NCRV0000001345 28240269 NONHSAT176910.1 rs16971895 A N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008052 N/A Associate Blood protein levels rs16971895-A of NONHSAT176910.1 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 1E-12 ;OR = 0.7756). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. NCRV0000002514 27989323 NONHSAT131072.2 rs76582507 G N/A 8,243 finnish ancestry individuals EFO_0005140 N/A Associate Macrophage inflammatory protein 1b levels rs76582507-G of NONHSAT131072.2 is significantly associated with the macrophage inflammatory protein 1b levels by using GWAS analysis in 8,243 finnish ancestry individuals(p-value = 3E-6 ;OR = 0.3175). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. NCRV0000003429 26956414 NONHSAT217438.1 rs2511714 G N/A 3,100 european ancestry cases//7,667 european ancestry controls; 1,958 cases// 5,530 controls EFO_0000095 N/A Associate Chronic lymphocytic leukemia rs2511714-G of NONHSAT217438.1 is significantly associated with the chronic lymphocytic leukemia by using GWAS analysis in 3,100 european ancestry cases//7,667 european ancestry controls; 1,958 cases// 5,530 controls(p-value = 2E-7 ;OR = 1.19). 0.4 Meta-analysis of genome-wide association studies discovers multiple loci for chronic lymphocytic leukemia. NCRV0000001687 21102463 NONHSAT077462.2 rs3792109 A N/A 6,333 european ancestry cases//15,056 european ancestry controls; 15,694 european ancestry cases//14,026 european ancestry controls//414 european ancestry trios EFO_0000384 N/A Associate Crohn's disease rs3792109-A of NONHSAT077462.2 is significantly associated with the crohn's disease by using GWAS analysis in 6,333 european ancestry cases//15,056 european ancestry controls; 15,694 european ancestry cases//14,026 european ancestry controls//414 european ancestry trios(p-value = 7E-41 ;OR = 1.34). 0.4 Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. NCRV0000000842 27863252 NONHSAT221416.1 rs10901252 C N/A 172,925 european ancestry individuals EFO_0004509 N/A Associate Hemoglobin concentration rs10901252-C of NONHSAT221416.1 is significantly associated with the hemoglobin concentration by using GWAS analysis in 172,925 european ancestry individuals(p-value = 2E-25 ;OR = 0.07602222). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000036 27863252 NONHSAT179793.1 rs429358 C N/A 171,529 european ancestry individuals EFO_0005192 N/A Associate Red cell distribution width rs429358-C of NONHSAT179793.1 is significantly associated with the red cell distribution width by using GWAS analysis in 171,529 european ancestry individuals(p-value = 8E-26 ;OR = 0.05202347). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003924 27863252 NONHSAT010798.2 rs1339847 A N/A 164,454 european ancestry individuals EFO_0004584 N/A Associate Mean platelet volume rs1339847-A of NONHSAT010798.2 is significantly associated with the mean platelet volume by using GWAS analysis in 164,454 european ancestry individuals(p-value = 4E-48 ;OR = 0.08377635). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001587 28540026 NONHSAT208980.1 rs1131275 C N/A schizophrenia cases and controls (see ripke//2014)cases//up to 1,190 controls EFO_0000692 N/A Associate Schizophrenia rs1131275-C of NONHSAT208980.1 is significantly associated with the schizophrenia by using GWAS analysis in schizophrenia cases and controls (see ripke//2014)cases//up to 1,190 controls(p-value = 2E-9 ;OR = 1.07). 0.4 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. NCRV0000003828 22881374 NONHSAT190063.1 rs6085820 A N/A 109 amish cases//689 amish controls EFO_0000249 N/A Associate Alzheimer's disease (late onset) rs6085820-A of NONHSAT190063.1 is significantly associated with the alzheimer's disease (late onset) by using GWAS analysis in 109 amish cases//689 amish controls(p-value = 9E-6 ;OR = ?). 0.4 Genome-wide association and linkage study in the Amish detects a novel candidate late-onset Alzheimer disease gene. NCRV0000003445 27629089 NONHSAT077717.2 rs473651 A N/A 918 european ancestry cases//3,864 european ancestry controls EFO_1001050 N/A Associate Multiple system atrophy rs473651-A of NONHSAT077717.2 is significantly associated with the multiple system atrophy by using GWAS analysis in 918 european ancestry cases//3,864 european ancestry controls(p-value = 4E-6 ;OR = 1.2820514). 0.4 A genome-wide association study in multiple system atrophy. NCRV0000002339 25673412 NONHSAT170927.1 rs1440372 T N/A up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women EFO_0004343 N/A Associate Waist-hip ratio rs1440372-T of NONHSAT170927.1 is significantly associated with the waist-hip ratio by using GWAS analysis in up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women(p-value = 8E-9 ;OR = 0.0213). 0.4 New genetic loci link adipose and insulin biology to body fat distribution. NCRV0000002587 26297903 NONHSAT114476.2 rs6568686 ? N/A 723 european ancestry cases EFO_0000289 N/A Associate Depressive and manic episodes in bipolar disorder rs6568686-? of NONHSAT114476.2 is significantly associated with the depressive and manic episodes in bipolar disorder by using GWAS analysis in 723 european ancestry cases(p-value = 4E-8 ;OR = 0.11). 0.4 Genetics of long-term treatment outcome in bipolar disorder. NCRV0000003923 28240269 NONHSAT162404.1 rs1800973 A N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008216 N/A Associate Blood protein levels rs1800973-A of NONHSAT162404.1 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 2E-29 ;OR = 0.9525). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. NCRV0000001904 23563607 NONHSAT171774.1 rs4337252 C N/A 8,097 european ancestry tall individuals//8,099 european ancestry short individuals; 4,872 european ancestry tall individuals//4,831 european ancestry short individuals EFO_0004339 N/A Associate Height rs4337252-C of NONHSAT171774.1 is significantly associated with the height by using GWAS analysis in 8,097 european ancestry tall individuals//8,099 european ancestry short individuals; 4,872 european ancestry tall individuals//4,831 european ancestry short individuals(p-value = 7E-9 ;OR = 1.14). 0.4 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. NCRV0000001363 21399635 NONHSAT196511.1 rs485499 T N/A 1,840 european ancestry cases//5,163 european ancestry controls and (liu et al); 620 european ancestry cases//2,514 european ancestry controls EFO_0004267 N/A Associate Primary biliary cholangitis rs485499-T of NONHSAT196511.1 is significantly associated with the primary biliary cholangitis by using GWAS analysis in 1,840 european ancestry cases//5,163 european ancestry controls and (liu et al); 620 european ancestry cases//2,514 european ancestry controls(p-value = 2E-16 ;OR = 1.38). 0.4 Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis. NCRV0000002389 18839057 NONHSAT089138.2 rs864643 ? N/A 343 european ancestry cases//250 european ancestry controls//54 controls EFO_0003888 N/A Associate Attention deficit hyperactivity disorder rs864643-? of NONHSAT089138.2 is significantly associated with the attention deficit hyperactivity disorder by using GWAS analysis in 343 european ancestry cases//250 european ancestry controls//54 controls(p-value = 1E-8 ;OR = ?). 0.4 Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies. NCRV0000003564 25147783 NONHSAT067101.2 rs492602 C N/A 1,725 european ancestry cases//258 african ancestry cases//117 cases EFO_0004620 N/A Associate Vitamin b levels in ischemic stroke rs492602-C of NONHSAT067101.2 is significantly associated with the vitamin b levels in ischemic stroke by using GWAS analysis in 1,725 european ancestry cases//258 african ancestry cases//117 cases(p-value = 2E-7 ;OR = 0.143). 0.4 Genetic Associations with Plasma B12, B6, and Folate Levels in an Ischemic Stroke Population from the Vitamin Intervention for Stroke Prevention (VISP) Trial. NCRV0000003185 27863252 NONHSAT221416.1 rs8176759 A N/A 164,339 european ancestry individuals EFO_0007985 N/A Associate Plateletcrit rs8176759-A of NONHSAT221416.1 is significantly associated with the plateletcrit by using GWAS analysis in 164,339 european ancestry individuals(p-value = 2E-10 ;OR = 0.04763889). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003167 28346442 NONHSAT099095.2 rs4691139 G N/A 2,933 european ancestry carrier cases//16,103 european ancestry carrier controls EFO_0001075 N/A Associate Ovarian cancer in brca1 mutation carriers rs4691139-G of NONHSAT099095.2 is significantly associated with the ovarian cancer in brca1 mutation carriers by using GWAS analysis in 2,933 european ancestry carrier cases//16,103 european ancestry carrier controls(p-value = 4E-7 ;OR = 1.1581223). 0.4 Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer. NCRV0000003510 27639821 NONHSAT166495.1 rs945177 A N/A 149 european ancestry cases//591 european ancestry controls; up to 2,534 individuals HP_0100806 N/A Associate Mortality in sepsis rs945177-A of NONHSAT166495.1 is significantly associated with the mortality in sepsis by using GWAS analysis in 149 european ancestry cases//591 european ancestry controls; up to 2,534 individuals(p-value = 1E-6 ;OR = 14.7). 0.4 Genetic Factors of the Disease Course after Sepsis: A Genome-Wide Study for 28Day Mortality. NCRV0000001806 27863252 NONHSAT197521.1 rs6782812 A N/A 171,996 european ancestry individuals EFO_0007992 N/A Associate Basophil percentage of white cells rs6782812-A of NONHSAT197521.1 is significantly associated with the basophil percentage of white cells by using GWAS analysis in 171,996 european ancestry individuals(p-value = 7E-136 ;OR = 0.1395398). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003877 18650507 NONHSAT161941.1 rs4149056 C N/A 85 european ancestry cases//90 european ancestry controls; 21 european ancestry cases//16,643 european ancestry controls GO_0036273 N/A Associate Response to statin therapy rs4149056-C of NONHSAT161941.1 is significantly associated with the response to statin therapy by using GWAS analysis in 85 european ancestry cases//90 european ancestry controls; 21 european ancestry cases//16,643 european ancestry controls(p-value = 2E-9 ;OR = 4.5). 0.4 SLCO1B1 variants and statin-induced myopathy--a genomewide study. NCRV0000001360 26053186 NONHSAT074724.2 rs73962318 ? N/A 361 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//440 european ancestry current smoker individuals//452 latino current smoker individuals//702 japanese ancestry current smoker individuals EFO_0001071 in smokers Associate 3-hydroxy-1-methylpropylmercapturic acid levels in smokers rs73962318-? of NONHSAT074724.2 is significantly associated with the 3-hydroxy-1-methylpropylmercapturic acid levels in smokers by using GWAS analysis in 361 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//440 european ancestry current smoker individuals//452 latino current smoker individuals//702 japanese ancestry current smoker individuals(p-value = 6E-7 ;OR = 0.3471). 0.4 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. NCRV0000000281 27863252 NONHSAT197521.1 rs6782812 A N/A 170,223 european ancestry individuals EFO_0007995 N/A Associate Basophil percentage of granulocytes rs6782812-A of NONHSAT197521.1 is significantly associated with the basophil percentage of granulocytes by using GWAS analysis in 170,223 european ancestry individuals(p-value = 3E-139 ;OR = 0.1424753). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001447 26343387 NONHSAT072012.2 rs10176176 T N/A 27,509 european ancestry cases//130 african american cases//278 hispanic american cases//10,257 south asian ancestry cases//288 lebanese ancestry cases//1,687 east asian ancestry cases//99,121 european ancestry controls//2,778 african american controls//3,337 hispanic american controls//12,899 south asian ancestry controls//466 lebanese ancestry controls//7,709 east asian ancestry controls EFO_0000612 N/A Associate Myocardial infarction rs10176176-T of NONHSAT072012.2 is significantly associated with the myocardial infarction by using GWAS analysis in 27,509 european ancestry cases//130 african american cases//278 hispanic american cases//10,257 south asian ancestry cases//288 lebanese ancestry cases//1,687 east asian ancestry cases//99,121 european ancestry controls//2,778 african american controls//3,337 hispanic american controls//12,899 south asian ancestry controls//466 lebanese ancestry controls//7,709 east asian ancestry controls(p-value = 3E-10 ;OR = 1.07). 0.4 A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease. NCRV0000002840 21743469 NONHSAT026062.2 rs11616188 A N/A 3,023 european ancestry cases//8,779 european ancestry controls; 2,111 european ancestry cases//4,483 european ancestry controls EFO_0003898 N/A Associate Ankylosing spondylitis rs11616188-A of NONHSAT026062.2 is significantly associated with the ankylosing spondylitis by using GWAS analysis in 3,023 european ancestry cases//8,779 european ancestry controls; 2,111 european ancestry cases//4,483 european ancestry controls(p-value = 4E-12 ;OR = ?). 0.4 Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility. NCRV0000003025 27863252 NONHSAT029939.2 rs59883166 AT N/A 172,433 european ancestry individuals EFO_0004526 N/A Associate Mean corpuscular volume rs59883166-AT of NONHSAT029939.2 is significantly associated with the mean corpuscular volume by using GWAS analysis in 172,433 european ancestry individuals(p-value = 2E-11 ;OR = 0.03858732). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001666 27863252 NONHSAT029939.2 rs59883166 AT N/A 172,332 european ancestry individuals EFO_0004527 N/A Associate Mean corpuscular hemoglobin rs59883166-AT of NONHSAT029939.2 is significantly associated with the mean corpuscular hemoglobin by using GWAS analysis in 172,332 european ancestry individuals(p-value = 6E-17 ;OR = 0.04805726). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001216 26198764 NONHSAT164609.1 rs10783624 C N/A 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls EFO_0000692 N/A Associate Schizophrenia rs10783624-C of NONHSAT164609.1 is significantly associated with the schizophrenia by using GWAS analysis in 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls(p-value = 2E-6 ;OR = 1.0526316). 0.4 Genome-wide association study of schizophrenia in Ashkenazi Jews. NCRV0000000273 23509613 NONHSAT183211.1 rs13403289 ? N/A 183 european ancestry acl-positive cases//487 european ancestry acl-negative controls//127 european ancestry lac-positive cases//581 european ancestry lac-negative controls//136 european ancestry anti-b2gpi-positive cases//360 european ancestry anti-b2gpi-negative controls EFO_0005200 N/A Associate Presence of antiphospholipid antibodies rs13403289-? of NONHSAT183211.1 is significantly associated with the presence of antiphospholipid antibodies by using GWAS analysis in 183 european ancestry acl-positive cases//487 european ancestry acl-negative controls//127 european ancestry lac-positive cases//581 european ancestry lac-negative controls//136 european ancestry anti-b2gpi-positive cases//360 european ancestry anti-b2gpi-negative controls(p-value = 6E-6 ;OR = 2.423). 0.4 Genome-wide association study of antiphospholipid antibodies. NCRV0000000500 25673413 NONHSAT169755.1 rs709400 A N/A up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals EFO_0001073 N/A Associate Body mass index rs709400-A of NONHSAT169755.1 is significantly associated with the body mass index by using GWAS analysis in up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals(p-value = 3E-6 ;OR = 0.019). 0.4 Genetic studies of body mass index yield new insights for obesity biology. NCRV0000002370 25574825 NONHSAT203488.1 rs2546890 ? N/A 2,079 european ancestry atopic dermatitis cases//4,212 european ancestry psoriasis cases//11,899 european ancestry controls EFO_0000676 N/A Associate Inflammatory skin disease rs2546890-? of NONHSAT203488.1 is significantly associated with the inflammatory skin disease by using GWAS analysis in 2,079 european ancestry atopic dermatitis cases//4,212 european ancestry psoriasis cases//11,899 european ancestry controls(p-value = 3E-35 ;OR = 1.39). 0.4 Genome-wide comparative analysis of atopic dermatitis and psoriasis gives insight into opposing genetic mechanisms. NCRV0000002401 25201988 NONHSAT220138.1 rs1970584 A N/A 106,736 european ancestry individuals EFO_0004784 N/A Associate Educational attainment rs1970584-A of NONHSAT220138.1 is significantly associated with the educational attainment by using GWAS analysis in 106,736 european ancestry individuals(p-value = 5E-7 ;OR = 0.048). 0.4 Common genetic variants associated with cognitive performance identified using the proxy-phenotype method. NCRV0000000060 27089181 NONHSAT174300.1 rs11644362 T N/A 298,420 korculan (founder/genetic isolate)//split (founder/genetic isolate)//vis (founder/genetic isolate)//erasmus rucphen (founder/genetic isolate) and other european ancestry individuals EFO_0007869 N/A Associate Positive affect rs11644362-T of NONHSAT174300.1 is significantly associated with the positive affect by using GWAS analysis in 298,420 korculan (founder/genetic isolate)//split (founder/genetic isolate)//vis (founder/genetic isolate)//erasmus rucphen (founder/genetic isolate) and other european ancestry individuals(p-value = 7E-6 ;OR = 0.0156). 0.4 Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses. NCRV0000002559 21900946 NONHSAT108579.2 rs4313034 T N/A 1,119 japanese ancestry cases//2,718 japanese ancestry controls; 432 japanese ancestry cases//1,157 japanese ancestry controls EFO_0004237 N/A Associate Graves' disease rs4313034-T of NONHSAT108579.2 is significantly associated with the graves' disease by using GWAS analysis in 1,119 japanese ancestry cases//2,718 japanese ancestry controls; 432 japanese ancestry cases//1,157 japanese ancestry controls(p-value = 2E-15 ;OR = 1.67). 0.4 Identification of independent risk loci for Graves' disease within the MHC in the Japanese population. NCRV0000002056 19079260 NONHSAT165403.1 rs7336332 G N/A 72,598 european ancestry individuals//1,160 african american individuals; up to 11,036 european ancestry individuals//32,615 individuals EFO_0004338 N/A Associate Weight rs7336332-G of NONHSAT165403.1 is significantly associated with the weight by using GWAS analysis in 72,598 european ancestry individuals//1,160 african american individuals; up to 11,036 european ancestry individuals//32,615 individuals(p-value = 1E-6 ;OR = 4.01). 0.4 Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity. NCRV0000002687 25936594 NONHSAT208963.1 rs886424 A N/A 346 european ancestry cases//727 european ancestry controls; 185 european ancestry cases//340 european ancestry controls EFO_0006812 N/A Associate Type 1 diabetes and autoimmune thyroid diseases rs886424-A of NONHSAT208963.1 is significantly associated with the type 1 diabetes and autoimmune thyroid diseases by using GWAS analysis in 346 european ancestry cases//727 european ancestry controls; 185 european ancestry cases//340 european ancestry controls(p-value = 3E-14 ;OR = 2.2107). 0.4 Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes. NCRV0000001849 28928442 NONHSAT108895.2 rs169504 ? N/A 40,600 european ancestry cases//90,039 european ancestry controls EFO_0008410 N/A Associate Pneumonia rs169504-? of NONHSAT108895.2 is significantly associated with the pneumonia by using GWAS analysis in 40,600 european ancestry cases//90,039 european ancestry controls(p-value = 5E-9 ;OR = 0.0694). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. NCRV0000003610 23472165 NONHSAT208843.1 rs6907340 A N/A 1,514 european ancestry cases//12,660 european ancestry controls; 505 european ancestry cases//1,811 european ancestry controls EFO_0001065 N/A Associate Endometriosis rs6907340-A of NONHSAT208843.1 is significantly associated with the endometriosis by using GWAS analysis in 1,514 european ancestry cases//12,660 european ancestry controls; 505 european ancestry cases//1,811 european ancestry controls(p-value = 2E-7 ;OR = 1.2). 0.4 Genome-wide association study link novel loci to endometriosis. NCRV0000003433 27863252 NONHSAT154780.1 rs58653258 C N/A 169,545 european ancestry individuals EFO_0007997 N/A Associate Granulocyte percentage of myeloid white cells rs58653258-C of NONHSAT154780.1 is significantly associated with the granulocyte percentage of myeloid white cells by using GWAS analysis in 169,545 european ancestry individuals(p-value = 4E-10 ;OR = 0.03826984). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001572 28545128 NONHSAT018944.2 rs10742682 T N/A 2,101 european ancestry child cases//4,202 european ancestry controls; 365 african american child cases//2,491 african american controls//427 european ancestry cases//783 european ancestry controls//371 cases//1,122 controls EFO_0000621 N/A Associate Sporadic neuroblastoma rs10742682-T of NONHSAT018944.2 is significantly associated with the sporadic neuroblastoma by using GWAS analysis in 2,101 european ancestry child cases//4,202 european ancestry controls; 365 african american child cases//2,491 african american controls//427 european ancestry cases//783 european ancestry controls//371 cases//1,122 controls(p-value = 1E-7 ;OR = 1.24). 0.4 Common variants upstream of MLF1 at 3q25 and within CPZ at 4p16 associated with neuroblastoma. NCRV0000003637 21441570 NONHSAT208233.1 rs7772697 T N/A 973 european ancestry cases//1,856 european ancestry controls EFO_0003770 N/A Associate Diabetic retinopathy rs7772697-T of NONHSAT208233.1 is significantly associated with the diabetic retinopathy by using GWAS analysis in 973 european ancestry cases//1,856 european ancestry controls(p-value = 3E-6 ;OR = 1.35). 0.4 Genome-wide meta-analysis for severe diabetic retinopathy. NCRV0000002938 23284291 NONHSAT133371.2 rs16909898 ? N/A 50,047 european ancestry individuals EFO_0003892 smoking interaction Associate Pulmonary function (smoking interaction) rs16909898-? of NONHSAT133371.2 is significantly associated with the pulmonary function (smoking interaction) by using GWAS analysis in 50,047 european ancestry individuals(p-value = 8E-12 ;OR = ?). 0.4 Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function. NCRV0000000258 27798624 NONHSAT164585.1 rs10880689 G N/A 127,919 european ancestry individuals//2,478 asian ancestry individuals//1,734 black individuals//684 mixed ancestry individuals//1,436 individuals; 130,795 european ancestry individuals EFO_0003777 N/A Associate Resting heart rate rs10880689-G of NONHSAT164585.1 is significantly associated with the resting heart rate by using GWAS analysis in 127,919 european ancestry individuals//2,478 asian ancestry individuals//1,734 black individuals//684 mixed ancestry individuals//1,436 individuals; 130,795 european ancestry individuals(p-value = 8E-10 ;OR = 0.2084). 0.4 Identification of genomic loci associated with resting heart rate and shared genetic predictors with all-cause mortality. NCRV0000003438 23870195 NONHSAT178942.1 rs10502575 A N/A 5,823 african american individuals; 9,992 european ancestry individuals EFO_0004723 N/A Associate Coronary artery calcification rs10502575-A of NONHSAT178942.1 is significantly associated with the coronary artery calcification by using GWAS analysis in 5,823 african american individuals; 9,992 european ancestry individuals(p-value = 1E-7 ;OR = 0.22). 0.4 Genetics of coronary artery calcification among African Americans, a meta-analysis. NCRV0000000076 20385819 NONHSAT158562.1 rs3793917 G N/A 2,157 european ancestry cases//1,150 european ancestry controls; 7,892 european ancestry cases//5,998 european ancestry controls//678 japanese ancestry cases//336 japanese ancestry controls EFO_0001365 N/A Associate Age-related macular degeneration rs3793917-G of NONHSAT158562.1 is significantly associated with the age-related macular degeneration by using GWAS analysis in 2,157 european ancestry cases//1,150 european ancestry controls; 7,892 european ancestry cases//5,998 european ancestry controls//678 japanese ancestry cases//336 japanese ancestry controls(p-value = 4E-60 ;OR = 3.4). 0.4 Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration. NCRV0000003136 20585627 NONHSAT108741.2 rs6903896 ? N/A 9,126 european ancestry individuals HP_0025095 N/A Associate Common traits (other) rs6903896-? of NONHSAT108741.2 is significantly associated with the common traits (other) by using GWAS analysis in 9,126 european ancestry individuals(p-value = 6E-7 ;OR = ?). 0.4 Web-based, participant-driven studies yield novel genetic associations for common traits. NCRV0000000966 17554300 NONHSAT206337.1 rs6596075 C N/A 1,748 european ancestry cases//2,938 european ancestry controls; (see parkes 2007) EFO_0000384 N/A Associate Crohn's disease rs6596075-C of NONHSAT206337.1 is significantly associated with the crohn's disease by using GWAS analysis in 1,748 european ancestry cases//2,938 european ancestry controls; (see parkes 2007)(p-value = 3E-6 ;OR = 1.55). 0.4 Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. NCRV0000003042 24753544 NONHSAT216396.1 rs6983267 G N/A 1,146 european ancestry cases//1,804 european ancestry controls; 1,854 european ancestry cases//1,437 european ancestry controls EFO_0001663 N/A Associate Prostate cancer rs6983267-G of NONHSAT216396.1 is significantly associated with the prostate cancer by using GWAS analysis in 1,146 european ancestry cases//1,804 european ancestry controls; 1,854 european ancestry cases//1,437 european ancestry controls(p-value = 4E-15 ;OR = 0.29). 0.4 Genetic variation in prostate-specific antigen-detected prostate cancer and the effect of control selection on genetic association studies. NCRV0000001097 28441456 NONHSAT056292.2 rs117691352 A N/A 2,187 european ancestry individuals EFO_0007841 N/A Associate Facial morphology (factor 16) rs117691352-A of NONHSAT056292.2 is significantly associated with the facial morphology (factor 16) by using GWAS analysis in 2,187 european ancestry individuals(p-value = 7E-8 ;OR = 0.5077). 0.4 Genome-wide association study of facial morphology reveals novel associations with FREM1 and PARK2. NCRV0000003168 25282103 NONHSAT096531.2 rs17081935 T N/A 253,288 european ancestry individuals; 80,067 european ancestry individuals EFO_0004339 N/A Associate Height rs17081935-T of NONHSAT096531.2 is significantly associated with the height by using GWAS analysis in 253,288 european ancestry individuals; 80,067 european ancestry individuals(p-value = 7E-17 ;OR = 0.031). 0.4 Defining the role of common variation in the genomic and biological architecture of adult human height. NCRV0000000393 20231535 NONHSAT208215.1 rs9390459 ? N/A 17,596 european ancestry individuals; up to 7,604 european ancestry individuals EFO_0004629 N/A Associate Vwf levels rs9390459-? of NONHSAT208215.1 is significantly associated with the vwf levels by using GWAS analysis in 17,596 european ancestry individuals; up to 7,604 european ancestry individuals(p-value = 1E-22 ;OR = 4.8). 0.4 Novel associations of multiple genetic loci with plasma levels of factor VII, factor VIII, and von Willebrand factor: The CHARGE (Cohorts for Heart and Aging Research in Genome Epidemiology) Consortium. NCRV0000002962 21900946 NONHSAT210420.1 rs4713693 T N/A 1,119 japanese ancestry cases//2,718 japanese ancestry controls; 432 japanese ancestry cases//1,157 japanese ancestry controls EFO_0004237 N/A Associate Graves' disease rs4713693-T of NONHSAT210420.1 is significantly associated with the graves' disease by using GWAS analysis in 1,119 japanese ancestry cases//2,718 japanese ancestry controls; 432 japanese ancestry cases//1,157 japanese ancestry controls(p-value = 7E-13 ;OR = 1.4). 0.4 Identification of independent risk loci for Graves' disease within the MHC in the Japanese population. NCRV0000001812 24554482 NONHSAT187341.1 rs2708973 ? N/A 19 european ancestry cases//30 african american cases//9 hispanic cases//85 european ancestry controls//49 african american controls//30 hispanic controls EFO_0000180 N/A Associate Response to anti-retroviral therapy (ddi/d4t) in hiv-1 infection (grade 2 peripheral neuropathy) rs2708973-? of NONHSAT187341.1 is significantly associated with the response to anti-retroviral therapy (ddi/d4t) in hiv-1 infection (grade 2 peripheral neuropathy) by using GWAS analysis in 19 european ancestry cases//30 african american cases//9 hispanic cases//85 european ancestry controls//49 african american controls//30 hispanic controls(p-value = 3E-6 ;OR = 31.7). 0.4 Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384. NCRV0000001853 27082954 NONHSAT166694.1 rs7982202 ? N/A 104 european ancestry cases//1,519 european ancestry controls//34 african american cases//520 african american controls EFO_0004265 traffic-related air pollution interaction Associate Peripheral arterial disease (traffic-related air pollution interaction) rs7982202-? of NONHSAT166694.1 is significantly associated with the peripheral arterial disease (traffic-related air pollution interaction) by using GWAS analysis in 104 european ancestry cases//1,519 european ancestry controls//34 african american cases//520 african american controls(p-value = 9E-6 ;OR = 6.73). 0.4 Genetic Variants in the Bone Morphogenic Protein Gene Family Modify the Association between Residential Exposure to Traffic and Peripheral Arterial Disease. NCRV0000003055 27863252 NONHSAT221416.1 rs8176759 A N/A 169,545 european ancestry individuals EFO_0007997 N/A Associate Granulocyte percentage of myeloid white cells rs8176759-A of NONHSAT221416.1 is significantly associated with the granulocyte percentage of myeloid white cells by using GWAS analysis in 169,545 european ancestry individuals(p-value = 4E-14 ;OR = 0.05503941). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002275 25108383 NONHSAT115361.2 rs10979 A N/A 1,006 european ancestry male child cases//2,390 european ancestry male child controls//3,096 european ancestry female child controls; 1,972 european ancestry male child cases//1,401 european ancestry male child controls//405 european ancestry female child controls//6 european ancestry child controls EFO_0004209 N/A Associate Hypospadias rs10979-A of NONHSAT115361.2 is significantly associated with the hypospadias by using GWAS analysis in 1,006 european ancestry male child cases//2,390 european ancestry male child controls//3,096 european ancestry female child controls; 1,972 european ancestry male child cases//1,401 european ancestry male child controls//405 european ancestry female child controls//6 european ancestry child controls(p-value = 1E-6 ;OR = 1.1943). 0.4 Genome-wide association analyses identify variants in developmental genes associated with hypospadias. NCRV0000001205 29235454 NONHSAT106513.2 rs2745572 ? N/A 56,819 european ancestry individuals//5,748 hispanic/latino individuals//5,119 east asian ancestry individuals//2,070 african american individuals; 37,930 european and asian ancestry individuals EFO_0004695 N/A Associate Intraocular pressure rs2745572-? of NONHSAT106513.2 is significantly associated with the intraocular pressure by using GWAS analysis in 56,819 european ancestry individuals//5,748 hispanic/latino individuals//5,119 east asian ancestry individuals//2,070 african american individuals; 37,930 european and asian ancestry individuals(p-value = 4E-17 ;OR = 0.11). 0.4 A large multi-ethnic genome-wide association study identifies novel genetic loci for intraocular pressure. NCRV0000003612 28957384 NONHSAT218138.1 rs7459609 T N/A 1,421 european ancestry cases//154 hispanic/latino cases//121 east asian ancestry cases//81,843 european ancestry controls//8,406 hispanic/latino controls//7,397 east asian ancestry controls EFO_1002021 N/A Associate Ankle injury rs7459609-T of NONHSAT218138.1 is significantly associated with the ankle injury by using GWAS analysis in 1,421 european ancestry cases//154 hispanic/latino cases//121 east asian ancestry cases//81,843 european ancestry controls//8,406 hispanic/latino controls//7,397 east asian ancestry controls(p-value = 8E-7 ;OR = 1.3844). 0.4 Two genetic loci associated with ankle injury. NCRV0000002311 28540026 NONHSAT048434.2 rs4702 ? N/A up to 6,197 european ancestry asd cases//up to 7,377 european ancestry controls//up to 1,190 asd cases//up to 1,190 controls EFO_0003756 N/A Associate Autism spectrum disorder rs4702-? of NONHSAT048434.2 is significantly associated with the autism spectrum disorder by using GWAS analysis in up to 6,197 european ancestry asd cases//up to 7,377 european ancestry controls//up to 1,190 asd cases//up to 1,190 controls(p-value = 1E-10 ;OR = 1.0638298). 0.4 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. NCRV0000000530 23251661 NONHSAT196374.1 rs1913185 C N/A 815 hispanic children from 263 families EFO_0005110 N/A Associate Obesity-related traits rs1913185-C of NONHSAT196374.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 2E-7 ;OR = 0.04). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. NCRV0000003399 27702941 NONHSAT211718.1 rs6968554 A N/A 9,054 european ancestry individuals; 822 european ancestry individuals EFO_0007872 N/A Associate Caffeine metabolism (plasma 1,3,7-trimethylxanthine (caffeine) level) rs6968554-A of NONHSAT211718.1 is significantly associated with the caffeine metabolism (plasma 1,3,7-trimethylxanthine (caffeine) level) by using GWAS analysis in 9,054 european ancestry individuals; 822 european ancestry individuals(p-value = 5E-13 ;OR = 7.22). 0.4 Genome-wide association study of caffeine metabolites provides new insights to caffeine metabolism and dietary caffeine-consumption behavior. NCRV0000000575 22675492 NONHSAT173066.1 rs12596210 C N/A 1,598 european ancestry female individuals EFO_0004696 N/A Associate Sex hormone-binding globulin levels rs12596210-C of NONHSAT173066.1 is significantly associated with the sex hormone-binding globulin levels by using GWAS analysis in 1,598 european ancestry female individuals(p-value = 9E-6 ;OR = 0.12). 0.4 Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women. NCRV0000002671 28928442 NONHSAT081010.2 rs41278232 G N/A 60,098 european ancestry cases//113,323 european ancestry controls EFO_0007924 N/A Associate Tonsillectomy rs41278232-G of NONHSAT081010.2 is significantly associated with the tonsillectomy by using GWAS analysis in 60,098 european ancestry cases//113,323 european ancestry controls(p-value = 8E-9 ;OR = 1.08). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. NCRV0000000031 29071344 NONHSAT182955.1 rs115182184 G N/A 3,041 african american individuals//1,618 european ancestry individuals; 1,612 african american individuals//1,551 european ancestry individuals EFO_0003761 N/A Associate Major depression and alcohol dependence rs115182184-G of NONHSAT182955.1 is significantly associated with the major depression and alcohol dependence by using GWAS analysis in 3,041 african american individuals//1,618 european ancestry individuals; 1,612 african american individuals//1,551 european ancestry individuals(p-value = 8E-6 ;OR = 0.952). 0.4 Genetic Risk Variants Associated With Comorbid Alcohol Dependence and Major Depression. NCRV0000001040 26390057 NONHSAT176422.1 rs2240736 T N/A 31,516 east asian ancestry individuals// 35,352 european ancestry individuals//33,126 south asian ancestry individuals; 87,205 individuals//48,268 east asian ancestry individuals//68,456 european ancestry individuals and 16,328 south asian ancestry individuals EFO_0006340 N/A Associate Mean arterial pressure rs2240736-T of NONHSAT176422.1 is significantly associated with the mean arterial pressure by using GWAS analysis in 31,516 east asian ancestry individuals// 35,352 european ancestry individuals//33,126 south asian ancestry individuals; 87,205 individuals//48,268 east asian ancestry individuals//68,456 european ancestry individuals and 16,328 south asian ancestry individuals(p-value = 2E-16 ;OR = 0.34944525). 0.4 Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation. NCRV0000003141 26634245 NONHSAT101165.2 rs139817151 G N/A 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio in copd rs139817151-G of NONHSAT101165.2 is significantly associated with the post bronchodilator fev1/fvc ratio in copd by using GWAS analysis in 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases(p-value = 5E-6 ;OR = 0.249). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000001210 28960316 NONHSAT216396.1 rs6983267 G N/A 1,701 finnish ancestry cases//14,082 finnish ancestry controls; 11,647 european ancestry cases//12,356 european ancestry controls EFO_0005842 N/A Associate Colorectal cancer rs6983267-G of NONHSAT216396.1 is significantly associated with the colorectal cancer by using GWAS analysis in 1,701 finnish ancestry cases//14,082 finnish ancestry controls; 11,647 european ancestry cases//12,356 european ancestry controls(p-value = 2E-21 ;OR = 1.18). 0.4 Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci. NCRV0000002108 20037589 NONHSAT003984.2 rs211718 C N/A 1,029 european ancestry individuals; 1,202 european ancestry individuals EFO_0004725 N/A Associate Metabolite levels rs211718-C of NONHSAT003984.2 is significantly associated with the metabolite levels by using GWAS analysis in 1,029 european ancestry individuals; 1,202 european ancestry individuals(p-value = 1E-63 ;OR = 0.12). 0.4 A genome-wide perspective of genetic variation in human metabolism. NCRV0000000381 20383146 NONHSAT071625.2 rs13538 G N/A up to 67,093 european ancestry individuals; up to 22,982 european ancestry individuals EFO_0003884 N/A Associate Chronic kidney disease rs13538-G of NONHSAT071625.2 is significantly associated with the chronic kidney disease by using GWAS analysis in up to 67,093 european ancestry individuals; up to 22,982 european ancestry individuals(p-value = 5E-14 ;OR = 0.01). 0.4 New loci associated with kidney function and chronic kidney disease. NCRV0000001602 26634245 NONHSAT173236.1 rs12927768 A N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs12927768-A of NONHSAT173236.1 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 2E-6 ;OR = 0.156). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000003768 27863252 NONHSAT056011.2 rs549579958 C N/A 171,643 european ancestry individuals EFO_0004587 N/A Associate Lymphocyte counts rs549579958-C of NONHSAT056011.2 is significantly associated with the lymphocyte counts by using GWAS analysis in 171,643 european ancestry individuals(p-value = 5E-14 ;OR = 0.2219553). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001350 28135244 NONHSAT075223.2 rs34271465 ? N/A 140,882 european ancestry individuals; 190,318 european ancestry individuals EFO_0000319 N/A Associate Systolic blood pressure rs34271465-? of NONHSAT075223.2 is significantly associated with the systolic blood pressure by using GWAS analysis in 140,882 european ancestry individuals; 190,318 european ancestry individuals(p-value = 1E-11 ;OR = 0.317). 0.4 Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk. NCRV0000000135 20686565 NONHSAT192354.1 rs5756931 C N/A 96,598 european ancestry individuals EFO_0000319 N/A Associate Triglycerides rs5756931-C of NONHSAT192354.1 is significantly associated with the triglycerides by using GWAS analysis in 96,598 european ancestry individuals(p-value = 4E-8 ;OR = 1.54). 0.4 Biological, clinical and population relevance of 95 loci for blood lipids. NCRV0000002898 28240269 NONHSAT202533.1 rs10473230 C N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008093 N/A Associate Blood protein levels rs10473230-C of NONHSAT202533.1 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 4E-12 ;OR = 0.4058). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. NCRV0000000145 27863252 NONHSAT193035.1 rs5769707 T N/A 170,721 european ancestry individuals EFO_0005091 N/A Associate Monocyte count rs5769707-T of NONHSAT193035.1 is significantly associated with the monocyte count by using GWAS analysis in 170,721 european ancestry individuals(p-value = 7E-11 ;OR = 0.02392192). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002225 27225129 NONHSAT089768.2 rs11712056 T N/A 280,007 european ancestry individuals EFO_0004784 N/A Associate Educational attainment (college completion) rs11712056-T of NONHSAT089768.2 is significantly associated with the educational attainment (college completion) by using GWAS analysis in 280,007 european ancestry individuals(p-value = 2E-16 ;OR = 1.0500073). 0.4 Genome-wide association study identifies 74 loci associated with educational attainment. NCRV0000000604 25939597 NONHSAT200257.1 rs7679673 C N/A 4,600 european ancestry cases//2,941 european ancestry controls; 7,779 european ancestry cases//7,623 european ancestry controls EFO_0001663 N/A Associate Prostate cancer rs7679673-C of NONHSAT200257.1 is significantly associated with the prostate cancer by using GWAS analysis in 4,600 european ancestry cases//2,941 european ancestry controls; 7,779 european ancestry cases//7,623 european ancestry controls(p-value = 4E-9 ;OR = 1.12). 0.4 Two susceptibility loci identified for prostate cancer aggressiveness. NCRV0000000716 26502338 NONHSAT018769.2 rs2732549 T N/A 5,201 european ancestry cases//9,066 european ancestry controls; 2,018 european ancestry cases//6,925 european ancestry controls EFO_0002690 N/A Associate Systemic lupus erythematosus rs2732549-T of NONHSAT018769.2 is significantly associated with the systemic lupus erythematosus by using GWAS analysis in 5,201 european ancestry cases//9,066 european ancestry controls; 2,018 european ancestry cases//6,925 european ancestry controls(p-value = 1E-23 ;OR = 1.24). 0.4 Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus. NCRV0000000465 26198764 NONHSAT089960.2 rs2535627 T N/A 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls EFO_0000692 N/A Associate Schizophrenia rs2535627-T of NONHSAT089960.2 is significantly associated with the schizophrenia by using GWAS analysis in 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls(p-value = 2E-11 ;OR = 1.07). 0.4 Genome-wide association study of schizophrenia in Ashkenazi Jews. NCRV0000002360 27067015 NONHSAT177666.1 rs1187264 C N/A 91,370 european ancestry individuals//15,346 individuals EFO_0007660 N/A Associate Neuroticism rs1187264-C of NONHSAT177666.1 is significantly associated with the neuroticism by using GWAS analysis in 91,370 european ancestry individuals//15,346 individuals(p-value = 1E-8 ;OR = 0.118). 0.4 Genome-wide analysis of over 106 000 individuals identifies 9 neuroticism-associated loci. NCRV0000002086 23144326 NONHSAT031256.2 rs7953249 G N/A up to 1,951 european ancestry smokers EFO_0000341 N/A Associate Chronic obstructive pulmonary disease-related biomarkers rs7953249-G of NONHSAT031256.2 is significantly associated with the chronic obstructive pulmonary disease-related biomarkers by using GWAS analysis in up to 1,951 european ancestry smokers(p-value = 1E-6 ;OR = ?). 0.4 Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease. NCRV0000001196 28394258 NONHSAT007202.2 rs953301 A N/A 30,201 european ancestry individuals EFO_0003777 N/A Associate Left atrial antero-posterior diameter rs953301-A of NONHSAT007202.2 is significantly associated with the left atrial antero-posterior diameter by using GWAS analysis in 30,201 european ancestry individuals(p-value = 8E-6 ;OR = 0.0464). 0.4 Large-scale genome-wide analysis identifies genetic variants associated with cardiac structure and function. NCRV0000002232 24262325 NONHSAT208057.1 rs12190287 ? N/A 33,398 cases//75,726 controls EFO_0000378 N/A Associate Coronary artery disease rs12190287-? of NONHSAT208057.1 is significantly associated with the coronary artery disease by using GWAS analysis in 33,398 cases//75,726 controls(p-value = 2E-9 ;OR = 1.1111). 0.4 Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants. NCRV0000003905 19079260 NONHSAT186578.1 rs7561317 G N/A 72,598 european ancestry individuals//1,160 african american individuals; up to 11,036 european ancestry individuals//32,615 individuals EFO_0004338 N/A Associate Weight rs7561317-G of NONHSAT186578.1 is significantly associated with the weight by using GWAS analysis in 72,598 european ancestry individuals//1,160 african american individuals; up to 11,036 european ancestry individuals//32,615 individuals(p-value = 2E-18 ;OR = 6.47). 0.4 Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity. NCRV0000003885 23382691 NONHSAT129174.2 rs10108033 C N/A 2,247 european ancestry individuals EFO_0002690 N/A Associate Igg glycosylation rs10108033-C of NONHSAT129174.2 is significantly associated with the igg glycosylation by using GWAS analysis in 2,247 european ancestry individuals(p-value = 1E-6 ;OR = 2.9565). 0.4 Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. NCRV0000001658 22916037 NONHSAT179794.1 rs445925 ? N/A 6,608 european ancestry individuals EFO_0004723 N/A Associate Metabolite levels rs445925-? of NONHSAT179794.1 is significantly associated with the metabolite levels by using GWAS analysis in 6,608 european ancestry individuals(p-value = 6E-42 ;OR = ?). 0.4 Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis. NCRV0000003542 27863252 NONHSAT093154.2 rs9811216 C N/A 170,672 european ancestry individuals EFO_0007994 N/A Associate Neutrophil percentage of granulocytes rs9811216-C of NONHSAT093154.2 is significantly associated with the neutrophil percentage of granulocytes by using GWAS analysis in 170,672 european ancestry individuals(p-value = 6E-14 ;OR = 0.03071594). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002021 22491018 NONHSAT166399.1 rs9604529 ? N/A 1,157 european and other ancestry rheumatoid arthritis cases; 526 european and other ancestry rheumatoid arthritis cases EFO_0000685 tocilizumab Associate Response to tocilizumab in rheumatoid arthritis rs9604529-? of NONHSAT166399.1 is significantly associated with the response to tocilizumab in rheumatoid arthritis by using GWAS analysis in 1,157 european and other ancestry rheumatoid arthritis cases; 526 european and other ancestry rheumatoid arthritis cases(p-value = 7E-7 ;OR = 0.35). 0.4 Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis. NCRV0000001762 28334899 NONHSAT010304.2 rs2587534 A N/A 32,285 east asian ancestry individuals//173,082 european ancestry individuals; 8,478 chinese ancestry individuals EFO_0000319 N/A Associate Ldl cholesterol levels rs2587534-A of NONHSAT010304.2 is significantly associated with the ldl cholesterol levels by using GWAS analysis in 32,285 east asian ancestry individuals//173,082 european ancestry individuals; 8,478 chinese ancestry individuals(p-value = 2E-23 ;OR = 0.0391). 0.4 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels. NCRV0000001336 27863252 NONHSAT198500.1 rs901705 G N/A 170,494 european ancestry individuals EFO_0007989 N/A Associate Monocyte percentage of white cells rs901705-G of NONHSAT198500.1 is significantly associated with the monocyte percentage of white cells by using GWAS analysis in 170,494 european ancestry individuals(p-value = 2E-14 ;OR = 0.0291822). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003291 28334935 NONHSAT108210.2 rs1799945 C N/A 12,580 hispanic/latino individuals EFO_0006332 N/A Associate Iron status biomarkers (iron levels) rs1799945-C of NONHSAT108210.2 is significantly associated with the iron status biomarkers (iron levels) by using GWAS analysis in 12,580 hispanic/latino individuals(p-value = 4E-26 ;OR = 0.365). 0.4 Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation? NCRV0000000399 28334935 NONHSAT108210.2 rs1799945 C N/A 12,589 hispanic/latino individuals EFO_0006333 N/A Associate Iron status biomarkers (transferrin saturation) rs1799945-C of NONHSAT108210.2 is significantly associated with the iron status biomarkers (transferrin saturation) by using GWAS analysis in 12,589 hispanic/latino individuals(p-value = 2E-38 ;OR = 0.274). 0.4 Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation? NCRV0000003973 27863252 NONHSAT076891.2 rs55799208 A N/A 169,822 european ancestry individuals EFO_0007987 N/A Associate Granulocyte count rs55799208-A of NONHSAT076891.2 is significantly associated with the granulocyte count by using GWAS analysis in 169,822 european ancestry individuals(p-value = 8E-42 ;OR = 0.4863582). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003603 27863252 NONHSAT076891.2 rs55799208 A N/A 169,219 european ancestry individuals EFO_0007988 N/A Associate Myeloid white cell count rs55799208-A of NONHSAT076891.2 is significantly associated with the myeloid white cell count by using GWAS analysis in 169,219 european ancestry individuals(p-value = 3E-40 ;OR = 0.4780301). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003418 27863252 NONHSAT076891.2 rs55799208 A N/A 170,494 european ancestry individuals EFO_0007989 N/A Associate Monocyte percentage of white cells rs55799208-A of NONHSAT076891.2 is significantly associated with the monocyte percentage of white cells by using GWAS analysis in 170,494 european ancestry individuals(p-value = 5E-11 ;OR = 0.2343691). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001014 26831199 NONHSAT217977.1 rs10109414 T N/A 118,448 european ancestry individuals; 36,433 european ancestry individuals EFO_0003884 N/A Associate Glomerular filtration rate in non diabetics (creatinine) rs10109414 -T of NONHSAT217977.1 is significantly associated with the glomerular filtration rate in non diabetics (creatinine) by using GWAS analysis in 118,448 european ancestry individuals; 36,433 european ancestry individuals(p-value = 4E-16 ;OR = 0.0075). 0.4 Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function. NCRV0000001799 26634245 NONHSAT173314.1 rs58423913 C N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs58423913-C of NONHSAT173314.1 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 4E-6 ;OR = 0.038). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000002194 27863252 NONHSAT151331.1 rs157198 C N/A 164,454 european ancestry individuals EFO_0004584 N/A Associate Mean platelet volume rs157198-C of NONHSAT151331.1 is significantly associated with the mean platelet volume by using GWAS analysis in 164,454 european ancestry individuals(p-value = 5E-19 ;OR = 0.06131747). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000331 27863252 NONHSAT197522.1 rs11359909 A N/A 169,219 european ancestry individuals EFO_0007988 N/A Associate Myeloid white cell count rs11359909-A of NONHSAT197522.1 is significantly associated with the myeloid white cell count by using GWAS analysis in 169,219 european ancestry individuals(p-value = 5E-21 ;OR = 0.05511717). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002075 27989323 NONHSAT197636.1 rs73162807 C N/A 8,293 finnish ancestry individuals EFO_0008264 N/A Associate Platelet-derived growth factor bb levels rs73162807-C of NONHSAT197636.1 is significantly associated with the platelet-derived growth factor bb levels by using GWAS analysis in 8,293 finnish ancestry individuals(p-value = 2E-6 ;OR = 0.2391). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. NCRV0000003179 25461247 NONHSAT215574.1 rs9314308 C N/A up to 737 european ancestry individuals//up to 545 black individuals//up to 314 hispanic individuals EFO_0000180 N/A Associate Response to efavirenz-containing treatment in hiv 1 infection (virologic failure) rs9314308-C of NONHSAT215574.1 is significantly associated with the response to efavirenz-containing treatment in hiv 1 infection (virologic failure) by using GWAS analysis in up to 737 european ancestry individuals//up to 545 black individuals//up to 314 hispanic individuals(p-value = 9E-6 ;OR = 1.55). 0.4 Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols. NCRV0000002718 24324551 NONHSAT011516.2 rs56161216 ? N/A 580 brazilian ancestry individuals EFO_0005528 N/A Associate Parasitemia in tripanosoma cruzi seropositivity rs56161216-? of NONHSAT011516.2 is significantly associated with the parasitemia in tripanosoma cruzi seropositivity by using GWAS analysis in 580 brazilian ancestry individuals(p-value = 6E-6 ;OR = ?). 0.4 Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects. NCRV0000001385 18951430 NONHSAT153538.1 rs2180233 C N/A 938 european ancestry trios EFO_0003888 N/A Associate Attention deficit hyperactivity disorder and conduct disorder rs2180233-C of NONHSAT153538.1 is significantly associated with the attention deficit hyperactivity disorder and conduct disorder by using GWAS analysis in 938 european ancestry trios(p-value = 9E-6 ;OR = ?). 0.4 Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study. NCRV0000002824 28443625 NONHSAT218901.1 rs6470765 A N/A 97,400 european ancestry women//63,892 european ancestry men//5,829 european ancestry individuals//10,500 african american/afro-caribbean ancestry women//2,706 african american/afro-caribbean ancestry men//1,030 indian asian ancestry women//7,648 indian asian ancestry men//1,793 filipino ancestry women//2,944 hispanic/latino ancestry women//1,764 hispanic/latino ancestry men; 21,496 european ancestry women//24,385 european ancestry men//118,364 european ancestry individuals//2,326 african american/afro-caribbean ancestry women//855 african american/afro-caribbean ancestry men EFO_0007789 adjusted for BMI (adjusted for smoking behaviour) Associate Waist circumference adjusted for bmi (adjusted for smoking behaviour) rs6470765-A of NONHSAT218901.1 is significantly associated with the waist circumference adjusted for bmi (adjusted for smoking behaviour) by using GWAS analysis in 97,400 european ancestry women//63,892 european ancestry men//5,829 european ancestry individuals//10,500 african american/afro-caribbean ancestry women//2,706 african american/afro-caribbean ancestry men//1,030 indian asian ancestry women//7,648 indian asian ancestry men//1,793 filipino ancestry women//2,944 hispanic/latino ancestry women//1,764 hispanic/latino ancestry men; 21,496 european ancestry women//24,385 european ancestry men//118,364 european ancestry individuals//2,326 african american/afro-caribbean ancestry women//855 african american/afro-caribbean ancestry men(p-value = 3E-12 ;OR = 0.024). 0.4 Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. NCRV0000000172 27182965 NONHSAT160794.1 rs10892173 ? N/A 106,086 european ancestry cases//85,757 european ancestry controls HP_0000545 N/A Associate Myopia rs10892173-? of NONHSAT160794.1 is significantly associated with the myopia by using GWAS analysis in 106,086 european ancestry cases//85,757 european ancestry controls(p-value = 1E-11 ;OR = 1.051). 0.4 Detection and interpretation of shared genetic influences on 42 human traits. NCRV0000001349 28806749 NONHSAT218351.1 rs4738017 G N/A 2,866 european ancestry cases//6,481 european ancestry controls EFO_0001061 N/A Associate Cervical cancer rs4738017-G of NONHSAT218351.1 is significantly associated with the cervical cancer by using GWAS analysis in 2,866 european ancestry cases//6,481 european ancestry controls(p-value = 7E-6 ;OR = 1.174). 0.4 Defining the genetic susceptibility to cervical neoplasia-A genome-wide association study. NCRV0000000353 20585324 NONHSAT145732.2 rs4792394 C N/A 872 european//african american and other ancestry substance dependence cases//3,091 european//african american and other ancestry controls EFO_0004216 N/A Associate Conduct disorder (symptom count) rs4792394-C of NONHSAT145732.2 is significantly associated with the conduct disorder (symptom count) by using GWAS analysis in 872 european//african american and other ancestry substance dependence cases//3,091 european//african american and other ancestry controls(p-value = 9E-6 ;OR = 0.06). 0.4 Genome-wide association study of conduct disorder symptomatology. NCRV0000001080 20881960 NONHSAT160117.1 rs1330 T N/A 133,653 european ancestry individuals; 50,074 european ancestry individuals EFO_0004339 N/A Associate Height rs1330-T of NONHSAT160117.1 is significantly associated with the height by using GWAS analysis in 133,653 european ancestry individuals; 50,074 european ancestry individuals(p-value = 5E-9 ;OR = 0.022). 0.4 Hundreds of variants clustered in genomic loci and biological pathways affect human height. NCRV0000002421 27863252 NONHSAT107867.2 rs9464759 C N/A 172,952 european ancestry individuals EFO_0004305 N/A Associate Red blood cell count rs9464759-C of NONHSAT107867.2 is significantly associated with the red blood cell count by using GWAS analysis in 172,952 european ancestry individuals(p-value = 7E-13 ;OR = 0.04792764). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002804 21886157 NONHSAT200290.1 rs2087160 G N/A 2,820 european ancestry individuals EFO_0004725 N/A Associate Metabolic traits rs2087160-G of NONHSAT200290.1 is significantly associated with the metabolic traits by using GWAS analysis in 2,820 european ancestry individuals(p-value = 7E-13 ;OR = 0.124). 0.4 Human metabolic individuality in biomedical and pharmaceutical research. NCRV0000003465 27899403 NONHSAT165336.1 rs9316871 G N/A 4,972 european ancestry cases//99,858 european ancestry controls; 2,482 european ancestry cases//2,750 cases//2,645 european ancestry controls//5,263 controls EFO_0004214 N/A Associate Abdominal aortic aneurysm rs9316871-G of NONHSAT165336.1 is significantly associated with the abdominal aortic aneurysm by using GWAS analysis in 4,972 european ancestry cases//99,858 european ancestry controls; 2,482 european ancestry cases//2,750 cases//2,645 european ancestry controls//5,263 controls(p-value = 5E-10 ;OR = 1.15). 0.4 Meta-Analysis of Genome-Wide Association Studies for Abdominal Aortic Aneurysm Identifies Four New Disease-Specific Risk Loci. NCRV0000003431 23251661 NONHSAT172439.1 rs744738 A N/A 815 hispanic children from 263 families EFO_0004684 N/A Associate Obesity-related traits rs744738-A of NONHSAT172439.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 6E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. NCRV0000001674 24816252 NONHSAT067873.2 rs2576452 T N/A up to 5,591 european ancestry individuals; up to 1,767 european ancestry individuals EFO_0005664 N/A Associate Blood metabolite ratios rs2576452-T of NONHSAT067873.2 is significantly associated with the blood metabolite ratios by using GWAS analysis in up to 5,591 european ancestry individuals; up to 1,767 european ancestry individuals(p-value = 2E-29 ;OR = 0.028). 0.4 An atlas of genetic influences on human blood metabolites. NCRV0000001060 28448500 NONHSAT210400.1 rs615672 ? N/A 2,518 african american women//85,730 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//54,792 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men EFO_0007789 joint analysis main effects and physical activity interaction Associate Waist circumference adjusted for bmi (joint analysis main effects and physical activity interaction) rs615672-? of NONHSAT210400.1 is significantly associated with the waist circumference adjusted for bmi (joint analysis main effects and physical activity interaction) by using GWAS analysis in 2,518 african american women//85,730 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//54,792 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men(p-value = 1E-7 ;OR = ?). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. NCRV0000003122 26486471 NONHSAT086605.2 rs5995441 ? N/A up to 1,635 european ancestry individuals with low vwf levels//up to 33,286 european ancestry individuals with normal vwf levels EFO_0004629 N/A Associate Low vwf levels rs5995441-? of NONHSAT086605.2 is significantly associated with the low vwf levels by using GWAS analysis in up to 1,635 european ancestry individuals with low vwf levels//up to 33,286 european ancestry individuals with normal vwf levels(p-value = 8E-7 ;OR = ?). 0.4 Genome-wide association studies identify genetic loci for low von Willebrand factor levels. NCRV0000002015 28135244 NONHSAT214604.1 rs77285285 T N/A 140,886 european ancestry individuals; 190,318 european ancestry individuals EFO_0005763 N/A Associate Pulse pressure rs77285285-T of NONHSAT214604.1 is significantly associated with the pulse pressure by using GWAS analysis in 140,886 european ancestry individuals; 190,318 european ancestry individuals(p-value = 4E-7 ;OR = 0.5404). 0.4 Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk. NCRV0000001863 27863252 NONHSAT076891.2 rs55799208 A N/A 171,542 european ancestry individuals EFO_0007990 N/A Associate Neutrophil percentage of white cells rs55799208-A of NONHSAT076891.2 is significantly associated with the neutrophil percentage of white cells by using GWAS analysis in 171,542 european ancestry individuals(p-value = 3E-25 ;OR = 0.3710271). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001052 27863252 NONHSAT076891.2 rs55799208 A N/A 171,748 european ancestry individuals EFO_0007993 N/A Associate Lymphocyte percentage of white cells rs55799208-A of NONHSAT076891.2 is significantly associated with the lymphocyte percentage of white cells by using GWAS analysis in 171,748 european ancestry individuals(p-value = 3E-20 ;OR = 0.3287534). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002555 26053186 NONHSAT188187.1 rs6714205 ? N/A 362 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//438 european ancestry current smoker individuals//449 latino current smoker individuals//704 japanese ancestry current smoker individuals EFO_0001071 in smokers Associate 3-hydroxypropylmercapturic acid levels in smokers rs6714205-? of NONHSAT188187.1 is significantly associated with the 3-hydroxypropylmercapturic acid levels in smokers by using GWAS analysis in 362 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//438 european ancestry current smoker individuals//449 latino current smoker individuals//704 japanese ancestry current smoker individuals(p-value = 2E-7 ;OR = 0.3626). 0.4 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. NCRV0000000573 22197929 NONHSAT174827.1 rs3803800 A N/A 1,434 han chinese ancestry cases//4,270 han chinese ancestry controls; 2,703 han chinese ancestry cases//3,464 han chinese ancestry controls EFO_0004194 N/A Associate Iga nephropathy rs3803800-A of NONHSAT174827.1 is significantly associated with the iga nephropathy by using GWAS analysis in 1,434 han chinese ancestry cases//4,270 han chinese ancestry controls; 2,703 han chinese ancestry cases//3,464 han chinese ancestry controls(p-value = 9E-11 ;OR = 1.21). 0.4 A genome-wide association study in Han Chinese identifies multiple susceptibility loci for IgA nephropathy. NCRV0000000786 27863252 NONHSAT180208.1 rs143558304 TA N/A 164,339 european ancestry individuals EFO_0007985 N/A Associate Plateletcrit rs143558304-TA of NONHSAT180208.1 is significantly associated with the plateletcrit by using GWAS analysis in 164,339 european ancestry individuals(p-value = 7E-22 ;OR = 0.1365312). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000741 27863252 NONHSAT076891.2 rs55799208 A N/A 169,545 european ancestry individuals EFO_0007997 N/A Associate Granulocyte percentage of myeloid white cells rs55799208-A of NONHSAT076891.2 is significantly associated with the granulocyte percentage of myeloid white cells by using GWAS analysis in 169,545 european ancestry individuals(p-value = 1E-20 ;OR = 0.3327092). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002433 28240269 NONHSAT003779.2 rs11209026 A N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008181 N/A Associate Blood protein levels rs11209026-A of NONHSAT003779.2 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 3E-16 ;OR = 0.7416). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. NCRV0000001954 23251661 NONHSAT155419.1 rs28461806 G N/A 815 hispanic children from 263 families EFO_0004749 N/A Associate Obesity-related traits rs28461806-G of NONHSAT155419.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 5E-8 ;OR = 0.05). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. NCRV0000002974 26460308 NONHSAT207886.1 rs7765004 C N/A 852 european ancestry cases; 685 european ancestry cases EFO_0000403 treated with immunochemotherapy Associate Event free survival in diffuse large b-cell lymphoma treated with immunochemotherapy rs7765004-C of NONHSAT207886.1 is significantly associated with the event free survival in diffuse large b-cell lymphoma treated with immunochemotherapy by using GWAS analysis in 852 european ancestry cases; 685 european ancestry cases(p-value = 7E-7 ;OR = 1.38). 0.4 Genome-Wide Association Study of Event-Free Survival in Diffuse Large B-Cell Lymphoma Treated With Immunochemotherapy. NCRV0000000204 26192919 NONHSAT216433.1 rs6651252 A N/A 12,882 european ancestry cases//21,770 european ancestry controls; 25,273 european ancestry cases//26,715 european ancestry controls//548 iranian ancestry cases//342 iranian ancestry control//1,423 indian ancestry cases//990 indian ancestry controls//2,824 east asian ancestry cases//3,719 east asian ancestry controls EFO_0003767 N/A Associate Inflammatory bowel disease rs6651252-A of NONHSAT216433.1 is significantly associated with the inflammatory bowel disease by using GWAS analysis in 12,882 european ancestry cases//21,770 european ancestry controls; 25,273 european ancestry cases//26,715 european ancestry controls//548 iranian ancestry cases//342 iranian ancestry control//1,423 indian ancestry cases//990 indian ancestry controls//2,824 east asian ancestry cases//3,719 east asian ancestry controls(p-value = 9E-10 ;OR = 1.095103). 0.4 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. NCRV0000000687 28540026 NONHSAT208980.1 rs1131275 C N/A up to 6,197 european ancestry asd cases//up to 7,377 european ancestry controls//up to 1,190 asd cases//up to 1,190 controls EFO_0003756 N/A Associate Autism spectrum disorder rs1131275-C of NONHSAT208980.1 is significantly associated with the autism spectrum disorder by using GWAS analysis in up to 6,197 european ancestry asd cases//up to 7,377 european ancestry controls//up to 1,190 asd cases//up to 1,190 controls(p-value = 2E-9 ;OR = 1.07). 0.4 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. NCRV0000003361 27863252 NONHSAT188919.1 rs6125961 A N/A 170,721 european ancestry individuals EFO_0005091 N/A Associate Monocyte count rs6125961-A of NONHSAT188919.1 is significantly associated with the monocyte count by using GWAS analysis in 170,721 european ancestry individuals(p-value = 2E-57 ;OR = 0.0715748). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000442 23031429 NONHSAT179794.1 rs445925 G N/A 1,720 european ancestry monozygotic twins EFO_0004732 N/A Associate Apolipoprotein levels rs445925-G of NONHSAT179794.1 is significantly associated with the apolipoprotein levels by using GWAS analysis in 1,720 european ancestry monozygotic twins(p-value = 2E-14 ;OR = 0.149). 0.4 A genome-wide association study of monozygotic twin-pairs suggests a locus related to variability of serum high-density lipoprotein cholesterol. NCRV0000001006 28360221 NONHSAT216854.1 rs12677356 T N/A 45,889 european ancestry individuals//up to 8,765 asian indian ancestry individuals//up to 7,215 african ancestry individuals; 17,637 european ancestry individuals EFO_0007967 N/A Associate Blood osmolality (transformed sodium) rs12677356-T of NONHSAT216854.1 is significantly associated with the blood osmolality (transformed sodium) by using GWAS analysis in 45,889 european ancestry individuals//up to 8,765 asian indian ancestry individuals//up to 7,215 african ancestry individuals; 17,637 european ancestry individuals(p-value = 5E-6 ;OR = 0.08). 0.4 NFAT5 and SLC4A10 Loci Associate with Plasma Osmolality. NCRV0000003260 28441456 NONHSAT224225.1 rs143386295 T N/A 2,187 european ancestry individuals EFO_0007845 N/A Associate Facial morphology (factor 15//philtrum width) rs143386295-T of NONHSAT224225.1 is significantly associated with the facial morphology (factor 15//philtrum width) by using GWAS analysis in 2,187 european ancestry individuals(p-value = 1E-6 ;OR = 0.7395). 0.4 Genome-wide association study of facial morphology reveals novel associations with FREM1 and PARK2. NCRV0000003380 19654303 NONHSAT170724.1 rs748404 ? N/A 1,952 european ancestry cases//1,438 european ancestry controls; 2,465 european ancestry cases//3,005 european ancestry controls//3,143 individuals//3,762 individuals EFO_0001071 N/A Associate Lung cancer rs748404-? of NONHSAT170724.1 is significantly associated with the lung cancer by using GWAS analysis in 1,952 european ancestry cases//1,438 european ancestry controls; 2,465 european ancestry cases//3,005 european ancestry controls//3,143 individuals//3,762 individuals(p-value = 1E-6 ;OR = 1.15). 0.4 Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association study. NCRV0000001945 27918534 NONHSAT053492.2 rs2123685 T N/A 7,399 european ancestry women//7,381 european ancestry men//2,163 african american women//1,304 african american men EFO_0004766 N/A Associate Subcutaneous adipose tissue rs2123685-T of NONHSAT053492.2 is significantly associated with the subcutaneous adipose tissue by using GWAS analysis in 7,399 european ancestry women//7,381 european ancestry men//2,163 african american women//1,304 african american men(p-value = 3E-8 ;OR = 5.52). 0.4 Multiethnic genome-wide meta-analysis of ectopic fat depots identifies loci associated with adipocyte development and differentiation. NCRV0000003444 28739976 NONHSAT189066.1 rs6015450 G N/A 150,134 european ancestry individuals; 87,359 european ancestry individuals//140,886 european and unknown ancestry individuals EFO_0000319 N/A Associate Systolic blood pressure rs6015450-G of NONHSAT189066.1 is significantly associated with the systolic blood pressure by using GWAS analysis in 150,134 european ancestry individuals; 87,359 european ancestry individuals//140,886 european and unknown ancestry individuals(p-value = 4E-13 ;OR = 0.802). 0.4 Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.LID - HYPERTENSIONAHA.117.09438 [pii]LID - 10.1161/HYPERTENSIONAHA.117.09438 [doi]AB - Elevated blood pressure NCRV0000002347 28443625 NONHSAT141480.2 rs2650492 A N/A 98,173 european ancestry women//64,373 european ancestry men//5,829 european ancestry individuals//10,500 african american/afro-caribbean ancestry women//2,706 african american/afro-caribbean ancestry men//1,030 indian asian ancestry women//7,648 indian asian ancestry men//1,793 filipino ancestry women//2,944 hispanic/latino ancestry women//1,764 hispanic/latino ancestry men; 21,496 european ancestry women//24,385 european ancestry men//118,364 european ancestry individuals//2,326 african american/afro-caribbean ancestry women//855 african american/afro-caribbean ancestry men EFO_0001073 adjusted for smoking behaviour Associate Bmi (adjusted for smoking behaviour) rs2650492-A of NONHSAT141480.2 is significantly associated with the bmi (adjusted for smoking behaviour) by using GWAS analysis in 98,173 european ancestry women//64,373 european ancestry men//5,829 european ancestry individuals//10,500 african american/afro-caribbean ancestry women//2,706 african american/afro-caribbean ancestry men//1,030 indian asian ancestry women//7,648 indian asian ancestry men//1,793 filipino ancestry women//2,944 hispanic/latino ancestry women//1,764 hispanic/latino ancestry men; 21,496 european ancestry women//24,385 european ancestry men//118,364 european ancestry individuals//2,326 african american/afro-caribbean ancestry women//855 african american/afro-caribbean ancestry men(p-value = 3E-8 ;OR = 0.0225). 0.4 Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. NCRV0000001125 28739976 NONHSAT028404.2 rs73099903 T N/A 150,134 european ancestry individuals; 87,359 european ancestry individuals//140,886 european and unknown ancestry individuals EFO_0000319 N/A Associate Systolic blood pressure rs73099903-T of NONHSAT028404.2 is significantly associated with the systolic blood pressure by using GWAS analysis in 150,134 european ancestry individuals; 87,359 european ancestry individuals//140,886 european and unknown ancestry individuals(p-value = 2E-10 ;OR = 0.515). 0.4 Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.LID - HYPERTENSIONAHA.117.09438 [pii]LID - 10.1161/HYPERTENSIONAHA.117.09438 [doi]AB - Elevated blood pressure NCRV0000003273 25231870 NONHSAT170398.1 rs7141210 T N/A up to 182,413 european ancestry females EFO_0004703 N/A Associate Menarche (age at onset) rs7141210-T of NONHSAT170398.1 is significantly associated with the menarche (age at onset) by using GWAS analysis in up to 182,413 european ancestry females(p-value = 6E-9 ;OR = 0.03). 0.4 Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. NCRV0000000134 27863252 NONHSAT173445.1 rs12447180 C N/A 171,996 european ancestry individuals EFO_0007992 N/A Associate Basophil percentage of white cells rs12447180-C of NONHSAT173445.1 is significantly associated with the basophil percentage of white cells by using GWAS analysis in 171,996 european ancestry individuals(p-value = 1E-13 ;OR = 0.02767987). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000027 27863252 NONHSAT173445.1 rs12447180 C N/A 170,223 european ancestry individuals EFO_0007995 N/A Associate Basophil percentage of granulocytes rs12447180-C of NONHSAT173445.1 is significantly associated with the basophil percentage of granulocytes by using GWAS analysis in 170,223 european ancestry individuals(p-value = 2E-12 ;OR = 0.02636175). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000553 24941225 NONHSAT067101.2 rs1047781 ? N/A 1,999 chinese ancestry individuals EFO_0005842 N/A Associate Elevated serum carcinoembryonic antigen levels rs1047781-? of NONHSAT067101.2 is significantly associated with the elevated serum carcinoembryonic antigen levels by using GWAS analysis in 1,999 chinese ancestry individuals(p-value = 1E-56 ;OR = ?). 0.4 Genetic variations affecting serum carcinoembryonic antigen levels and status of regional lymph nodes in patients with sporadic colorectal cancer from Southern China. NCRV0000003872 28212542 NONHSAT189594.1 rs1885120 C N/A 4,842 european ancestry cases//286,565 european ancestry controls; 1,804 european ancestry cases//1,026 european ancestry controls EFO_0000756 N/A Associate Melanoma rs1885120-C of NONHSAT189594.1 is significantly associated with the melanoma by using GWAS analysis in 4,842 european ancestry cases//286,565 european ancestry controls; 1,804 european ancestry cases//1,026 european ancestry controls(p-value = 2E-18 ;OR = 1.55). 0.4 Two-stage genome-wide association study identifies a novel susceptibility locus associated with melanoma. NCRV0000002665 28107422 NONHSAT183488.1 rs715 ? N/A 91,953 european ancestry individuals (imputed to hapmap); EFO_0004623 N/A Associate Fibrinogen levels rs715-? of NONHSAT183488.1 is significantly associated with the fibrinogen levels by using GWAS analysis in 91,953 european ancestry individuals (imputed to hapmap); (p-value = 9E-14 ;OR = 0.0092). 0.4 Comparison of HapMap and 1000 Genomes Reference Panels in a Large-Scale Genome-Wide Association Study. NCRV0000003549 26621817 NONHSAT159414.1 rs606460 G N/A 5,725 european ancestry colorectal carcinoma cases//2,212 european ancestry endometrial carcinoma cases//13,396 european ancestry controls EFO_0005842 N/A Associate Colorectal or endometrial cancer rs606460-G of NONHSAT159414.1 is significantly associated with the colorectal or endometrial cancer by using GWAS analysis in 5,725 european ancestry colorectal carcinoma cases//2,212 european ancestry endometrial carcinoma cases//13,396 european ancestry controls(p-value = 4E-6 ;OR = 1.11). 0.4 Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1. NCRV0000002821 23740937 NONHSAT018763.2 rs1355223 ? N/A up to 2,761 european ancestry systemic sclerosis cases//769 european ancestry systemic lupus erythematosus cases//7,381 european ancestry controls; up to 1,578 european ancestry systemic sclerosis cases//1,727 european ancestry systemic lupus erythematosus cases//6,893 european ancestry controls EFO_0002690 N/A Associate Systemic lupus erythematosus and systemic sclerosis rs1355223-? of NONHSAT018763.2 is significantly associated with the systemic lupus erythematosus and systemic sclerosis by using GWAS analysis in up to 2,761 european ancestry systemic sclerosis cases//769 european ancestry systemic lupus erythematosus cases//7,381 european ancestry controls; up to 1,578 european ancestry systemic sclerosis cases//1,727 european ancestry systemic lupus erythematosus cases//6,893 european ancestry controls(p-value = 4E-6 ;OR = 1.12). 0.4 A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci. NCRV0000002633 28604730 NONHSAT068045.2 rs639436 G N/A 11,273 european ancestry cases// 55,483 european ancestry controls EFO_0000571 N/A Associate Lung adenocarcinoma rs639436-G of NONHSAT068045.2 is significantly associated with the lung adenocarcinoma by using GWAS analysis in 11,273 european ancestry cases// 55,483 european ancestry controls(p-value = 4E-6 ;OR = 1.1027007). 0.4 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. NCRV0000000238 27749845 NONHSAT202221.1 rs76122614 G N/A 2,506 european ancestry cases//135 cases//5,984 european ancestry controls//601 controls EFO_1001931 N/A Associate Oropharynx cancer rs76122614-G of NONHSAT202221.1 is significantly associated with the oropharynx cancer by using GWAS analysis in 2,506 european ancestry cases//135 cases//5,984 european ancestry controls//601 controls(p-value = 4E-6 ;OR = 1.206127). 0.4 Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer. NCRV0000000958 23770605 NONHSAT157304.1 rs4406737 G N/A 2,179 european ancestry cases//6,221 european ancestry controls; 1,709 european ancestry cases//6,318 european ancestry controls EFO_0000095 N/A Associate Chronic lymphocytic leukemia rs4406737-G of NONHSAT157304.1 is significantly associated with the chronic lymphocytic leukemia by using GWAS analysis in 2,179 european ancestry cases//6,221 european ancestry controls; 1,709 european ancestry cases//6,318 european ancestry controls(p-value = 1E-14 ;OR = 1.27). 0.4 Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia. NCRV0000001022 19084217 NONHSAT214557.1 rs29880 ? N/A 459 european ancestry twin pairs EFO_0006334 N/A Associate Iron status biomarkers rs29880-? of NONHSAT214557.1 is significantly associated with the iron status biomarkers by using GWAS analysis in 459 european ancestry twin pairs(p-value = 7E-6 ;OR = ?). 0.4 Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels. NCRV0000001449 27989323 NONHSAT130792.2 rs117500816 T N/A 3,631 finnish ancestry individuals EFO_0005140 N/A Associate Ctack levels rs117500816-T of NONHSAT130792.2 is significantly associated with the ctack levels by using GWAS analysis in 3,631 finnish ancestry individuals(p-value = 1E-6 ;OR = 0.2205). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. NCRV0000002506 20385819 NONHSAT060783.2 rs2230199 C N/A 2,157 european ancestry cases//1,150 european ancestry controls; 7,892 european ancestry cases//5,998 european ancestry controls//678 japanese ancestry cases//336 japanese ancestry controls EFO_0001365 N/A Associate Age-related macular degeneration rs2230199-C of NONHSAT060783.2 is significantly associated with the age-related macular degeneration by using GWAS analysis in 2,157 european ancestry cases//1,150 european ancestry controls; 7,892 european ancestry cases//5,998 european ancestry controls//678 japanese ancestry cases//336 japanese ancestry controls(p-value = 1E-10 ;OR = 1.74). 0.4 Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration. NCRV0000002888 27015805 NONHSAT087071.2 rs137115 ? N/A 1,339 middle-aged british cases//40,934 middle-aged british controls EFO_0007796 N/A Associate Parental extreme longevity (95 years and older) rs137115-? of NONHSAT087071.2 is significantly associated with the parental extreme longevity (95 years and older) by using GWAS analysis in 1,339 middle-aged british cases//40,934 middle-aged british controls(p-value = 8E-6 ;OR = 0.00475). 0.4 Human longevity is influenced by many genetic variants: evidence from 75,000 UK Biobank participants. NCRV0000000887 25514360 NONHSAT195506.1 rs3773445 ? N/A up to 4,108 european american cases EFO_0000341 N/A Associate Airway responsiveness in chronic obstructive pulmonary disease rs3773445-? of NONHSAT195506.1 is significantly associated with the airway responsiveness in chronic obstructive pulmonary disease by using GWAS analysis in up to 4,108 european american cases(p-value = 3E-6 ;OR = 1.2658228). 0.4 Genome-Wide Association Study Identification of Novel Loci Associated with Airway Responsiveness in Chronic Obstructive Pulmonary Disease. NCRV0000001631 28334899 NONHSAT185468.1 rs2030746 T N/A 32,285 east asian ancestry individuals//173,082 european ancestry individuals; 8,478 chinese ancestry individuals EFO_0000319 N/A Associate Ldl cholesterol levels rs2030746-T of NONHSAT185468.1 is significantly associated with the ldl cholesterol levels by using GWAS analysis in 32,285 east asian ancestry individuals//173,082 european ancestry individuals; 8,478 chinese ancestry individuals(p-value = 8E-9 ;OR = 0.0214). 0.4 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels. NCRV0000001373 29228715 NONHSAT208751.1 rs742223 ? N/A 978 austrian ancestry colorectal cancer cases//636 austrian ancestry advanced colorectal adenoma cases//4,294 european ancestry controls EFO_0005842 N/A Associate Colorectal cancer rs742223-? of NONHSAT208751.1 is significantly associated with the colorectal cancer by using GWAS analysis in 978 austrian ancestry colorectal cancer cases//636 austrian ancestry advanced colorectal adenoma cases//4,294 european ancestry controls(p-value = 5E-7 ;OR = 1.6647245). 0.4 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas. NCRV0000000459 28334935 NONHSAT206984.1 rs76858924 C N/A 12,375 hispanic/latino individuals EFO_0004459 N/A Associate Iron status biomarkers (ferritin levels) rs76858924-C of NONHSAT206984.1 is significantly associated with the iron status biomarkers (ferritin levels) by using GWAS analysis in 12,375 hispanic/latino individuals(p-value = 2E-7 ;OR = 0.065). 0.4 Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation? NCRV0000002340 27989323 NONHSAT221797.1 rs143982833 TCTC N/A 3,631 finnish ancestry individuals EFO_0005140 N/A Associate Ctack levels rs143982833-TCTC of NONHSAT221797.1 is significantly associated with the ctack levels by using GWAS analysis in 3,631 finnish ancestry individuals(p-value = 2E-6 ;OR = 0.4). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. NCRV0000000114 22829776 NONHSAT054532.2 rs2411984 A N/A 21,791 european ancestry individuals; 8,175 european ancestry individuals EFO_0004696 N/A Associate Sex hormone-binding globulin levels rs2411984-A of NONHSAT054532.2 is significantly associated with the sex hormone-binding globulin levels by using GWAS analysis in 21,791 european ancestry individuals; 8,175 european ancestry individuals(p-value = 2E-10 ;OR = 0.034). 0.4 A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation. NCRV0000001454 27863252 NONHSAT119344.2 rs2537594 A N/A 172,332 european ancestry individuals EFO_0004527 N/A Associate Mean corpuscular hemoglobin rs2537594-A of NONHSAT119344.2 is significantly associated with the mean corpuscular hemoglobin by using GWAS analysis in 172,332 european ancestry individuals(p-value = 3E-10 ;OR = 0.02248585). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003237 26192919 NONHSAT210327.1 rs71559680 A N/A 5,956 european ancestry cases//14,927 european ancestry controls; 14,594 european ancestry cases//26,715 european ancestry controls//151 iranian ancestry cases//342 iranian ancestry controls//184 indian ancestry cases//990 indian ancestry controls//1,690 east asian ancestry cases//3,719 east asian ancestry controls EFO_0000384 N/A Associate Crohn's disease rs71559680-A of NONHSAT210327.1 is significantly associated with the crohn's disease by using GWAS analysis in 5,956 european ancestry cases//14,927 european ancestry controls; 14,594 european ancestry cases//26,715 european ancestry controls//151 iranian ancestry cases//342 iranian ancestry controls//184 indian ancestry cases//990 indian ancestry controls//1,690 east asian ancestry cases//3,719 east asian ancestry controls(p-value = 2E-15 ;OR = 1.1003201). 0.4 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. NCRV0000002850 22703881 NONHSAT200819.1 rs2289252 C N/A 9,240 european ancestry individuals; 2611 european ancestry individuals EFO_0000378 N/A Associate Activated partial thromboplastin time rs2289252-C of NONHSAT200819.1 is significantly associated with the activated partial thromboplastin time by using GWAS analysis in 9,240 european ancestry individuals; 2611 european ancestry individuals(p-value = 6E-43 ;OR = 0.483). 0.4 Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease. NCRV0000002980 28090653 NONHSAT071691.2 rs146058206 A N/A up to 488 european ancestry cases//up to 111 african american cases//up to 60 hispanic cases//up to 56 other ancestry cases EFO_0000220 N/A Associate Alanine aminotransferase (alt) levels after remission induction therapy in actute lymphoblastic leukemia (all) rs146058206-A of NONHSAT071691.2 is significantly associated with the alanine aminotransferase (alt) levels after remission induction therapy in actute lymphoblastic leukemia (all) by using GWAS analysis in up to 488 european ancestry cases//up to 111 african american cases//up to 60 hispanic cases//up to 56 other ancestry cases(p-value = 2E-6 ;OR = 9.02). 0.4 Genome-Wide Study Links PNPLA3 Variant With Elevated Hepatic Transaminase After Acute Lymphoblastic Leukemia Therapy. NCRV0000002723 22504420 NONHSAT174674.1 rs10048146 A N/A up to 32,961 european and east asian ancestry individuals; up to 50,933 european and east asian ancestry individuals EFO_0003923 N/A Associate Bone mineral density rs10048146-A of NONHSAT174674.1 is significantly associated with the bone mineral density by using GWAS analysis in up to 32,961 european and east asian ancestry individuals; up to 50,933 european and east asian ancestry individuals(p-value = 1E-14 ;OR = 0.05). 0.4 Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. NCRV0000002513 26908601 NONHSAT196718.1 rs710446 ? N/A 6,135 european ancestry cases//252,827 european ancestry controls HP_0002140 N/A Associate Thrombosis rs710446-? of NONHSAT196718.1 is significantly associated with the thrombosis by using GWAS analysis in 6,135 european ancestry cases//252,827 european ancestry controls(p-value = 2E-6 ;OR = 0.089). 0.4 Genome-wide association analysis of self-reported events in 6135 individuals and 252 827 controls identifies 8 loci associated with thrombosis. NCRV0000002142 27863252 NONHSAT051755.2 rs3760047 A N/A 172,851 european ancestry individuals EFO_0004527 N/A Associate Mean corpuscular hemoglobin concentration rs3760047-A of NONHSAT051755.2 is significantly associated with the mean corpuscular hemoglobin concentration by using GWAS analysis in 172,851 european ancestry individuals(p-value = 6E-69 ;OR = 0.077834). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001158 25673412 NONHSAT195785.1 rs11242 T N/A up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women EFO_0005093 adjusted for BMI Associate Hip circumference adjusted for bmi rs11242-T of NONHSAT195785.1 is significantly associated with the hip circumference adjusted for bmi by using GWAS analysis in up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women(p-value = 1E-11 ;OR = 0.035). 0.4 New genetic loci link adipose and insulin biology to body fat distribution. NCRV0000000356 20303064 NONHSAT196718.1 rs710446 G N/A 1,431 european ancestry individuals EFO_0000378 N/A Associate Activated partial thromboplastin time rs710446-G of NONHSAT196718.1 is significantly associated with the activated partial thromboplastin time by using GWAS analysis in 1,431 european ancestry individuals(p-value = 1E-21 ;OR = 0.36). 0.4 Common variants of large effect in F12, KNG1, and HRG are associated with activated partial thromboplastin time. NCRV0000002299 27494321 NONHSAT185367.1 rs62158211 G N/A 127,573 british individuals; 47,180 individuals EFO_0008568 N/A Associate Sleep duration rs62158211-G of NONHSAT185367.1 is significantly associated with the sleep duration by using GWAS analysis in 127,573 british individuals; 47,180 individuals(p-value = 2E-23 ;OR = 0.039). 0.4 Genome-Wide Association Analyses in 128,266 Individuals Identifies New Morningness and Sleep Duration Loci. NCRV0000002558 23273568 NONHSAT207781.1 rs742108 T N/A 1,656 han chinese ancestry cases//3,394 han chinese ancestry controls; 3,256 han chinese ancestry cases//5,667 han chinese ancestry controls//453 thai ancestry cases//963 thai ancestry controls EFO_0002690 N/A Associate Systemic lupus erythematosus rs742108-T of NONHSAT207781.1 is significantly associated with the systemic lupus erythematosus by using GWAS analysis in 1,656 han chinese ancestry cases//3,394 han chinese ancestry controls; 3,256 han chinese ancestry cases//5,667 han chinese ancestry controls//453 thai ancestry cases//963 thai ancestry controls(p-value = 4E-6 ;OR = 1.24). 0.4 Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians. NCRV0000002875 28360221 NONHSAT198086.1 rs753628 A N/A 45,889 european ancestry individuals//up to 8,765 asian indian ancestry individuals//up to 7,215 african ancestry individuals; 17,637 european ancestry individuals EFO_0007967 N/A Associate Blood osmolality (transformed sodium) rs753628-A of NONHSAT198086.1 is significantly associated with the blood osmolality (transformed sodium) by using GWAS analysis in 45,889 european ancestry individuals//up to 8,765 asian indian ancestry individuals//up to 7,215 african ancestry individuals; 17,637 european ancestry individuals(p-value = 3E-6 ;OR = 0.04). 0.4 NFAT5 and SLC4A10 Loci Associate with Plasma Osmolality. NCRV0000000215 28604730 NONHSAT172450.1 rs145474218 C N/A 2,664 european ancestry cases// 21,444 european ancestry controls EFO_0000702 N/A Associate Small cell lung carcinoma rs145474218-C of NONHSAT172450.1 is significantly associated with the small cell lung carcinoma by using GWAS analysis in 2,664 european ancestry cases// 21,444 european ancestry controls(p-value = 3E-6 ;OR = 1.9609474). 0.4 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. NCRV0000000524 26634245 NONHSAT047580.2 rs4243084 C N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs4243084-C of NONHSAT047580.2 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 8E-14 ;OR = 0.07). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000003938 21323541 NONHSAT207117.1 rs652888 C N/A 556 european ancestry cases//2,338 european ancestry controls EFO_0004254 N/A Associate Idiopathic membranous nephropathy rs652888-C of NONHSAT207117.1 is significantly associated with the idiopathic membranous nephropathy by using GWAS analysis in 556 european ancestry cases//2,338 european ancestry controls(p-value = 3E-46 ;OR = 2.71). 0.4 Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy. NCRV0000002744 22923026 NONHSAT217969.1 rs1512268 T N/A 1,033 japanese ancestry cases//1,042 japanese ancestry controls//1,043 latino cases//1,057 latino controls; 1,583 japanese ancestry cases//3,386 japanese ancestry controls//1,854 european ancestry cases//3,748 european ancestry controls EFO_0001663 N/A Associate Prostate cancer rs1512268-T of NONHSAT217969.1 is significantly associated with the prostate cancer by using GWAS analysis in 1,033 japanese ancestry cases//1,042 japanese ancestry controls//1,043 latino cases//1,057 latino controls; 1,583 japanese ancestry cases//3,386 japanese ancestry controls//1,854 european ancestry cases//3,748 european ancestry controls(p-value = 5E-6 ;OR = 1.35). 0.4 Evaluating genetic risk for prostate cancer among Japanese and Latinos. NCRV0000002853 26634245 NONHSAT205857.1 rs115559601 T N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs115559601-T of NONHSAT205857.1 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 2E-6 ;OR = 0.102). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000001127 27863252 NONHSAT081029.2 rs8126001 T N/A 172,433 european ancestry individuals EFO_0004526 N/A Associate Mean corpuscular volume rs8126001-T of NONHSAT081029.2 is significantly associated with the mean corpuscular volume by using GWAS analysis in 172,433 european ancestry individuals(p-value = 8E-9 ;OR = 0.02044855). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001492 23770605 NONHSAT159793.1 rs735665 A N/A 2,179 european ancestry cases//6,221 european ancestry controls; 1,709 european ancestry cases//6,318 european ancestry controls EFO_0000095 N/A Associate Chronic lymphocytic leukemia rs735665-A of NONHSAT159793.1 is significantly associated with the chronic lymphocytic leukemia by using GWAS analysis in 2,179 european ancestry cases//6,221 european ancestry controls; 1,709 european ancestry cases//6,318 european ancestry controls(p-value = 4E-39 ;OR = 1.62). 0.4 Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia. NCRV0000000080 26776603 NONHSAT207623.1 rs284511 C N/A 31 japanese ancestry mild cases//282 japanese ancestry moderate cases//131 japanese ancestry severe cases EFO_0000685 N/A Associate Response to anti-tnf therapy in rheumatoid arthritis rs284511-C of NONHSAT207623.1 is significantly associated with the response to anti-tnf therapy in rheumatoid arthritis by using GWAS analysis in 31 japanese ancestry mild cases//282 japanese ancestry moderate cases//131 japanese ancestry severe cases(p-value = 3E-8 ;OR = 0.41). 0.4 A longitudinal genome-wide association study of anti-tumor necrosis factor response among Japanese patients with rheumatoid arthritis. NCRV0000002688 23128233 NONHSAT191238.1 rs2823286 G N/A 12,924 european ancestry cases//21,442 european ancestry controls; 25,683 european ancestry cases//17,015 european ancestry controls EFO_0003767 N/A Associate Inflammatory bowel disease rs2823286-G of NONHSAT191238.1 is significantly associated with the inflammatory bowel disease by using GWAS analysis in 12,924 european ancestry cases//21,442 european ancestry controls; 25,683 european ancestry cases//17,015 european ancestry controls(p-value = 9E-30 ;OR = 1.157). 0.4 Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. NCRV0000000844 27863252 NONHSAT168300.1 rs34332679 GA N/A 172,275 european ancestry individuals EFO_0004842 N/A Associate Eosinophil counts rs34332679-GA of NONHSAT168300.1 is significantly associated with the eosinophil counts by using GWAS analysis in 172,275 european ancestry individuals(p-value = 9E-14 ;OR = 0.02791439). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002252 28247064 NONHSAT192614.1 rs112879682 A N/A 3,146 individuals EFO_0000249 N/A Associate Cerebrospinal t-tau levels rs112879682-A of NONHSAT192614.1 is significantly associated with the cerebrospinal t-tau levels by using GWAS analysis in 3,146 individuals(p-value = 7E-6 ;OR = 0.087). 0.4 Genome-wide association study identifies four novel loci associated with Alzheimer's endophenotypes and disease modifiers. NCRV0000001804 26634245 NONHSAT214028.1 rs73157032 A N/A 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases EFO_0003892 N/A Associate Post bronchodilator fev1 in copd rs73157032-A of NONHSAT214028.1 is significantly associated with the post bronchodilator fev1 in copd by using GWAS analysis in 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases(p-value = 4E-6 ;OR = 1.182). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000003146 27225129 NONHSAT195730.1 rs3172494 T N/A 405,072 european ancestry individuals EFO_0004784 N/A Associate Educational attainment (years of education) rs3172494-T of NONHSAT195730.1 is significantly associated with the educational attainment (years of education) by using GWAS analysis in 405,072 european ancestry individuals(p-value = 9E-11 ;OR = 0.023141198). 0.4 Genome-wide association study identifies 74 loci associated with educational attainment. NCRV0000003387 28654678 NONHSAT151283.1 rs75251726 ? N/A 389 east asian ancestry individuals//189 south asian ancestry individuals//492 european ancestry individuals//467 sub-saharan african ancestry individuals//59 african american individuals//157 hispanic/latino individuals EFO_0000769 N/A Associate Epstein-barr virus copy number in lymphoblastoid cell lines rs75251726-? of NONHSAT151283.1 is significantly associated with the epstein-barr virus copy number in lymphoblastoid cell lines by using GWAS analysis in 389 east asian ancestry individuals//189 south asian ancestry individuals//492 european ancestry individuals//467 sub-saharan african ancestry individuals//59 african american individuals//157 hispanic/latino individuals(p-value = 9E-6 ;OR = ?). 0.4 Genetic factors affecting EBV copy number in lymphoblastoid cell lines derived from the 1000 Genome Project samples. NCRV0000000239 28247064 NONHSAT181722.1 rs4267554 G N/A 3,146 individuals EFO_0000249 N/A Associate Cerebrospinal p-tau181p levels rs4267554-G of NONHSAT181722.1 is significantly associated with the cerebrospinal p-tau181p levels by using GWAS analysis in 3,146 individuals(p-value = 2E-6 ;OR = 0.042). 0.4 Genome-wide association study identifies four novel loci associated with Alzheimer's endophenotypes and disease modifiers. NCRV0000003070 29228715 NONHSAT174160.1 rs9929215 ? N/A 978 austrian ancestry colorectal cancer cases//636 austrian ancestry advanced colorectal adenoma cases//4,294 european ancestry controls EFO_0005842 N/A Associate Colorectal cancer rs9929215-? of NONHSAT174160.1 is significantly associated with the colorectal cancer by using GWAS analysis in 978 austrian ancestry colorectal cancer cases//636 austrian ancestry advanced colorectal adenoma cases//4,294 european ancestry controls(p-value = 3E-6 ;OR = 1.767). 0.4 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas. NCRV0000001886 23432519 NONHSAT035258.2 rs9324268 A N/A 263 european ancestry individuals; EFO_0005199 N/A Associate Renal transplant outcome rs9324268-A of NONHSAT035258.2 is significantly associated with the renal transplant outcome by using GWAS analysis in 263 european ancestry individuals; (p-value = 2E-6 ;OR = 0.1738). 0.4 A genome-wide association study of recipient genotype and medium-term kidney allograft function. NCRV0000002769 23459443 NONHSAT149467.1 rs17450029 T N/A 33,781 european ancestry individuals EFO_0004278 N/A Associate Qt interval (drug interaction) rs17450029-T of NONHSAT149467.1 is significantly associated with the qt interval (drug interaction) by using GWAS analysis in 33,781 european ancestry individuals(p-value = 3E-6 ;OR = ?). 0.4 Drug-gene interactions and the search for missing heritability: a cross-sectional pharmacogenomics study of the QT interval. NCRV0000002858 25500335 NONHSAT159177.1 rs174535 ? N/A 2,633 individuals EFO_0005110 N/A Associate Red blood cell fatty acid levels rs174535-? of NONHSAT159177.1 is significantly associated with the red blood cell fatty acid levels by using GWAS analysis in 2,633 individuals(p-value = 2E-12 ;OR = 0.138). 0.4 A genome-wide association study of saturated, mono- and polyunsaturated red blood cell fatty acids in the Framingham Heart Offspring Study. NCRV0000001708 20195266 NONHSAT186584.1 rs6735179 ? N/A 421 european ancestry//214 african american//and 103 cases GO_0097334 N/A Associate Response to antipsychotic treatment rs6735179-? of NONHSAT186584.1 is significantly associated with the response to antipsychotic treatment by using GWAS analysis in 421 european ancestry//214 african american//and 103 cases(p-value = 1E-7 ;OR = ?). 0.4 Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs. NCRV0000003870 26634245 NONHSAT151858.1 rs114304737 A N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs114304737-A of NONHSAT151858.1 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 3E-6 ;OR = 0.771). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000000028 24861553 NONHSAT186567.1 rs4854307 C N/A 82,438 east asian ancestry individuals//4,301 south east asian ancestry individuals; up to 47,352 east asian ancestry individuals EFO_0001073 N/A Associate Body mass index rs4854307-C of NONHSAT186567.1 is significantly associated with the body mass index by using GWAS analysis in 82,438 east asian ancestry individuals//4,301 south east asian ancestry individuals; up to 47,352 east asian ancestry individuals(p-value = 2E-6 ;OR = 0.0263). 0.4 Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index. NCRV0000000642 27863252 NONHSAT101836.2 rs9623 C N/A 171,529 european ancestry individuals EFO_0005192 N/A Associate Red cell distribution width rs9623-C of NONHSAT101836.2 is significantly associated with the red cell distribution width by using GWAS analysis in 171,529 european ancestry individuals(p-value = 2E-10 ;OR = 0.02258455). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001465 25493955 NONHSAT140921.2 rs12917707 T N/A up to 45,530 european ancestry individuals; up to 18,028 european ancestry individuals EFO_0006829 N/A Associate Kidney function decline traits rs12917707-T of NONHSAT140921.2 is significantly associated with the kidney function decline traits by using GWAS analysis in up to 45,530 european ancestry individuals; up to 18,028 european ancestry individuals(p-value = 2E-17 ;OR = 0.14). 0.4 Genome-wide association study of kidney function decline in individuals of European descent. NCRV0000001609 28240269 NONHSAT187296.1 rs6750059 C N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008310 N/A Associate Blood protein levels rs6750059-C of NONHSAT187296.1 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 1E-18 ;OR = 0.44). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. NCRV0000000502 28898252 NONHSAT159582.1 rs11224302 C N/A 88,355 european ancestry individuals,18,472 east asian ancestry individuals//7,572 south asian ancestry individuals//7,564 african american individuals; 33,238 european ancestry individuals// 2,366 east asian ancestry individuals//1,302 south asian ancestry individuals EFO_0001360 N/A Associate Glycated hemoglobin levels rs11224302-C of NONHSAT159582.1 is significantly associated with the glycated hemoglobin levels by using GWAS analysis in 88,355 european ancestry individuals,18,472 east asian ancestry individuals//7,572 south asian ancestry individuals//7,564 african american individuals; 33,238 european ancestry individuals// 2,366 east asian ancestry individuals//1,302 south asian ancestry individuals(p-value = 5E-7 ;OR = 0.0146). 0.4 Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis. NCRV0000001601 27157822 NONHSAT108757.2 rs1071816 ? N/A 38 european ancestry cases//1 case//5,170 european ancestry controls HP_0012235 Anti-thyroid drug Associate Anti-thyroid drug induced agranulocytosis rs1071816-? of NONHSAT108757.2 is significantly associated with the anti-thyroid drug induced agranulocytosis by using GWAS analysis in 38 european ancestry cases//1 case//5,170 european ancestry controls(p-value = 2E-9 ;OR = 5.27). 0.4 Genetic variants associated with antithyroid drug-induced agranulocytosis: a genome-wide association study in a European population. NCRV0000000621 26691988 NONHSAT200285.1 rs141853578 ? N/A 16,144 european ancestry cases//17,832 european ancestry controls; 473 asian ancestry cases//1,099 asian ancestry controls//52 african ancestry cases//361 african ancestry cases//254 other non-european ancestry cases//694 other non-european ancestry controls EFO_0001365 N/A Associate Advanced age-related macular degeneration rs141853578-? of NONHSAT200285.1 is significantly associated with the advanced age-related macular degeneration by using GWAS analysis in 16,144 european ancestry cases//17,832 european ancestry controls; 473 asian ancestry cases//1,099 asian ancestry controls//52 african ancestry cases//361 african ancestry cases//254 other non-european ancestry cases//694 other non-european ancestry controls(p-value = 6E-10 ;OR = 3.64). 0.4 A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants. NCRV0000001645 23419831 NONHSAT179793.1 rs429358 C N/A 555 european ancestry individuals EFO_0000249 N/A Associate Alzheimer's disease biomarkers rs429358-C of NONHSAT179793.1 is significantly associated with the alzheimer's disease biomarkers by using GWAS analysis in 555 european ancestry individuals(p-value = 5E-14 ;OR = ?). 0.4 APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study. NCRV0000000515 27863252 NONHSAT205599.1 rs972761 C N/A 173,039 european ancestry individuals EFO_0004348 N/A Associate Hematocrit rs972761-C of NONHSAT205599.1 is significantly associated with the hematocrit by using GWAS analysis in 173,039 european ancestry individuals(p-value = 2E-14 ;OR = 0.02745016). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002266 20228799 NONHSAT154192.1 rs10800309 A N/A 2,693 european ancestry cases//6,791 european ancestry controls; 2,009 european ancestry cases//1,580 european ancestry controls EFO_0000729 N/A Associate Ulcerative colitis rs10800309-A of NONHSAT154192.1 is significantly associated with the ulcerative colitis by using GWAS analysis in 2,693 european ancestry cases//6,791 european ancestry controls; 2,009 european ancestry cases//1,580 european ancestry controls(p-value = 3E-9 ;OR = 1.23). 0.4 Genome-wide association identifies multiple ulcerative colitis susceptibility loci. NCRV0000002304 19303062 NONHSAT148498.1 rs4654748 C N/A 2,934 european ancestry individuals; 686 european ancestry individuals EFO_0004621 N/A Associate Folate pathway vitamin levels rs4654748-C of NONHSAT148498.1 is significantly associated with the folate pathway vitamin levels by using GWAS analysis in 2,934 european ancestry individuals; 686 european ancestry individuals(p-value = 8E-18 ;OR = 1.45). 0.4 Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations. NCRV0000001897 25972035 NONHSAT053435.2 rs11078895 A N/A 4,558 korean ancestry individuals; 4,093 korean ancestry individuals EFO_0004838 N/A Associate Calcium levels rs11078895-A of NONHSAT053435.2 is significantly associated with the calcium levels by using GWAS analysis in 4,558 korean ancestry individuals; 4,093 korean ancestry individuals(p-value = 5E-6 ;OR = 0.00201). 0.4 Association of common variants in the calcium-sensing receptor gene with serum calcium levels in East Asians. NCRV0000002671 27182965 NONHSAT081010.2 rs41278232 ? N/A 60,098 european ancestry cases//113,323 european ancestry controls EFO_0007924 N/A Associate Tonsillectomy rs41278232-? of NONHSAT081010.2 is significantly associated with the tonsillectomy by using GWAS analysis in 60,098 european ancestry cases//113,323 european ancestry controls(p-value = 8E-9 ;OR = 1.078). 0.4 Detection and interpretation of shared genetic influences on 42 human traits. NCRV0000001210 17618284 NONHSAT216396.1 rs6983267 G N/A 930 european ancestry cases//960 european ancestry controls; 7,334 european ancestry cases//5,246 european ancestry controls EFO_0005842 N/A Associate Colorectal cancer rs6983267-G of NONHSAT216396.1 is significantly associated with the colorectal cancer by using GWAS analysis in 930 european ancestry cases//960 european ancestry controls; 7,334 european ancestry cases//5,246 european ancestry controls(p-value = 1E-14 ;OR = 1.27). 0.4 A genome-wide association scan of tag SNPs identifies a susceptibility variant for colorectal cancer at 8q24.21. NCRV0000000437 26634245 NONHSAT047597.2 rs1825082 A N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs1825082-A of NONHSAT047597.2 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 7E-7 ;OR = 0.047). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000002304 19744961 NONHSAT148498.1 rs4654748 ? N/A 3,305 european ancestry females//1,458 european ancestry males EFO_0004621 N/A Associate Folate pathway vitamin levels rs4654748-? of NONHSAT148498.1 is significantly associated with the folate pathway vitamin levels by using GWAS analysis in 3,305 european ancestry females//1,458 european ancestry males(p-value = 4E-11 ;OR = 0.1). 0.4 Genome-wide significant predictors of metabolites in the one-carbon metabolism pathway. NCRV0000002247 20694014 NONHSAT178272.1 rs4331426 G N/A 2,237 sub-saharan african ancestry cases//3,122 sub-saharan african ancestry controls; 1,462 sub-saharan african ancestry cases//4,604 sub-saharan african ancestry controls Orphanet_3389 N/A Associate Tuberculosis rs4331426-G of NONHSAT178272.1 is significantly associated with the tuberculosis by using GWAS analysis in 2,237 sub-saharan african ancestry cases//3,122 sub-saharan african ancestry controls; 1,462 sub-saharan african ancestry cases//4,604 sub-saharan african ancestry controls(p-value = 7E-9 ;OR = 1.19). 0.4 Genome-wide association analyses identifies a susceptibility locus for tuberculosis on chromosome 18q11.2. NCRV0000001633 18391951 NONHSAT029960.2 rs3825199 C N/A 30,968 european ancestry individuals; 8,541 european ancestry individuals EFO_0004339 N/A Associate Height rs3825199-C of NONHSAT029960.2 is significantly associated with the height by using GWAS analysis in 30,968 european ancestry individuals; 8,541 european ancestry individuals(p-value = 2E-7 ;OR = 6.2). 0.4 Many sequence variants affecting diversity of adult human height. NCRV0000001575 29228715 NONHSAT159789.1 rs7927484 ? N/A 855 austrian ancestry colonoscopy-negative controls//3,439 european ancestry controls NCIT_C16450 N/A Associate Colonoscopy-negative controls vs population controls rs7927484-? of NONHSAT159789.1 is significantly associated with the colonoscopy-negative controls vs population controls by using GWAS analysis in 855 austrian ancestry colonoscopy-negative controls//3,439 european ancestry controls(p-value = 3E-6 ;OR = 1.468). 0.4 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas. NCRV0000001397 28199695 NONHSAT175237.1 rs28513436 T N/A 16,576 european ancestry individuals EFO_0008380 N/A Associate Perceived unattractiveness to mosquitoes rs28513436-T of NONHSAT175237.1 is significantly associated with the perceived unattractiveness to mosquitoes by using GWAS analysis in 16,576 european ancestry individuals(p-value = 4E-6 ;OR = 0.285084). 0.4 GWAS of self-reported mosquito bite size, itch intensity and attractiveness to mosquitoes implicates immune-related predisposition loci. NCRV0000003170 25673412 NONHSAT141480.2 rs2650492 A N/A up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women EFO_0004342 N/A Associate Waist circumference rs2650492-A of NONHSAT141480.2 is significantly associated with the waist circumference by using GWAS analysis in up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women(p-value = 2E-11 ;OR = 0.0256). 0.4 New genetic loci link adipose and insulin biology to body fat distribution. NCRV0000000852 28424481 NONHSAT054904.2 rs1443267 A N/A 115 japanese ancestry female cases//419 japanese ancestry male and female controls EFO_0002689 N/A Associate Obstetric antiphospholipid syndrome rs1443267-A of NONHSAT054904.2 is significantly associated with the obstetric antiphospholipid syndrome by using GWAS analysis in 115 japanese ancestry female cases//419 japanese ancestry male and female controls(p-value = 3E-6 ;OR = 2.75). 0.4 The first genome-wide association study identifying new susceptibility loci for obstetric antiphospholipid syndrome. NCRV0000000069 22179738 NONHSAT103809.2 rs2303670 ? N/A 20 han chinese ancestry male gout cases//42 han chinese ancestry male controls EFO_0004274 N/A Associate Gout rs2303670-? of NONHSAT103809.2 is significantly associated with the gout by using GWAS analysis in 20 han chinese ancestry male gout cases//42 han chinese ancestry male controls(p-value = 1E-7 ;OR = ?). 0.4 Gout and type 2 diabetes have a mutual inter-dependent effect on genetic risk factors and higher incidences. NCRV0000003686 27225129 NONHSAT151920.1 rs1008078 T N/A 405,072 european ancestry individuals EFO_0004784 N/A Associate Educational attainment (years of education) rs1008078-T of NONHSAT151920.1 is significantly associated with the educational attainment (years of education) by using GWAS analysis in 405,072 european ancestry individuals(p-value = 3E-14 ;OR = 0.017238006). 0.4 Genome-wide association study identifies 74 loci associated with educational attainment. NCRV0000001900 26766742 NONHSAT190453.1 rs964293 ? N/A 554 european ancestry postmenopausal cases//729 european ancestry postmenopausal controls EFO_0005842 oestrogen-progestogen hormone therapy interaction Associate Colorectal cancer (oestrogen-progestogen hormone therapy interaction) rs964293-? of NONHSAT190453.1 is significantly associated with the colorectal cancer (oestrogen-progestogen hormone therapy interaction) by using GWAS analysis in 554 european ancestry postmenopausal cases//729 european ancestry postmenopausal controls(p-value = 5E-9 ;OR = 1.6393442). 0.4 CYP24A1 variant modifies the association between use of oestrogen plus progestogen therapy and colorectal cancer risk. NCRV0000002448 28763065 NONHSAT059881.2 rs138087875 A N/A 295 european//african american//asian//native american and other admixed ancestry infants//17 european//african american//asian//native american and other admixed ancestry sibling pairs//116 european//african american//asian//native american and other admixed ancestry twin pairs. EFO_0008368 N/A Associate Brain volume in infants (grey matter) rs138087875-A of NONHSAT059881.2 is significantly associated with the brain volume in infants (grey matter) by using GWAS analysis in 295 european//african american//asian//native american and other admixed ancestry infants//17 european//african american//asian//native american and other admixed ancestry sibling pairs//116 european//african american//asian//native american and other admixed ancestry twin pairs.(p-value = 4E-7 ;OR = 1.96). 0.4 Genome-wide association analysis identifies common variants influencing infant brain volumes. NCRV0000003521 25056061 NONHSAT152805.1 rs7523273 A N/A 32,405 european ancestry cases//42,221 european ancestry controls//1,235 european ancestry cases and 1,235 european ancestry controls from 1235 parent-offspring trios//1,836 east asian ancestry cases//3,383 east asian ancestry controls; 1,513 european ancestry cases//66,236 european ancestry controls EFO_0000692 N/A Associate Schizophrenia rs7523273-A of NONHSAT152805.1 is significantly associated with the schizophrenia by using GWAS analysis in 32,405 european ancestry cases//42,221 european ancestry controls//1,235 european ancestry cases and 1,235 european ancestry controls from 1235 parent-offspring trios//1,836 east asian ancestry cases//3,383 east asian ancestry controls; 1,513 european ancestry cases//66,236 european ancestry controls(p-value = 4E-8 ;OR = 1.063). 0.4 Biological insights from 108 schizophrenia-associated genetic loci. NCRV0000001536 25130324 NONHSAT170239.1 rs10484157 T N/A 1,778 european ancestry individuals//1,276 individuals EFO_0005852 N/A Associate Heschl's gyrus morphology rs10484157-T of NONHSAT170239.1 is significantly associated with the heschl's gyrus morphology by using GWAS analysis in 1,778 european ancestry individuals//1,276 individuals(p-value = 5E-6 ;OR = 10.01). 0.4 A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus. NCRV0000000405 22001757 NONHSAT067101.2 rs516246 T N/A up to 52,350 european ancestry individuals//up to 8,739 indian asian ancestry individuals EFO_0001421 N/A Associate Liver enzyme levels (gamma-glutamyl transferase) rs516246-T of NONHSAT067101.2 is significantly associated with the liver enzyme levels (gamma-glutamyl transferase) by using GWAS analysis in up to 52,350 european ancestry individuals//up to 8,739 indian asian ancestry individuals(p-value = 8E-10 ;OR = 2.3). 0.4 Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. NCRV0000003749 25378659 NONHSAT191649.1 rs2822687 T N/A 10,129 european ancestry individuals EFO_0006796 N/A Associate Very long-chain saturated fatty acid levels (fatty acid 20:0) rs2822687-T of NONHSAT191649.1 is significantly associated with the very long-chain saturated fatty acid levels (fatty acid 20:0) by using GWAS analysis in 10,129 european ancestry individuals(p-value = 7E-7 ;OR = 4.964). 0.4 Genetic loci associated with circulating levels of very long-chain saturated fatty acids. NCRV0000002294 20010835 NONHSAT198812.1 rs2869967 T N/A 20,890 european ancestry individuals; 16,178 european ancestry individuals EFO_0003892 N/A Associate Pulmonary function rs2869967-T of NONHSAT198812.1 is significantly associated with the pulmonary function by using GWAS analysis in 20,890 european ancestry individuals; 16,178 european ancestry individuals(p-value = 1E-7 ;OR = 0.3). 0.4 Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function. NCRV0000002856 27089181 NONHSAT100237.2 rs62341806 T N/A 298,420 korculan (founder/genetic isolate)//split (founder/genetic isolate)//vis (founder/genetic isolate)//erasmus rucphen (founder/genetic isolate) and other european ancestry individuals EFO_0007869 N/A Associate Subjective well-being rs62341806-T of NONHSAT100237.2 is significantly associated with the subjective well-being by using GWAS analysis in 298,420 korculan (founder/genetic isolate)//split (founder/genetic isolate)//vis (founder/genetic isolate)//erasmus rucphen (founder/genetic isolate) and other european ancestry individuals(p-value = 7E-7 ;OR = 0.014930834). 0.4 Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses. NCRV0000003169 21874001 NONHSAT079869.2 rs4812829 A N/A 5,561 south asian ancestry cases//14,458 south asian ancestry controls; 13,170 south asian ancestry cases//25,398 south asian ancestry controls EFO_0001360 N/A Associate Type 2 diabetes rs4812829-A of NONHSAT079869.2 is significantly associated with the type 2 diabetes by using GWAS analysis in 5,561 south asian ancestry cases//14,458 south asian ancestry controls; 13,170 south asian ancestry cases//25,398 south asian ancestry controls(p-value = 3E-10 ;OR = 1.09). 0.4 Genome-wide association study in individuals of South Asian ancestry identifies six new type 2 diabetes susceptibility loci. NCRV0000001984 25575512 NONHSAT211333.1 rs9457516 ? N/A 1,376 old order amish individuals EFO_0000319 N/A Associate Lipoprotein (a) - cholesterol levels rs9457516-? of NONHSAT211333.1 is significantly associated with the lipoprotein (a) - cholesterol levels by using GWAS analysis in 1,376 old order amish individuals(p-value = 6E-9 ;OR = ?). 0.4 Evidence for several independent genetic variants affecting lipoprotein (a) cholesterol levels. NCRV0000003024 27989323 NONHSAT108445.2 rs148287449 G N/A 7,565 finnish ancestry individuals EFO_0008130 N/A Associate Fibroblast growth factor basic levels rs148287449-G of NONHSAT108445.2 is significantly associated with the fibroblast growth factor basic levels by using GWAS analysis in 7,565 finnish ancestry individuals(p-value = 3E-6 ;OR = 0.2013). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. NCRV0000000995 21573907 NONHSAT031256.2 rs7305618 C N/A 1,804 hispanic cases//780 hispanic controls; european ancestry individuals EFO_0001360 N/A Associate Type 2 diabetes rs7305618-C of NONHSAT031256.2 is significantly associated with the type 2 diabetes by using GWAS analysis in 1,804 hispanic cases//780 hispanic controls; european ancestry individuals(p-value = 2E-8 ;OR = 1.14). 0.4 Genome-wide association study of type 2 diabetes in a sample from Mexico City and a meta-analysis of a Mexican-American sample from Starr County, Texas. NCRV0000003255 27863252 NONHSAT187004.1 rs7596219 G N/A 164,454 european ancestry individuals EFO_0004584 N/A Associate Mean platelet volume rs7596219-G of NONHSAT187004.1 is significantly associated with the mean platelet volume by using GWAS analysis in 164,454 european ancestry individuals(p-value = 2E-12 ;OR = 0.08218895). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003093 21946350 NONHSAT206941.1 rs1928168 T N/A 48,201 european ancestry individuals; 46,411 european ancestry individuals EFO_0003892 N/A Associate Pulmonary function rs1928168-T of NONHSAT206941.1 is significantly associated with the pulmonary function by using GWAS analysis in 48,201 european ancestry individuals; 46,411 european ancestry individuals(p-value = 2E-7 ;OR = 0.028). 0.4 Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function. NCRV0000002351 23251661 NONHSAT180527.1 rs2230245 A N/A 815 hispanic children from 263 families EFO_0005190 N/A Associate Obesity-related traits rs2230245-A of NONHSAT180527.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 6E-6 ;OR = 0.04). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. NCRV0000001211 18391951 NONHSAT186326.1 rs1052483 C N/A 30,968 european ancestry individuals; 8,541 european ancestry individuals EFO_0004339 N/A Associate Height rs1052483-C of NONHSAT186326.1 is significantly associated with the height by using GWAS analysis in 30,968 european ancestry individuals; 8,541 european ancestry individuals(p-value = 1E-6 ;OR = 6.9). 0.4 Many sequence variants affecting diversity of adult human height. NCRV0000003784 22445761 NONHSAT169687.1 rs857228 T N/A 201 japanese ancestry individuals EFO_0004714 N/A Associate Sexual dysfunction (ssri/snri-related) rs857228-T of NONHSAT169687.1 is significantly associated with the sexual dysfunction (ssri/snri-related) by using GWAS analysis in 201 japanese ancestry individuals(p-value = 3E-6 ;OR = 2.56). 0.4 Genome-wide association study of SSRI/SNRI-induced sexual dysfunction in a Japanese cohort with major depression. NCRV0000001361 25387704 NONHSAT193899.1 rs9311474 ? N/A 2,383 european ancestry adolescents and 1,643 european ancestry adults from 1,613 families EFO_0000677 N/A Associate Electroencephalogram traits rs9311474-? of NONHSAT193899.1 is significantly associated with the electroencephalogram traits by using GWAS analysis in 2,383 european ancestry adolescents and 1,643 european ancestry adults from 1,613 families(p-value = 9E-6 ;OR = 0.094). 0.4 Heritability and molecular-genetic basis of resting EEG activity: a genome-wide association study. NCRV0000000657 28199695 NONHSAT209026.1 rs9368780 G N/A 84,724 european ancestry individuals EFO_0008378 N/A Associate Mosquito bite size rs9368780-G of NONHSAT209026.1 is significantly associated with the mosquito bite size by using GWAS analysis in 84,724 european ancestry individuals(p-value = 3E-6 ;OR = 0.0313285). 0.4 GWAS of self-reported mosquito bite size, itch intensity and attractiveness to mosquitoes implicates immune-related predisposition loci. NCRV0000000702 28566273 NONHSAT159070.1 rs1061810 A N/A up to 26,676 european ancestry cases//up to 132,532 european ancestry controls; 14,545 european ancestry cases//38,994 european ancestry controls EFO_0001360 N/A Associate Type 2 diabetes rs1061810-A of NONHSAT159070.1 is significantly associated with the type 2 diabetes by using GWAS analysis in up to 26,676 european ancestry cases//up to 132,532 european ancestry controls; 14,545 european ancestry cases//38,994 european ancestry controls(p-value = 4E-10 ;OR = 1.07). 0.4 An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans. NCRV0000002170 26733130 NONHSAT185435.1 rs55983207 C N/A up to 20,162 european ancestry individuals; 10,037 european and east asian ancestry individuals EFO_0007702 N/A Associate Bone mineral density (hip) rs55983207-C of NONHSAT185435.1 is significantly associated with the bone mineral density (hip) by using GWAS analysis in up to 20,162 european ancestry individuals; 10,037 european and east asian ancestry individuals(p-value = 3E-10 ;OR = 0.219). 0.4 Sequence variants in the PTCH1 gene associate with spine bone mineral density and osteoporotic fractures. NCRV0000000640 28991256 NONHSAT183690.1 rs2194545 G N/A 7,699 chinese ancestry cases//35,476 european ancestry cases//18,327 chinese ancestry controls//46,839 european ancestry controls; 4,384 chinese ancestry cases//5,770 chinese ancestry controls EFO_0000692 N/A Associate Schizophrenia rs2194545-G of NONHSAT183690.1 is significantly associated with the schizophrenia by using GWAS analysis in 7,699 chinese ancestry cases//35,476 european ancestry cases//18,327 chinese ancestry controls//46,839 european ancestry controls; 4,384 chinese ancestry cases//5,770 chinese ancestry controls(p-value = 2E-6 ;OR = 1.048218). 0.4 Genome-wide association analysis identifies 30 new susceptibility loci for schizophrenia. NCRV0000002247 24057671 NONHSAT178272.1 rs4331426 ? N/A 642 south african coloured cases//91 south african coloured controls//(see thye 2010) Orphanet_3389 N/A Associate Tuberculosis rs4331426-? of NONHSAT178272.1 is significantly associated with the tuberculosis by using GWAS analysis in 642 south african coloured cases//91 south african coloured controls//(see thye 2010)(p-value = 2E-8 ;OR = ?). 0.4 Genome-wide association study of ancestry-specific TB risk in the South African Coloured population. NCRV0000002425 28598434 NONHSAT216848.1 rs2241261 T N/A 10,784 european ancestry cases//20,406 european ancestry controls; 3,182 european ancestry cases//6,301 european ancestry controls EFO_0000681 N/A Associate Renal cell carcinoma rs2241261-T of NONHSAT216848.1 is significantly associated with the renal cell carcinoma by using GWAS analysis in 10,784 european ancestry cases//20,406 european ancestry controls; 3,182 european ancestry cases//6,301 european ancestry controls(p-value = 6E-9 ;OR = 1.1). 0.4 Genome-wide association study identifies multiple risk loci for renal cell carcinoma. NCRV0000001025 25673412 NONHSAT168677.1 rs7144011 T N/A up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women EFO_0005093 N/A Associate Hip circumference rs7144011-T of NONHSAT168677.1 is significantly associated with the hip circumference by using GWAS analysis in up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women(p-value = 2E-11 ;OR = 0.0395). 0.4 New genetic loci link adipose and insulin biology to body fat distribution. NCRV0000001136 27863252 NONHSAT164005.1 rs11348701 A N/A 166,066 european ancestry individuals EFO_0004309 N/A Associate Platelet count rs11348701-A of NONHSAT164005.1 is significantly associated with the platelet count by using GWAS analysis in 166,066 european ancestry individuals(p-value = 3E-34 ;OR = 0.05231826). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000016 22610502 NONHSAT192288.1 rs738968 C N/A up to 512 european ancestry individuals//up to 199 african american individuals EFO_0004645 N/A Associate Immune reponse to smallpox (secreted tnf-alpha) rs738968-C of NONHSAT192288.1 is significantly associated with the immune reponse to smallpox (secreted tnf-alpha) by using GWAS analysis in up to 512 european ancestry individuals//up to 199 african american individuals(p-value = 8E-8 ;OR = ?). 0.4 Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. NCRV0000000804 21909115 NONHSAT189066.1 rs6015450 G N/A 69,395 european ancestry individuals; up to 133,361 european ancestry individuals EFO_0006336 N/A Associate Diastolic blood pressure rs6015450-G of NONHSAT189066.1 is significantly associated with the diastolic blood pressure by using GWAS analysis in 69,395 european ancestry individuals; up to 133,361 european ancestry individuals(p-value = 6E-23 ;OR = 0.557). 0.4 Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. NCRV0000002062 28073927 NONHSAT190055.1 rs6054375 T N/A 20,353 european ancestry individuals//2,131 erasmus rucphen (founder/genetic isolate) individuals; 7,333 asian ancestry individuals EFO_0004190 N/A Associate Optic cup area rs6054375-T of NONHSAT190055.1 is significantly associated with the optic cup area by using GWAS analysis in 20,353 european ancestry individuals//2,131 erasmus rucphen (founder/genetic isolate) individuals; 7,333 asian ancestry individuals(p-value = 2E-15 ;OR = 0.018). 0.4 New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics. NCRV0000003074 21743469 NONHSAT001678.2 rs11249215 A N/A 3,023 european ancestry cases//8,779 european ancestry controls; 2,111 european ancestry cases//4,483 european ancestry controls EFO_0003898 N/A Associate Ankylosing spondylitis rs11249215-A of NONHSAT001678.2 is significantly associated with the ankylosing spondylitis by using GWAS analysis in 3,023 european ancestry cases//8,779 european ancestry controls; 2,111 european ancestry cases//4,483 european ancestry controls(p-value = 9E-11 ;OR = ?). 0.4 Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility. NCRV0000001441 26545240 NONHSAT215969.1 rs73318770 G N/A 154 african american cases//948 african american controls//163 hispanic cases//305 hispanic controls EFO_0004710 N/A Associate Pelvic organ prolapse (moderate/severe) rs73318770-G of NONHSAT215969.1 is significantly associated with the pelvic organ prolapse (moderate/severe) by using GWAS analysis in 154 african american cases//948 african american controls//163 hispanic cases//305 hispanic controls(p-value = 8E-7 ;OR = 3.21). 0.4 Genetic Determinants of Pelvic Organ Prolapse among African American and Hispanic Women in the Women's Health Initiative. NCRV0000003861 27863252 NONHSAT101836.2 rs3756668 A N/A 172,332 european ancestry individuals EFO_0004527 N/A Associate Mean corpuscular hemoglobin rs3756668-A of NONHSAT101836.2 is significantly associated with the mean corpuscular hemoglobin by using GWAS analysis in 172,332 european ancestry individuals(p-value = 4E-17 ;OR = 0.02984507). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001595 25429064 NONHSAT218901.1 rs2062078 T N/A 36,227 east asian ancestry individuals; 57,699 east asian ancestry individuals EFO_0004339 N/A Associate Height rs2062078-T of NONHSAT218901.1 is significantly associated with the height by using GWAS analysis in 36,227 east asian ancestry individuals; 57,699 east asian ancestry individuals(p-value = 1E-13 ;OR = 0.032). 0.4 Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. NCRV0000003094 27723756 NONHSAT174436.1 rs1362404 T N/A 1,812 european ancestry individuals EFO_0007874 bacterial taxa Associate Gut microbiota (bacterial taxa) rs1362404-T of NONHSAT174436.1 is significantly associated with the gut microbiota (bacterial taxa) by using GWAS analysis in 1,812 european ancestry individuals(p-value = 2E-8 ;OR = 0.23). 0.4 Genome-wide association analysis identifies variation in vitamin D receptor and other host factors influencing the gut microbiota. NCRV0000000410 27863252 NONHSAT184466.1 rs711244 T N/A 164,454 european ancestry individuals EFO_0004584 N/A Associate Mean platelet volume rs711244-T of NONHSAT184466.1 is significantly associated with the mean platelet volume by using GWAS analysis in 164,454 european ancestry individuals(p-value = 8E-22 ;OR = 0.03503109). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001057 27989323 NONHSAT073683.2 rs149731228 AAAAG N/A 3,685 finnish ancestry individuals EFO_0005140 N/A Associate Monokine induced by gamma interferon levels rs149731228-AAAAG of NONHSAT073683.2 is significantly associated with the monokine induced by gamma interferon levels by using GWAS analysis in 3,685 finnish ancestry individuals(p-value = 3E-6 ;OR = 0.2152). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. NCRV0000000988 28067908 NONHSAT206871.1 rs17119 ? N/A 12,194 european and unknown ancestry cases//28,072 european and unknown ancestry controls EFO_0000384 N/A Associate Crohn's disease rs17119-? of NONHSAT206871.1 is significantly associated with the crohn's disease by using GWAS analysis in 12,194 european and unknown ancestry cases//28,072 european and unknown ancestry controls(p-value = 2E-7 ;OR = ?). 0.4 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. NCRV0000001235 23273568 NONHSAT115190.2 rs2230926 G N/A 1,656 han chinese ancestry cases//3,394 han chinese ancestry controls; 3,256 han chinese ancestry cases//5,667 han chinese ancestry controls//453 thai ancestry cases//963 thai ancestry controls EFO_0002690 N/A Associate Systemic lupus erythematosus rs2230926-G of NONHSAT115190.2 is significantly associated with the systemic lupus erythematosus by using GWAS analysis in 1,656 han chinese ancestry cases//3,394 han chinese ancestry controls; 3,256 han chinese ancestry cases//5,667 han chinese ancestry controls//453 thai ancestry cases//963 thai ancestry controls(p-value = 1E-13 ;OR = 2.71). 0.4 Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians. NCRV0000002001 23382691 NONHSAT035982.2 rs8010715 C N/A 2,247 european ancestry individuals EFO_0002690 N/A Associate Igg glycosylation rs8010715-C of NONHSAT035982.2 is significantly associated with the igg glycosylation by using GWAS analysis in 2,247 european ancestry individuals(p-value = 9E-6 ;OR = 0.1664). 0.4 Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. NCRV0000002658 28240269 NONHSAT010798.2 rs1339847 A N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008114 N/A Associate Blood protein levels rs1339847-A of NONHSAT010798.2 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 9E-33 ;OR = 0.8472). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. NCRV0000001800 21685187 NONHSAT182644.1 rs4662984 A N/A 3,397 european ancestry cases EFO_0005670 N/A Associate Age at smoking initiation in chronic obstructive pulmonary disease rs4662984-A of NONHSAT182644.1 is significantly associated with the age at smoking initiation in chronic obstructive pulmonary disease by using GWAS analysis in 3,397 european ancestry cases(p-value = 2E-7 ;OR = 0.057). 0.4 Genome-wide association study of smoking behaviours in patients with COPD. NCRV0000000771 22010049 NONHSAT148436.1 rs1497406 T N/A 12,526 european ancestry individuals EFO_0004532 N/A Associate Gamma gluatamyl transferase levels rs1497406-T of NONHSAT148436.1 is significantly associated with the gamma gluatamyl transferase levels by using GWAS analysis in 12,526 european ancestry individuals(p-value = 4E-8 ;OR = 0.078). 0.4 Loci affecting gamma-glutamyl transferase in adults and adolescents show age x SNP interaction and cardiometabolic disease associations. NCRV0000002776 28892062 NONHSAT186760.1 rs10182181 G N/A up to 72,390 japanese ancestry women//up to 85,894 japanese ancestry men; up to 10,048 japanese ancestry women//up to 5,098 japanese ancestry men//up to 181,999 european ancestry women//up to 140,155 european ancestry controls EFO_0001073 N/A Associate Body mass index rs10182181-G of NONHSAT186760.1 is significantly associated with the body mass index by using GWAS analysis in up to 72,390 japanese ancestry women//up to 85,894 japanese ancestry men; up to 10,048 japanese ancestry women//up to 5,098 japanese ancestry men//up to 181,999 european ancestry women//up to 140,155 european ancestry controls(p-value = 3E-32 ;OR = 0.028). 0.4 Genome-wide association study identifies 112 new loci for body mass index in the Japanese population. NCRV0000001758 26068415 NONHSAT188483.1 rs680379 A N/A up to 7,478 european ancestry individuals; 1,182 european ancestry individuals EFO_0007630 N/A Associate Glycerophospholipid levels rs680379-A of NONHSAT188483.1 is significantly associated with the glycerophospholipid levels by using GWAS analysis in up to 7,478 european ancestry individuals; 1,182 european ancestry individuals(p-value = 2E-21 ;OR = 0.0441). 0.4 Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels. NCRV0000000577 23704328 NONHSAT176513.1 rs8080944 A N/A 11,118 european ancestry individuals; GO_0044691 N/A Associate Primary tooth development (time to first tooth eruption) rs8080944-A of NONHSAT176513.1 is significantly associated with the primary tooth development (time to first tooth eruption) by using GWAS analysis in 11,118 european ancestry individuals; (p-value = 8E-34 ;OR = 0.341). 0.4 Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances. NCRV0000003479 22634755 NONHSAT159410.1 rs3824999 ? N/A 8,323 european ancestry cases//9,457 european ancestry controls; 19,513 european ancestry cases//17,657 european ancestry controls//1,583 japanese ancestry cases//1,898 japanese ancestry controls EFO_0005842 N/A Associate Colorectal cancer rs3824999-? of NONHSAT159410.1 is significantly associated with the colorectal cancer by using GWAS analysis in 8,323 european ancestry cases//9,457 european ancestry controls; 19,513 european ancestry cases//17,657 european ancestry controls//1,583 japanese ancestry cases//1,898 japanese ancestry controls(p-value = 4E-10 ;OR = 1.08). 0.4 Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk. NCRV0000003850 27702941 NONHSAT214397.1 rs10683220 G N/A 9,054 european ancestry individuals; 822 european ancestry individuals EFO_0007872 N/A Associate Caffeine metabolism (plasma 1,3,7-trimethylxanthine (caffeine) level) rs10683220-G of NONHSAT214397.1 is significantly associated with the caffeine metabolism (plasma 1,3,7-trimethylxanthine (caffeine) level) by using GWAS analysis in 9,054 european ancestry individuals; 822 european ancestry individuals(p-value = 2E-6 ;OR = 4.7). 0.4 Genome-wide association study of caffeine metabolites provides new insights to caffeine metabolism and dietary caffeine-consumption behavior. NCRV0000003595 24024966 NONHSAT036467.2 rs12587630 A N/A up to 3,915 european ancestry individuals EFO_0000649 N/A Associate Periodontitis (cdc/aap) rs12587630-A of NONHSAT036467.2 is significantly associated with the periodontitis (cdc/aap) by using GWAS analysis in up to 3,915 european ancestry individuals(p-value = 7E-6 ;OR = 2.69). 0.4 Genome-wide association study of chronic periodontitis in a general German population. NCRV0000003437 26733130 NONHSAT208011.1 rs577721086 C N/A up to 20,132 european ancestry individuals; 10,092 european and east asian ancestry individuals EFO_0007701 N/A Associate Bone mineral density (spine) rs577721086-C of NONHSAT208011.1 is significantly associated with the bone mineral density (spine) by using GWAS analysis in up to 20,132 european ancestry individuals; 10,092 european and east asian ancestry individuals(p-value = 7E-10 ;OR = 0.137). 0.4 Sequence variants in the PTCH1 gene associate with spine bone mineral density and osteoporotic fractures. NCRV0000001531 20713499 NONHSAT192758.1 rs1001021 A N/A 402 european ancestry schizophrenia cases//1,021 european ancestry bipolar i cases//493 european ancestry bipolar ii cases//1,210 european ancestry mdd cases//1,060 european ancestry controls EFO_0000677 N/A Associate Schizophrenia//bipolar disorder and depression (combined) rs1001021-A of NONHSAT192758.1 is significantly associated with the schizophrenia//bipolar disorder and depression (combined) by using GWAS analysis in 402 european ancestry schizophrenia cases//1,021 european ancestry bipolar i cases//493 european ancestry bipolar ii cases//1,210 european ancestry mdd cases//1,060 european ancestry controls(p-value = 2E-6 ;OR = ?). 0.4 Cross-disorder genomewide analysis of schizophrenia, bipolar disorder, and depression. NCRV0000003081 26252872 NONHSAT151238.1 rs78649275 T N/A 472 european ancestry cases//47 cases HP_0100543 N/A Associate Cognitive decline rate in late mild cognitive impairment rs78649275-T of NONHSAT151238.1 is significantly associated with the cognitive decline rate in late mild cognitive impairment by using GWAS analysis in 472 european ancestry cases//47 cases(p-value = 4E-8 ;OR = 0.5951). 0.4 Variations in the FRA10AC1 Fragile Site and 15q21 Are Associated with Cerebrospinal Fluid Abeta1-42 Level. NCRV0000002097 22001757 NONHSAT148436.1 rs1497406 G N/A up to 52,350 european ancestry individuals//up to 8,739 indian asian ancestry individuals EFO_0001421 N/A Associate Liver enzyme levels (gamma-glutamyl transferase) rs1497406-G of NONHSAT148436.1 is significantly associated with the liver enzyme levels (gamma-glutamyl transferase) by using GWAS analysis in up to 52,350 european ancestry individuals//up to 8,739 indian asian ancestry individuals(p-value = 3E-19 ;OR = 3.8). 0.4 Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. NCRV0000001443 27863252 NONHSAT173451.1 rs2968478 G N/A 173,039 european ancestry individuals EFO_0004348 N/A Associate Hematocrit rs2968478-G of NONHSAT173451.1 is significantly associated with the hematocrit by using GWAS analysis in 173,039 european ancestry individuals(p-value = 1E-13 ;OR = 0.02697652). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000182 26634245 NONHSAT180592.1 rs139704751 T N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs139704751-T of NONHSAT180592.1 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 1E-6 ;OR = 0.59). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000003451 28112199 NONHSAT185338.1 rs12711846 G N/A 1,842 european ancestry chronic lymphocytic leukemia cases//1,465 european ancestry hodgkin lymphoma cases//3,790 european ancestry multiple myeloma cases//7,324 european ancestry controls EFO_0000183 N/A Associate B-cell malignancies (chronic lymphocytic leukemia//hodgkin lymphoma or multiple myeloma) (pleiotropy) rs12711846-G of NONHSAT185338.1 is significantly associated with the b-cell malignancies (chronic lymphocytic leukemia//hodgkin lymphoma or multiple myeloma) (pleiotropy) by using GWAS analysis in 1,842 european ancestry chronic lymphocytic leukemia cases//1,465 european ancestry hodgkin lymphoma cases//3,790 european ancestry multiple myeloma cases//7,324 european ancestry controls(p-value = 3E-14 ;OR = ?). 0.4 Genome-wide association analysis of chronic lymphocytic leukaemia, Hodgkin lymphoma and multiple myeloma identifies pleiotropic risk loci. NCRV0000002107 27770636 NONHSAT164499.1 rs7313581 T N/A 1,825 african american ancestry cases//3,784 african american ancestry controls; EFO_1001870 N/A Associate Late-onset alzheimer's disease rs7313581-T of NONHSAT164499.1 is significantly associated with the late-onset alzheimer's disease by using GWAS analysis in 1,825 african american ancestry cases//3,784 african american ancestry controls; (p-value = 8E-7 ;OR = 0.09). 0.4 Two novel loci, COBL and SLC10A2, for Alzheimer's disease in African Americans. NCRV0000001689 27182965 NONHSAT067101.2 rs681343 ? N/A 46,936 european ancestry cases//74,874 european ancestry controls EFO_0007904 N/A Associate Childhood ear infection rs681343-? of NONHSAT067101.2 is significantly associated with the childhood ear infection by using GWAS analysis in 46,936 european ancestry cases//74,874 european ancestry controls(p-value = 4E-30 ;OR = 1.1049724). 0.4 Detection and interpretation of shared genetic influences on 42 human traits. NCRV0000003933 29071344 NONHSAT185675.1 rs13031275 C N/A 3,041 african american individuals//1,618 european ancestry individuals; 1,612 african american individuals//1,551 european ancestry individuals EFO_0003829 N/A Associate Major depression and alcohol dependence rs13031275-C of NONHSAT185675.1 is significantly associated with the major depression and alcohol dependence by using GWAS analysis in 3,041 african american individuals//1,618 european ancestry individuals; 1,612 african american individuals//1,551 european ancestry individuals(p-value = 5E-6 ;OR = 1.032). 0.4 Genetic Risk Variants Associated With Comorbid Alcohol Dependence and Major Depression. NCRV0000003675 23251661 NONHSAT210092.1 rs12190007 A N/A 815 hispanic children from 263 families EFO_0005116 N/A Associate Obesity-related traits rs12190007-A of NONHSAT210092.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 5E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. NCRV0000003245 28430825 NONHSAT216823.1 rs149352150 G N/A 16,559 african ancestry men//26,193 african ancestry women; 2,458 african ancestry men//7,685 african ancestry women//152,893 european ancestry men//171,977 european ancestry women EFO_0001073 N/A Associate Body mass index (adult) rs149352150-G of NONHSAT216823.1 is significantly associated with the body mass index (adult) by using GWAS analysis in 16,559 african ancestry men//26,193 african ancestry women; 2,458 african ancestry men//7,685 african ancestry women//152,893 european ancestry men//171,977 european ancestry women(p-value = 5E-8 ;OR = 0.299). 0.4 Discovery and fine-mapping of adiposity loci using high density imputation of genome-wide association studies in individuals of African ancestry: African Ancestry Anthropometry Genetics Consortium. NCRV0000000357 23726366 NONHSAT179797.1 rs12721054 G N/A 7,601 african american individuals//3,335 hispanic individuals; 7,138 african american individuals EFO_0000319 N/A Associate Triglycerides rs12721054-G of NONHSAT179797.1 is significantly associated with the triglycerides by using GWAS analysis in 7,601 african american individuals//3,335 hispanic individuals; 7,138 african american individuals(p-value = 3E-19 ;OR = 0.101). 0.4 Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations. NCRV0000002504 28537254 NONHSAT169687.1 rs142903734 AAG N/A up to 11,988 european ancestry cases//up to 275,335 european ancestry controls; 7,044 european ancestry cases//11,434 european ancestry controls EFO_0000676 N/A Associate Psoriasis rs142903734-AAG of NONHSAT169687.1 is significantly associated with the psoriasis by using GWAS analysis in up to 11,988 european ancestry cases//up to 275,335 european ancestry controls; 7,044 european ancestry cases//11,434 european ancestry controls(p-value = 7E-9 ;OR = 1.12). 0.4 Large scale meta-analysis characterizes genetic architecture for common psoriasis associated variants. NCRV0000000274 23793025 NONHSAT162133.1 rs2074193 C N/A 5,118 european ancestry cases//74,239 european ancestry controls EFO_0003821 N/A Associate Migraine with aura rs2074193-C of NONHSAT162133.1 is significantly associated with the migraine with aura by using GWAS analysis in 5,118 european ancestry cases//74,239 european ancestry controls(p-value = 5E-7 ;OR = 1.15). 0.4 Genome-wide meta-analysis identifies new susceptibility loci for migraine. NCRV0000000727 28448500 NONHSAT200487.1 rs7689420 C N/A 2,518 african american women//85,730 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//54,792 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men EFO_0007789 joint analysis main effects and physical activity interaction Associate Waist circumference adjusted for bmi in active individuals rs7689420-C of NONHSAT200487.1 is significantly associated with the waist circumference adjusted for bmi in active individuals by using GWAS analysis in 2,518 african american women//85,730 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//54,792 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men(p-value = 3E-8 ;OR = 0.042). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. NCRV0000000885 23251661 NONHSAT206072.1 rs17668565 G N/A 815 hispanic children from 263 families EFO_0001073 N/A Associate Obesity-related traits rs17668565-G of NONHSAT206072.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 9E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. NCRV0000003133 23535733 NONHSAT211293.1 rs2046210 A N/A 4,193 european ancestry cases//35,194 european ancestry controls; 6,514 european ancestry cases//41,455 european ancestry controls EFO_0000305 N/A Associate Breast cancer rs2046210-A of NONHSAT211293.1 is significantly associated with the breast cancer by using GWAS analysis in 4,193 european ancestry cases//35,194 european ancestry controls; 6,514 european ancestry cases//41,455 european ancestry controls(p-value = 5E-16 ;OR = 1.15). 0.4 Genome-wide association studies identify four ER negative-specific breast cancer risk loci. NCRV0000003838 19557161 NONHSAT150553.1 rs2605100 G N/A 38,580 european ancestry individuals; up to 102,064 european ancestry individuals EFO_0001073 N/A Associate Adiposity rs2605100-G of NONHSAT150553.1 is significantly associated with the adiposity by using GWAS analysis in 38,580 european ancestry individuals; up to 102,064 european ancestry individuals(p-value = 3E-8 ;OR = 0.04). 0.4 Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution. NCRV0000001017 24920014 NONHSAT217627.1 rs2019960 C N/A 1,816 european ancestry cases//7,877 european ancestry controls; 1,281 european ancestry cases//3,218 european ancestry controls EFO_0000183 N/A Associate Hodgkin's lymphoma rs2019960-C of NONHSAT217627.1 is significantly associated with the hodgkin's lymphoma by using GWAS analysis in 1,816 european ancestry cases//7,877 european ancestry controls; 1,281 european ancestry cases//3,218 european ancestry controls(p-value = 7E-8 ;OR = 1.3). 0.4 A meta-analysis of Hodgkin lymphoma reveals 19p13.3 TCF3 as a novel susceptibility locus. NCRV0000001901 26222057 NONHSAT215355.1 rs2936519 A N/A 256 cases treated with capox-b plus cetuximab//264 cases treated with capox-b EFO_1001480 N/A Associate Progression free survival in metastatic colorectal cancer (capox-b vs capox-b plus cetuximab) rs2936519-A of NONHSAT215355.1 is significantly associated with the progression free survival in metastatic colorectal cancer (capox-b vs capox-b plus cetuximab) by using GWAS analysis in 256 cases treated with capox-b plus cetuximab//264 cases treated with capox-b(p-value = 2E-7 ;OR = 1.8867927). 0.4 Genome Wide Association Study for Predictors of Progression Free Survival in Patients on Capecitabine, Oxaliplatin, Bevacizumab and Cetuximab in First-Line Therapy of Metastatic Colorectal Cancer. NCRV0000002013 23247143 NONHSAT185135.1 rs11886999 T N/A 9,491 european ancestry individuals//up to 2,053 african american individuals EFO_0003914 N/A Associate Cardiac troponin-t levels rs11886999-T of NONHSAT185135.1 is significantly associated with the cardiac troponin-t levels by using GWAS analysis in 9,491 european ancestry individuals//up to 2,053 african american individuals(p-value = 8E-6 ;OR = 0.04). 0.4 Association of genome-wide variation with highly sensitive cardiac troponin-T levels in European Americans and Blacks: a meta-analysis from atherosclerosis risk in communities and cardiovascular health studies. NCRV0000003533 27021288 NONHSAT155513.1 rs140265971 A N/A 1,060 european ancestry adult cases HP_0000718 N/A Associate Aggressiveness in attention deficit hyperactivity disorder rs140265971-A of NONHSAT155513.1 is significantly associated with the aggressiveness in attention deficit hyperactivity disorder by using GWAS analysis in 1,060 european ancestry adult cases(p-value = 7E-6 ;OR = 3.1539). 0.4 Genome-wide analyses of aggressiveness in attention-deficit hyperactivity disorder. NCRV0000001964 28453575 NONHSAT139199.2 rs1050828 C N/A 12,502 hispanic/latino individuals; 4,772 hispanic/latino individuals EFO_0004526 N/A Associate Mean corpuscular volume rs1050828-C of NONHSAT139199.2 is significantly associated with the mean corpuscular volume by using GWAS analysis in 12,502 hispanic/latino individuals; 4,772 hispanic/latino individuals(p-value = 1E-17 ;OR = 1.92). 0.4 Genome-wide association study of red blood cell traits in Hispanics/Latinos: The Hispanic Community Health Study/Study of Latinos. NCRV0000002210 25390645 NONHSAT168796.1 rs7141336 C N/A 324 african american cases//273 african american controls//757 european ancestry cases//940 european ancestry controls EFO_0006788 N/A Associate Anxiety disorder rs7141336-C of NONHSAT168796.1 is significantly associated with the anxiety disorder by using GWAS analysis in 324 african american cases//273 african american controls//757 european ancestry cases//940 european ancestry controls(p-value = 6E-6 ;OR = 0.19). 0.4 Genome-wide and gene-based association studies of anxiety disorders in European and African American samples. NCRV0000000504 28739976 NONHSAT221423.1 rs6271 T N/A 150,134 european ancestry individuals; 87,359 european ancestry individuals//140,886 european and unknown ancestry individuals EFO_0006336 N/A Associate Diastolic blood pressure rs6271-T of NONHSAT221423.1 is significantly associated with the diastolic blood pressure by using GWAS analysis in 150,134 european ancestry individuals; 87,359 european ancestry individuals//140,886 european and unknown ancestry individuals(p-value = 4E-7 ;OR = 0.51). 0.4 Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.LID - HYPERTENSIONAHA.117.09438 [pii]LID - 10.1161/HYPERTENSIONAHA.117.09438 [doi]AB - Elevated blood pressure NCRV0000002918 28703219 NONHSAT201363.1 rs1874564 G N/A 410 korean ancestry cases//8,279 korean ancestry controls; 587 korean ancestry cases//605 korean ancestry controls EFO_0000641 N/A Associate Papillary thyroid cancer rs1874564-G of NONHSAT201363.1 is significantly associated with the papillary thyroid cancer by using GWAS analysis in 410 korean ancestry cases//8,279 korean ancestry controls; 587 korean ancestry cases//605 korean ancestry controls(p-value = 6E-7 ;OR = 1.31). 0.4 Genome-wide association and expression quantitative trait loci studies identify multiple susceptibility loci for thyroid cancer. NCRV0000001774 24468470 NONHSAT081780.2 rs9980664 ? N/A 5,765 european ancestry individuals//890 african american individuals HP_0100543 N/A Associate Cognitive decline (age-related) rs9980664-? of NONHSAT081780.2 is significantly associated with the cognitive decline (age-related) by using GWAS analysis in 5,765 european ancestry individuals//890 african american individuals(p-value = 3E-6 ;OR = 0.0272). 0.4 Genetic susceptibility to accelerated cognitive decline in the US Health and Retirement Study. NCRV0000000841 20453838 NONHSAT159347.1 rs614367 T N/A 3,659 european ancestry cases//4,897 european ancestry controls; 12,576 european ancestry cases//12,223 european ancestry controls EFO_0000305 N/A Associate Breast cancer rs614367-T of NONHSAT159347.1 is significantly associated with the breast cancer by using GWAS analysis in 3,659 european ancestry cases//4,897 european ancestry controls; 12,576 european ancestry cases//12,223 european ancestry controls(p-value = 3E-15 ;OR = 1.15). 0.4 Genome-wide association study identifies five new breast cancer susceptibility loci. NCRV0000000748 24324551 NONHSAT112894.2 rs61018535 ? N/A 580 brazilian ancestry individuals EFO_0005529 N/A Associate Pr interval in tripanosoma cruzi seropositivity rs61018535-? of NONHSAT112894.2 is significantly associated with the pr interval in tripanosoma cruzi seropositivity by using GWAS analysis in 580 brazilian ancestry individuals(p-value = 2E-7 ;OR = ?). 0.4 Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects. NCRV0000000794 27863252 NONHSAT176938.1 rs12453682 T N/A 172,332 european ancestry individuals EFO_0004527 N/A Associate Mean corpuscular hemoglobin rs12453682-T of NONHSAT176938.1 is significantly associated with the mean corpuscular hemoglobin by using GWAS analysis in 172,332 european ancestry individuals(p-value = 3E-10 ;OR = 0.02448577). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000249 27863252 NONHSAT174663.1 rs12711490 C N/A 170,721 european ancestry individuals EFO_0005091 N/A Associate Monocyte count rs12711490-C of NONHSAT174663.1 is significantly associated with the monocyte count by using GWAS analysis in 170,721 european ancestry individuals(p-value = 1E-65 ;OR = 0.07314192). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003919 24315451 NONHSAT052350.2 rs3751972 C N/A 5,131 european ancestry individuals//1,155 hispanic individuals//2,572 individuals EFO_0005536 N/A Associate Fractional exhaled nitric oxide (childhood) rs3751972-C of NONHSAT052350.2 is significantly associated with the fractional exhaled nitric oxide (childhood) by using GWAS analysis in 5,131 european ancestry individuals//1,155 hispanic individuals//2,572 individuals(p-value = 2E-10 ;OR = 0.086). 0.4 Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants. NCRV0000002776 28443625 NONHSAT186760.1 rs10182181 A N/A 98,173 european ancestry women//64,373 european ancestry men//5,829 european ancestry individuals//10,500 african american/afro-caribbean ancestry women//2,706 african american/afro-caribbean ancestry men//1,030 indian asian ancestry women//7,648 indian asian ancestry men//1,793 filipino ancestry women//2,944 hispanic/latino ancestry women//1,764 hispanic/latino ancestry men; 21,496 european ancestry women//24,385 european ancestry men//118,364 european ancestry individuals//2,326 african american/afro-caribbean ancestry women//855 african american/afro-caribbean ancestry men EFO_0001073 adjusted for smoking behaviour Associate Bmi (adjusted for smoking behaviour) rs10182181-A of NONHSAT186760.1 is significantly associated with the bmi (adjusted for smoking behaviour) by using GWAS analysis in 98,173 european ancestry women//64,373 european ancestry men//5,829 european ancestry individuals//10,500 african american/afro-caribbean ancestry women//2,706 african american/afro-caribbean ancestry men//1,030 indian asian ancestry women//7,648 indian asian ancestry men//1,793 filipino ancestry women//2,944 hispanic/latino ancestry women//1,764 hispanic/latino ancestry men; 21,496 european ancestry women//24,385 european ancestry men//118,364 european ancestry individuals//2,326 african american/afro-caribbean ancestry women//855 african american/afro-caribbean ancestry men(p-value = 2E-12 ;OR = 0.0329). 0.4 Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. NCRV0000001291 27225129 NONHSAT089767.2 rs11130222 A N/A 405,072 european ancestry individuals EFO_0004784 N/A Associate Educational attainment (years of education) rs11130222-A of NONHSAT089767.2 is significantly associated with the educational attainment (years of education) by using GWAS analysis in 405,072 european ancestry individuals(p-value = 4E-28 ;OR = 0.024812652). 0.4 Genome-wide association study identifies 74 loci associated with educational attainment. NCRV0000001504 28928442 NONHSAT163505.1 rs116949241 ? N/A 40,600 european ancestry cases//90,039 european ancestry controls EFO_0008410 N/A Associate Pneumonia rs116949241-? of NONHSAT163505.1 is significantly associated with the pneumonia by using GWAS analysis in 40,600 european ancestry cases//90,039 european ancestry controls(p-value = 6E-6 ;OR = 0.1262). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. NCRV0000003936 28158719 NONHSAT197521.1 rs4328821 A N/A up to 11,809 hispanic/latino american individuals; up to 7,200 hispanic/latino american individuals EFO_0004842 N/A Associate White blood cell count (eosinophil) rs4328821-A of NONHSAT197521.1 is significantly associated with the white blood cell count (eosinophil) by using GWAS analysis in up to 11,809 hispanic/latino american individuals; up to 7,200 hispanic/latino american individuals(p-value = 1E-8 ;OR = 0.06). 0.4 Genome-wide association of white blood cell counts in Hispanic/Latino Americans: the Hispanic Community Health Study/Study of Latinos. NCRV0000002305 25918132 NONHSAT177563.1 rs78788148 A N/A 74 european ancestry cases//824 european ancestry controls EFO_0000270 N/A Associate Diisocyanate-induced asthma rs78788148-A of NONHSAT177563.1 is significantly associated with the diisocyanate-induced asthma by using GWAS analysis in 74 european ancestry cases//824 european ancestry controls(p-value = 2E-6 ;OR = 15.23). 0.4 Genome-Wide Association Study Identifies Novel Loci Associated With Diisocyanate-Induced Occupational Asthma. NCRV0000002668 24204828 NONHSAT107061.2 rs9391988 A N/A 820 european ancestry individuals EFO_0001360 dietary factor interaction Associate Fasting insulin (dietary factor interaction) rs9391988-A of NONHSAT107061.2 is significantly associated with the fasting insulin (dietary factor interaction) by using GWAS analysis in 820 european ancestry individuals(p-value = 2E-6 ;OR = ?). 0.4 Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits. NCRV0000000283 27143689 NONHSAT068889.2 rs17815605 ? N/A 50 european ancestry cases with neuropathy//573 european ancestry cases without neuropathy EFO_0003100 Docetaxel-induced Associate Docetaxel-induced peripheral neuropathy in metastatic castrate-resistant prostate cancer rs17815605-? of NONHSAT068889.2 is significantly associated with the docetaxel-induced peripheral neuropathy in metastatic castrate-resistant prostate cancer by using GWAS analysis in 50 european ancestry cases with neuropathy//573 european ancestry cases without neuropathy(p-value = 6E-6 ;OR = 2.886). 0.4 Pharmacogenetic Discovery in CALGB (Alliance) 90401 and Mechanistic Validation of a VAC14 Polymorphism that Increases Risk of Docetaxel-Induced Neuropathy. NCRV0000000826 28054174 NONHSAT154533.1 rs12070337 ? N/A 83 asian ancestry cases//1,445 asian ancestry case-parent trios//161 asian ancestry controls//208 european ancestry cases//1,284 european ancestry case-parent trios//835 european ancestry controls//610 latino or african cases//663 latino or african case-parent trios//704 latino or african controls//35 case-parent trios. MONDO_0000358 N/A Associate Orofacial clefts rs12070337-? of NONHSAT154533.1 is significantly associated with the orofacial clefts by using GWAS analysis in 83 asian ancestry cases//1,445 asian ancestry case-parent trios//161 asian ancestry controls//208 european ancestry cases//1,284 european ancestry case-parent trios//835 european ancestry controls//610 latino or african cases//663 latino or african case-parent trios//704 latino or african controls//35 case-parent trios.(p-value = 6E-12 ;OR = 1.4705882). 0.4 Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate. NCRV0000003332 23534349 NONHSAT204520.1 rs6861497 A N/A 455 african american individuals EFO_0003777 N/A Associate Qrs duration rs6861497-A of NONHSAT204520.1 is significantly associated with the qrs duration by using GWAS analysis in 455 african american individuals(p-value = 5E-6 ;OR = 2.34). 0.4 Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans. NCRV0000002400 29228715 NONHSAT102742.2 rs13355819 ? N/A 978 austrian ancestry colorectal cancer cases//636 austrian ancestry advanced colorectal adenoma cases//4,294 european ancestry controls EFO_0005842 N/A Associate Colorectal cancer rs13355819-? of NONHSAT102742.2 is significantly associated with the colorectal cancer by using GWAS analysis in 978 austrian ancestry colorectal cancer cases//636 austrian ancestry advanced colorectal adenoma cases//4,294 european ancestry controls(p-value = 5E-6 ;OR = 1.2425448). 0.4 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas. NCRV0000001400 28525603 NONHSAT154474.1 rs7513165 ? N/A 3,967 finnish ancestry individuals EFO_0005407 N/A Associate Psychosis proneness (hypomanic personality scale and perceptual aberration scale) rs7513165-? of NONHSAT154474.1 is significantly associated with the psychosis proneness (hypomanic personality scale and perceptual aberration scale) by using GWAS analysis in 3,967 finnish ancestry individuals(p-value = 2E-6 ;OR = ?). 0.4 Genome-Wide Association Study of Psychosis Proneness in the Finnish Population. NCRV0000001352 27089181 NONHSAT177677.1 rs12961969 A N/A 170,911 european ancestry individuals EFO_0007660 N/A Associate Neuroticism rs12961969-A of NONHSAT177677.1 is significantly associated with the neuroticism by using GWAS analysis in 170,911 european ancestry individuals(p-value = 2E-8 ;OR = 0.024998885). 0.4 Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses. NCRV0000003821 26634245 NONHSAT047568.2 rs7174348 A N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs7174348-A of NONHSAT047568.2 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 8E-8 ;OR = 0.062). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000003222 23028342 NONHSAT128492.2 rs4871297 A N/A up to 2,916 european ancestry type 1 diabetes cases with nephropathy//3,315 european ancestry type 1 diabetes cases without nephropathy; up to 1,493 european ancestry type 1 diabetes cases with nephropathy//3,191 european ancestry type 1 diabetes cases without nephropathy EFO_0004996 N/A Associate Type 1 diabetes nephropathy rs4871297-A of NONHSAT128492.2 is significantly associated with the type 1 diabetes nephropathy by using GWAS analysis in up to 2,916 european ancestry type 1 diabetes cases with nephropathy//3,315 european ancestry type 1 diabetes cases without nephropathy; up to 1,493 european ancestry type 1 diabetes cases with nephropathy//3,191 european ancestry type 1 diabetes cases without nephropathy(p-value = 2E-6 ;OR = 1.23). 0.4 New susceptibility loci associated with kidney disease in type 1 diabetes. NCRV0000001219 27659466 NONHSAT151298.1 rs2997447 ? N/A up to 47,942 european ancestry individuals//up to 690 orcadian (founder/genetic isolate) individuals; 13,263 european ancestry individuals//3,603 african american individuals//4,619 indian ancestry individuals EFO_0003777 N/A Associate Qrs complex (12-leadsum) rs2997447-? of NONHSAT151298.1 is significantly associated with the qrs complex (12-leadsum) by using GWAS analysis in up to 47,942 european ancestry individuals//up to 690 orcadian (founder/genetic isolate) individuals; 13,263 european ancestry individuals//3,603 african american individuals//4,619 indian ancestry individuals(p-value = 2E-8 ;OR = ?). 0.4 52 Genetic Loci Influencing Myocardial Mass. NCRV0000000859 24390342 NONHSAT062856.2 rs77331626 G N/A up to 14,361 european ancestry cases//up to 42,923 european ancestry controls//up to 4,873 east asian ancestry cases//up to 17,642 east asian ancestry controls; up to 3,775 european ancestry cases//up to 5,801 european ancestry controls//up to 6,871 east asian ancestry cases//up to 6,392 east asian ancestry controls EFO_0000685 N/A Associate Rheumatoid arthritis rs77331626-G of NONHSAT062856.2 is significantly associated with the rheumatoid arthritis by using GWAS analysis in up to 14,361 european ancestry cases//up to 42,923 european ancestry controls//up to 4,873 east asian ancestry cases//up to 17,642 east asian ancestry controls; up to 3,775 european ancestry cases//up to 5,801 european ancestry controls//up to 6,871 east asian ancestry cases//up to 6,392 east asian ancestry controls(p-value = 7E-24 ;OR = 1.21). 0.4 Genetics of rheumatoid arthritis contributes to biology and drug discovery. NCRV0000002014 25886283 NONHSAT168939.1 rs4905994 T N/A 2,317 european ancestry children//1,283 african american ancestry children EFO_0004845 N/A Associate Magnesium levels rs4905994-T of NONHSAT168939.1 is significantly associated with the magnesium levels by using GWAS analysis in 2,317 european ancestry children//1,283 african american ancestry children(p-value = 4E-6 ;OR = 0.0234). 0.4 Genome-wide association study of serum minerals levels in children of different ethnic background. NCRV0000000862 21909110 NONHSAT159899.1 rs11222084 T N/A 74,064 european ancestry individuals; 48,607 european ancestry individuals EFO_0005763 N/A Associate Blood pressure rs11222084-T of NONHSAT159899.1 is significantly associated with the blood pressure by using GWAS analysis in 74,064 european ancestry individuals; 48,607 european ancestry individuals(p-value = 2E-11 ;OR = 0.337). 0.4 Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. NCRV0000002439 26580837 NONHSAT059838.2 rs9953769 G N/A 94 taiwanese han ancestry cases//376 taiwanese han ancestry controls EFO_0000253 N/A Associate Amyotrophic lateral sclerosis rs9953769-G of NONHSAT059838.2 is significantly associated with the amyotrophic lateral sclerosis by using GWAS analysis in 94 taiwanese han ancestry cases//376 taiwanese han ancestry controls(p-value = 9E-6 ;OR = 2.533). 0.4 A genome-wide association study on amyotrophic lateral sclerosis in the Taiwanese Han population. NCRV0000003748 23259602 NONHSAT149446.1 rs1571500 ? N/A 1,483 european ancestry comparatively younger individuals//5,960 european ancestry comparatively older individuals EFO_0003819 N/A Associate Dental caries rs1571500-? of NONHSAT149446.1 is significantly associated with the dental caries by using GWAS analysis in 1,483 european ancestry comparatively younger individuals//5,960 european ancestry comparatively older individuals(p-value = 2E-6 ;OR = ?). 0.4 Genome-wide association scan of dental caries in the permanent dentition. NCRV0000001861 27846195 NONHSAT221902.1 rs202106186 ? N/A 1,390 european ancestry individuals EFO_0000692 paliperidone Associate Response to paliperidone in schizophrenia (multivariate) rs202106186-? of NONHSAT221902.1 is significantly associated with the response to paliperidone in schizophrenia (multivariate) by using GWAS analysis in 1,390 european ancestry individuals(p-value = 9E-6 ;OR = ?). 0.4 Genome-wide association study of paliperidone efficacy. NCRV0000003705 22863734 NONHSAT197280.1 rs7632427 T N/A up to 666 european ancestry trios//399 european ancestry cases//1,318 european ancestry controls; up to 795 east asian ancestry trios MONDO_0000358 N/A Associate Orofacial clefts rs7632427-T of NONHSAT197280.1 is significantly associated with the orofacial clefts by using GWAS analysis in up to 666 european ancestry trios//399 european ancestry cases//1,318 european ancestry controls; up to 795 east asian ancestry trios(p-value = 4E-8 ;OR = 1.37). 0.4 Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci. NCRV0000001614 25241763 NONHSAT195991.1 rs2623325 A N/A 18,963 european ancestry individuals//2,131 erasmus rucphen individuals; 2,453 chinese ancestry individuals//2,026 indian ancestry individuals//2,305 malay ancestry individuals EFO_0004832 N/A Associate Vertical cup-disc ratio rs2623325-A of NONHSAT195991.1 is significantly associated with the vertical cup-disc ratio by using GWAS analysis in 18,963 european ancestry individuals//2,131 erasmus rucphen individuals; 2,453 chinese ancestry individuals//2,026 indian ancestry individuals//2,305 malay ancestry individuals(p-value = 7E-10 ;OR = 0.016). 0.4 Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process. NCRV0000002122 23563607 NONHSAT168677.1 rs7141420 T N/A 93,015 european ancestry overweight individuals//32,858 european ancestry class i obese individuals//9,889 european ancestry class ii obese individuals//2,896 european ancestry class iii obese individuals//up to 65,840 european ancestry controls; 65,332 european ancestry overweight individuals//22,373 european ancestry class i obese individuals//5,476 european ancestry class ii obese individuals//1,162 european ancestry class iii obese individuals//up to 39,294 european ancestry controls EFO_0001073 N/A Associate Obesity rs7141420-T of NONHSAT168677.1 is significantly associated with the obesity by using GWAS analysis in 93,015 european ancestry overweight individuals//32,858 european ancestry class i obese individuals//9,889 european ancestry class ii obese individuals//2,896 european ancestry class iii obese individuals//up to 65,840 european ancestry controls; 65,332 european ancestry overweight individuals//22,373 european ancestry class i obese individuals//5,476 european ancestry class ii obese individuals//1,162 european ancestry class iii obese individuals//up to 39,294 european ancestry controls(p-value = 1E-17 ;OR = 1.08). 0.4 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. NCRV0000003023 26634245 NONHSAT161455.1 rs17368814 A N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs17368814-A of NONHSAT161455.1 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 3E-6 ;OR = 0.07). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000003858 19414484 NONHSAT161941.1 rs4149056 C N/A 9,464 individuals EFO_0004570 N/A Associate Bilirubin levels rs4149056-C of NONHSAT161941.1 is significantly associated with the bilirubin levels by using GWAS analysis in 9,464 individuals(p-value = 7E-13 ;OR = 0.05). 0.4 Genome-wide association meta-analysis for total serum bilirubin levels. NCRV0000002986 27863252 NONHSAT004978.2 rs828999 A N/A 170,494 european ancestry individuals EFO_0007989 N/A Associate Monocyte percentage of white cells rs828999-A of NONHSAT004978.2 is significantly associated with the monocyte percentage of white cells by using GWAS analysis in 170,494 european ancestry individuals(p-value = 6E-9 ;OR = 0.02076806). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003814 23648065 NONHSAT181389.1 rs4666360 C N/A 218 japanese ancestry cases//364 japanese controls DOID_615 paclitaxel Associate Adverse response to chemotherapy (neutropenia/leucopenia) rs4666360-C of NONHSAT181389.1 is significantly associated with the adverse response to chemotherapy (neutropenia/leucopenia) by using GWAS analysis in 218 japanese ancestry cases//364 japanese controls(p-value = 3E-6 ;OR = 2.136). 0.4 Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan. NCRV0000000807 22005930 NONHSAT161356.1 rs10792830 ? N/A 1,039 european ancestry cases with psychosis//5,659 european ancestry controls//260 european//african american and native american ancestry cases with psychosis from 264 families EFO_0005407 N/A Associate Psychosis rs10792830-? of NONHSAT161356.1 is significantly associated with the psychosis by using GWAS analysis in 1,039 european ancestry cases with psychosis//5,659 european ancestry controls//260 european//african american and native american ancestry cases with psychosis from 264 families(p-value = 6E-6 ;OR = 1.25). 0.4 Genome-wide association study of Alzheimer's disease with psychotic symptoms. NCRV0000002181 21490949 NONHSAT171804.1 rs7119 T N/A 2,010 chinese ancestry cases//1,945 chinese ancestry controls//794 malay ancestry cases//1,240 malay ancestry controls//977 asian indian ancestry cases//1,169 asian indian ancestry controls EFO_0001360 N/A Associate Type 2 diabetes rs7119-T of NONHSAT171804.1 is significantly associated with the type 2 diabetes by using GWAS analysis in 2,010 chinese ancestry cases//1,945 chinese ancestry controls//794 malay ancestry cases//1,240 malay ancestry controls//977 asian indian ancestry cases//1,169 asian indian ancestry controls(p-value = 5E-7 ;OR = 1.24). 0.4 Transferability of type 2 diabetes implicated loci in multi-ethnic cohorts from Southeast Asia. NCRV0000003127 25387704 NONHSAT223629.1 rs5969978 ? N/A 2,383 european ancestry adolescents and 1,643 european ancestry adults from 1,613 families EFO_0000677 N/A Associate Electroencephalogram traits rs5969978-? of NONHSAT223629.1 is significantly associated with the electroencephalogram traits by using GWAS analysis in 2,383 european ancestry adolescents and 1,643 european ancestry adults from 1,613 families(p-value = 4E-6 ;OR = 0.064). 0.4 Heritability and molecular-genetic basis of resting EEG activity: a genome-wide association study. NCRV0000002471 25673412 NONHSAT105096.2 rs4868125 C N/A up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women EFO_0007789 N/A Associate Waist circumference adjusted for body mass index rs4868125-C of NONHSAT105096.2 is significantly associated with the waist circumference adjusted for body mass index by using GWAS analysis in up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women(p-value = 3E-9 ;OR = 0.0215). 0.4 New genetic loci link adipose and insulin biology to body fat distribution. NCRV0000003747 26198764 NONHSAT202647.1 rs4391122 G N/A 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls EFO_0000692 N/A Associate Schizophrenia rs4391122-G of NONHSAT202647.1 is significantly associated with the schizophrenia by using GWAS analysis in 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls(p-value = 2E-13 ;OR = 1.0869565). 0.4 Genome-wide association study of schizophrenia in Ashkenazi Jews. NCRV0000003671 25886283 NONHSAT096937.2 rs6838240 C N/A 2,317 european ancestry children//1,283 african american ancestry children EFO_0004845 N/A Associate Magnesium levels rs6838240-C of NONHSAT096937.2 is significantly associated with the magnesium levels by using GWAS analysis in 2,317 european ancestry children//1,283 african american ancestry children(p-value = 2E-6 ;OR = 0.0372). 0.4 Genome-wide association study of serum minerals levels in children of different ethnic background. NCRV0000001085 28135244 NONHSAT098683.2 rs78049276 C N/A 140,886 european ancestry individuals; 190,318 european ancestry individuals EFO_0005763 N/A Associate Pulse pressure rs78049276-C of NONHSAT098683.2 is significantly associated with the pulse pressure by using GWAS analysis in 140,886 european ancestry individuals; 190,318 european ancestry individuals(p-value = 1E-8 ;OR = 0.2668). 0.4 Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk. NCRV0000001713 27863252 NONHSAT202777.1 rs2928166 C N/A 173,039 european ancestry individuals EFO_0004348 N/A Associate Hematocrit rs2928166-C of NONHSAT202777.1 is significantly associated with the hematocrit by using GWAS analysis in 173,039 european ancestry individuals(p-value = 1E-11 ;OR = 0.03604599). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002205 27082954 NONHSAT208428.1 rs9356334 ? N/A 104 european ancestry cases//1,519 european ancestry controls//34 african american cases//520 african american controls EFO_0004265 traffic-related air pollution interaction Associate Peripheral arterial disease (traffic-related air pollution interaction) rs9356334-? of NONHSAT208428.1 is significantly associated with the peripheral arterial disease (traffic-related air pollution interaction) by using GWAS analysis in 104 european ancestry cases//1,519 european ancestry controls//34 african american cases//520 african american controls(p-value = 7E-7 ;OR = 87.33). 0.4 Genetic Variants in the Bone Morphogenic Protein Gene Family Modify the Association between Residential Exposure to Traffic and Peripheral Arterial Disease. NCRV0000003791 25673412 NONHSAT162935.1 rs1809889 T N/A up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women EFO_0005093 adjusted for BMI Associate Hip circumference adjusted for bmi rs1809889-T of NONHSAT162935.1 is significantly associated with the hip circumference adjusted for bmi by using GWAS analysis in up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women(p-value = 2E-8 ;OR = 0.023). 0.4 New genetic loci link adipose and insulin biology to body fat distribution. NCRV0000001816 21926974 NONHSAT179116.1 rs12966547 G N/A 9,394 european ancestry cases//12,462 european ancestry controls; 8,442 european ancestry cases//21,397 european ancestry controls EFO_0000692 N/A Associate Schizophrenia rs12966547-G of NONHSAT179116.1 is significantly associated with the schizophrenia by using GWAS analysis in 9,394 european ancestry cases//12,462 european ancestry controls; 8,442 european ancestry cases//21,397 european ancestry controls(p-value = 3E-8 ;OR = 1.4). 0.4 Genome-wide association study identifies five new schizophrenia loci. NCRV0000000806 27863252 NONHSAT152395.1 rs1050316 T N/A 166,066 european ancestry individuals EFO_0004309 N/A Associate Platelet count rs1050316-T of NONHSAT152395.1 is significantly associated with the platelet count by using GWAS analysis in 166,066 european ancestry individuals(p-value = 4E-11 ;OR = 0.02540854). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002122 28448500 NONHSAT168677.1 rs7141420 T N/A 2,518 african american women//86,278 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//55,137 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men EFO_0001073 joint analysis main effects and physical activity interaction Associate Body mass index rs7141420-T of NONHSAT168677.1 is significantly associated with the body mass index by using GWAS analysis in 2,518 african american women//86,278 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//55,137 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men(p-value = 1E-10 ;OR = 0.0241). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. NCRV0000000768 28877031 NONHSAT001478.2 rs56318008 T N/A 43,568 european ancestry mothers; 8,643 european ancestry mothers EFO_0005112 N/A Associate Gestational age at birth (maternal effect) rs56318008-T of NONHSAT001478.2 is significantly associated with the gestational age at birth (maternal effect) by using GWAS analysis in 43,568 european ancestry mothers; 8,643 european ancestry mothers(p-value = 3E-14 ;OR = 1.05). 0.4 Genetic Associations with Gestational Duration and Spontaneous Preterm Birth. NCRV0000003256 27670397 NONHSAT184420.1 rs12464483 A N/A 148 european ancestry cases//810 european ancestry controls; 58 european ancestry cases//352 european ancestry controls EFO_0003843 N/A Associate Pre-treatment pain in head and neck squamous cell carcinoma rs12464483-A of NONHSAT184420.1 is significantly associated with the pre-treatment pain in head and neck squamous cell carcinoma by using GWAS analysis in 148 european ancestry cases//810 european ancestry controls; 58 european ancestry cases//352 european ancestry controls(p-value = 2E-6 ;OR = 1.7). 0.4 Genome-wide association study suggests common variants within RP11-634B7.4 gene influencing severe pre-treatment pain in head and neck cancer patients. NCRV0000001562 26301688 NONHSAT067101.2 rs602662 G N/A 97 european ancestry thyroiditis cases//107 european ancestry ankylosing spondylitis cases//100 european ancestry psoriasis cases//173 european ancestry celiac disease cases//254 european ancestry systemic lupus erythematosus cases//308 european ancestry common variable inmunodeficiency cases//865 european ancestry ulcerative colitis cases//1,086 european ancestry type 1 diabetes cases//1,123 european ancestry juvenile idiopathic arthritis cases//1,922 european ancestry crohn's disease cases//10,718 european ancestry controls EFO_0000540 N/A Associate Pediatric autoimmune diseases rs602662-G of NONHSAT067101.2 is significantly associated with the pediatric autoimmune diseases by using GWAS analysis in 97 european ancestry thyroiditis cases//107 european ancestry ankylosing spondylitis cases//100 european ancestry psoriasis cases//173 european ancestry celiac disease cases//254 european ancestry systemic lupus erythematosus cases//308 european ancestry common variable inmunodeficiency cases//865 european ancestry ulcerative colitis cases//1,086 european ancestry type 1 diabetes cases//1,123 european ancestry juvenile idiopathic arthritis cases//1,922 european ancestry crohn's disease cases//10,718 european ancestry controls(p-value = 5E-8 ;OR = ?). 0.4 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases. NCRV0000003733 22004471 NONHSAT197005.1 rs9825310 ? N/A 1,333 european ancestry male cases//2,168 european ancestry male controls EFO_0003829 N/A Associate Alcohol dependence rs9825310-? of NONHSAT197005.1 is significantly associated with the alcohol dependence by using GWAS analysis in 1,333 european ancestry male cases//2,168 european ancestry male controls(p-value = 8E-6 ;OR = 1.25). 0.4 Genome-wide significant association between alcohol dependence and a variant in the ADH gene cluster. NCRV0000000836 27182965 NONHSAT175472.1 rs6504249 ? N/A 64,143 european ancestry individuals EFO_0007905 N/A Associate Joint mobility (beighton score) rs6504249-? of NONHSAT175472.1 is significantly associated with the joint mobility (beighton score) by using GWAS analysis in 64,143 european ancestry individuals(p-value = 9E-9 ;OR = 0.072). 0.4 Detection and interpretation of shared genetic influences on 42 human traits. NCRV0000000744 23128233 NONHSAT210327.1 rs12663356 C N/A up to 12,924 european ancestry cases//up to 21,442 european ancestry controls; up to 25,683 european ancestry cases//up to 17,015 european ancestry controls EFO_0000384 N/A Associate Crohn's disease rs12663356-C of NONHSAT210327.1 is significantly associated with the crohn's disease by using GWAS analysis in up to 12,924 european ancestry cases//up to 21,442 european ancestry controls; up to 25,683 european ancestry cases//up to 17,015 european ancestry controls(p-value = 4E-12 ;OR = 1.095). 0.4 Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. NCRV0000002576 27863252 NONHSAT026062.2 rs12296430 C N/A 171,542 european ancestry individuals EFO_0007990 N/A Associate Neutrophil percentage of white cells rs12296430-C of NONHSAT026062.2 is significantly associated with the neutrophil percentage of white cells by using GWAS analysis in 171,542 european ancestry individuals(p-value = 3E-20 ;OR = 0.04239733). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001733 27863252 NONHSAT026062.2 rs12296430 C N/A 171,748 european ancestry individuals EFO_0007993 N/A Associate Lymphocyte percentage of white cells rs12296430-C of NONHSAT026062.2 is significantly associated with the lymphocyte percentage of white cells by using GWAS analysis in 171,748 european ancestry individuals(p-value = 8E-24 ;OR = 0.0462941). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000877 22267201 NONHSAT160186.1 rs12294104 T N/A 38,968 european ancestry female individuals; up to 14,435 european ancestry female individuals EFO_0004704 N/A Associate Menopause (age at onset) rs12294104-T of NONHSAT160186.1 is significantly associated with the menopause (age at onset) by using GWAS analysis in 38,968 european ancestry female individuals; up to 14,435 european ancestry female individuals(p-value = 1E-11 ;OR = 0.225). 0.4 Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. NCRV0000001884 27863252 NONHSAT130003.2 rs369552432 A N/A 173,039 european ancestry individuals EFO_0004348 N/A Associate Hematocrit rs369552432-A of NONHSAT130003.2 is significantly associated with the hematocrit by using GWAS analysis in 173,039 european ancestry individuals(p-value = 1E-10 ;OR = 0.02465845). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001455 28165464 NONHSAT180671.1 rs7254272 A N/A 4,478 european ancestry cases and 13,213 european ancestry controls.; 1,722 european ancestry cases and 4,385 european ancestry controls. EFO_0000095 N/A Associate Chronic lymphocytic leukemia rs7254272-A of NONHSAT180671.1 is significantly associated with the chronic lymphocytic leukemia by using GWAS analysis in 4,478 european ancestry cases and 13,213 european ancestry controls.; 1,722 european ancestry cases and 4,385 european ancestry controls.(p-value = 5E-8 ;OR = 1.17). 0.4 Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia. NCRV0000002256 27989323 NONHSAT206588.1 rs6900267 C N/A 3,522 finnish ancestry individuals EFO_0005140 N/A Associate Macrophage inflammatory protein 1a levels rs6900267-C of NONHSAT206588.1 is significantly associated with the macrophage inflammatory protein 1a levels by using GWAS analysis in 3,522 finnish ancestry individuals(p-value = 3E-6 ;OR = 0.2429). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. NCRV0000002842 27989323 NONHSAT193299.1 rs2027855 C N/A 8,153 finnish ancestry individuals EFO_0008122 N/A Associate Eotaxin levels rs2027855-C of NONHSAT193299.1 is significantly associated with the eotaxin levels by using GWAS analysis in 8,153 finnish ancestry individuals(p-value = 5E-6 ;OR = 0.0736). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. NCRV0000001194 25574825 NONHSAT189171.1 rs909341 G N/A 2,079 european ancestry cases//3,867 european ancestry controls EFO_0000274 N/A Associate Atopic dermatitis rs909341-G of NONHSAT189171.1 is significantly associated with the atopic dermatitis by using GWAS analysis in 2,079 european ancestry cases//3,867 european ancestry controls(p-value = 8E-10 ;OR = 1.316). 0.4 Genome-wide comparative analysis of atopic dermatitis and psoriasis gives insight into opposing genetic mechanisms. NCRV0000000082 28714975 NONHSAT115003.2 rs12202017 A N/A 18,467 european and unknown ancestry cases//45,264 european and unknown ancestry controls; 57,347 european and unknown ancestry cases//219,521 european and unknown ancestry controls EFO_0000378 N/A Associate Coronary artery disease (myocardial infartum//percutaneous transluminal coronary angioplasty//coronary artery bypass grafting//angina or chromic ischemic heart disease) rs12202017-A of NONHSAT115003.2 is significantly associated with the coronary artery disease (myocardial infartum//percutaneous transluminal coronary angioplasty//coronary artery bypass grafting//angina or chromic ischemic heart disease) by using GWAS analysis in 18,467 european and unknown ancestry cases//45,264 european and unknown ancestry controls; 57,347 european and unknown ancestry cases//219,521 european and unknown ancestry controls(p-value = 6E-14 ;OR = 1.07). 0.4 Association analyses based on false discovery rate implicate new loci for coronary artery disease. NCRV0000000191 29059683 NONHSAT158558.1 rs1696803 C N/A 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls EFO_0000305 N/A Associate Breast cancer rs1696803-C of NONHSAT158558.1 is significantly associated with the breast cancer by using GWAS analysis in 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls(p-value = 2E-45 ;OR = 0.116). 0.4 Association analysis identifies 65 new breast cancer risk loci. NCRV0000002507 20881960 NONHSAT218002.1 rs1013209 T N/A 133,653 european ancestry individuals; 50,074 european ancestry individuals EFO_0004339 N/A Associate Height rs1013209-T of NONHSAT218002.1 is significantly associated with the height by using GWAS analysis in 133,653 european ancestry individuals; 50,074 european ancestry individuals(p-value = 2E-9 ;OR = 0.025). 0.4 Hundreds of variants clustered in genomic loci and biological pathways affect human height. NCRV0000003129 26034056 NONHSAT216393.1 rs72725879 T N/A 6,406 european ancestry cases//601 african american cases//288 east asian ancestry cases//488 latino cases30,866 european ancestry controls//1,650 african american controls//2,938 east asian ancestry controls//3,141 latino controls; 4,599 european ancestry cases//2,265 african american cases//2,940 european ancestry controls//2,414 african american controls EFO_0001663 N/A Associate Prostate cancer rs72725879-T of NONHSAT216393.1 is significantly associated with the prostate cancer by using GWAS analysis in 6,406 european ancestry cases//601 african american cases//288 east asian ancestry cases//488 latino cases30,866 european ancestry controls//1,650 african american controls//2,938 east asian ancestry controls//3,141 latino controls; 4,599 european ancestry cases//2,265 african american cases//2,940 european ancestry controls//2,414 african american controls(p-value = 3E-8 ;OR = 1.92). 0.4 A large multiethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences. NCRV0000001395 21685187 NONHSAT166455.1 rs9552733 G N/A 1,907 european ancestry former smoker cases//1,164 european ancestry current smoker cases EFO_0004319 N/A Associate Smoking cessation in chronic obstructive pulmonary disease rs9552733-G of NONHSAT166455.1 is significantly associated with the smoking cessation in chronic obstructive pulmonary disease by using GWAS analysis in 1,907 european ancestry former smoker cases//1,164 european ancestry current smoker cases(p-value = 6E-6 ;OR = 1.29). 0.4 Genome-wide association study of smoking behaviours in patients with COPD. NCRV0000000477 27494321 NONHSAT179141.1 rs9961653 T N/A 127,898 british individuals; 89,283 individuals EFO_0004354 N/A Associate Chronotype rs9961653-T of NONHSAT179141.1 is significantly associated with the chronotype by using GWAS analysis in 127,898 british individuals; 89,283 individuals(p-value = 7E-10 ;OR = 0.023). 0.4 Genome-Wide Association Analyses in 128,266 Individuals Identifies New Morningness and Sleep Duration Loci. NCRV0000000469 26634245 NONHSAT213312.1 rs730954 A N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs730954-A of NONHSAT213312.1 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 2E-6 ;OR = 0.02). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000001393 25056061 NONHSAT159668.1 rs2514218 C N/A 32,405 european ancestry cases//42,221 european ancestry controls//1,235 european ancestry cases and 1,235 european ancestry controls from 1235 parent-offspring trios//1,836 east asian ancestry cases//3,383 east asian ancestry controls; 1,513 european ancestry cases//66,236 european ancestry controls EFO_0000692 N/A Associate Schizophrenia rs2514218-C of NONHSAT159668.1 is significantly associated with the schizophrenia by using GWAS analysis in 32,405 european ancestry cases//42,221 european ancestry controls//1,235 european ancestry cases and 1,235 european ancestry controls from 1235 parent-offspring trios//1,836 east asian ancestry cases//3,383 east asian ancestry controls; 1,513 european ancestry cases//66,236 european ancestry controls(p-value = 3E-11 ;OR = 1.0787487). 0.4 Biological insights from 108 schizophrenia-associated genetic loci. NCRV0000002883 23382691 NONHSAT118953.2 rs308097 G N/A 2,247 european ancestry individuals EFO_0002690 N/A Associate Igg glycosylation rs308097-G of NONHSAT118953.2 is significantly associated with the igg glycosylation by using GWAS analysis in 2,247 european ancestry individuals(p-value = 2E-6 ;OR = 0.4299). 0.4 Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. NCRV0000001206 23049088 NONHSAT157521.1 rs1472750 ? N/A 187 european ancestry cases//1064 european ancestry controls; EFO_0004207 N/A Associate Myopia (pathological) rs1472750-? of NONHSAT157521.1 is significantly associated with the myopia (pathological) by using GWAS analysis in 187 european ancestry cases//1064 european ancestry controls; (p-value = 5E-9 ;OR = ?). 0.4 A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population. NCRV0000001086 27863252 NONHSAT056142.2 rs4789452 A N/A 170,763 european ancestry individuals EFO_0007986 N/A Associate High light scatter reticulocyte count rs4789452-A of NONHSAT056142.2 is significantly associated with the high light scatter reticulocyte count by using GWAS analysis in 170,763 european ancestry individuals(p-value = 5E-15 ;OR = 0.02808327). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003403 27989323 NONHSAT150608.1 rs3002131 G N/A 7,681 finnish ancestry individuals EFO_0005140 N/A Associate Interleukin-10 levels rs3002131-G of NONHSAT150608.1 is significantly associated with the interleukin-10 levels by using GWAS analysis in 7,681 finnish ancestry individuals(p-value = 5E-6 ;OR = 0.1182). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. NCRV0000000085 29117387 NONHSAT166293.1 rs75823044 T N/A 5,454 african american cases//474 west african cases//4,274 african american and african ancestry cases//6,328 african american controls//458 west african controls//4,024 african american and african ancestry controls EFO_0001663 N/A Associate Prostate cancer rs75823044-T of NONHSAT166293.1 is significantly associated with the prostate cancer by using GWAS analysis in 5,454 african american cases//474 west african cases//4,274 african american and african ancestry cases//6,328 african american controls//458 west african controls//4,024 african american and african ancestry controls(p-value = 6E-12 ;OR = 1.55). 0.4 Two Novel Susceptibility Loci for Prostate Cancer in Men of African Ancestry.LID - 10.1093/jnci/djx084 [doi]AB - Prostate cancer incidence is 1.6-fold higher in African Americans than in other populations. The risk factors that drive this dispa NCRV0000001874 19430482 NONHSAT140921.2 rs12917707 T N/A 2,388 european ancestry cases//17,489 european ancestry controls; 1,932 cases//19,534 controls EFO_0003884 N/A Associate Renal function and chronic kidney disease rs12917707-T of NONHSAT140921.2 is significantly associated with the renal function and chronic kidney disease by using GWAS analysis in 2,388 european ancestry cases//17,489 european ancestry controls; 1,932 cases//19,534 controls(p-value = 5E-16 ;OR = 0.02). 0.4 Multiple loci associated with indices of renal function and chronic kidney disease. NCRV0000003253 24684796 NONHSAT211829.1 rs7800418 T N/A 423 type 2 diabetes cases and 127 unaffected siblings from 257 families EFO_0003925 N/A Associate Cognitive function rs7800418-T of NONHSAT211829.1 is significantly associated with the cognitive function by using GWAS analysis in 423 type 2 diabetes cases and 127 unaffected siblings from 257 families(p-value = 7E-7 ;OR = 1.9628). 0.4 Heritability and genetic association analysis of cognition in the Diabetes Heart Study. NCRV0000002402 27863252 NONHSAT153273.1 rs59072704 C N/A 170,721 european ancestry individuals EFO_0005091 N/A Associate Monocyte count rs59072704-C of NONHSAT153273.1 is significantly associated with the monocyte count by using GWAS analysis in 170,721 european ancestry individuals(p-value = 1E-9 ;OR = 0.03162561). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001948 28199695 NONHSAT200344.1 rs75583553 ? N/A 84,724 european ancestry individuals EFO_0008378 N/A Associate Mosquito bite size rs75583553-? of NONHSAT200344.1 is significantly associated with the mosquito bite size by using GWAS analysis in 84,724 european ancestry individuals(p-value = 4E-6 ;OR = 0.0256056). 0.4 GWAS of self-reported mosquito bite size, itch intensity and attractiveness to mosquitoes implicates immune-related predisposition loci. NCRV0000001773 25673413 NONHSAT141865.2 rs9925964 A N/A up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals EFO_0001073 N/A Associate Body mass index rs9925964-A of NONHSAT141865.2 is significantly associated with the body mass index by using GWAS analysis in up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals(p-value = 2E-6 ;OR = 0.02). 0.4 Genetic studies of body mass index yield new insights for obesity biology. NCRV0000002622 28240269 NONHSAT035599.2 rs11624221 C N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008022 N/A Associate Blood protein levels rs11624221-C of NONHSAT035599.2 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 9E-14 ;OR = 0.3347). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. NCRV0000000135 24097068 NONHSAT192354.1 rs5756931 C N/A 94,595 european ancestry individuals; 93,982 european ancestry individuals EFO_0000319 N/A Associate Triglycerides rs5756931-C of NONHSAT192354.1 is significantly associated with the triglycerides by using GWAS analysis in 94,595 european ancestry individuals; 93,982 european ancestry individuals(p-value = 3E-8 ;OR = 0.02). 0.4 Discovery and refinement of loci associated with lipid levels. NCRV0000002679 23793025 NONHSAT207053.1 rs3095267 ? N/A 7,107 european ancestry cases//69,427 european ancestry controls EFO_0003821 N/A Associate Migraine without aura rs3095267-? of NONHSAT207053.1 is significantly associated with the migraine without aura by using GWAS analysis in 7,107 european ancestry cases//69,427 european ancestry controls(p-value = 9E-6 ;OR = 1.12). 0.4 Genome-wide meta-analysis identifies new susceptibility loci for migraine. NCRV0000003196 23028341 NONHSAT210396.1 rs3763317 C N/A 1,999 han chinese ancestry male individuals; 1,496 han chinese ancestry male individuals EFO_0005741 N/A Associate Complement c3 and c4 levels rs3763317-C of NONHSAT210396.1 is significantly associated with the complement c3 and c4 levels by using GWAS analysis in 1,999 han chinese ancestry male individuals; 1,496 han chinese ancestry male individuals(p-value = 9E-66 ;OR = 0.12). 0.4 Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects. NCRV0000003382 23817570 NONHSAT176939.1 rs8067378 G N/A up to 1,364 han chinese ancestry cases//up to 3,028 han chinese ancestry controls; 4,167 han chinese ancestry cases//7,196 han chinese ancestry controls EFO_0001061 N/A Associate Cervical cancer rs8067378-G of NONHSAT176939.1 is significantly associated with the cervical cancer by using GWAS analysis in up to 1,364 han chinese ancestry cases//up to 3,028 han chinese ancestry controls; 4,167 han chinese ancestry cases//7,196 han chinese ancestry controls(p-value = 9E-10 ;OR = 1.19). 0.4 A genome-wide association study identifies two new cervical cancer susceptibility loci at 4q12 and 17q12. NCRV0000002623 28240269 NONHSAT108508.2 rs3131085 A N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008233 N/A Associate Blood protein levels rs3131085-A of NONHSAT108508.2 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 1E-9 ;OR = 0.5111). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. NCRV0000001645 26252872 NONHSAT179793.1 rs429358 C N/A up to 883 european and other ancestry individuals EFO_0000249 N/A Associate Cerebral amyloid deposition positivity (pet imaging) rs429358-C of NONHSAT179793.1 is significantly associated with the cerebral amyloid deposition positivity (pet imaging) by using GWAS analysis in up to 883 european and other ancestry individuals(p-value = 5E-20 ;OR = 4.72). 0.4 Variations in the FRA10AC1 Fragile Site and 15q21 Are Associated with Cerebrospinal Fluid Abeta1-42 Level. NCRV0000003916 26631737 NONHSAT007069.2 rs3795324 A N/A up to 54,116 european ancestry cases HP_0012594 N/A Associate Microalbuminuria rs3795324-A of NONHSAT007069.2 is significantly associated with the microalbuminuria by using GWAS analysis in up to 54,116 european ancestry cases(p-value = 9E-7 ;OR = 0.15). 0.4 Genome-wide Association Studies Identify Genetic Loci Associated With Albuminuria in Diabetes. NCRV0000001283 27005778 NONHSAT063038.2 rs72999033 T N/A 2,118 erasmus rucphen (founder/genetic isolate)//22,807 european ancestry individuals EFO_0004732 N/A Associate Metabolite levels (lipoprotein measures) rs72999033-T of NONHSAT063038.2 is significantly associated with the metabolite levels (lipoprotein measures) by using GWAS analysis in 2,118 erasmus rucphen (founder/genetic isolate)//22,807 european ancestry individuals(p-value = 1E-16 ;OR = 0.18). 0.4 Genome-wide study for circulating metabolites identifies 62 loci and reveals novel systemic effects of LPA. NCRV0000002283 28273873 NONHSAT154627.1 rs7554672 ? N/A 8,839 korean ancestry individuals. EFO_0000537 N/A Associate Hypertension rs7554672-? of NONHSAT154627.1 is significantly associated with the hypertension by using GWAS analysis in 8,839 korean ancestry individuals.(p-value = 2E-6 ;OR = 1.21). 0.4 Interaction between Single Nucleotide Polymorphism and Urinary Sodium, Potassium, and Sodium-Potassium Ratio on the Risk of Hypertension in Korean Adults.LID - E235 [pii]LID - 10.3390/nu9030235 [doi]AB - Hypertension is a complex disease explai NCRV0000002777 28540026 NONHSAT172389.1 rs35828350 ? N/A schizophrenia cases and controls (see ripke//2014)cases//up to 1,190 controls EFO_0000692 N/A Associate Schizophrenia rs35828350-? of NONHSAT172389.1 is significantly associated with the schizophrenia by using GWAS analysis in schizophrenia cases and controls (see ripke//2014)cases//up to 1,190 controls(p-value = 6E-11 ;OR = 1.0752687). 0.4 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. NCRV0000002233 24816252 NONHSAT067101.2 rs601338 A N/A up to 5,591 european ancestry individuals; up to 1,767 european ancestry individuals EFO_0005664 N/A Associate Blood metabolite levels rs601338-A of NONHSAT067101.2 is significantly associated with the blood metabolite levels by using GWAS analysis in up to 5,591 european ancestry individuals; up to 1,767 european ancestry individuals(p-value = 3E-11 ;OR = 0.041). 0.4 An atlas of genetic influences on human blood metabolites. NCRV0000001247 23326239 NONHSAT108921.2 rs2854275 T N/A 1,367 mexican american indivduals; 589 mexican american indivduals EFO_0000769 N/A Associate Epstein-barr virus immune response (ebna-1) rs2854275-T of NONHSAT108921.2 is significantly associated with the epstein-barr virus immune response (ebna-1) by using GWAS analysis in 1,367 mexican american indivduals; 589 mexican american indivduals(p-value = 2E-10 ;OR = 0.45). 0.4 A genome-wide integrative genomic study localizes genetic factors influencing antibodies against Epstein-Barr virus nuclear antigen 1 (EBNA-1). NCRV0000003570 25673412 NONHSAT113087.2 rs943005 T N/A up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women EFO_0004342 N/A Associate Waist circumference rs943005-T of NONHSAT113087.2 is significantly associated with the waist circumference by using GWAS analysis in up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women(p-value = 1E-10 ;OR = 0.0371). 0.4 New genetic loci link adipose and insulin biology to body fat distribution. NCRV0000001766 27989323 NONHSAT012715.2 rs76606916 G N/A 3,531 finnish ancestry individuals EFO_0005140 N/A Associate Beta-nerve growth factor levels rs76606916-G of NONHSAT012715.2 is significantly associated with the beta-nerve growth factor levels by using GWAS analysis in 3,531 finnish ancestry individuals(p-value = 9E-6 ;OR = 0.6358). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. NCRV0000001193 21833088 NONHSAT196968.1 rs669607 C N/A 9,772 european ancestry cases//16,849 european ancestry controls; 4,218 european ancestry cases//7,296 european ancestry controls EFO_0003885 N/A Associate Multiple sclerosis rs669607-C of NONHSAT196968.1 is significantly associated with the multiple sclerosis by using GWAS analysis in 9,772 european ancestry cases//16,849 european ancestry controls; 4,218 european ancestry cases//7,296 european ancestry controls(p-value = 2E-15 ;OR = 1.13). 0.4 Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. NCRV0000000832 25562672 NONHSAT069432.2 rs1131351 C N/A 3,269 european ancestry individuals; 887 old order amish individuals EFO_0006876 N/A Associate Seasonality rs1131351-C of NONHSAT069432.2 is significantly associated with the seasonality by using GWAS analysis in 3,269 european ancestry individuals; 887 old order amish individuals(p-value = 8E-6 ;OR = 0.51). 0.4 Seasonality shows evidence for polygenic architecture and genetic correlation with schizophrenia and bipolar disorder. NCRV0000003225 23273568 NONHSAT184970.1 rs6705628 C N/A 1,656 han chinese ancestry cases//3,394 han chinese ancestry controls; 3,256 han chinese ancestry cases//5,667 han chinese ancestry controls//453 thai ancestry cases//963 thai ancestry controls EFO_0002690 N/A Associate Systemic lupus erythematosus rs6705628-C of NONHSAT184970.1 is significantly associated with the systemic lupus erythematosus by using GWAS analysis in 1,656 han chinese ancestry cases//3,394 han chinese ancestry controls; 3,256 han chinese ancestry cases//5,667 han chinese ancestry controls//453 thai ancestry cases//963 thai ancestry controls(p-value = 7E-17 ;OR = 1.3333). 0.4 Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians. NCRV0000000007 27989323 NONHSAT222126.1 rs144160960 C N/A 8,270 finnish ancestry individuals EFO_0005140 N/A Associate Interleukin-12p70 levels rs144160960-C of NONHSAT222126.1 is significantly associated with the interleukin-12p70 levels by using GWAS analysis in 8,270 finnish ancestry individuals(p-value = 7E-6 ;OR = 0.246). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. NCRV0000003238 21743467 NONHSAT028094.2 rs10875943 C N/A 6,621 european ancestry cases//6,939 european ancestry controls; 22,957 european ancestry cases//23,234 european ancestry controls//420 east asian ancestry cases//433 east asian ancestry controls//112 african american cases//298 african american controls//7,140 cases//5,455 controls EFO_0001663 N/A Associate Prostate cancer rs10875943-C of NONHSAT028094.2 is significantly associated with the prostate cancer by using GWAS analysis in 6,621 european ancestry cases//6,939 european ancestry controls; 22,957 european ancestry cases//23,234 european ancestry controls//420 east asian ancestry cases//433 east asian ancestry controls//112 african american cases//298 african american controls//7,140 cases//5,455 controls(p-value = 7E-12 ;OR = 1.07). 0.4 Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study. NCRV0000003096 25574825 NONHSAT003779.2 rs11209026 ? N/A 2,079 european ancestry atopic dermatitis cases//4,212 european ancestry psoriasis cases//11,899 european ancestry controls EFO_0000676 N/A Associate Inflammatory skin disease rs11209026-? of NONHSAT003779.2 is significantly associated with the inflammatory skin disease by using GWAS analysis in 2,079 european ancestry atopic dermatitis cases//4,212 european ancestry psoriasis cases//11,899 european ancestry controls(p-value = 2E-10 ;OR = ?). 0.4 Genome-wide comparative analysis of atopic dermatitis and psoriasis gives insight into opposing genetic mechanisms. NCRV0000003683 27863252 NONHSAT147868.2 rs2335455 C N/A 171,771 european ancestry individuals EFO_0009389 N/A Associate Sum eosinophil basophil counts rs2335455-C of NONHSAT147868.2 is significantly associated with the sum eosinophil basophil counts by using GWAS analysis in 171,771 european ancestry individuals(p-value = 5E-12 ;OR = 0.02845915). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001290 22174390 NONHSAT186671.1 rs6432018 ? N/A 472 european ancestry individuals from 99 families MONDO_0000992 N/A Associate Heart rate variability traits rs6432018-? of NONHSAT186671.1 is significantly associated with the heart rate variability traits by using GWAS analysis in 472 european ancestry individuals from 99 families(p-value = 8E-7 ;OR = ?). 0.4 Heritability of submaximal exercise heart rate response to exercise training is accounted for by nine SNPs. NCRV0000002466 22961080 NONHSAT224320.1 rs5945326 A N/A 1,839 han chinese ancestry cases//1,873 han chinese ancestry controls; 15,979 east asian ancestry cases//19,360 east asian ancestry controls//794 malay ancestry cases//1,240 malay ancestry controls//159 filipino ancestry cases//1,624 filipino ancestry controls EFO_0001360 N/A Associate Type 2 diabetes rs5945326-A of NONHSAT224320.1 is significantly associated with the type 2 diabetes by using GWAS analysis in 1,839 han chinese ancestry cases//1,873 han chinese ancestry controls; 15,979 east asian ancestry cases//19,360 east asian ancestry controls//794 malay ancestry cases//1,240 malay ancestry controls//159 filipino ancestry cases//1,624 filipino ancestry controls(p-value = 7E-16 ;OR = 1.18). 0.4 A genome-wide association study identifies GRK5 and RASGRP1 as type 2 diabetes loci in Chinese Hans. NCRV0000001727 27863252 NONHSAT144330.2 rs68149176 T N/A 172,433 european ancestry individuals EFO_0004526 N/A Associate Mean corpuscular volume rs68149176-T of NONHSAT144330.2 is significantly associated with the mean corpuscular volume by using GWAS analysis in 172,433 european ancestry individuals(p-value = 4E-20 ;OR = 0.03822953). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001437 27863252 NONHSAT144330.2 rs68149176 T N/A 172,332 european ancestry individuals EFO_0004527 N/A Associate Mean corpuscular hemoglobin rs68149176-T of NONHSAT144330.2 is significantly associated with the mean corpuscular hemoglobin by using GWAS analysis in 172,332 european ancestry individuals(p-value = 8E-17 ;OR = 0.03479208). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002418 25378659 NONHSAT031256.2 rs12815613 A N/A 10,129 european ancestry individuals EFO_0006796 N/A Associate Very long-chain saturated fatty acid levels (fatty acid 20:0) rs12815613-A of NONHSAT031256.2 is significantly associated with the very long-chain saturated fatty acid levels (fatty acid 20:0) by using GWAS analysis in 10,129 european ancestry individuals(p-value = 3E-6 ;OR = 4.654). 0.4 Genetic loci associated with circulating levels of very long-chain saturated fatty acids. NCRV0000003985 22959728 NONHSAT162367.1 rs4913250 ? N/A 4,243 european ancestry cases EFO_0000253 N/A Associate Amyotrophic lateral sclerosis (c9orf72 mutation interaction) rs4913250-? of NONHSAT162367.1 is significantly associated with the amyotrophic lateral sclerosis (c9orf72 mutation interaction) by using GWAS analysis in 4,243 european ancestry cases(p-value = 3E-6 ;OR = 1.6393442). 0.4 Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1. NCRV0000000110 25990418 NONHSAT041524.2 rs2293582 A N/A 7,577 european ancestry cases//9,979 european ancestry controls EFO_0005842 N/A Associate Colorectal cancer rs2293582-A of NONHSAT041524.2 is significantly associated with the colorectal cancer by using GWAS analysis in 7,577 european ancestry cases//9,979 european ancestry controls(p-value = 3E-11 ;OR = 1.21). 0.4 A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer. NCRV0000001143 20662065 NONHSAT108777.2 rs3099844 ? N/A 116 european ancestry cases//3,351 european ancestry controls EFO_0004537 N/A Associate Neonatal lupus rs3099844-? of NONHSAT108777.2 is significantly associated with the neonatal lupus by using GWAS analysis in 116 european ancestry cases//3,351 european ancestry controls(p-value = 5E-10 ;OR = 3.34). 0.4 Identification of candidate loci at 6p21 and 21q22 in a genome-wide association study of cardiac manifestations of neonatal lupus. NCRV0000002073 24800985 NONHSAT158631.1 rs11017328 ? N/A 537 european ancestry case-parent trios//213 case-parent trios; 348 european ancestry case-parent trios//10 case-parent trios Orphanet_2445 N/A Associate Conotruncal heart defects rs11017328-? of NONHSAT158631.1 is significantly associated with the conotruncal heart defects by using GWAS analysis in 537 european ancestry case-parent trios//213 case-parent trios; 348 european ancestry case-parent trios//10 case-parent trios(p-value = 3E-7 ;OR = 2.87). 0.4 Genome-wide association study of maternal and inherited loci for conotruncal heart defects. NCRV0000000797 27005778 NONHSAT179793.1 rs7412 T N/A 2,118 erasmus rucphen (founder/genetic isolate)//22,807 european ancestry individuals EFO_0004732 N/A Associate Metabolite levels (lipoprotein measures) rs7412-T of NONHSAT179793.1 is significantly associated with the metabolite levels (lipoprotein measures) by using GWAS analysis in 2,118 erasmus rucphen (founder/genetic isolate)//22,807 european ancestry individuals(p-value = 2E-120 ;OR = 0.59). 0.4 Genome-wide study for circulating metabolites identifies 62 loci and reveals novel systemic effects of LPA. NCRV0000001581 27863252 NONHSAT145107.2 rs9913156 T N/A 171,643 european ancestry individuals EFO_0004587 N/A Associate Lymphocyte counts rs9913156-T of NONHSAT145107.2 is significantly associated with the lymphocyte counts by using GWAS analysis in 171,643 european ancestry individuals(p-value = 4E-15 ;OR = 0.03284058). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000920 28476931 NONHSAT166150.1 rs72637434 A N/A 419 pima indian ancestry individuals EFO_0005109 N/A Associate Energy expenditure (24h) rs72637434-A of NONHSAT166150.1 is significantly associated with the energy expenditure (24h) by using GWAS analysis in 419 pima indian ancestry individuals(p-value = 4E-6 ;OR = 69.783646). 0.4 A Genome-Wide Association Study Using a Custom Genotyping Array Identifies Variants in GPR158 Associated With Reduced Energy Expenditure in American Indians. NCRV0000001253 24816252 NONHSAT108190.2 rs1185567 A N/A up to 5,591 european ancestry individuals; up to 1,767 european ancestry individuals EFO_0005664 N/A Associate Blood metabolite ratios rs1185567-A of NONHSAT108190.2 is significantly associated with the blood metabolite ratios by using GWAS analysis in up to 5,591 european ancestry individuals; up to 1,767 european ancestry individuals(p-value = 1E-26 ;OR = 0.028). 0.4 An atlas of genetic influences on human blood metabolites. NCRV0000001459 27863252 NONHSAT060713.2 rs778798 C N/A 171,846 european ancestry individuals EFO_0005090 N/A Associate White blood cell count (basophil) rs778798-C of NONHSAT060713.2 is significantly associated with the white blood cell count (basophil) by using GWAS analysis in 171,846 european ancestry individuals(p-value = 2E-12 ;OR = 0.02817483). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003384 27989323 NONHSAT172070.1 rs116300444 C N/A 8,186 finnish ancestry individuals EFO_0005140 N/A Associate Trail levels rs116300444-C of NONHSAT172070.1 is significantly associated with the trail levels by using GWAS analysis in 8,186 finnish ancestry individuals(p-value = 6E-6 ;OR = 0.2228). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. NCRV0000000090 18391951 NONHSAT188193.1 rs749052 A N/A 30,968 european ancestry individuals; 8,541 european ancestry individuals EFO_0004339 N/A Associate Height rs749052-A of NONHSAT188193.1 is significantly associated with the height by using GWAS analysis in 30,968 european ancestry individuals; 8,541 european ancestry individuals(p-value = 1E-6 ;OR = 8.7). 0.4 Many sequence variants affecting diversity of adult human height. NCRV0000000272 27989323 NONHSAT196672.1 rs182342623 C N/A 3,522 finnish ancestry individuals EFO_0005140 N/A Associate Macrophage inflammatory protein 1a levels rs182342623-C of NONHSAT196672.1 is significantly associated with the macrophage inflammatory protein 1a levels by using GWAS analysis in 3,522 finnish ancestry individuals(p-value = 7E-6 ;OR = 0.4173). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. NCRV0000002551 28928442 NONHSAT163579.1 rs71227278 ? N/A 35,000 european ancestry cases//33,478 european ancestry controls EFO_0008413 N/A Associate Urinary tract infection frequency rs71227278-? of NONHSAT163579.1 is significantly associated with the urinary tract infection frequency by using GWAS analysis in 35,000 european ancestry cases//33,478 european ancestry controls(p-value = 3E-6 ;OR = 0.0355). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. NCRV0000001566 27863252 NONHSAT056215.2 rs11650665 G N/A 170,548 european ancestry individuals EFO_0007986 N/A Associate Immature fraction of reticulocytes rs11650665-G of NONHSAT056215.2 is significantly associated with the immature fraction of reticulocytes by using GWAS analysis in 170,548 european ancestry individuals(p-value = 1E-17 ;OR = 0.03318629). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003672 26634245 NONHSAT158248.1 rs190509410 A N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs190509410-A of NONHSAT158248.1 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 2E-6 ;OR = 2.674). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000000490 25629512 NONHSAT209143.1 rs2295334 ? N/A 2,119 east asian ancestry cases//5,691 east asian ancestry controls; 4,226 east asian ancestry cases//10,289 east asian ancestry controls EFO_0004683 N/A Associate Exudative age-related macular degeneration rs2295334-? of NONHSAT209143.1 is significantly associated with the exudative age-related macular degeneration by using GWAS analysis in 2,119 east asian ancestry cases//5,691 east asian ancestry controls; 4,226 east asian ancestry cases//10,289 east asian ancestry controls(p-value = 6E-18 ;OR = 1.28). 0.4 New loci and coding variants confer risk for age-related macular degeneration in East Asians. NCRV0000001344 20522523 NONHSAT113714.2 rs346291 ? N/A up to 3,445 european ancestry cases//6,935 european ancestry controls EFO_0004263 N/A Associate Partial epilepsies rs346291-? of NONHSAT113714.2 is significantly associated with the partial epilepsies by using GWAS analysis in up to 3,445 european ancestry cases//6,935 european ancestry controls(p-value = 3E-7 ;OR = 1.2). 0.4 Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study. NCRV0000000679 18464913 NONHSAT152242.1 rs4950322 ? N/A 1,200 european ancestry individuals; up to 4,590 european ancestry individuals EFO_0004819 N/A Associate Protein quantitative trait loci rs4950322-? of NONHSAT152242.1 is significantly associated with the protein quantitative trait loci by using GWAS analysis in 1,200 european ancestry individuals; up to 4,590 european ancestry individuals(p-value = 2E-7 ;OR = ?). 0.4 A genome-wide association study identifies protein quantitative trait loci (pQTLs). NCRV0000001747 26098869 NONHSAT165888.1 rs9543325 ? N/A 7,638 cases//7,364 controls; 2,287 cases//4,205 controls EFO_0002618 N/A Associate Pancreatic cancer rs9543325-? of NONHSAT165888.1 is significantly associated with the pancreatic cancer by using GWAS analysis in 7,638 cases//7,364 controls; 2,287 cases//4,205 controls(p-value = 2E-10 ;OR = 1.24). 0.4 Common variation at 2p13.3, 3q29, 7p13 and 17q25.1 associated with susceptibility to pancreatic cancer. NCRV0000003491 27798627 NONHSAT188655.1 rs293566 T N/A 189,656 european ancestry women//48,408 european ancestry men; EFO_0007862 N/A Associate Age at first birth rs293566-T of NONHSAT188655.1 is significantly associated with the age at first birth by using GWAS analysis in 189,656 european ancestry women//48,408 european ancestry men; (p-value = 1E-6 ;OR = 0.079). 0.4 Genome-wide analysis identifies 12 loci influencing human reproductive behavior. NCRV0000000095 28654678 NONHSAT124497.2 rs6459788 ? N/A 389 east asian ancestry individuals//189 south asian ancestry individuals//492 european ancestry individuals//467 sub-saharan african ancestry individuals//59 african american individuals//157 hispanic/latino individuals EFO_0000769 N/A Associate Epstein-barr virus copy number in lymphoblastoid cell lines rs6459788-? of NONHSAT124497.2 is significantly associated with the epstein-barr virus copy number in lymphoblastoid cell lines by using GWAS analysis in 389 east asian ancestry individuals//189 south asian ancestry individuals//492 european ancestry individuals//467 sub-saharan african ancestry individuals//59 african american individuals//157 hispanic/latino individuals(p-value = 7E-6 ;OR = ?). 0.4 Genetic factors affecting EBV copy number in lymphoblastoid cell lines derived from the 1000 Genome Project samples. NCRV0000003755 26192919 NONHSAT191238.1 rs2823286 A N/A 5,956 european ancestry cases//14,927 european ancestry controls; 14,594 european ancestry cases//26,715 european ancestry controls//151 iranian ancestry cases//342 iranian ancestry controls//184 indian ancestry cases//990 indian ancestry controls//1,690 east asian ancestry cases//3,719 east asian ancestry controls EFO_0000384 N/A Associate Crohn's disease rs2823286-A of NONHSAT191238.1 is significantly associated with the crohn's disease by using GWAS analysis in 5,956 european ancestry cases//14,927 european ancestry controls; 14,594 european ancestry cases//26,715 european ancestry controls//151 iranian ancestry cases//342 iranian ancestry controls//184 indian ancestry cases//990 indian ancestry controls//1,690 east asian ancestry cases//3,719 east asian ancestry controls(p-value = 1E-24 ;OR = 1.1480856). 0.4 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. NCRV0000001154 25343990 NONHSAT202792.1 rs921943 T N/A 9,639 european ancestry individuals EFO_0000319 N/A Associate Blood and toenail selenium levels rs921943-T of NONHSAT202792.1 is significantly associated with the blood and toenail selenium levels by using GWAS analysis in 9,639 european ancestry individuals(p-value = 2E-39 ;OR = ?). 0.4 Genome-wide association study of selenium concentrations. NCRV0000000178 23770605 NONHSAT172223.1 rs11636802 G N/A 2,179 european ancestry cases//6,221 european ancestry controls; 1,709 european ancestry cases//6,318 european ancestry controls EFO_0000095 N/A Associate Chronic lymphocytic leukemia rs11636802-G of NONHSAT172223.1 is significantly associated with the chronic lymphocytic leukemia by using GWAS analysis in 2,179 european ancestry cases//6,221 european ancestry controls; 1,709 european ancestry cases//6,318 european ancestry controls(p-value = 2E-13 ;OR = 1.41). 0.4 Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia. NCRV0000003955 29059430 NONHSAT177162.1 rs11651604 C N/A 69 european ancestry cases//2,144 european ancestry controls EFO_0000305 treated with less than 10 gray radiotherapy Associate Breast cancer in childhood cancer survivors treated with less than 10 gray radiotherapy rs11651604-C of NONHSAT177162.1 is significantly associated with the breast cancer in childhood cancer survivors treated with less than 10 gray radiotherapy by using GWAS analysis in 69 european ancestry cases//2,144 european ancestry controls(p-value = 6E-7 ;OR = 2.12). 0.4 Genome-Wide Association Study to Identify Susceptibility Loci That Modify Radiation-Related Risk for Breast Cancer After Childhood Cancer.LID - 10.1093/jnci/djx058 [doi]AB - Background: Childhood cancer survivors treated with chest-directed rad NCRV0000002226 26451028 NONHSAT167243.1 rs2391776 C N/A 1,085 european ancestry elderly cases//6,688 european ancestry elderly controls EFO_0000712 N/A Associate White matter lesion progression rs2391776-C of NONHSAT167243.1 is significantly associated with the white matter lesion progression by using GWAS analysis in 1,085 european ancestry elderly cases//6,688 european ancestry elderly controls(p-value = 4E-6 ;OR = 1.724138). 0.4 White Matter Lesion Progression: Genome-Wide Search for Genetic Influences. NCRV0000003402 17554260 NONHSAT017487.2 rs3741208 T N/A 2,000 european ancestry cases//3,000 european ancestry controls; 2,997 european ancestry trios//4,000 european ancestry cases//5,000 european ancestry controls EFO_0001359 N/A Associate Type 1 diabetes rs3741208-T of NONHSAT017487.2 is significantly associated with the type 1 diabetes by using GWAS analysis in 2,000 european ancestry cases//3,000 european ancestry controls; 2,997 european ancestry trios//4,000 european ancestry cases//5,000 european ancestry controls(p-value = 2E-7 ;OR = 1.25). 0.4 Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. NCRV0000000884 21844884 NONHSAT176807.1 rs7210837 ? N/A 176 sub-saharan african ancestry lymphoblastoid cell lines//83 african ancestry lymphoblastoid cell lines//175 east asian ancestry lymphoblastoid cell lines//174 european ancestry lymphoblastoid cell lines GO_0072718 platinum-based neoadjuvant chemotherapy Associate Response to platinum-based chemotherapy (cisplatin) rs7210837-? of NONHSAT176807.1 is significantly associated with the response to platinum-based chemotherapy (cisplatin) by using GWAS analysis in 176 sub-saharan african ancestry lymphoblastoid cell lines//83 african ancestry lymphoblastoid cell lines//175 east asian ancestry lymphoblastoid cell lines//174 european ancestry lymphoblastoid cell lines(p-value = 6E-7 ;OR = ?). 0.4 Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations. NCRV0000003444 21909115 NONHSAT189066.1 rs6015450 G N/A 69,395 european ancestry individuals; up to 133,361 european ancestry individuals EFO_0000319 N/A Associate Systolic blood pressure rs6015450-G of NONHSAT189066.1 is significantly associated with the systolic blood pressure by using GWAS analysis in 69,395 european ancestry individuals; up to 133,361 european ancestry individuals(p-value = 4E-23 ;OR = 0.896). 0.4 Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. NCRV0000002966 23023329 NONHSAT216393.1 rs1456315 ? N/A 1,417 han chinese ancestry cases//1,008 han chinese ancestry controls; 3,067 han chinese ancestry cases//7,926 han chinese ancestry controls EFO_0001663 N/A Associate Prostate cancer rs1456315-? of NONHSAT216393.1 is significantly associated with the prostate cancer by using GWAS analysis in 1,417 han chinese ancestry cases//1,008 han chinese ancestry controls; 3,067 han chinese ancestry cases//7,926 han chinese ancestry controls(p-value = 1E-12 ;OR = ?). 0.4 Genome-wide association study in Chinese men identifies two new prostate cancer risk loci at 9q31.2 and 19q13.4. NCRV0000000407 25231870 NONHSAT044219.2 rs3743266 T N/A up to 182,413 european ancestry females EFO_0004703 N/A Associate Menarche (age at onset) rs3743266-T of NONHSAT044219.2 is significantly associated with the menarche (age at onset) by using GWAS analysis in up to 182,413 european ancestry females(p-value = 2E-13 ;OR = 0.04). 0.4 Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. NCRV0000001148 20860503 NONHSAT203208.1 rs2073643 T N/A 10,365 cases//16,110 controls EFO_0000270 N/A Associate Asthma rs2073643-T of NONHSAT203208.1 is significantly associated with the asthma by using GWAS analysis in 10,365 cases//16,110 controls(p-value = 2E-7 ;OR = 1.11). 0.4 A large-scale, consortium-based genomewide association study of asthma. NCRV0000003056 26634245 NONHSAT064139.2 rs7249887 T N/A 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases EFO_0003892 N/A Associate Post bronchodilator fev1 in copd rs7249887-T of NONHSAT064139.2 is significantly associated with the post bronchodilator fev1 in copd by using GWAS analysis in 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases(p-value = 2E-6 ;OR = 0.145). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000000514 27863252 NONHSAT153166.1 rs4626924 T N/A 170,494 european ancestry individuals EFO_0007989 N/A Associate Monocyte percentage of white cells rs4626924-T of NONHSAT153166.1 is significantly associated with the monocyte percentage of white cells by using GWAS analysis in 170,494 european ancestry individuals(p-value = 5E-19 ;OR = 0.03237743). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002902 28090653 NONHSAT188293.1 rs3935695 C N/A up to 488 european ancestry cases//up to 111 african american cases//up to 60 hispanic cases//up to 56 other ancestry cases EFO_0000220 N/A Associate Alanine aminotransferase (alt) levels after remission induction therapy in actute lymphoblastic leukemia (all) rs3935695-C of NONHSAT188293.1 is significantly associated with the alanine aminotransferase (alt) levels after remission induction therapy in actute lymphoblastic leukemia (all) by using GWAS analysis in up to 488 european ancestry cases//up to 111 african american cases//up to 60 hispanic cases//up to 56 other ancestry cases(p-value = 7E-6 ;OR = 1.27). 0.4 Genome-Wide Study Links PNPLA3 Variant With Elevated Hepatic Transaminase After Acute Lymphoblastic Leukemia Therapy. NCRV0000003728 21302353 NONHSAT113702.2 rs3747767 A N/A 3,304 european ancestry individuals EFO_0004242 N/A Associate Hoarding rs3747767-A of NONHSAT113702.2 is significantly associated with the hoarding by using GWAS analysis in 3,304 european ancestry individuals(p-value = 7E-7 ;OR = 1.81). 0.4 Genome-wide association study of hoarding traits. NCRV0000000934 27989323 NONHSAT216850.1 rs13278062 G N/A 8,186 finnish ancestry individuals EFO_0005140 N/A Associate Trail levels rs13278062-G of NONHSAT216850.1 is significantly associated with the trail levels by using GWAS analysis in 8,186 finnish ancestry individuals(p-value = 4E-7 ;OR = 0.0801). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. NCRV0000002124 27863252 NONHSAT211174.1 rs71736125 T N/A 164,339 european ancestry individuals EFO_0007985 N/A Associate Plateletcrit rs71736125-T of NONHSAT211174.1 is significantly associated with the plateletcrit by using GWAS analysis in 164,339 european ancestry individuals(p-value = 1E-21 ;OR = 0.04309661). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003213 22808956 NONHSAT178159.1 rs1623523 ? N/A 914 european ancestry cases//5,259 european ancestry controls; 1,454 european ancestry cases//1,666 european ancestry controls EFO_0004826 N/A Associate Antineutrophil cytoplasmic antibody-associated vasculitis rs1623523-? of NONHSAT178159.1 is significantly associated with the antineutrophil cytoplasmic antibody-associated vasculitis by using GWAS analysis in 914 european ancestry cases//5,259 european ancestry controls; 1,454 european ancestry cases//1,666 european ancestry controls(p-value = 3E-6 ;OR = ?). 0.4 Genetically distinct subsets within ANCA-associated vasculitis. NCRV0000002789 28448500 NONHSAT210397.1 rs9378213 G N/A 2,518 african american women//83,707 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//52,993 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men EFO_0007788 in active individuals Associate Waist-to-hip ratio adjusted for bmi in active individuals rs9378213-G of NONHSAT210397.1 is significantly associated with the waist-to-hip ratio adjusted for bmi in active individuals by using GWAS analysis in 2,518 african american women//83,707 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//52,993 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men(p-value = 6E-7 ;OR = 0.0232). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. NCRV0000002812 27989323 NONHSAT087620.2 rs66515854 C N/A 3,531 finnish ancestry individuals EFO_0005140 N/A Associate Beta-nerve growth factor levels rs66515854-C of NONHSAT087620.2 is significantly associated with the beta-nerve growth factor levels by using GWAS analysis in 3,531 finnish ancestry individuals(p-value = 7E-6 ;OR = 0.1948). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. NCRV0000001868 27863252 NONHSAT157923.1 rs118033845 A N/A 164,454 european ancestry individuals EFO_0004584 N/A Associate Mean platelet volume rs118033845-A of NONHSAT157923.1 is significantly associated with the mean platelet volume by using GWAS analysis in 164,454 european ancestry individuals(p-value = 6E-12 ;OR = 0.06951009). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000131 25201988 NONHSAT204426.1 rs6882046 A N/A 106,736 european ancestry individuals EFO_0004784 N/A Associate Educational attainment rs6882046-A of NONHSAT204426.1 is significantly associated with the educational attainment by using GWAS analysis in 106,736 european ancestry individuals(p-value = 9E-7 ;OR = 0.024). 0.4 Common genetic variants associated with cognitive performance identified using the proxy-phenotype method. NCRV0000003936 27863252 NONHSAT197521.1 rs4328821 G N/A 172,275 european ancestry individuals EFO_0004842 N/A Associate Eosinophil counts rs4328821-G of NONHSAT197521.1 is significantly associated with the eosinophil counts by using GWAS analysis in 172,275 european ancestry individuals(p-value = 4E-115 ;OR = 0.1308034). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003815 25673413 NONHSAT036194.2 rs12885454 C N/A up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals EFO_0001073 N/A Associate Body mass index rs12885454-C of NONHSAT036194.2 is significantly associated with the body mass index by using GWAS analysis in up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals(p-value = 3E-8 ;OR = 0.023). 0.4 Genetic studies of body mass index yield new insights for obesity biology. NCRV0000002997 27989323 NONHSAT205427.1 rs17317275 G N/A 3,634 finnish ancestry individuals EFO_0005140 N/A Associate Interleukin-9 levels rs17317275-G of NONHSAT205427.1 is significantly associated with the interleukin-9 levels by using GWAS analysis in 3,634 finnish ancestry individuals(p-value = 8E-6 ;OR = 0.4062). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. NCRV0000001721 28078323 NONHSAT179793.1 rs429358 ? N/A 3,964 african american ancestry individuals. HP_0100543 N/A Associate Cognitive decline (age-related) rs429358-? of NONHSAT179793.1 is significantly associated with the cognitive decline (age-related) by using GWAS analysis in 3,964 african american ancestry individuals.(p-value = 2E-14 ;OR = 0.01). 0.4 Genetic architecture of age-related cognitive decline in African Americans. NCRV0000000822 23563607 NONHSAT200487.1 rs7689420 C N/A 8,097 european ancestry tall individuals//8,099 european ancestry short individuals; 4,872 european ancestry tall individuals//4,831 european ancestry short individuals EFO_0004339 N/A Associate Height rs7689420-C of NONHSAT200487.1 is significantly associated with the height by using GWAS analysis in 8,097 european ancestry tall individuals//8,099 european ancestry short individuals; 4,872 european ancestry tall individuals//4,831 european ancestry short individuals(p-value = 4E-21 ;OR = 1.33). 0.4 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. NCRV0000001798 23563607 NONHSAT154610.1 rs2820464 G N/A 4,774 european ancestry high waist-to-hip ratio individuals//5,481 european ancestry low waist-to-hip ratio individuals; 3,351 european ancestry high waist-to-hip ratio individuals//3,352 european ancestry low waist-to-hip ratio individuals EFO_0004343 N/A Associate Waist-hip ratio rs2820464-G of NONHSAT154610.1 is significantly associated with the waist-hip ratio by using GWAS analysis in 4,774 european ancestry high waist-to-hip ratio individuals//5,481 european ancestry low waist-to-hip ratio individuals; 3,351 european ancestry high waist-to-hip ratio individuals//3,352 european ancestry low waist-to-hip ratio individuals(p-value = 7E-9 ;OR = 1.16). 0.4 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. NCRV0000003357 27890468 NONHSAT220447.1 rs36030485 ? N/A 9,650 european ancestry bipolar disorder cases//2,950 european ancestry adhd cases//1,659 european and unknown ancestry adhd cases//16,325 european ancestry controls//2,942 european and unknown ancestry controls//2,096 controls EFO_0000677 N/A Associate Bipolar disorder or attention deficit hyperactivity disorder rs36030485-? of NONHSAT220447.1 is significantly associated with the bipolar disorder or attention deficit hyperactivity disorder by using GWAS analysis in 9,650 european ancestry bipolar disorder cases//2,950 european ancestry adhd cases//1,659 european and unknown ancestry adhd cases//16,325 european ancestry controls//2,942 european and unknown ancestry controls//2,096 controls(p-value = 9E-7 ;OR = ?). 0.4 Genetic Overlap Between Attention-Deficit/Hyperactivity Disorder and Bipolar Disorder: Evidence From Genome-wide Association Study Meta-analysis. NCRV0000002235 19734900 NONHSAT200935.1 rs4689388 T N/A 679 european ancestry cases//697 european ancestry controls; 5,579 european ancestry cases//7,096 european ancestry controls EFO_0001360 N/A Associate Type 2 diabetes and other traits rs4689388-T of NONHSAT200935.1 is significantly associated with the type 2 diabetes and other traits by using GWAS analysis in 679 european ancestry cases//697 european ancestry controls; 5,579 european ancestry cases//7,096 european ancestry controls(p-value = 1E-8 ;OR = 1.16). 0.4 Genetic variant near IRS1 is associated with type 2 diabetes, insulin resistance and hyperinsulinemia. NCRV0000001051 24292274 NONHSAT129017.2 rs2466024 A N/A 1,739 european ancestry cases//5,199 european ancestry controls; 1,144 european ancestry cases//3,151 european ancestry controls EFO_0000095 N/A Associate Chronic lymphocytic leukemia rs2466024-A of NONHSAT129017.2 is significantly associated with the chronic lymphocytic leukemia by using GWAS analysis in 1,739 european ancestry cases//5,199 european ancestry controls; 1,144 european ancestry cases//3,151 european ancestry controls(p-value = 3E-6 ;OR = 1.21). 0.4 A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia. NCRV0000000820 24376456 NONHSAT161072.1 rs7116456 T N/A up to 6,882 european ancestry individuals EFO_0000319 alcohol consumption interaction Associate Systolic blood pressure (alcohol consumption interaction) rs7116456-T of NONHSAT161072.1 is significantly associated with the systolic blood pressure (alcohol consumption interaction) by using GWAS analysis in up to 6,882 european ancestry individuals(p-value = 1E-7 ;OR = 0.929). 0.4 Gene-alcohol interactions identify several novel blood pressure loci including a promising locus near SLC16A9. NCRV0000002801 23382691 NONHSAT053418.2 rs523516 T N/A 2,247 european ancestry individuals EFO_0002690 N/A Associate Igg glycosylation rs523516-T of NONHSAT053418.2 is significantly associated with the igg glycosylation by using GWAS analysis in 2,247 european ancestry individuals(p-value = 4E-6 ;OR = 0.1916). 0.4 Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. NCRV0000001357 23453885 NONHSAT179116.1 rs12966547 ? N/A 6,990 european ancestry bipolar disorder cases//9,227 european ancestry major depressive disorder cases//9,379 european ancestry schizophrenia cases//161 european ancestry autism spectrum disorder cases//4,788 european ancestry autism spectrum disorder trio cases//840 european ancestry attention deficit-hyperactivity disorder cases//1,947 european ancestry attention defcit-hyperactivity disorder trio cases//27,888 european ancestry controls EFO_0000677 N/A Associate Autism spectrum disorder//attention deficit-hyperactivity disorder//bipolar disorder//major depressive disorder//and schizophrenia (combined) rs12966547-? of NONHSAT179116.1 is significantly associated with the autism spectrum disorder//attention deficit-hyperactivity disorder//bipolar disorder//major depressive disorder//and schizophrenia (combined) by using GWAS analysis in 6,990 european ancestry bipolar disorder cases//9,227 european ancestry major depressive disorder cases//9,379 european ancestry schizophrenia cases//161 european ancestry autism spectrum disorder cases//4,788 european ancestry autism spectrum disorder trio cases//840 european ancestry attention deficit-hyperactivity disorder cases//1,947 european ancestry attention defcit-hyperactivity disorder trio cases//27,888 european ancestry controls(p-value = 3E-10 ;OR = ?). 0.4 Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. NCRV0000000466 28360221 NONHSAT041028.2 rs8033133 A N/A 45,889 european ancestry individuals//up to 8,765 asian indian ancestry individuals//up to 7,215 african ancestry individuals; 17,637 european ancestry individuals EFO_0007967 N/A Associate Blood osmolality (transformed sodium) rs8033133-A of NONHSAT041028.2 is significantly associated with the blood osmolality (transformed sodium) by using GWAS analysis in 45,889 european ancestry individuals//up to 8,765 asian indian ancestry individuals//up to 7,215 african ancestry individuals; 17,637 european ancestry individuals(p-value = 9E-6 ;OR = 0.09). 0.4 NFAT5 and SLC4A10 Loci Associate with Plasma Osmolality. NCRV0000003655 27863252 NONHSAT153166.1 rs4626924 T N/A 169,545 european ancestry individuals EFO_0007997 N/A Associate Granulocyte percentage of myeloid white cells rs4626924-T of NONHSAT153166.1 is significantly associated with the granulocyte percentage of myeloid white cells by using GWAS analysis in 169,545 european ancestry individuals(p-value = 2E-17 ;OR = 0.03093424). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001210 23266556 NONHSAT216396.1 rs6983267 G N/A 12,696 european ancestry colorectal tumor cases//15,113 european ancestry controls; 958 european ancestry colorectal tumor cases//909 european ancestry controls//up to 2,098 east asian ancestry colorectal tumor cases//up to 5,749 east asian ancestry controls EFO_0005842 N/A Associate Colorectal cancer rs6983267-G of NONHSAT216396.1 is significantly associated with the colorectal cancer by using GWAS analysis in 12,696 european ancestry colorectal tumor cases//15,113 european ancestry controls; 958 european ancestry colorectal tumor cases//909 european ancestry controls//up to 2,098 east asian ancestry colorectal tumor cases//up to 5,749 east asian ancestry controls(p-value = 1E-11 ;OR = 1.13). 0.4 Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis. NCRV0000002354 28580392 NONHSAT179210.1 rs12606715 C N/A up to 10,305 african american women EFO_0003882 N/A Associate Osteoporosis rs12606715-C of NONHSAT179210.1 is significantly associated with the osteoporosis by using GWAS analysis in up to 10,305 african american women(p-value = 8E-6 ;OR = 1.32). 0.4 A genome-wide association study meta-analysis of clinical fracture in 10,012 African American women. NCRV0000002510 28067908 NONHSAT210327.1 rs71559680 ? N/A 25,042 european and unknown ancestry cases//34,915 european and unknown ancestry controls EFO_0003767 N/A Associate Inflammatory bowel disease rs71559680-? of NONHSAT210327.1 is significantly associated with the inflammatory bowel disease by using GWAS analysis in 25,042 european and unknown ancestry cases//34,915 european and unknown ancestry controls(p-value = 5E-7 ;OR = ?). 0.4 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. NCRV0000003147 27515689 NONHSAT198416.1 rs71610881 A N/A 1,346 european ancestry individuals EFO_0001663 radiotherapy Associate Response to radiotherapy in prostate cancer (overall toxicity) rs71610881-A of NONHSAT198416.1 is significantly associated with the response to radiotherapy in prostate cancer (overall toxicity) by using GWAS analysis in 1,346 european ancestry individuals(p-value = 5E-7 ;OR = 0.6). 0.4 Meta-analysis of Genome Wide Association Studies Identifies Genetic Markers of Late Toxicity Following Radiotherapy for Prostate Cancer. NCRV0000001793 27490719 NONHSAT037609.2 rs917063 G N/A 884 norwegian ancestry children EFO_0005112 N/A Associate Gestational age at birth in labor-initiated deliveries (child effect) rs917063-G of NONHSAT037609.2 is significantly associated with the gestational age at birth in labor-initiated deliveries (child effect) by using GWAS analysis in 884 norwegian ancestry children(p-value = 8E-6 ;OR = ?). 0.4 Literature-Informed Analysis of a Genome-Wide Association Study of Gestational Age in Norwegian Women and Children Suggests Involvement of Inflammatory Pathways. NCRV0000003282 21647738 NONHSAT007009.2 rs876537 C N/A 1,709 filipino ancestry female individuals EFO_0000195 N/A Associate C-reactive protein rs876537-C of NONHSAT007009.2 is significantly associated with the c-reactive protein by using GWAS analysis in 1,709 filipino ancestry female individuals(p-value = 1E-9 ;OR = 0.288). 0.4 Genome-wide association with C-reactive protein levels in CLHNS: evidence for the CRP and HNF1A loci and their interaction with exposure to a pathogenic environment. NCRV0000000796 23793025 NONHSAT123567.2 rs1364402 ? N/A 5,118 european ancestry cases//74,239 european ancestry controls EFO_0003821 N/A Associate Migraine with aura rs1364402-? of NONHSAT123567.2 is significantly associated with the migraine with aura by using GWAS analysis in 5,118 european ancestry cases//74,239 european ancestry controls(p-value = 4E-6 ;OR = 1.19). 0.4 Genome-wide meta-analysis identifies new susceptibility loci for migraine. NCRV0000003177 18821564 NONHSAT205290.1 rs11134178 T N/A 105 european ancestry cases//34 hispanic cases//26 african american cases//22 cases EFO_0003888 N/A Associate Attention deficit hyperactivity disorder rs11134178-T of NONHSAT205290.1 is significantly associated with the attention deficit hyperactivity disorder by using GWAS analysis in 105 european ancestry cases//34 hispanic cases//26 african american cases//22 cases(p-value = 3E-6 ;OR = ?). 0.4 Genome-wide association study of response to methylphenidate in 187 children with attention-deficit/hyperactivity disorder. NCRV0000001495 28240269 NONHSAT179793.1 rs429358 ? N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008029 N/A Associate Blood protein levels rs429358-? of NONHSAT179793.1 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 2E-12 ;OR = ?). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. NCRV0000002383 27863252 NONHSAT199245.1 rs12505188 C N/A 171,529 european ancestry individuals EFO_0005192 N/A Associate Red cell distribution width rs12505188-C of NONHSAT199245.1 is significantly associated with the red cell distribution width by using GWAS analysis in 171,529 european ancestry individuals(p-value = 1E-9 ;OR = 0.02205701). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002910 28135244 NONHSAT083445.2 rs12628032 T N/A 140,886 european ancestry individuals; 190,318 european ancestry individuals EFO_0005763 N/A Associate Pulse pressure rs12628032-T of NONHSAT083445.2 is significantly associated with the pulse pressure by using GWAS analysis in 140,886 european ancestry individuals; 190,318 european ancestry individuals(p-value = 6E-12 ;OR = 0.24). 0.4 Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk. NCRV0000000634 26198764 NONHSAT177845.1 rs72934570 C N/A 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls EFO_0000692 N/A Associate Schizophrenia rs72934570-C of NONHSAT177845.1 is significantly associated with the schizophrenia by using GWAS analysis in 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls(p-value = 7E-13 ;OR = 1.1627907). 0.4 Genome-wide association study of schizophrenia in Ashkenazi Jews. NCRV0000001095 21810271 NONHSAT220867.1 rs1757948 G N/A 1,624 european ancestry individuals EFO_0004629 N/A Associate Vwf levels rs1757948-G of NONHSAT220867.1 is significantly associated with the vwf levels by using GWAS analysis in 1,624 european ancestry individuals(p-value = 7E-6 ;OR = 0.15). 0.4 Combined analysis of three genome-wide association studies on vWF and FVIII plasma levels. NCRV0000002776 23563607 NONHSAT186760.1 rs10182181 G N/A 93,015 european ancestry overweight individuals//32,858 european ancestry class i obese individuals//9,889 european ancestry class ii obese individuals//2,896 european ancestry class iii obese individuals//up to 65,840 european ancestry controls; 65,332 european ancestry overweight individuals//22,373 european ancestry class i obese individuals//5,476 european ancestry class ii obese individuals//1,162 european ancestry class iii obese individuals//up to 39,294 european ancestry controls EFO_0001073 N/A Associate Obesity rs10182181-G of NONHSAT186760.1 is significantly associated with the obesity by using GWAS analysis in 93,015 european ancestry overweight individuals//32,858 european ancestry class i obese individuals//9,889 european ancestry class ii obese individuals//2,896 european ancestry class iii obese individuals//up to 65,840 european ancestry controls; 65,332 european ancestry overweight individuals//22,373 european ancestry class i obese individuals//5,476 european ancestry class ii obese individuals//1,162 european ancestry class iii obese individuals//up to 39,294 european ancestry controls(p-value = 1E-17 ;OR = 1.08). 0.4 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. NCRV0000003039 23251661 NONHSAT115250.2 rs11155053 A N/A 815 hispanic children from 263 families EFO_0004326 N/A Associate Obesity-related traits rs11155053-A of NONHSAT115250.2 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 9E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. NCRV0000003209 26198764 NONHSAT187912.1 rs59979824 C N/A 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls EFO_0000692 N/A Associate Schizophrenia rs59979824-C of NONHSAT187912.1 is significantly associated with the schizophrenia by using GWAS analysis in 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls(p-value = 2E-8 ;OR = 1.0638298). 0.4 Genome-wide association study of schizophrenia in Ashkenazi Jews. NCRV0000001624 27863252 NONHSAT157985.1 rs3011641 A N/A 169,545 european ancestry individuals EFO_0007997 N/A Associate Granulocyte percentage of myeloid white cells rs3011641-A of NONHSAT157985.1 is significantly associated with the granulocyte percentage of myeloid white cells by using GWAS analysis in 169,545 european ancestry individuals(p-value = 2E-9 ;OR = 0.02558851). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002028 26343869 NONHSAT168412.1 rs2985684 ? N/A 810 chinese ancestry individuals EFO_0007117 N/A Associate Carotid intima media thickness rs2985684-? of NONHSAT168412.1 is significantly associated with the carotid intima media thickness by using GWAS analysis in 810 chinese ancestry individuals(p-value = 2E-6 ;OR = ?). 0.4 Genome-wide association study on progression of carotid artery intima media thickness over 10 years in a Chinese cohort. NCRV0000002512 22542470 NONHSAT015744.2 rs2860975 ? N/A 217 african american individuals//580 european ancestry individuals//217 hispanic individuals EFO_0004645 N/A Associate Immune response to smallpox vaccine (il-6) rs2860975-? of NONHSAT015744.2 is significantly associated with the immune response to smallpox vaccine (il-6) by using GWAS analysis in 217 african american individuals//580 european ancestry individuals//217 hispanic individuals(p-value = 2E-7 ;OR = ?). 0.4 Genome-wide association study of antibody response to smallpox vaccine. NCRV0000002803 27863252 NONHSAT069783.2 rs11336847 A N/A 170,494 european ancestry individuals EFO_0007989 N/A Associate Monocyte percentage of white cells rs11336847-A of NONHSAT069783.2 is significantly associated with the monocyte percentage of white cells by using GWAS analysis in 170,494 european ancestry individuals(p-value = 1E-34 ;OR = 0.04499914). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003648 23247143 NONHSAT153427.1 rs12725198 A N/A 9,491 european ancestry individuals//up to 2,053 african american individuals EFO_0003914 N/A Associate Cardiac troponin-t levels rs12725198-A of NONHSAT153427.1 is significantly associated with the cardiac troponin-t levels by using GWAS analysis in 9,491 european ancestry individuals//up to 2,053 african american individuals(p-value = 3E-6 ;OR = 1.85). 0.4 Association of genome-wide variation with highly sensitive cardiac troponin-T levels in European Americans and Blacks: a meta-analysis from atherosclerosis risk in communities and cardiovascular health studies. NCRV0000002904 18391951 NONHSAT118823.2 rs798544 G N/A 30,968 european ancestry individuals; 8,541 european ancestry individuals EFO_0004339 N/A Associate Height rs798544-G of NONHSAT118823.2 is significantly associated with the height by using GWAS analysis in 30,968 european ancestry individuals; 8,541 european ancestry individuals(p-value = 7E-15 ;OR = 5.9). 0.4 Many sequence variants affecting diversity of adult human height. NCRV0000000132 26053186 NONHSAT178729.1 rs75000611 ? N/A 362 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//438 european ancestry current smoker individuals//449 latino current smoker individuals//704 japanese ancestry current smoker individuals EFO_0001071 in smokers Associate 3-hydroxypropylmercapturic acid levels in smokers rs75000611-? of NONHSAT178729.1 is significantly associated with the 3-hydroxypropylmercapturic acid levels in smokers by using GWAS analysis in 362 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//438 european ancestry current smoker individuals//449 latino current smoker individuals//704 japanese ancestry current smoker individuals(p-value = 7E-7 ;OR = 0.995). 0.4 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. NCRV0000003659 20713499 NONHSAT192758.1 rs1001021 A N/A 402 european ancestry schizophrenia cases//1,021 european ancestry bipolar i cases//493 european ancestry bipolar ii cases//1,210 european ancestry mdd cases//1,060 european ancestry controls EFO_0003761 N/A Associate Schizophrenia//bipolar disorder and depression (combined) rs1001021-A of NONHSAT192758.1 is significantly associated with the schizophrenia//bipolar disorder and depression (combined) by using GWAS analysis in 402 european ancestry schizophrenia cases//1,021 european ancestry bipolar i cases//493 european ancestry bipolar ii cases//1,210 european ancestry mdd cases//1,060 european ancestry controls(p-value = 2E-6 ;OR = ?). 0.4 Cross-disorder genomewide analysis of schizophrenia, bipolar disorder, and depression. NCRV0000002610 25961943 NONHSAT107886.2 rs3757354 C N/A up 62,166 european ancestry individuals EFO_0000319 N/A Associate Ldl cholesterol rs3757354-C of NONHSAT107886.2 is significantly associated with the ldl cholesterol by using GWAS analysis in up 62,166 european ancestry individuals(p-value = 2E-9 ;OR = 0.043). 0.4 The impact of low-frequency and rare variants on lipid levels. NCRV0000001365 27863252 NONHSAT126295.2 rs2923427 C N/A 172,433 european ancestry individuals EFO_0004526 N/A Associate Mean corpuscular volume rs2923427-C of NONHSAT126295.2 is significantly associated with the mean corpuscular volume by using GWAS analysis in 172,433 european ancestry individuals(p-value = 1E-19 ;OR = 0.0325949). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000623 26562150 NONHSAT216026.1 rs6998967 G N/A 532 european ancestry cases//2,128 european ancestry controls EFO_1001490 N/A Associate Late-onset myasthenia gravis rs6998967-G of NONHSAT216026.1 is significantly associated with the late-onset myasthenia gravis by using GWAS analysis in 532 european ancestry cases//2,128 european ancestry controls(p-value = 9E-10 ;OR = 1.8867927). 0.4 Genome-Wide Association Study of Late-Onset Myasthenia Gravis: Confirmation of TNFRSF11A and Identification of ZBTB10 and Three Distinct HLA Associations. NCRV0000001394 28181694 NONHSAT155410.1 rs149737732 C N/A 488 european ancestry female children//445 european ancestry male children; 245 european ancestry female children//241 european ancestry male children EFO_0007621 N/A Associate Pediatric bone mineral content (radius) rs149737732-C of NONHSAT155410.1 is significantly associated with the pediatric bone mineral content (radius) by using GWAS analysis in 488 european ancestry female children//445 european ancestry male children; 245 european ancestry female children//241 european ancestry male children(p-value = 7E-6 ;OR = 0.372879). 0.4 A Genomewide Association Study Identifies Two Sex-Specific Loci, at SPTB and IZUMO3, Influencing Pediatric Bone Mineral Density at Multiple Skeletal Sites. NCRV0000002744 19767753 NONHSAT217969.1 rs1512268 ? N/A 1,854 european ancestry cases//1,894 european ancestry controls; 19,879 cases and 18,761 controls of european//east asian//african american//latino//and hawaiian ancestry EFO_0001663 N/A Associate Prostate cancer rs1512268-? of NONHSAT217969.1 is significantly associated with the prostate cancer by using GWAS analysis in 1,854 european ancestry cases//1,894 european ancestry controls; 19,879 cases and 18,761 controls of european//east asian//african american//latino//and hawaiian ancestry(p-value = 3E-30 ;OR = 1.18). 0.4 Identification of seven new prostate cancer susceptibility loci through a genome-wide association study. NCRV0000000300 28334899 NONHSAT192799.1 rs5763662 T N/A 32,285 east asian ancestry individuals//173,082 european ancestry individuals; 8,478 chinese ancestry individuals EFO_0000319 N/A Associate Ldl cholesterol levels rs5763662-T of NONHSAT192799.1 is significantly associated with the ldl cholesterol levels by using GWAS analysis in 32,285 east asian ancestry individuals//173,082 european ancestry individuals; 8,478 chinese ancestry individuals(p-value = 3E-9 ;OR = 0.0767). 0.4 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels. NCRV0000000137 21810271 NONHSAT220867.1 rs1757948 G N/A 1,624 european ancestry individuals EFO_0004634 N/A Associate Fviii levels rs1757948-G of NONHSAT220867.1 is significantly associated with the fviii levels by using GWAS analysis in 1,624 european ancestry individuals(p-value = 7E-6 ;OR = 0.15). 0.4 Combined analysis of three genome-wide association studies on vWF and FVIII plasma levels. NCRV0000002334 28067908 NONHSAT191834.1 rs2836878 ? N/A 12,366 european and unknown ancestry cases//33,609 european and unknown ancestry controls EFO_0000729 N/A Associate Ulcerative colitis rs2836878-? of NONHSAT191834.1 is significantly associated with the ulcerative colitis by using GWAS analysis in 12,366 european and unknown ancestry cases//33,609 european and unknown ancestry controls(p-value = 2E-32 ;OR = ?). 0.4 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. NCRV0000002032 29059430 NONHSAT009441.2 rs4342822 G N/A 131 european ancestry cases//493 european ancestry controls EFO_0000305 treated with more than 10 gray radiotherapy Associate Breast cancer in childhood cancer survivors treated with more than 10 gray radiotherapy rs4342822-G of NONHSAT009441.2 is significantly associated with the breast cancer in childhood cancer survivors treated with more than 10 gray radiotherapy by using GWAS analysis in 131 european ancestry cases//493 european ancestry controls(p-value = 7E-9 ;OR = 1.92). 0.4 Genome-Wide Association Study to Identify Susceptibility Loci That Modify Radiation-Related Risk for Breast Cancer After Childhood Cancer.LID - 10.1093/jnci/djx058 [doi]AB - Background: Childhood cancer survivors treated with chest-directed rad NCRV0000002435 25129146 NONHSAT192221.1 rs2239815 T N/A 5,337 han chinese ancestry cases//5,787 han chinese ancestry controls; 9,654 han chinese ancestry cases//10,058 han chinese ancestry controls EFO_0005922 N/A Associate Esophageal squamous cell carcinoma rs2239815-T of NONHSAT192221.1 is significantly associated with the esophageal squamous cell carcinoma by using GWAS analysis in 5,337 han chinese ancestry cases//5,787 han chinese ancestry controls; 9,654 han chinese ancestry cases//10,058 han chinese ancestry controls(p-value = 4E-7 ;OR = 1.16). 0.4 Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations. NCRV0000002043 22699663 NONHSAT181463.1 rs1011108 T N/A 1,020 european ancestry individuals EFO_0000649 N/A Associate Periodontal microbiota rs1011108-T of NONHSAT181463.1 is significantly associated with the periodontal microbiota by using GWAS analysis in 1,020 european ancestry individuals(p-value = 2E-6 ;OR = 1.79). 0.4 Genome-wide association study of periodontal pathogen colonization. NCRV0000001166 25189868 NONHSAT218749.1 rs6989684 ? N/A up to 6,889 individuals EFO_0006335 N/A Associate Blood pressure (smoking interaction) rs6989684-? of NONHSAT218749.1 is significantly associated with the blood pressure (smoking interaction) by using GWAS analysis in up to 6,889 individuals(p-value = 4E-6 ;OR = ?). 0.4 Gene-smoking interactions identify several novel blood pressure loci in the Framingham Heart Study. NCRV0000001784 23251661 NONHSAT184149.1 rs2193071 A N/A 815 hispanic children from 263 families EFO_0003940 N/A Associate Obesity-related traits rs2193071-A of NONHSAT184149.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 4E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. NCRV0000001545 25378659 NONHSAT154486.1 rs7419134 A N/A 10,129 european ancestry individuals EFO_0006796 N/A Associate Very long-chain saturated fatty acid levels (fatty acid 22:0) rs7419134-A of NONHSAT154486.1 is significantly associated with the very long-chain saturated fatty acid levels (fatty acid 22:0) by using GWAS analysis in 10,129 european ancestry individuals(p-value = 2E-6 ;OR = 4.726). 0.4 Genetic loci associated with circulating levels of very long-chain saturated fatty acids. NCRV0000003441 23382691 NONHSAT170386.1 rs2614463 T N/A 2,247 european ancestry individuals EFO_0002690 N/A Associate Igg glycosylation rs2614463-T of NONHSAT170386.1 is significantly associated with the igg glycosylation by using GWAS analysis in 2,247 european ancestry individuals(p-value = 7E-6 ;OR = 0.1731). 0.4 Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. NCRV0000003303 27622933 NONHSAT196346.1 rs142484554 ? N/A 2,963 european ancestry responder cases//2,005 european ancestry non-responder cases EFO_0003761 N/A Associate Response to citalopram or escitalopram in depression rs142484554-? of NONHSAT196346.1 is significantly associated with the response to citalopram or escitalopram in depression by using GWAS analysis in 2,963 european ancestry responder cases//2,005 european ancestry non-responder cases(p-value = 3E-7 ;OR = 1.459854). 0.4 Analysis of 23andMe antidepressant efficacy survey data: implication of circadian rhythm and neuroplasticity in bupropion response. NCRV0000002476 27863252 NONHSAT168656.1 rs175714 C N/A 171,643 european ancestry individuals EFO_0004587 N/A Associate Lymphocyte counts rs175714-C of NONHSAT168656.1 is significantly associated with the lymphocyte counts by using GWAS analysis in 171,643 european ancestry individuals(p-value = 3E-11 ;OR = 0.02436534). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000233 19798445 NONHSAT188483.1 rs680379 A N/A 4,110 european ancestry individuals EFO_0000677 N/A Associate Sphingolipid levels rs680379-A of NONHSAT188483.1 is significantly associated with the sphingolipid levels by using GWAS analysis in 4,110 european ancestry individuals(p-value = 8E-15 ;OR = 0.1). 0.4 Genetic determinants of circulating sphingolipid concentrations in European populations. NCRV0000002151 27863252 NONHSAT069783.2 rs11336847 A N/A 169,545 european ancestry individuals EFO_0007997 N/A Associate Granulocyte percentage of myeloid white cells rs11336847-A of NONHSAT069783.2 is significantly associated with the granulocyte percentage of myeloid white cells by using GWAS analysis in 169,545 european ancestry individuals(p-value = 1E-27 ;OR = 0.04012582). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002267 25673412 NONHSAT192305.1 rs1053593 T N/A up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women EFO_0007788 N/A Associate Waist-to-hip ratio adjusted for body mass index rs1053593-T of NONHSAT192305.1 is significantly associated with the waist-to-hip ratio adjusted for body mass index by using GWAS analysis in up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women(p-value = 8E-6 ;OR = 0.0206). 0.4 New genetic loci link adipose and insulin biology to body fat distribution. NCRV0000003700 22747683 NONHSAT182525.1 rs4849887 T N/A 16,175 european ancestry female individuals EFO_0004884 N/A Associate Breast size rs4849887-T of NONHSAT182525.1 is significantly associated with the breast size by using GWAS analysis in 16,175 european ancestry female individuals(p-value = 3E-11 ;OR = 0.166). 0.4 Genetic variants associated with breast size also influence breast cancer risk. NCRV0000003046 24837172 NONHSAT108777.2 rs3749946 A N/A 603 north indian ancestry cases//622 north indian ancestry controls; 733 north indian ancestry cases//1,148 north indian ancestry controls EFO_0000729 N/A Associate Ulcerative colitis rs3749946-A of NONHSAT108777.2 is significantly associated with the ulcerative colitis by using GWAS analysis in 603 north indian ancestry cases//622 north indian ancestry controls; 733 north indian ancestry cases//1,148 north indian ancestry controls(p-value = 2E-15 ;OR = 1.97). 0.4 Genome-wide association scan in north Indians reveals three novel HLA-independent risk loci for ulcerative colitis. NCRV0000003345 29030599 NONHSAT179793.1 rs429358 C N/A up to 586,626 european ancestry individuals//up to 19,433 african ancestry individuals EFO_0007796 N/A Associate Parental lifespan rs429358-C of NONHSAT179793.1 is significantly associated with the parental lifespan by using GWAS analysis in up to 586,626 european ancestry individuals//up to 19,433 african ancestry individuals(p-value = 1E-27 ;OR = 0.9). 0.4 Genome-wide meta-analysis associates HLA-DQA1/DRB1 and LPA and lifestyle factors with human longevity. NCRV0000000936 26634245 NONHSAT202557.1 rs76881288 G N/A 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio in copd rs76881288-G of NONHSAT202557.1 is significantly associated with the post bronchodilator fev1/fvc ratio in copd by using GWAS analysis in 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases(p-value = 2E-6 ;OR = 0.068). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000003506 25939597 NONHSAT223344.1 rs2807031 C N/A 4,600 european ancestry cases//2,941 european ancestry controls; 7,779 european ancestry cases//7,623 european ancestry controls EFO_0001663 N/A Associate Prostate cancer rs2807031-C of NONHSAT223344.1 is significantly associated with the prostate cancer by using GWAS analysis in 4,600 european ancestry cases//2,941 european ancestry controls; 7,779 european ancestry cases//7,623 european ancestry controls(p-value = 4E-6 ;OR = 1.15). 0.4 Two susceptibility loci identified for prostate cancer aggressiveness. NCRV0000000217 27182965 NONHSAT106677.2 rs7763441 ? N/A 69,284 european ancestry individuals EFO_0007906 N/A Associate Monobrow rs7763441-? of NONHSAT106677.2 is significantly associated with the monobrow by using GWAS analysis in 69,284 european ancestry individuals(p-value = 4E-13 ;OR = 0.027). 0.4 Detection and interpretation of shared genetic influences on 42 human traits. NCRV0000000762 28540026 NONHSAT172389.1 rs35828350 ? N/A up to 6,197 european ancestry asd cases//up to 7,377 european ancestry controls//up to 1,190 asd cases//up to 1,190 controls EFO_0003756 N/A Associate Autism spectrum disorder rs35828350-? of NONHSAT172389.1 is significantly associated with the autism spectrum disorder by using GWAS analysis in up to 6,197 european ancestry asd cases//up to 7,377 european ancestry controls//up to 1,190 asd cases//up to 1,190 controls(p-value = 6E-11 ;OR = 1.0752687). 0.4 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. NCRV0000000356 22703881 NONHSAT196718.1 rs710446 C N/A 9,240 european ancestry individuals; 2611 european ancestry individuals EFO_0000378 N/A Associate Activated partial thromboplastin time rs710446-C of NONHSAT196718.1 is significantly associated with the activated partial thromboplastin time by using GWAS analysis in 9,240 european ancestry individuals; 2611 european ancestry individuals(p-value = 2E-203 ;OR = 1.18). 0.4 Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease. NCRV0000000720 27863252 NONHSAT055443.2 rs60432162 C N/A 171,771 european ancestry individuals EFO_0009389 N/A Associate Sum eosinophil basophil counts rs60432162-C of NONHSAT055443.2 is significantly associated with the sum eosinophil basophil counts by using GWAS analysis in 171,771 european ancestry individuals(p-value = 2E-17 ;OR = 0.0388262). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003574 28073927 NONHSAT200309.1 rs10021731 C N/A 20,373 european ancestry individuals//2,131 erasmus rucphen (founder/genetic isolate) individuals; 7,302 asian ancestry individuals EFO_0004190 N/A Associate Optic disc area rs10021731-C of NONHSAT200309.1 is significantly associated with the optic disc area by using GWAS analysis in 20,373 european ancestry individuals//2,131 erasmus rucphen (founder/genetic isolate) individuals; 7,302 asian ancestry individuals(p-value = 2E-8 ;OR = 0.025). 0.4 New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics. NCRV0000001620 28654678 NONHSAT108733.2 rs1062630 ? N/A 389 east asian ancestry individuals//189 south asian ancestry individuals//492 european ancestry individuals//467 sub-saharan african ancestry individuals//59 african american individuals//157 hispanic/latino individuals EFO_0000769 N/A Associate Epstein-barr virus copy number in lymphoblastoid cell lines rs1062630-? of NONHSAT108733.2 is significantly associated with the epstein-barr virus copy number in lymphoblastoid cell lines by using GWAS analysis in 389 east asian ancestry individuals//189 south asian ancestry individuals//492 european ancestry individuals//467 sub-saharan african ancestry individuals//59 african american individuals//157 hispanic/latino individuals(p-value = 1E-6 ;OR = ?). 0.4 Genetic factors affecting EBV copy number in lymphoblastoid cell lines derived from the 1000 Genome Project samples. NCRV0000002130 28166213 NONHSAT160875.1 rs567508 A N/A 48,943 european ancestry individuals.; 57,176 european ancestry individuals//38,199 individuals. EFO_0000341 N/A Associate Lung function (fev1) rs567508-A of NONHSAT160875.1 is significantly associated with the lung function (fev1) by using GWAS analysis in 48,943 european ancestry individuals.; 57,176 european ancestry individuals//38,199 individuals.(p-value = 5E-10 ;OR = 0.034). 0.4 Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets. NCRV0000000914 21184583 NONHSAT189057.1 rs13831 T N/A 431 european ancestry alcohol dependence cases//340 european ancestry controls//209 african american alcohol dependence cases//84 african american controls; 683 alcohol dependence cases and 412 controls from multiplex families EFO_0004358 N/A Associate Event-related brain oscillations rs13831-T of NONHSAT189057.1 is significantly associated with the event-related brain oscillations by using GWAS analysis in 431 european ancestry alcohol dependence cases//340 european ancestry controls//209 african american alcohol dependence cases//84 african american controls; 683 alcohol dependence cases and 412 controls from multiplex families(p-value = 6E-6 ;OR = 0.21). 0.4 Genome-wide association study of theta band event-related oscillations identifies serotonin receptor gene HTR7 influencing risk of alcohol dependence. NCRV0000001322 21647738 NONHSAT031256.2 rs7305618 T N/A 1,709 filipino ancestry female individuals EFO_0000195 N/A Associate C-reactive protein rs7305618-T of NONHSAT031256.2 is significantly associated with the c-reactive protein by using GWAS analysis in 1,709 filipino ancestry female individuals(p-value = 1E-8 ;OR = 0.267). 0.4 Genome-wide association with C-reactive protein levels in CLHNS: evidence for the CRP and HNF1A loci and their interaction with exposure to a pathogenic environment. NCRV0000002116 26634245 NONHSAT172351.1 rs2036527NR ? N/A 6,659 european ancestry current and former smoker individuals EFO_0003892 N/A Associate Pre bronchodilator fev1 rs2036527NR-? of NONHSAT172351.1 is significantly associated with the pre bronchodilator fev1 by using GWAS analysis in 6,659 european ancestry current and former smoker individuals(p-value = 2E-9 ;OR = 0.08021). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000003651 27539887 NONHSAT023550.2 rs1126809 A N/A 12.945 european ancestry cases//274,252 european ancestry controls; 4,242 european ancestry cases//12,802 european ancestry controls EFO_0004193 N/A Associate Basal cell carcinoma rs1126809-A of NONHSAT023550.2 is significantly associated with the basal cell carcinoma by using GWAS analysis in 12.945 european ancestry cases//274,252 european ancestry controls; 4,242 european ancestry cases//12,802 european ancestry controls(p-value = 3E-19 ;OR = 1.12). 0.4 Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma. NCRV0000000899 27225129 NONHSAT208796.1 rs7776010 T N/A 405,072 european ancestry individuals EFO_0004784 N/A Associate Educational attainment (years of education) rs7776010-T of NONHSAT208796.1 is significantly associated with the educational attainment (years of education) by using GWAS analysis in 405,072 european ancestry individuals(p-value = 3E-12 ;OR = 0.021022316). 0.4 Genome-wide association study identifies 74 loci associated with educational attainment. NCRV0000000922 22864933 NONHSAT182531.1 rs4848143 ? N/A up to 84 east asian ancestry lymphoblastoid cell lines//up to 164 european ancestry lymphoblastoid cell lines//up to 173 african ancestry lymphoblastoid cell lines//up to 82 african american lymphoblastoid cell lines GO_0097327 N/A Associate Capecitabine sensitivity rs4848143-? of NONHSAT182531.1 is significantly associated with the capecitabine sensitivity by using GWAS analysis in up to 84 east asian ancestry lymphoblastoid cell lines//up to 164 european ancestry lymphoblastoid cell lines//up to 173 african ancestry lymphoblastoid cell lines//up to 82 african american lymphoblastoid cell lines(p-value = 9E-6 ;OR = ?). 0.4 Identification of novel germline polymorphisms governing capecitabine sensitivity. NCRV0000003148 25087078 NONHSAT183033.1 rs12987787 T N/A 405 european ancestry cases//127 african american cases//248 cases//2,330 european ancestry genetic generalised epilepsy cases//81 african american genetic generalised epilepsy cases//195 genetic generalised epilepsy cases//3,277 european ancestry focal epilepsy cases//222 african american focal epilepsy cases//487 han chinese ancestry focal epilepsy cases//1,324 focal epilepsy cases//up to 17,441 european ancestry controls//up to 2,843 african american controls//up to 2,875 han chinese ancestry controls//up to 2,998 controls EFO_0004263 N/A Associate Epilepsy rs12987787-T of NONHSAT183033.1 is significantly associated with the epilepsy by using GWAS analysis in 405 european ancestry cases//127 african american cases//248 cases//2,330 european ancestry genetic generalised epilepsy cases//81 african american genetic generalised epilepsy cases//195 genetic generalised epilepsy cases//3,277 european ancestry focal epilepsy cases//222 african american focal epilepsy cases//487 han chinese ancestry focal epilepsy cases//1,324 focal epilepsy cases//up to 17,441 european ancestry controls//up to 2,843 african american controls//up to 2,875 han chinese ancestry controls//up to 2,998 controls(p-value = 1E-7 ;OR = 1.12). 0.4 Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies. NCRV0000000242 22589738 NONHSAT186701.1 rs7602441 G N/A 5,560 european ancestry female individuals//4,997 european ancestry male individuals EFO_0004765 adjusted for BMI Associate Visceral adipose tissue adjusted for bmi rs7602441-G of NONHSAT186701.1 is significantly associated with the visceral adipose tissue adjusted for bmi by using GWAS analysis in 5,560 european ancestry female individuals//4,997 european ancestry male individuals(p-value = 7E-6 ;OR = ?). 0.4 Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. NCRV0000003942 26910538 NONHSAT130002.2 rs7043199 A N/A 9541 european ancestry individuals//1,115 cilento (founder/genetic isolated) individuals//897 ogliastran (founder/genetic isolated) individuals//1,759 val borbera (founder/genetic isolated) individuals; 2,141 european ancestry individuals//659 sorbian (founder/genetic isolated) individuals EFO_0004762 N/A Associate Vascular endothelial growth factor levels rs7043199-A of NONHSAT130002.2 is significantly associated with the vascular endothelial growth factor levels by using GWAS analysis in 9541 european ancestry individuals//1,115 cilento (founder/genetic isolated) individuals//897 ogliastran (founder/genetic isolated) individuals//1,759 val borbera (founder/genetic isolated) individuals; 2,141 european ancestry individuals//659 sorbian (founder/genetic isolated) individuals(p-value = 4E-14 ;OR = 0.1). 0.4 Six Novel Loci Associated with Circulating VEGF Levels Identified by a Meta-analysis of Genome-Wide Association Studies. NCRV0000001218 25643325 NONHSAT210400.1 rs9270986 A N/A 972 european ancestry cases//1,977 european ancestry controls; 423 european ancestry cases//467 european ancestry controls EFO_0004991 N/A Associate Myasthenia gravis rs9270986-A of NONHSAT210400.1 is significantly associated with the myasthenia gravis by using GWAS analysis in 972 european ancestry cases//1,977 european ancestry controls; 423 european ancestry cases//467 european ancestry controls(p-value = 6E-8 ;OR = 1.43). 0.4 A genome-wide association study of myasthenia gravis. NCRV0000003947 26252872 NONHSAT150046.1 rs115199861 C N/A 472 european ancestry cases//47 cases HP_0100543 N/A Associate Cognitive decline rate in late mild cognitive impairment rs115199861-C of NONHSAT150046.1 is significantly associated with the cognitive decline rate in late mild cognitive impairment by using GWAS analysis in 472 european ancestry cases//47 cases(p-value = 1E-7 ;OR = 0.5796). 0.4 Variations in the FRA10AC1 Fragile Site and 15q21 Are Associated with Cerebrospinal Fluid Abeta1-42 Level. NCRV0000002173 28448500 NONHSAT112682.2 rs2033529 ? N/A 2,518 african american women//86,278 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//55,137 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men EFO_0001073 joint analysis main effects and physical activity interaction Associate Body mass index (joint analysis main effects and physical activity interaction) rs2033529-? of NONHSAT112682.2 is significantly associated with the body mass index (joint analysis main effects and physical activity interaction) by using GWAS analysis in 2,518 african american women//86,278 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//55,137 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men(p-value = 3E-8 ;OR = ?). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. NCRV0000002239 28928442 NONHSAT169617.1 rs12884098 ? N/A 12,000 european ancestry cases//71,597 european ancestry controls EFO_0008418 N/A Associate Rubella rs12884098-? of NONHSAT169617.1 is significantly associated with the rubella by using GWAS analysis in 12,000 european ancestry cases//71,597 european ancestry controls(p-value = 6E-6 ;OR = 0.1834). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. NCRV0000003562 28443625 NONHSAT170927.1 rs1440372 T N/A 95,362 european ancestry women//62,085 european ancestry men//5,829 european ancestry individuals//10,500 african american/afro-caribbean ancestry women//2,706 african american/afro-caribbean ancestry men//1,030 indian asian ancestry women//7,648 indian asian ancestry men//1,793 filipino ancestry women//2,944 hispanic/latino ancestry women//1,764 hispanic/latino ancestry men; 21,496 european ancestry women//24,385 european ancestry men//118,364 european ancestry individuals//2,326 african american/afro-caribbean ancestry women//855 african american/afro-caribbean ancestry men EFO_0007788 adjusted for smoking behaviour Associate Waist-to-hip ratio adjusted for bmi (adjusted for smoking behaviour) rs1440372-T of NONHSAT170927.1 is significantly associated with the waist-to-hip ratio adjusted for bmi (adjusted for smoking behaviour) by using GWAS analysis in 95,362 european ancestry women//62,085 european ancestry men//5,829 european ancestry individuals//10,500 african american/afro-caribbean ancestry women//2,706 african american/afro-caribbean ancestry men//1,030 indian asian ancestry women//7,648 indian asian ancestry men//1,793 filipino ancestry women//2,944 hispanic/latino ancestry women//1,764 hispanic/latino ancestry men; 21,496 european ancestry women//24,385 european ancestry men//118,364 european ancestry individuals//2,326 african american/afro-caribbean ancestry women//855 african american/afro-caribbean ancestry men(p-value = 7E-6 ;OR = 0.0177). 0.4 Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. NCRV0000002943 27863252 NONHSAT188655.1 rs6141743 G N/A 170,763 european ancestry individuals EFO_0007986 N/A Associate High light scatter reticulocyte count rs6141743-G of NONHSAT188655.1 is significantly associated with the high light scatter reticulocyte count by using GWAS analysis in 170,763 european ancestry individuals(p-value = 8E-9 ;OR = 0.02472932). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001872 27863252 NONHSAT192221.1 rs5762813 T N/A 172,925 european ancestry individuals EFO_0004509 N/A Associate Hemoglobin concentration rs5762813-T of NONHSAT192221.1 is significantly associated with the hemoglobin concentration by using GWAS analysis in 172,925 european ancestry individuals(p-value = 5E-11 ;OR = 0.03005343). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001677 24024966 NONHSAT058741.2 rs8097810 A N/A up to 4,032 european ancestry individuals EFO_0000649 N/A Associate Periodontitis (mean pal) rs8097810-A of NONHSAT058741.2 is significantly associated with the periodontitis (mean pal) by using GWAS analysis in up to 4,032 european ancestry individuals(p-value = 4E-6 ;OR = 0.105). 0.4 Genome-wide association study of chronic periodontitis in a general German population. NCRV0000001460 19838193 NONHSAT141784.2 rs7186852 A N/A 1,047 han chinese ancestry cases//1,205 han chinese ancestry controls; 3,152 han chinese ancestry cases//7,050 han chinese ancestry controls EFO_0002690 N/A Associate Systemic lupus erythematosus rs7186852-A of NONHSAT141784.2 is significantly associated with the systemic lupus erythematosus by using GWAS analysis in 1,047 han chinese ancestry cases//1,205 han chinese ancestry controls; 3,152 han chinese ancestry cases//7,050 han chinese ancestry controls(p-value = 3E-7 ;OR = 1.29). 0.4 Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus. NCRV0000001993 27989323 NONHSAT189104.1 rs1202138 G N/A 843 finnish ancestry individuals EFO_0005140 N/A Associate Monocyte chemoattractant protein-3 levels rs1202138-G of NONHSAT189104.1 is significantly associated with the monocyte chemoattractant protein-3 levels by using GWAS analysis in 843 finnish ancestry individuals(p-value = 8E-6 ;OR = 0.4782). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. NCRV0000001870 23728906 NONHSAT091125.2 rs679711 T N/A 2,314 european ancestry individuals EFO_0005273 N/A Associate Sleep depth rs679711-T of NONHSAT091125.2 is significantly associated with the sleep depth by using GWAS analysis in 2,314 european ancestry individuals(p-value = 1E-6 ;OR = 0.1). 0.4 A genome-wide association study of sleep habits and insomnia. NCRV0000002139 28604730 NONHSAT004062.2 rs34517439 A N/A 11,273 european ancestry cases// 55,483 european ancestry controls EFO_0000571 N/A Associate Lung adenocarcinoma rs34517439-A of NONHSAT004062.2 is significantly associated with the lung adenocarcinoma by using GWAS analysis in 11,273 european ancestry cases// 55,483 european ancestry controls(p-value = 4E-8 ;OR = 1.1652228). 0.4 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. NCRV0000003173 22267201 NONHSAT105374.2 rs365132 T N/A 38,968 european ancestry female individuals; up to 14,435 european ancestry female individuals EFO_0004704 N/A Associate Menopause (age at onset) rs365132-T of NONHSAT105374.2 is significantly associated with the menopause (age at onset) by using GWAS analysis in 38,968 european ancestry female individuals; up to 14,435 european ancestry female individuals(p-value = 9E-32 ;OR = 0.287). 0.4 Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. NCRV0000001639 28604730 NONHSAT042085.2 rs2439831 C N/A 23,223 european ancestry cases// 16,964 european ancestry controls EFO_0001071 in ever smokers Associate Lung cancer in ever smokers rs2439831-C of NONHSAT042085.2 is significantly associated with the lung cancer in ever smokers by using GWAS analysis in 23,223 european ancestry cases// 16,964 european ancestry controls(p-value = 4E-6 ;OR = 1.1158895). 0.4 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. NCRV0000000179 22001757 NONHSAT067101.2 rs281377 T N/A up to 52,350 european ancestry individuals//up to 8,739 indian asian ancestry individuals EFO_0001421 N/A Associate Liver enzyme levels (alkaline phosphatase) rs281377-T of NONHSAT067101.2 is significantly associated with the liver enzyme levels (alkaline phosphatase) by using GWAS analysis in up to 52,350 european ancestry individuals//up to 8,739 indian asian ancestry individuals(p-value = 1E-15 ;OR = 1.8). 0.4 Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. NCRV0000000986 21297633 NONHSAT189170.1 rs2297441 A N/A 6,687 european ancestry cases//19,718 european ancestry controls; 9,628 european ancestry cases//12,917 european ancestry controls EFO_0000729 N/A Associate Ulcerative colitis rs2297441-A of NONHSAT189170.1 is significantly associated with the ulcerative colitis by using GWAS analysis in 6,687 european ancestry cases//19,718 european ancestry controls; 9,628 european ancestry cases//12,917 european ancestry controls(p-value = 2E-10 ;OR = 1.09). 0.4 Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. NCRV0000001246 27863252 NONHSAT182392.1 rs1448203 C N/A 172,433 european ancestry individuals EFO_0004526 N/A Associate Mean corpuscular volume rs1448203-C of NONHSAT182392.1 is significantly associated with the mean corpuscular volume by using GWAS analysis in 172,433 european ancestry individuals(p-value = 6E-33 ;OR = 0.06338378). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000316 25187374 NONHSAT181702.1 rs895636 ? N/A 24,740 east asian ancestry individuals; 21,345 east asian ancestry individuals EFO_0001360 N/A Associate Fasting plasma glucose rs895636-? of NONHSAT181702.1 is significantly associated with the fasting plasma glucose by using GWAS analysis in 24,740 east asian ancestry individuals; 21,345 east asian ancestry individuals(p-value = 3E-13 ;OR = 0.069). 0.4 Genome-wide association meta-analysis identifies novel variants associated with fasting plasma glucose in East Asians. NCRV0000000793 27863252 NONHSAT145456.2 rs377079849 C N/A 170,384 european ancestry individuals EFO_0009390 N/A Associate Sum neutrophil eosinophil counts rs377079849-C of NONHSAT145456.2 is significantly associated with the sum neutrophil eosinophil counts by using GWAS analysis in 170,384 european ancestry individuals(p-value = 2E-9 ;OR = 0.02337324). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002131 20418890 NONHSAT135331.2 rs3025343 G N/A up to 74,035 european ancestry individuals; up to 68,988 participants EFO_0004318 N/A Associate Smoking behavior rs3025343-G of NONHSAT135331.2 is significantly associated with the smoking behavior by using GWAS analysis in up to 74,035 european ancestry individuals; up to 68,988 participants(p-value = 4E-8 ;OR = 1.12). 0.4 Genome-wide meta-analyses identify multiple loci associated with smoking behavior. NCRV0000001501 27863252 NONHSAT184477.1 rs4670779 T N/A 166,066 european ancestry individuals EFO_0004309 N/A Associate Platelet count rs4670779-T of NONHSAT184477.1 is significantly associated with the platelet count by using GWAS analysis in 166,066 european ancestry individuals(p-value = 9E-10 ;OR = 0.02442774). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003629 26634245 NONHSAT023893.2 rs646760 A N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs646760-A of NONHSAT023893.2 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 2E-7 ;OR = 0.016). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000000864 27989323 NONHSAT191462.1 rs2836049 C N/A 3,505 finnish ancestry individuals EFO_0000540 N/A Associate Growth-regulated protein alpha levels rs2836049-C of NONHSAT191462.1 is significantly associated with the growth-regulated protein alpha levels by using GWAS analysis in 3,505 finnish ancestry individuals(p-value = 7E-6 ;OR = 0.1896). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. NCRV0000001957 27262462 NONHSAT053287.2 rs11651052 A N/A 2,511 european ancestry cases//1,382 european ancestry controls EFO_0001663 N/A Associate Prostate cancer rs11651052-A of NONHSAT053287.2 is significantly associated with the prostate cancer by using GWAS analysis in 2,511 european ancestry cases//1,382 european ancestry controls(p-value = 3E-10 ;OR = 1.37). 0.4 Genome-wide association of familial prostate cancer cases identifies evidence for a rare segregating haplotype at 8q24.21. NCRV0000002753 23251661 NONHSAT190197.1 rs4815191 A N/A 815 hispanic children from 263 families EFO_0004730 N/A Associate Obesity-related traits rs4815191-A of NONHSAT190197.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 6E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. NCRV0000001881 25826619 NONHSAT161267.1 rs11263654 C N/A 2,215 western european ancestry cases//8,566 western european ancestry controls; 2,844 european ancestry cases//7,270 european ancestry controls EFO_0000681 N/A Associate Renal cell carcinoma rs11263654-C of NONHSAT161267.1 is significantly associated with the renal cell carcinoma by using GWAS analysis in 2,215 western european ancestry cases//8,566 western european ancestry controls; 2,844 european ancestry cases//7,270 european ancestry controls(p-value = 1E-9 ;OR = 1.53). 0.4 Common variation at 1q24.1 (ALDH9A1) is a potential risk factor for renal cancer. NCRV0000001971 22399527 NONHSAT108777.2 rs3099844 A N/A 2,637 european ancestry cases//7,927 european ancestry controls EFO_0000195 N/A Associate Metabolic syndrome rs3099844-A of NONHSAT108777.2 is significantly associated with the metabolic syndrome by using GWAS analysis in 2,637 european ancestry cases//7,927 european ancestry controls(p-value = 2E-8 ;OR = 0.15). 0.4 Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits. NCRV0000002992 23358156 NONHSAT216221.1 rs2981205 T N/A 12,441 european ancestry children; 5,548 european ancestry children EFO_0004337 N/A Associate Intelligence (childhood) rs2981205-T of NONHSAT216221.1 is significantly associated with the intelligence (childhood) by using GWAS analysis in 12,441 european ancestry children; 5,548 european ancestry children(p-value = 5E-6 ;OR = 0.06). 0.4 Childhood intelligence is heritable, highly polygenic and associated with FNBP1L. NCRV0000003310 26480920 NONHSAT217720.1 rs16910486 A N/A 1,152 european ancestry males//1,361 european ancestry females EFO_0004765 N/A Associate Visceral adipose tissue rs16910486-A of NONHSAT217720.1 is significantly associated with the visceral adipose tissue by using GWAS analysis in 1,152 european ancestry males//1,361 european ancestry females(p-value = 6E-7 ;OR = 0.07). 0.4 Genome-wide association studies suggest sex-specific loci associated with abdominal and visceral fat. NCRV0000003356 28240269 NONHSAT207112.1 rs2227955 G N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008140 N/A Associate Blood protein levels rs2227955-G of NONHSAT207112.1 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 4E-9 ;OR = 0.8484). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. NCRV0000002678 19744961 NONHSAT067101.2 rs602662 ? N/A 3,305 european ancestry females//1,458 european ancestry males EFO_0004620 N/A Associate Folate pathway vitamin levels rs602662-? of NONHSAT067101.2 is significantly associated with the folate pathway vitamin levels by using GWAS analysis in 3,305 european ancestry females//1,458 european ancestry males(p-value = 2E-15 ;OR = 0.07). 0.4 Genome-wide significant predictors of metabolites in the one-carbon metabolism pathway. NCRV0000000943 26352407 NONHSAT099998.2 rs11133665 A N/A 3,861 european ancestry individuals; 1,691european ancestry individuals EFO_0005116 N/A Associate Urinary metabolites rs11133665-A of NONHSAT099998.2 is significantly associated with the urinary metabolites by using GWAS analysis in 3,861 european ancestry individuals; 1,691european ancestry individuals(p-value = 2E-26 ;OR = 0.1569). 0.4 Genome-Wide Association Study with Targeted and Non-targeted NMR Metabolomics Identifies 15 Novel Loci of Urinary Human Metabolic Individuality. NCRV0000003638 27863252 NONHSAT188791.1 rs4142441 G N/A 170,494 european ancestry individuals EFO_0007989 N/A Associate Monocyte percentage of white cells rs4142441-G of NONHSAT188791.1 is significantly associated with the monocyte percentage of white cells by using GWAS analysis in 170,494 european ancestry individuals(p-value = 3E-19 ;OR = 0.04533454). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000937 24152035 NONHSAT152223.1 rs1797052 ? N/A 985 european ancestry individuals EFO_0005419 N/A Associate Contrast sensitivity rs1797052-? of NONHSAT152223.1 is significantly associated with the contrast sensitivity by using GWAS analysis in 985 european ancestry individuals(p-value = 8E-9 ;OR = 5.72). 0.4 Variants in the 1q21 risk region are associated with a visual endophenotype of autism and schizophrenia. NCRV0000000933 28577822 NONHSAT034250.2 rs9564655 ? N/A 310 european ancestry alzheimer's disease individuals//511 european ancestry individuals with late mild cognitive impairment//280 european ancestry individuals with early mild cognitive impairment//94 european ancestry individuals with significant memory concern//365 european ancestry individuals with normal cognition EFO_0004333 N/A Associate Language performance in older adults (adjusted for episodic memory) rs9564655-? of NONHSAT034250.2 is significantly associated with the language performance in older adults (adjusted for episodic memory) by using GWAS analysis in 310 european ancestry alzheimer's disease individuals//511 european ancestry individuals with late mild cognitive impairment//280 european ancestry individuals with early mild cognitive impairment//94 european ancestry individuals with significant memory concern//365 european ancestry individuals with normal cognition(p-value = 2E-6 ;OR = 0.3). 0.4 Genome-wide association study of language performance in Alzheimer's disease. NCRV0000002516 23534349 NONHSAT080219.2 rs237450 A N/A 455 african american individuals EFO_0004278 N/A Associate Qt interval rs237450-A of NONHSAT080219.2 is significantly associated with the qt interval by using GWAS analysis in 455 african american individuals(p-value = 5E-6 ;OR = 6.86). 0.4 Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans. NCRV0000003717 24390342 NONHSAT169776.1 rs2582532 C N/A up to 14,361 european ancestry cases//up to 42,923 european ancestry controls//up to 4,873 east asian ancestry cases//up to 17,642 east asian ancestry controls; up to 3,775 european ancestry cases//up to 5,801 european ancestry controls//up to 6,871 east asian ancestry cases//up to 6,392 east asian ancestry controls EFO_0000685 N/A Associate Rheumatoid arthritis rs2582532-C of NONHSAT169776.1 is significantly associated with the rheumatoid arthritis by using GWAS analysis in up to 14,361 european ancestry cases//up to 42,923 european ancestry controls//up to 4,873 east asian ancestry cases//up to 17,642 east asian ancestry controls; up to 3,775 european ancestry cases//up to 5,801 european ancestry controls//up to 6,871 east asian ancestry cases//up to 6,392 east asian ancestry controls(p-value = 5E-8 ;OR = 1.18). 0.4 Genetics of rheumatoid arthritis contributes to biology and drug discovery. NCRV0000003934 20834067 NONHSAT165172.1 rs6489785 ? N/A 1,173 individuals EFO_0004300 N/A Associate Longevity rs6489785-? of NONHSAT165172.1 is significantly associated with the longevity by using GWAS analysis in 1,173 individuals(p-value = 1E-6 ;OR = ?). 0.4 Joint influence of small-effect genetic variants on human longevity. NCRV0000002750 26634245 NONHSAT187459.1 rs142412198 A N/A 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio in copd rs142412198-A of NONHSAT187459.1 is significantly associated with the post bronchodilator fev1/fvc ratio in copd by using GWAS analysis in 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases(p-value = 1E-6 ;OR = 0.388). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000003590 23028342 NONHSAT189084.1 rs11698685 G N/A up to 2,916 european ancestry type 1 diabetes cases with nephropathy//3,315 european ancestry type 1 diabetes cases without nephropathy; up to 1,493 european ancestry type 1 diabetes cases with nephropathy//3,191 european ancestry type 1 diabetes cases without nephropathy EFO_0004996 N/A Associate Type 1 diabetes nephropathy rs11698685-G of NONHSAT189084.1 is significantly associated with the type 1 diabetes nephropathy by using GWAS analysis in up to 2,916 european ancestry type 1 diabetes cases with nephropathy//3,315 european ancestry type 1 diabetes cases without nephropathy; up to 1,493 european ancestry type 1 diabetes cases with nephropathy//3,191 european ancestry type 1 diabetes cases without nephropathy(p-value = 1E-6 ;OR = 1.27). 0.4 New susceptibility loci associated with kidney disease in type 1 diabetes. NCRV0000002627 29186694 NONHSAT167990.1 rs2252003 ? N/A 107,207 european ancestry individuals EFO_0008354 N/A Associate Cognitive ability rs2252003-? of NONHSAT167990.1 is significantly associated with the cognitive ability by using GWAS analysis in 107,207 european ancestry individuals(p-value = 2E-10 ;OR = 6.367). 0.4 Large-Scale Cognitive GWAS Meta-Analysis Reveals Tissue-Specific Neural Expression and Potential Nootropic Drug Targets. NCRV0000000860 26701879 NONHSAT152363.1 rs4072037 T N/A 2,031 han chinese ancestry cases//4,970 han chinese ancestry controls; 3,564 han chinese ancestry cases//4,637 han chinese ancestry controls EFO_0000178 N/A Associate Non-cardia gastric cancer rs4072037-T of NONHSAT152363.1 is significantly associated with the non-cardia gastric cancer by using GWAS analysis in 2,031 han chinese ancestry cases//4,970 han chinese ancestry controls; 3,564 han chinese ancestry cases//4,637 han chinese ancestry controls(p-value = 6E-17 ;OR = 1.3513513). 0.4 Identification of new susceptibility loci for gastric non-cardia adenocarcinoma: pooled results from two Chinese genome-wide association studies. NCRV0000000046 24952745 NONHSAT152517.1 rs12061601 C N/A up to 70,389 european ancestry individuals//up to 672 orcadian individuals; up to 33,316 european ancestry individuals EFO_0004278 N/A Associate Qt interval rs12061601-C of NONHSAT152517.1 is significantly associated with the qt interval by using GWAS analysis in up to 70,389 european ancestry individuals//up to 672 orcadian individuals; up to 33,316 european ancestry individuals(p-value = 3E-21 ;OR = 1.41). 0.4 Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. NCRV0000003859 27171184 NONHSAT151158.1 rs10127456 T N/A 11 taiwanese ancestry cases//146 taiwanese ancestry controls EFO_0004246 N/A Associate Coronary artery aneurysm in kawasaki disease rs10127456-T of NONHSAT151158.1 is significantly associated with the coronary artery aneurysm in kawasaki disease by using GWAS analysis in 11 taiwanese ancestry cases//146 taiwanese ancestry controls(p-value = 1E-6 ;OR = 16.0). 0.4 Genome-Wide Association Study Identifies Novel Susceptibility Genes Associated with Coronary Artery Aneurysm Formation in Kawasaki Disease. NCRV0000003326 27629369 NONHSAT210735.1 rs17718467 ? N/A 8,490 european ancestry individuals//1,228 african american individuals//867 hispanic american individuals//175 individuals EFO_0007865 N/A Associate Loneliness rs17718467-? of NONHSAT210735.1 is significantly associated with the loneliness by using GWAS analysis in 8,490 european ancestry individuals//1,228 african american individuals//867 hispanic american individuals//175 individuals(p-value = 4E-6 ;OR = 0.126). 0.4 Genome-Wide Association Study of Loneliness Demonstrates a Role for Common Variation. NCRV0000000408 23551011 NONHSAT082305.2 rs2839440 ? N/A 21 afro-caribbean cases//1,010 afro-caribbean controls//50 european ancestry cases//1,202 european ancestry controls//62 hispanic cases//658 hispanic controls EFO_0000668 N/A Associate Preeclampsia rs2839440-? of NONHSAT082305.2 is significantly associated with the preeclampsia by using GWAS analysis in 21 afro-caribbean cases//1,010 afro-caribbean controls//50 european ancestry cases//1,202 european ancestry controls//62 hispanic cases//658 hispanic controls(p-value = 1E-6 ;OR = 5.31). 0.4 Genome-wide association study of pre-eclampsia detects novel maternal single nucleotide polymorphisms and copy-number variants in subsets of the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study cohort. NCRV0000003050 26252872 NONHSAT201500.1 rs190797076 G N/A 472 european ancestry cases//47 cases HP_0100543 N/A Associate Cognitive decline rate in late mild cognitive impairment rs190797076-G of NONHSAT201500.1 is significantly associated with the cognitive decline rate in late mild cognitive impairment by using GWAS analysis in 472 european ancestry cases//47 cases(p-value = 4E-6 ;OR = 0.6349). 0.4 Variations in the FRA10AC1 Fragile Site and 15q21 Are Associated with Cerebrospinal Fluid Abeta1-42 Level. NCRV0000001375 26077951 NONHSAT175269.1 rs393152 ? N/A 152 cases//3,111 controls; 67 cases//457 controls Orphanet_278 N/A Associate Corticobasal degeneration rs393152-? of NONHSAT175269.1 is significantly associated with the corticobasal degeneration by using GWAS analysis in 152 cases//3,111 controls; 67 cases//457 controls(p-value = 1E-12 ;OR = 3.7). 0.4 Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy. NCRV0000002163 28199695 NONHSAT223867.1 rs150612032 T N/A 16,576 european ancestry individuals EFO_0008380 N/A Associate Perceived unattractiveness to mosquitoes rs150612032-T of NONHSAT223867.1 is significantly associated with the perceived unattractiveness to mosquitoes by using GWAS analysis in 16,576 european ancestry individuals(p-value = 8E-6 ;OR = 0.354303). 0.4 GWAS of self-reported mosquito bite size, itch intensity and attractiveness to mosquitoes implicates immune-related predisposition loci. NCRV0000003186 29213071 NONHSAT169770.1 rs114194742 T N/A 15,997 hispanic/latino individuals EFO_0004278 N/A Associate Qt interval rs114194742-T of NONHSAT169770.1 is significantly associated with the qt interval by using GWAS analysis in 15,997 hispanic/latino individuals(p-value = 3E-6 ;OR = 14.52). 0.4 GWAS of the electrocardiographic QT interval in Hispanics/Latinos generalizes previously identified loci and identifies population-specific signals. NCRV0000002385 26833246 NONHSAT186577.1 rs6755502 C N/A up to 31,457 european ancestry men//up to 35,030 european ancestry women//up to 8,259 indian asian ancestry men//up to 1,030 indian asian ancestry women//973 korean ancestry men//1,360 korean ancestry women//154 african american men//262 african american women; up to 12,480 european ancestry men//up to 10,055 european ancestry women//315 jamaican ancestry men//774 jamaican ancestry women EFO_0001073 N/A Associate Body fat percentage rs6755502-C of NONHSAT186577.1 is significantly associated with the body fat percentage by using GWAS analysis in up to 31,457 european ancestry men//up to 35,030 european ancestry women//up to 8,259 indian asian ancestry men//up to 1,030 indian asian ancestry women//973 korean ancestry men//1,360 korean ancestry women//154 african american men//262 african american women; up to 12,480 european ancestry men//up to 10,055 european ancestry women//315 jamaican ancestry men//774 jamaican ancestry women(p-value = 1E-10 ;OR = 0.039). 0.4 New loci for body fat percentage reveal link between adiposity and cardiometabolic disease risk. NCRV0000000726 24564958 NONHSAT018228.2 rs1557765 C N/A up to 5,628 european ancestry individuals EFO_0005427 N/A Associate Social communication problems rs1557765-C of NONHSAT018228.2 is significantly associated with the social communication problems by using GWAS analysis in up to 5,628 european ancestry individuals(p-value = 7E-6 ;OR = 0.12). 0.4 Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence. NCRV0000003417 27016271 NONHSAT039800.2 rs2180386 A N/A 149 isolated population cases//210 isolated population controls EFO_1001510 N/A Associate Developmental language disorder (linguistic errors) rs2180386-A of NONHSAT039800.2 is significantly associated with the developmental language disorder (linguistic errors) by using GWAS analysis in 149 isolated population cases//210 isolated population controls(p-value = 7E-6 ;OR = 0.21). 0.4 Genome-Wide Association and Exome Sequencing Study of Language Disorder in an Isolated Population.LID - 10.1542/peds.2015-2469 [doi]LID - e20152469 [pii]AB - BACKGROUND AND OBJECTIVE: Developmental language disorder (DLD) is a highly preva NCRV0000002184 27723758 NONHSAT188003.1 rs80168506 ? N/A 1,635 european ancestry cases//4,852 european ancestry controls EFO_1001929 N/A Associate Selective iga deficiency rs80168506-? of NONHSAT188003.1 is significantly associated with the selective iga deficiency by using GWAS analysis in 1,635 european ancestry cases//4,852 european ancestry controls(p-value = 3E-7 ;OR = 1.5625). 0.4 Common variants at PVT1, ATG13-AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency. NCRV0000000921 25130324 NONHSAT186576.1 rs11885103 A N/A 1,778 european ancestry individuals//1,276 individuals EFO_0005852 N/A Associate Heschl's gyrus morphology rs11885103-A of NONHSAT186576.1 is significantly associated with the heschl's gyrus morphology by using GWAS analysis in 1,778 european ancestry individuals//1,276 individuals(p-value = 2E-6 ;OR = 9.74). 0.4 A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus. NCRV0000000835 20418485 NONHSAT018142.2 rs2060793 A N/A 4,501 european ancestry individuals; 2,221 european ancestry individuals EFO_0003762 N/A Associate Vitamin d levels rs2060793-A of NONHSAT018142.2 is significantly associated with the vitamin d levels by using GWAS analysis in 4,501 european ancestry individuals; 2,221 european ancestry individuals(p-value = 3E-17 ;OR = 0.25). 0.4 Genome-wide association study of circulating vitamin D levels. NCRV0000003156 28240269 NONHSAT207123.1 rs7775228 ? N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008047 N/A Associate Blood protein levels rs7775228-? of NONHSAT207123.1 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 3E-6 ;OR = ?). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. NCRV0000001402 28762467 NONHSAT036473.2 rs143510029 ? N/A 36 european ancestry cases//5,170 european ancestry untreated controls HP_0012235 Sulfasalazine-induced Associate Sulfasalazine-induced agranulocytosis rs143510029-? of NONHSAT036473.2 is significantly associated with the sulfasalazine-induced agranulocytosis by using GWAS analysis in 36 european ancestry cases//5,170 european ancestry untreated controls(p-value = 5E-7 ;OR = 9.11). 0.4 Sulfasalazine-Induced Agranulocytosis Is Associated With the Human Leukocyte Antigen Locus. NCRV0000000727 28448500 NONHSAT200487.1 rs7689420 ? N/A 2,518 african american women//85,730 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//54,792 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men EFO_0007789 joint analysis main effects and physical activity interaction Associate Waist circumference adjusted for bmi (joint analysis main effects and physical activity interaction) rs7689420-? of NONHSAT200487.1 is significantly associated with the waist circumference adjusted for bmi (joint analysis main effects and physical activity interaction) by using GWAS analysis in 2,518 african american women//85,730 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//54,792 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men(p-value = 1E-9 ;OR = ?). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. NCRV0000002703 28360221 NONHSAT032769.2 rs17074418 T N/A 45,889 european ancestry individuals//up to 8,765 asian indian ancestry individuals//up to 7,215 african ancestry individuals; 17,637 european ancestry individuals EFO_0007967 N/A Associate Blood osmolality (transformed sodium) rs17074418-T of NONHSAT032769.2 is significantly associated with the blood osmolality (transformed sodium) by using GWAS analysis in 45,889 european ancestry individuals//up to 8,765 asian indian ancestry individuals//up to 7,215 african ancestry individuals; 17,637 european ancestry individuals(p-value = 5E-6 ;OR = 0.05). 0.4 NFAT5 and SLC4A10 Loci Associate with Plasma Osmolality. NCRV0000000419 28928442 NONHSAT108813.2 rs148844907 A N/A 4,426 european ancestry cases//84,290 european ancestry controls EFO_0008407 N/A Associate Tuberculosis rs148844907-A of NONHSAT108813.2 is significantly associated with the tuberculosis by using GWAS analysis in 4,426 european ancestry cases//84,290 european ancestry controls(p-value = 2E-12 ;OR = 1.92). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. NCRV0000000107 23696099 NONHSAT139199.2 rs1050828 A N/A 1904 african american individuals; 411 african american individuals EFO_0004305 N/A Associate Red blood cell traits rs1050828-A of NONHSAT139199.2 is significantly associated with the red blood cell traits by using GWAS analysis in 1904 african american individuals; 411 african american individuals(p-value = 4E-13 ;OR = 0.2). 0.4 Genetic variants that confer resistance to malaria are associated with red blood cell traits in African-Americans: an electronic medical record-based genome-wide association study. NCRV0000000566 25802187 NONHSAT207117.1 rs652888 G N/A 2,514 chinese ancestry cases//1,130 chinese ancestry controls; 6,600 chinese ancestry cases//8,127 chinese ancestry controls EFO_0004239 N/A Associate Chronic hepatitis b infection rs652888-G of NONHSAT207117.1 is significantly associated with the chronic hepatitis b infection by using GWAS analysis in 2,514 chinese ancestry cases//1,130 chinese ancestry controls; 6,600 chinese ancestry cases//8,127 chinese ancestry controls(p-value = 1E-6 ;OR = 1.14). 0.4 Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B. NCRV0000000359 28448500 NONHSAT105398.2 rs3088050 ? N/A 2,518 african american women//85,730 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//54,792 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men EFO_0007789 joint analysis main effects and physical activity interaction Associate Waist circumference adjusted for bmi (joint analysis main effects and physical activity interaction) rs3088050-? of NONHSAT105398.2 is significantly associated with the waist circumference adjusted for bmi (joint analysis main effects and physical activity interaction) by using GWAS analysis in 2,518 african american women//85,730 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//54,792 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men(p-value = 1E-10 ;OR = ?). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. NCRV0000003579 23669352 NONHSAT201188.1 rs13130484 T N/A up to 13,627 european ancestry individuals; up to 16,253 european ancestry individuals EFO_0001073 N/A Associate Body mass index rs13130484-T of NONHSAT201188.1 is significantly associated with the body mass index by using GWAS analysis in up to 13,627 european ancestry individuals; up to 16,253 european ancestry individuals(p-value = 6E-9 ;OR = 0.05). 0.4 Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course. NCRV0000001981 22139419 NONHSAT010798.2 rs3811444 C N/A 38,891 european ancestry individuals//1,661 val borbera (founder/genetic isolate) individuals//521 carlantino (founder/genetic isolate) individuals//1,198 friuli venezia giulia (founder/genetic isolate) individuals//1,213 south tyrolean (founder/genetic isolate) individuals//890 sorbian (founder/genetic isolate) individuals//4,292 sardinian (founder/genetic isolate) individuals; up to 16,949 european ancestry individuals//854 cliento (founder/genetic isolate) individuals//1,035 talana (founder/genetic isolate) individuals EFO_0004309 N/A Associate Platelet count rs3811444-C of NONHSAT010798.2 is significantly associated with the platelet count by using GWAS analysis in 38,891 european ancestry individuals//1,661 val borbera (founder/genetic isolate) individuals//521 carlantino (founder/genetic isolate) individuals//1,198 friuli venezia giulia (founder/genetic isolate) individuals//1,213 south tyrolean (founder/genetic isolate) individuals//890 sorbian (founder/genetic isolate) individuals//4,292 sardinian (founder/genetic isolate) individuals; up to 16,949 european ancestry individuals//854 cliento (founder/genetic isolate) individuals//1,035 talana (founder/genetic isolate) individuals(p-value = 6E-9 ;OR = 3.346). 0.4 New gene functions in megakaryopoiesis and platelet formation. NCRV0000003434 20872241 NONHSAT173881.1 rs3803662 A N/A 2,702 european ancestry female cases//5,726 european ancestry controls; up to 7,386 cases//7,576 controls EFO_0000305 N/A Associate Breast cancer rs3803662-A of NONHSAT173881.1 is significantly associated with the breast cancer by using GWAS analysis in 2,702 european ancestry female cases//5,726 european ancestry controls; up to 7,386 cases//7,576 controls(p-value = 4E-7 ;OR = 1.22). 0.4 A combined analysis of genome-wide association studies in breast cancer. NCRV0000002580 26634245 NONHSAT172351.1 rs2036527 ? N/A 6,659 european ancestry current and former smoker individuals EFO_0003892 N/A Associate Pre bronchodilator fev1/fvc ratio rs2036527-? of NONHSAT172351.1 is significantly associated with the pre bronchodilator fev1/fvc ratio by using GWAS analysis in 6,659 european ancestry current and former smoker individuals(p-value = 4E-10 ;OR = 0.01665). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000003395 27863252 NONHSAT188791.1 rs4142441 G N/A 169,545 european ancestry individuals EFO_0007997 N/A Associate Granulocyte percentage of myeloid white cells rs4142441-G of NONHSAT188791.1 is significantly associated with the granulocyte percentage of myeloid white cells by using GWAS analysis in 169,545 european ancestry individuals(p-value = 2E-20 ;OR = 0.04678187). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001413 27863252 NONHSAT054945.2 rs2632516 C N/A 170,721 european ancestry individuals EFO_0005091 N/A Associate Monocyte count rs2632516-C of NONHSAT054945.2 is significantly associated with the monocyte count by using GWAS analysis in 170,721 european ancestry individuals(p-value = 1E-25 ;OR = 0.03754437). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000997 27989323 NONHSAT173583.1 rs11551183 G N/A 3,494 finnish ancestry individuals EFO_0005140 N/A Associate Macrophage migration inhibitory factor levels rs11551183-G of NONHSAT173583.1 is significantly associated with the macrophage migration inhibitory factor levels by using GWAS analysis in 3,494 finnish ancestry individuals(p-value = 3E-6 ;OR = 0.3715). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. NCRV0000002388 26192919 NONHSAT157380.1 rs71485777 ? N/A 5,956 european ancestry cases//14,927 european ancestry controls; 14,594 european ancestry cases//26,715 european ancestry controls//151 iranian ancestry cases//342 iranian ancestry controls//184 indian ancestry cases//990 indian ancestry controls//1,690 east asian ancestry cases//3,719 east asian ancestry controls EFO_0000384 N/A Associate Crohn's disease rs71485777-? of NONHSAT157380.1 is significantly associated with the crohn's disease by using GWAS analysis in 5,956 european ancestry cases//14,927 european ancestry controls; 14,594 european ancestry cases//26,715 european ancestry controls//151 iranian ancestry cases//342 iranian ancestry controls//184 indian ancestry cases//990 indian ancestry controls//1,690 east asian ancestry cases//3,719 east asian ancestry controls(p-value = 1E-36 ;OR = ?). 0.4 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. NCRV0000000626 27182965 NONHSAT153671.1 rs11581903 ? N/A 64,143 european ancestry individuals EFO_0007905 N/A Associate Joint mobility (beighton score) rs11581903-? of NONHSAT153671.1 is significantly associated with the joint mobility (beighton score) by using GWAS analysis in 64,143 european ancestry individuals(p-value = 2E-7 ;OR = 0.078). 0.4 Detection and interpretation of shared genetic influences on 42 human traits. NCRV0000000230 22780124 NONHSAT174480.1 rs8064100 A N/A 1,312 european ancestry twins from 894 families EFO_0004699 N/A Associate Gambling rs8064100-A of NONHSAT174480.1 is significantly associated with the gambling by using GWAS analysis in 1,312 european ancestry twins from 894 families(p-value = 3E-6 ;OR = 0.148). 0.4 Genome-wide association study of a quantitative disordered gambling trait. NCRV0000000457 24816252 NONHSAT206337.1 rs2405522 A N/A 7,824 european ancestry individuals EFO_0005664 N/A Associate Blood metabolite levels rs2405522-A of NONHSAT206337.1 is significantly associated with the blood metabolite levels by using GWAS analysis in 7,824 european ancestry individuals(p-value = 4E-29 ;OR = 0.126). 0.4 An atlas of genetic influences on human blood metabolites. NCRV0000003556 26621817 NONHSAT023343.2 rs11607499 T N/A 5,725 european ancestry colorectal carcinoma cases//2,212 european ancestry endometrial carcinoma cases//13,396 european ancestry controls EFO_1001512 N/A Associate Colorectal or endometrial cancer rs11607499-T of NONHSAT023343.2 is significantly associated with the colorectal or endometrial cancer by using GWAS analysis in 5,725 european ancestry colorectal carcinoma cases//2,212 european ancestry endometrial carcinoma cases//13,396 european ancestry controls(p-value = 2E-6 ;OR = 1.27). 0.4 Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1. NCRV0000002944 28017375 NONHSAT164350.1 rs10849023 ? N/A up to 40,258 european ancestry individuals//up to 16,128 african american individuals//up to 15,252 east asian individuals.; 16,389 individuals of european and african american ancestry. EFO_0004305 N/A Associate Red blood cell count rs10849023-? of NONHSAT164350.1 is significantly associated with the red blood cell count by using GWAS analysis in up to 40,258 european ancestry individuals//up to 16,128 african american individuals//up to 15,252 east asian individuals.; 16,389 individuals of european and african american ancestry.(p-value = 3E-11 ;OR = ?). 0.4 Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis. NCRV0000000977 28017375 NONHSAT010798.2 rs3811444 T N/A up to 29,946 european ancestry individuals//up to 6150 african american individuals//15,074 east asian individuals.; 16,389 individuals of european and african american ancestry. EFO_0004526 N/A Associate Mean corpuscular volume rs3811444-T of NONHSAT010798.2 is significantly associated with the mean corpuscular volume by using GWAS analysis in up to 29,946 european ancestry individuals//up to 6150 african american individuals//15,074 east asian individuals.; 16,389 individuals of european and african american ancestry.(p-value = 1E-9 ;OR = 0.0047). 0.4 Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis. NCRV0000003628 23251661 NONHSAT185346.1 rs1448190 A N/A 815 hispanic children from 263 families EFO_0004810 N/A Associate Obesity-related traits rs1448190-A of NONHSAT185346.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 8E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. NCRV0000000289 25631615 NONHSAT195991.1 rs2623325 A N/A 15,087 european ancestry individuals//2,131 erasmus rucphen family individuals; 2,363 chinese ancestry individuals//2,225 malay ancestry individuals//2,025 indian ancestry individuals EFO_0004190 N/A Associate Optic cup area rs2623325-A of NONHSAT195991.1 is significantly associated with the optic cup area by using GWAS analysis in 15,087 european ancestry individuals//2,131 erasmus rucphen family individuals; 2,363 chinese ancestry individuals//2,225 malay ancestry individuals//2,025 indian ancestry individuals(p-value = 2E-8 ;OR = 0.039). 0.4 Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology. NCRV0000003133 25751625 NONHSAT211293.1 rs2046210 A N/A 15,748 european ancestry cases//18,084 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls EFO_0000305 N/A Associate Breast cancer rs2046210-A of NONHSAT211293.1 is significantly associated with the breast cancer by using GWAS analysis in 15,748 european ancestry cases//18,084 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls(p-value = 6E-24 ;OR = 1.08). 0.4 Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer. NCRV0000000315 23108145 NONHSAT066773.2 rs13181 C N/A 914 european ancestry non-small cell lung cancer cases//860 european ancestry controls; 679 european ancestry ancestry non-small cell lung cancer cases//695 european ancestry controls EFO_0001071 N/A Associate Lung cancer (dna repair capacity) rs13181-C of NONHSAT066773.2 is significantly associated with the lung cancer (dna repair capacity) by using GWAS analysis in 914 european ancestry non-small cell lung cancer cases//860 european ancestry controls; 679 european ancestry ancestry non-small cell lung cancer cases//695 european ancestry controls(p-value = 9E-7 ;OR = ?). 0.4 Genome-wide association study reveals novel genetic determinants of DNA repair capacity in lung cancer. NCRV0000002764 27558924 NONHSAT165683.1 rs116855232 C N/A 113 korean ancestry cases//154 korean ancestry controls; 245 east asian ancestry cases//522 east asian ancestry controls EFO_0004233 N/A Associate Response to thiopurine in inflammatory bowel disease (leukopenia) rs116855232-C of NONHSAT165683.1 is significantly associated with the response to thiopurine in inflammatory bowel disease (leukopenia) by using GWAS analysis in 113 korean ancestry cases//154 korean ancestry controls; 245 east asian ancestry cases//522 east asian ancestry controls(p-value = 1E-22 ;OR = 3.9). 0.4 A coding variant in FTO confers susceptibility to thiopurine-induced leukopenia in East Asian patients with IBD. NCRV0000003710 26634245 NONHSAT047577.2 rs16969968 A N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs16969968-A of NONHSAT047577.2 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 6E-15 ;OR = 0.078). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000001551 28355232 NONHSAT113910.2 rs6900057 ? N/A 1,562 european ancestry individuals//538 african american individuals MONDO_0021661 traffic exposure interaction Associate Coronary atherosclerosis (increased number of diseased vessels) (traffic exposure interaction) rs6900057-? of NONHSAT113910.2 is significantly associated with the coronary atherosclerosis (increased number of diseased vessels) (traffic exposure interaction) by using GWAS analysis in 1,562 european ancestry individuals//538 african american individuals(p-value = 7E-6 ;OR = ?). 0.4 A genome-wide trans-ethnic interaction study links the PIGR-FCAMR locus to coronary atherosclerosis via interactions between genetic variants and residential exposure to traffic. NCRV0000002656 20694011 NONHSAT218855.1 rs10492294 ? N/A 430 european ancestry cases//1,090 european ancestry controls; 342 european ancestry cases//886 european ancestry controls EFO_0004747 N/A Associate Immunoglobulin a rs10492294-? of NONHSAT218855.1 is significantly associated with the immunoglobulin a by using GWAS analysis in 430 european ancestry cases//1,090 european ancestry controls; 342 european ancestry cases//886 european ancestry controls(p-value = 4E-6 ;OR = 1.49). 0.4 Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency. NCRV0000001165 27863252 NONHSAT130819.2 rs11557154 T N/A 171,542 european ancestry individuals EFO_0007990 N/A Associate Neutrophil percentage of white cells rs11557154-T of NONHSAT130819.2 is significantly associated with the neutrophil percentage of white cells by using GWAS analysis in 171,542 european ancestry individuals(p-value = 2E-9 ;OR = 0.03189868). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002070 27863252 NONHSAT174746.1 rs6416877 G N/A 169,219 european ancestry individuals EFO_0007988 N/A Associate Myeloid white cell count rs6416877-G of NONHSAT174746.1 is significantly associated with the myeloid white cell count by using GWAS analysis in 169,219 european ancestry individuals(p-value = 3E-11 ;OR = 0.02704665). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000721 27863252 NONHSAT199166.1 rs7696658 T N/A 166,066 european ancestry individuals EFO_0004309 N/A Associate Platelet count rs7696658-T of NONHSAT199166.1 is significantly associated with the platelet count by using GWAS analysis in 166,066 european ancestry individuals(p-value = 4E-9 ;OR = 0.02147079). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003937 25201988 NONHSAT122572.2 rs4073894 A N/A 106,736 european ancestry individuals EFO_0004784 N/A Associate Educational attainment rs4073894-A of NONHSAT122572.2 is significantly associated with the educational attainment by using GWAS analysis in 106,736 european ancestry individuals(p-value = 9E-6 ;OR = 0.024). 0.4 Common genetic variants associated with cognitive performance identified using the proxy-phenotype method. NCRV0000002253 29186694 NONHSAT188876.1 rs348276 ? N/A 107,207 european ancestry individuals EFO_0008354 N/A Associate Cognitive ability rs348276-? of NONHSAT188876.1 is significantly associated with the cognitive ability by using GWAS analysis in 107,207 european ancestry individuals(p-value = 1E-8 ;OR = 5.699). 0.4 Large-Scale Cognitive GWAS Meta-Analysis Reveals Tissue-Specific Neural Expression and Potential Nootropic Drug Targets. NCRV0000002431 29059683 NONHSAT208550.1 rs6940159 C N/A 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls EFO_0000305 N/A Associate Breast cancer rs6940159-C of NONHSAT208550.1 is significantly associated with the breast cancer by using GWAS analysis in 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls(p-value = 3E-7 ;OR = 0.033). 0.4 Association analysis identifies 65 new breast cancer risk loci. NCRV0000001619 28448500 NONHSAT186577.1 rs4854344 ? N/A 561 african american women//352 filipino ancestry women//725 indian ancestry women//19,366 european ancestry women//251 african american men//4,654 indian ancestry men//11,727 european ancestry men//959 european ancestry individuals; 1,437 african american women//5,184 european ancestry women//64 african american men//5,416 european ancestry men EFO_0001073 joint analysis main effects and physical activity interaction Associate Body mass index (joint analysis main effects and physical activity interaction) rs4854344-? of NONHSAT186577.1 is significantly associated with the body mass index (joint analysis main effects and physical activity interaction) by using GWAS analysis in 561 african american women//352 filipino ancestry women//725 indian ancestry women//19,366 european ancestry women//251 african american men//4,654 indian ancestry men//11,727 european ancestry men//959 european ancestry individuals; 1,437 african american women//5,184 european ancestry women//64 african american men//5,416 european ancestry men(p-value = 9E-23 ;OR = ?). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. NCRV0000002715 23535730 NONHSAT185940.1 rs2072590 ? N/A 3,769 european ancestry cases//4,396 european ancestry controls; 211 east asian ancestry cases//972 east asian ancestry controls//39,674 european ancestry individuals//106 malaysian ancestry cases//106 malaysian ancestry controls EFO_0001075 N/A Associate Ovarian cancer rs2072590-? of NONHSAT185940.1 is significantly associated with the ovarian cancer by using GWAS analysis in 3,769 european ancestry cases//4,396 european ancestry controls; 211 east asian ancestry cases//972 east asian ancestry controls//39,674 european ancestry individuals//106 malaysian ancestry cases//106 malaysian ancestry controls(p-value = 3E-10 ;OR = 1.13). 0.4 GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer. NCRV0000003429 23770605 NONHSAT217438.1 rs2511714 G N/A 2,179 european ancestry cases//6,221 european ancestry controls; 1,709 european ancestry cases//6,318 european ancestry controls EFO_0000095 N/A Associate Chronic lymphocytic leukemia rs2511714-G of NONHSAT217438.1 is significantly associated with the chronic lymphocytic leukemia by using GWAS analysis in 2,179 european ancestry cases//6,221 european ancestry controls; 1,709 european ancestry cases//6,318 european ancestry controls(p-value = 5E-8 ;OR = 1.19). 0.4 Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia. NCRV0000000583 25673412 NONHSAT168811.1 rs2160077 A N/A up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women EFO_0007789 N/A Associate Waist circumference adjusted for body mass index rs2160077-A of NONHSAT168811.1 is significantly associated with the waist circumference adjusted for body mass index by using GWAS analysis in up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women(p-value = 3E-8 ;OR = 0.0264). 0.4 New genetic loci link adipose and insulin biology to body fat distribution. NCRV0000003212 20935629 NONHSAT150556.1 rs4846567 G N/A up to 77,167 european ancestry individuals; up to 113,636 european ancestry individuals EFO_0004343 N/A Associate Waist-hip ratio rs4846567-G of NONHSAT150556.1 is significantly associated with the waist-hip ratio by using GWAS analysis in up to 77,167 european ancestry individuals; up to 113,636 european ancestry individuals(p-value = 7E-21 ;OR = 0.03). 0.4 Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. NCRV0000000815 27089181 NONHSAT210582.1 rs9382403 A N/A 298,420 korculan (founder/genetic isolate)//split (founder/genetic isolate)//vis (founder/genetic isolate)//erasmus rucphen (founder/genetic isolate) and other european ancestry individuals EFO_0007869 N/A Associate Subjective well-being rs9382403-A of NONHSAT210582.1 is significantly associated with the subjective well-being by using GWAS analysis in 298,420 korculan (founder/genetic isolate)//split (founder/genetic isolate)//vis (founder/genetic isolate)//erasmus rucphen (founder/genetic isolate) and other european ancestry individuals(p-value = 1E-6 ;OR = 0.0134). 0.4 Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses. NCRV0000002307 28604730 NONHSAT176539.1 rs17181550 T N/A 11,273 european ancestry cases// 55,483 european ancestry controls EFO_0000571 N/A Associate Lung adenocarcinoma rs17181550-T of NONHSAT176539.1 is significantly associated with the lung adenocarcinoma by using GWAS analysis in 11,273 european ancestry cases// 55,483 european ancestry controls(p-value = 3E-6 ;OR = 1.0797197). 0.4 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. NCRV0000003831 28416818 NONHSAT071152.2 rs2723064 T N/A 15,979 european ancestry cases//102,776 european ancestry controls. EFO_0000275 N/A Associate Atrial fibrillation rs2723064-T of NONHSAT071152.2 is significantly associated with the atrial fibrillation by using GWAS analysis in 15,979 european ancestry cases//102,776 european ancestry controls.(p-value = 2E-10 ;OR = 1.09). 0.4 Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation. NCRV0000001377 29093273 NONHSAT185899.1 rs150495482 T N/A 3,344 swedish ancestry individuals; 4,905 finnish ancestry individuals EFO_0001360 N/A Associate Glp-1 levels in response to oral glucose tolerance test (fasting) rs150495482-T of NONHSAT185899.1 is significantly associated with the glp-1 levels in response to oral glucose tolerance test (fasting) by using GWAS analysis in 3,344 swedish ancestry individuals; 4,905 finnish ancestry individuals(p-value = 2E-6 ;OR = 0.559). 0.4 Genetic determinants of circulating GIP and GLP-1 concentrations.LID - 10.1172/jci.insight.93306 [doi]LID - 93306 [pii]AB - The secretion of insulin and glucagon from the pancreas and the incretin hormones glucagon-like peptide-1 (GLP-1) and gl NCRV0000002556 24403052 NONHSAT162210.1 rs11170164 T N/A 4,208 european ancestry cases//109,408 european ancestry controls; up to 1,480 european ancestry cases//up to 4,610 european ancestry controls EFO_0004193 N/A Associate Basal cell carcinoma rs11170164-T of NONHSAT162210.1 is significantly associated with the basal cell carcinoma by using GWAS analysis in 4,208 european ancestry cases//109,408 european ancestry controls; up to 1,480 european ancestry cases//up to 4,610 european ancestry controls(p-value = 3E-6 ;OR = 1.25). 0.4 Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma. NCRV0000003006 23049088 NONHSAT199385.1 rs11723530 ? N/A 187 european ancestry cases//1064 european ancestry controls; EFO_0004207 N/A Associate Myopia (pathological) rs11723530-? of NONHSAT199385.1 is significantly associated with the myopia (pathological) by using GWAS analysis in 187 european ancestry cases//1064 european ancestry controls; (p-value = 4E-6 ;OR = ?). 0.4 A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population. NCRV0000000222 28240269 NONHSAT159724.1 rs12099358 A N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008034 N/A Associate Blood protein levels rs12099358-A of NONHSAT159724.1 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 2E-26 ;OR = 0.6234). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. NCRV0000002556 27539887 NONHSAT162210.1 rs11170164 T N/A 12.945 european ancestry cases//274,252 european ancestry controls; 4,242 european ancestry cases//12,802 european ancestry controls EFO_0004193 N/A Associate Basal cell carcinoma rs11170164-T of NONHSAT162210.1 is significantly associated with the basal cell carcinoma by using GWAS analysis in 12.945 european ancestry cases//274,252 european ancestry controls; 4,242 european ancestry cases//12,802 european ancestry controls(p-value = 1E-15 ;OR = 1.19). 0.4 Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma. NCRV0000003642 26390057 NONHSAT220168.1 rs490234 T N/A 31,516 east asian ancestry individuals// 35,352 european ancestry individuals//33,126 south asian ancestry individuals; 87,205 individuals//48,268 east asian ancestry individuals//68,456 european ancestry individuals and 16,328 south asian ancestry individuals EFO_0006340 N/A Associate Mean arterial pressure rs490234-T of NONHSAT220168.1 is significantly associated with the mean arterial pressure by using GWAS analysis in 31,516 east asian ancestry individuals// 35,352 european ancestry individuals//33,126 south asian ancestry individuals; 87,205 individuals//48,268 east asian ancestry individuals//68,456 european ancestry individuals and 16,328 south asian ancestry individuals(p-value = 9E-7 ;OR = 0.17062975). 0.4 Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation. NCRV0000003042 25939597 NONHSAT216396.1 rs6983267 G N/A 4,600 european ancestry cases//2,941 european ancestry controls; 7,779 european ancestry cases//7,623 european ancestry controls EFO_0001663 N/A Associate Prostate cancer rs6983267-G of NONHSAT216396.1 is significantly associated with the prostate cancer by using GWAS analysis in 4,600 european ancestry cases//2,941 european ancestry controls; 7,779 european ancestry cases//7,623 european ancestry controls(p-value = 4E-10 ;OR = 1.23). 0.4 Two susceptibility loci identified for prostate cancer aggressiveness. NCRV0000002995 25751625 NONHSAT159884.1 rs11820646 C N/A 15,748 european ancestry cases//18,084 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls EFO_0000305 N/A Associate Breast cancer rs11820646-C of NONHSAT159884.1 is significantly associated with the breast cancer by using GWAS analysis in 15,748 european ancestry cases//18,084 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls(p-value = 1E-10 ;OR = 1.0526316). 0.4 Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer. NCRV0000001436 27863252 NONHSAT144816.2 rs8068017 C N/A 170,143 european ancestry individuals EFO_0009390 N/A Associate Sum basophil neutrophil counts rs8068017-C of NONHSAT144816.2 is significantly associated with the sum basophil neutrophil counts by using GWAS analysis in 170,143 european ancestry individuals(p-value = 2E-9 ;OR = 0.02367607). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002430 26634245 NONHSAT101320.2 rs116448453 T N/A 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio in copd rs116448453-T of NONHSAT101320.2 is significantly associated with the post bronchodilator fev1/fvc ratio in copd by using GWAS analysis in 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases(p-value = 1E-6 ;OR = 0.075). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000001718 22589738 NONHSAT181194.1 rs962528 T N/A 5,560 european ancestry female individuals//4,997 european ancestry male individuals EFO_0004765 N/A Associate Visceral fat rs962528-T of NONHSAT181194.1 is significantly associated with the visceral fat by using GWAS analysis in 5,560 european ancestry female individuals//4,997 european ancestry male individuals(p-value = 8E-6 ;OR = ?). 0.4 Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. NCRV0000001403 24324551 NONHSAT088639.2 rs409974 ? N/A 580 brazilian ancestry individuals EFO_0003777 Tripanosoma cruzi seropositivity Associate Qrs duration in tripanosoma cruzi seropositivity rs409974-? of NONHSAT088639.2 is significantly associated with the qrs duration in tripanosoma cruzi seropositivity by using GWAS analysis in 580 brazilian ancestry individuals(p-value = 9E-6 ;OR = ?). 0.4 Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects. NCRV0000001540 28468790 NONHSAT218105.1 rs1379134 ? N/A 247 european ancestry trios//70 non-european ancestry trios//192 european and other ancestry trios EFO_0005938 N/A Associate Left ventricular obstructive tract defect (inherited effect) rs1379134-? of NONHSAT218105.1 is significantly associated with the left ventricular obstructive tract defect (inherited effect) by using GWAS analysis in 247 european ancestry trios//70 non-european ancestry trios//192 european and other ancestry trios(p-value = 4E-6 ;OR = 2.6964426). 0.4 Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects. NCRV0000002268 19838193 NONHSAT154261.1 rs2205960 A N/A 1,047 han chinese ancestry cases//1,205 han chinese ancestry controls; 3,152 han chinese ancestry cases//7,050 han chinese ancestry controls EFO_0002690 N/A Associate Systemic lupus erythematosus rs2205960-A of NONHSAT154261.1 is significantly associated with the systemic lupus erythematosus by using GWAS analysis in 1,047 han chinese ancestry cases//1,205 han chinese ancestry controls; 3,152 han chinese ancestry cases//7,050 han chinese ancestry controls(p-value = 3E-32 ;OR = 1.46). 0.4 Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus. NCRV0000003936 21738478 NONHSAT197521.1 rs4328821 A N/A 8,794 japanese ancestry individuals; 5,998 japanese ancestry individuals EFO_0004842 N/A Associate White blood cell types rs4328821-A of NONHSAT197521.1 is significantly associated with the white blood cell types by using GWAS analysis in 8,794 japanese ancestry individuals; 5,998 japanese ancestry individuals(p-value = 3E-17 ;OR = 0.103). 0.4 Identification of nine novel loci associated with white blood cell subtypes in a Japanese population. NCRV0000003243 27846195 NONHSAT202605.1 rs192381152 A N/A 1,390 european ancestry individuals EFO_0000692 paliperidone Associate Response to paliperidone in schizophrenia (panss score) rs192381152-A of NONHSAT202605.1 is significantly associated with the response to paliperidone in schizophrenia (panss score) by using GWAS analysis in 1,390 european ancestry individuals(p-value = 3E-6 ;OR = 4.0968). 0.4 Genome-wide association study of paliperidone efficacy. NCRV0000001208 27863252 NONHSAT056521.2 rs3208787 G N/A 172,952 european ancestry individuals EFO_0004305 N/A Associate Red blood cell count rs3208787-G of NONHSAT056521.2 is significantly associated with the red blood cell count by using GWAS analysis in 172,952 european ancestry individuals(p-value = 1E-9 ;OR = 0.02899962). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002457 28240269 NONHSAT200055.1 rs425535 ? N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008058 N/A Associate Blood protein levels rs425535-? of NONHSAT200055.1 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 1E-9 ;OR = ?). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. NCRV0000001017 24149102 NONHSAT217627.1 rs2019960 G N/A 1,465 european ancestry cases//6,417 european ancestry controls; 1,071 european ancestry cases//953 cases//1,853 controls EFO_0000183 N/A Associate Hodgkin's lymphoma rs2019960-G of NONHSAT217627.1 is significantly associated with the hodgkin's lymphoma by using GWAS analysis in 1,465 european ancestry cases//6,417 european ancestry controls; 1,071 european ancestry cases//953 cases//1,853 controls(p-value = 6E-10 ;OR = 1.37). 0.4 Variation at 3p24.1 and 6q23.3 influences the risk of Hodgkin's lymphoma. NCRV0000000099 21971053 NONHSAT130433.2 rs944797 C N/A 806 japanese ancestry cases//1,337 japanese ancestry controls; 3,593 japanese ancestry cases//6,335 japanese ancestry controls EFO_0001645 N/A Associate Coronary heart disease rs944797-C of NONHSAT130433.2 is significantly associated with the coronary heart disease by using GWAS analysis in 806 japanese ancestry cases//1,337 japanese ancestry controls; 3,593 japanese ancestry cases//6,335 japanese ancestry controls(p-value = 6E-16 ;OR = 1.25). 0.4 Genome-wide association study of coronary artery disease in the Japanese. NCRV0000003735 26634245 NONHSAT219613.1 rs184991195 T N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs184991195-T of NONHSAT219613.1 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 6E-7 ;OR = 0.08). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000000536 26053186 NONHSAT205196.1 rs75778424 ? N/A 362 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//438 european ancestry current smoker individuals//449 latino current smoker individuals//704 japanese ancestry current smoker individuals EFO_0001071 in smokers Associate 3-hydroxypropylmercapturic acid levels in smokers rs75778424-? of NONHSAT205196.1 is significantly associated with the 3-hydroxypropylmercapturic acid levels in smokers by using GWAS analysis in 362 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//438 european ancestry current smoker individuals//449 latino current smoker individuals//704 japanese ancestry current smoker individuals(p-value = 2E-6 ;OR = 0.3107). 0.4 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. NCRV0000002183 28448500 NONHSAT121628.2 rs2430307 T N/A 561 african american women//352 filipino ancestry women//725 indian ancestry women//19,366 european ancestry women//251 african american men//4,654 indian ancestry men//11,727 european ancestry men//959 european ancestry individuals; 1,437 african american women//5,184 european ancestry women//64 african american men//5,416 european ancestry men EFO_0001073 joint analysis main effects and physical activity interaction Associate Body mass index rs2430307-T of NONHSAT121628.2 is significantly associated with the body mass index by using GWAS analysis in 561 african american women//352 filipino ancestry women//725 indian ancestry women//19,366 european ancestry women//251 african american men//4,654 indian ancestry men//11,727 european ancestry men//959 european ancestry individuals; 1,437 african american women//5,184 european ancestry women//64 african american men//5,416 european ancestry men(p-value = 5E-6 ;OR = 0.0436). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. NCRV0000001740 23874384 NONHSAT133650.2 rs12551906 G N/A 2,930 european ancestry children EFO_0005322 N/A Associate Callous-unemotional behaviour rs12551906-G of NONHSAT133650.2 is significantly associated with the callous-unemotional behaviour by using GWAS analysis in 2,930 european ancestry children(p-value = 3E-6 ;OR = ?). 0.4 Genetics of callous-unemotional behavior in children. NCRV0000000422 22949513 NONHSAT054368.2 rs72823592 G N/A 702 european ancestry genetic absence epilepsies cases//586 european ancestry juvenile myoclonic epilepsy cases//239 european ancestry other genetic generalized epilepsies cases//2,461 european ancestry controls; 347 european ancestry genetic absence epilepsies trios//166 european ancestry juvenile myoclonic epilepsy trios//91 european ancestry other genetic generalized epilepsies trios//385 european ancestry genetic absence epilepsies cases//382 european ancestry juvenile myoclonic epilepsy cases//122 european ancestry other genetic generalized epilepsies cases//up to 889 european ancestry controls EFO_0000474 N/A Associate Epilepsy (generalized) rs72823592-G of NONHSAT054368.2 is significantly associated with the epilepsy (generalized) by using GWAS analysis in 702 european ancestry genetic absence epilepsies cases//586 european ancestry juvenile myoclonic epilepsy cases//239 european ancestry other genetic generalized epilepsies cases//2,461 european ancestry controls; 347 european ancestry genetic absence epilepsies trios//166 european ancestry juvenile myoclonic epilepsy trios//91 european ancestry other genetic generalized epilepsies trios//385 european ancestry genetic absence epilepsies cases//382 european ancestry juvenile myoclonic epilepsy cases//122 european ancestry other genetic generalized epilepsies cases//up to 889 european ancestry controls(p-value = 9E-9 ;OR = 1.3). 0.4 Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32. NCRV0000001769 28739976 NONHSAT169223.1 rs8904 A N/A 150,134 european ancestry individuals; 87,359 european ancestry individuals//140,886 european and unknown ancestry individuals EFO_0000319 N/A Associate Systolic blood pressure rs8904-A of NONHSAT169223.1 is significantly associated with the systolic blood pressure by using GWAS analysis in 150,134 european ancestry individuals; 87,359 european ancestry individuals//140,886 european and unknown ancestry individuals(p-value = 1E-12 ;OR = 0.311). 0.4 Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.LID - HYPERTENSIONAHA.117.09438 [pii]LID - 10.1161/HYPERTENSIONAHA.117.09438 [doi]AB - Elevated blood pressure NCRV0000003248 27798624 NONHSAT112236.2 rs236349 G N/A 127,919 european ancestry individuals//2,478 asian ancestry individuals//1,734 black individuals//684 mixed ancestry individuals//1,436 individuals; 130,795 european ancestry individuals EFO_0003777 N/A Associate Resting heart rate rs236349-G of NONHSAT112236.2 is significantly associated with the resting heart rate by using GWAS analysis in 127,919 european ancestry individuals//2,478 asian ancestry individuals//1,734 black individuals//684 mixed ancestry individuals//1,436 individuals; 130,795 european ancestry individuals(p-value = 1E-15 ;OR = 0.2812). 0.4 Identification of genomic loci associated with resting heart rate and shared genetic predictors with all-cause mortality. NCRV0000000506 19451621 NONHSAT181637.1 rs3099950 ? N/A 1,821 cases//2,258 controls; 538 cases//556 controls EFO_0000253 N/A Associate Amyotrophic lateral sclerosis rs3099950-? of NONHSAT181637.1 is significantly associated with the amyotrophic lateral sclerosis by using GWAS analysis in 1,821 cases//2,258 controls; 538 cases//556 controls(p-value = 8E-6 ;OR = ?). 0.4 Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis. NCRV0000002494 25865494 NONHSAT097324.2 rs13136331 T N/A 3,545 african americans individuals//12,965 european ancestry women//8,625 european ancestry men EFO_0007118 N/A Associate Sitting height ratio rs13136331-T of NONHSAT097324.2 is significantly associated with the sitting height ratio by using GWAS analysis in 3,545 african americans individuals//12,965 european ancestry women//8,625 european ancestry men(p-value = 5E-6 ;OR = 0.048). 0.4 Genome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal Development. NCRV0000001147 26198764 NONHSAT067951.2 rs270776 G N/A 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls EFO_0000692 N/A Associate Schizophrenia rs270776-G of NONHSAT067951.2 is significantly associated with the schizophrenia by using GWAS analysis in 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls(p-value = 9E-7 ;OR = 1.0638298). 0.4 Genome-wide association study of schizophrenia in Ashkenazi Jews. NCRV0000003247 27863252 NONHSAT179957.1 rs45541434 T N/A 164,339 european ancestry individuals EFO_0007985 N/A Associate Plateletcrit rs45541434-T of NONHSAT179957.1 is significantly associated with the plateletcrit by using GWAS analysis in 164,339 european ancestry individuals(p-value = 5E-10 ;OR = 0.1052062). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003982 25775280 NONHSAT148083.2 rs8049367 C N/A 858 chinese ancestry cases//1,248 chinese ancestry controls; 1,663 chinese ancestry cases// 1,874 chinese ancestry controls EFO_0003959 N/A Associate Nonsyndromic cleft lip with or without cleft palate rs8049367-C of NONHSAT148083.2 is significantly associated with the nonsyndromic cleft lip with or without cleft palate by using GWAS analysis in 858 chinese ancestry cases//1,248 chinese ancestry controls; 1,663 chinese ancestry cases// 1,874 chinese ancestry controls(p-value = 9E-12 ;OR = 1.35). 0.4 Genome-wide association study identifies a new susceptibility locus for cleft lip with or without a cleft palate. NCRV0000000715 28604730 NONHSAT184768.1 rs1039766 T N/A 11,273 european ancestry cases// 55,483 european ancestry controls EFO_0000571 N/A Associate Lung adenocarcinoma rs1039766-T of NONHSAT184768.1 is significantly associated with the lung adenocarcinoma by using GWAS analysis in 11,273 european ancestry cases// 55,483 european ancestry controls(p-value = 3E-6 ;OR = 1.1111958). 0.4 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. NCRV0000003951 23378610 NONHSAT183488.1 rs715 T N/A 1,004 european ancestry individuals; 339 european ancestry individuals EFO_0004471 N/A Associate Metabolite levels rs715-T of NONHSAT183488.1 is significantly associated with the metabolite levels by using GWAS analysis in 1,004 european ancestry individuals; 339 european ancestry individuals(p-value = 3E-50 ;OR = 0.61). 0.4 Genetic variants associated with glycine metabolism and their role in insulin sensitivity and type 2 diabetes. NCRV0000001004 21908519 NONHSAT164116.1 rs735396 G N/A up to 1,426 european ancestry male individuals//up to 1,941 european ancestry female individuals EFO_0004999 N/A Associate N-glycan levels rs735396-G of NONHSAT164116.1 is significantly associated with the n-glycan levels by using GWAS analysis in up to 1,426 european ancestry male individuals//up to 1,941 european ancestry female individuals(p-value = 4E-9 ;OR = 0.15703972). 0.4 Polymorphisms in B3GAT1, SLC9A9 and MGAT5 are associated with variation within the human plasma N-glycome of 3533 European adults. NCRV0000003238 26034056 NONHSAT028094.2 rs10875943 C N/A 6,406 european ancestry cases//601 african american cases//288 east asian ancestry cases//488 latino cases30,866 european ancestry controls//1,650 african american controls//2,938 east asian ancestry controls//3,141 latino controls; 4,599 european ancestry cases//2,265 african american cases//2,940 european ancestry controls//2,414 african american controls EFO_0001663 N/A Associate Prostate cancer rs10875943-C of NONHSAT028094.2 is significantly associated with the prostate cancer by using GWAS analysis in 6,406 european ancestry cases//601 african american cases//288 east asian ancestry cases//488 latino cases30,866 european ancestry controls//1,650 african american controls//2,938 east asian ancestry controls//3,141 latino controls; 4,599 european ancestry cases//2,265 african american cases//2,940 european ancestry controls//2,414 african american controls(p-value = 2E-6 ;OR = 1.12). 0.4 A large multiethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences. NCRV0000000196 23251661 NONHSAT205202.1 rs2173226 G N/A 815 hispanic children from 263 families EFO_0005093 N/A Associate Obesity-related traits rs2173226-G of NONHSAT205202.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 8E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. NCRV0000003123 28928442 NONHSAT169396.1 rs2251244 ? N/A 52,218 european ancestry cases//10,235 european ancestry controls EFO_0008412 N/A Associate Yeast infection rs2251244-? of NONHSAT169396.1 is significantly associated with the yeast infection by using GWAS analysis in 52,218 european ancestry cases//10,235 european ancestry controls(p-value = 2E-9 ;OR = 0.0485). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. NCRV0000001803 23251661 NONHSAT206694.1 rs17138114 G N/A 815 hispanic children from 263 families EFO_0004344 N/A Associate Obesity-related traits rs17138114-G of NONHSAT206694.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 1E-6 ;OR = 0.04). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. NCRV0000000587 18347602 NONHSAT167405.1 rs9512730 ? N/A 417 european ancestry cases//411 european ancestry controls//217 african american cases//219 african american controls//104 american indian//asian//pacific islander or hispanic/latino ancestry cases//103 american indian//asian//pacific islander or hispanic/latino ancestry controls EFO_0000692 N/A Associate Schizophrenia rs9512730-? of NONHSAT167405.1 is significantly associated with the schizophrenia by using GWAS analysis in 417 european ancestry cases//411 european ancestry controls//217 african american cases//219 african american controls//104 american indian//asian//pacific islander or hispanic/latino ancestry cases//103 american indian//asian//pacific islander or hispanic/latino ancestry controls(p-value = 5E-6 ;OR = 1.52). 0.4 Genomewide association for schizophrenia in the CATIE study: results of stage 1. NCRV0000000729 19023125 NONHSAT188325.1 rs1574192 ? N/A 46 european ancestry cases//60 european ancestry controls//18 cases//14 controls EFO_0004346 in schizophrenia (dorsolateral prefrontal cortex interaction) Associate Brain imaging in schizophrenia (dorsolateral prefrontal cortex interaction) rs1574192-? of NONHSAT188325.1 is significantly associated with the brain imaging in schizophrenia (dorsolateral prefrontal cortex interaction) by using GWAS analysis in 46 european ancestry cases//60 european ancestry controls//18 cases//14 controls(p-value = 4E-6 ;OR = ?). 0.4 A genome-wide association study of schizophrenia using brain activation as a quantitative phenotype. NCRV0000000074 23128233 NONHSAT206871.1 rs17119 A N/A 12,924 european ancestry cases//21,442 european ancestry controls; 25,683 european ancestry cases//17,015 european ancestry controls EFO_0003767 N/A Associate Inflammatory bowel disease rs17119-A of NONHSAT206871.1 is significantly associated with the inflammatory bowel disease by using GWAS analysis in 12,924 european ancestry cases//21,442 european ancestry controls; 25,683 european ancestry cases//17,015 european ancestry controls(p-value = 3E-11 ;OR = 1.071). 0.4 Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. NCRV0000003190 28199695 NONHSAT162383.1 rs10878725 T N/A 41,355 european ancestry men and 43,369 european ancestry women EFO_0008377 N/A Associate Itch intensity from mosquito bite adjusted by bite size rs10878725-T of NONHSAT162383.1 is significantly associated with the itch intensity from mosquito bite adjusted by bite size by using GWAS analysis in 41,355 european ancestry men and 43,369 european ancestry women(p-value = 4E-11 ;OR = 0.0210225). 0.4 GWAS of self-reported mosquito bite size, itch intensity and attractiveness to mosquitoes implicates immune-related predisposition loci. NCRV0000002542 26545403 NONHSAT205157.1 rs2853668 ? N/A 2,152 chinese ancestry cases//3,740 chinese ancestry controls; 4,716 chinese ancestry cases//5,379 chinese ancestry controls EFO_0004252 N/A Associate Nasopharyngeal carcinoma rs2853668-? of NONHSAT205157.1 is significantly associated with the nasopharyngeal carcinoma by using GWAS analysis in 2,152 chinese ancestry cases//3,740 chinese ancestry controls; 4,716 chinese ancestry cases//5,379 chinese ancestry controls(p-value = 4E-6 ;OR = 1.12). 0.4 A GWAS Meta-analysis and Replication Study Identifies a Novel Locus within CLPTM1L/TERT Associated with Nasopharyngeal Carcinoma in Individuals of Chinese Ancestry. NCRV0000000232 24390342 NONHSAT154173.1 rs2317230 T N/A up to 14,361 european ancestry cases//up to 42,923 european ancestry controls//up to 4,873 east asian ancestry cases//up to 17,642 east asian ancestry controls; up to 3,775 european ancestry cases//up to 5,801 european ancestry controls//up to 6,871 east asian ancestry cases//up to 6,392 east asian ancestry controls EFO_0000685 N/A Associate Rheumatoid arthritis rs2317230-T of NONHSAT154173.1 is significantly associated with the rheumatoid arthritis by using GWAS analysis in up to 14,361 european ancestry cases//up to 42,923 european ancestry controls//up to 4,873 east asian ancestry cases//up to 17,642 east asian ancestry controls; up to 3,775 european ancestry cases//up to 5,801 european ancestry controls//up to 6,871 east asian ancestry cases//up to 6,392 east asian ancestry controls(p-value = 2E-7 ;OR = 1.07). 0.4 Genetics of rheumatoid arthritis contributes to biology and drug discovery. NCRV0000000149 25352737 NONHSAT133739.2 rs1929494 T N/A 5,503 european//black//and other ancestry cases age 50 and older//1,894 european//black//and other ancestry controls age 50 and older HP_0011141 N/A Associate Age-related cataracts rs1929494-T of NONHSAT133739.2 is significantly associated with the age-related cataracts by using GWAS analysis in 5,503 european//black//and other ancestry cases age 50 and older//1,894 european//black//and other ancestry controls age 50 and older(p-value = 2E-6 ;OR = 1.217). 0.4 Electronic medical records and genomics (eMERGE) network exploration in cataract: several new potential susceptibility loci. NCRV0000000367 20935630 NONHSAT168677.1 rs10150332 C N/A up to 123,865 european ancestry individuals; up to 125,931 european ancestry individuals EFO_0001073 N/A Associate Body mass index rs10150332-C of NONHSAT168677.1 is significantly associated with the body mass index by using GWAS analysis in up to 123,865 european ancestry individuals; up to 125,931 european ancestry individuals(p-value = 3E-11 ;OR = 0.13). 0.4 Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. NCRV0000003198 27126917 NONHSAT025096.2 rs141697342 G N/A 941 european ancestry individuals EFO_0008568 N/A Associate Night sleep phenotypes rs141697342-G of NONHSAT025096.2 is significantly associated with the night sleep phenotypes by using GWAS analysis in 941 european ancestry individuals(p-value = 1E-6 ;OR = 0.6406). 0.4 Genome-wide association analysis of actigraphic sleep phenotypes in the LIFE Adult Study. NCRV0000001414 29228715 NONHSAT219150.1 rs954980 ? N/A 978 austrian ancestry cases//855 austrian ancestry controls EFO_0005842 N/A Associate Colorectal cancer rs954980-? of NONHSAT219150.1 is significantly associated with the colorectal cancer by using GWAS analysis in 978 austrian ancestry cases//855 austrian ancestry controls(p-value = 5E-6 ;OR = 1.3933399). 0.4 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas. NCRV0000001348 26805783 NONHSAT207053.1 rs75140056 C N/A 12,491 hispanic/latin american individuals; 7,170 hispanic/latin american individuals EFO_0004309 N/A Associate Platelet count rs75140056-C of NONHSAT207053.1 is significantly associated with the platelet count by using GWAS analysis in 12,491 hispanic/latin american individuals; 7,170 hispanic/latin american individuals(p-value = 1E-9 ;OR = 0.151). 0.4 Genome-wide Association Study of Platelet Count Identifies Ancestry-Specific Loci in Hispanic/Latino Americans. NCRV0000001869 29228715 NONHSAT205299.1 rs13170463 ? N/A 978 austrian ancestry colorectal cancer cases//636 austrian ancestry advanced colorectal adenoma cases//4,294 european ancestry controls EFO_0005842 N/A Associate Colorectal cancer rs13170463-? of NONHSAT205299.1 is significantly associated with the colorectal cancer by using GWAS analysis in 978 austrian ancestry colorectal cancer cases//636 austrian ancestry advanced colorectal adenoma cases//4,294 european ancestry controls(p-value = 5E-6 ;OR = 1.667). 0.4 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas. NCRV0000000117 25673412 NONHSAT186577.1 rs6755502 T N/A up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women EFO_0004342 N/A Associate Waist circumference rs6755502-T of NONHSAT186577.1 is significantly associated with the waist circumference by using GWAS analysis in up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women(p-value = 2E-15 ;OR = 0.0492). 0.4 New genetic loci link adipose and insulin biology to body fat distribution. NCRV0000001374 24927181 NONHSAT022207.2 rs478304 T N/A 1,893 european ancestry cases//5,132 european ancestry controls; 2,063 european ancestry cases//1,970 european ancestry controls EFO_0003894 N/A Associate Acne (severe) rs478304-T of NONHSAT022207.2 is significantly associated with the acne (severe) by using GWAS analysis in 1,893 european ancestry cases//5,132 european ancestry controls; 2,063 european ancestry cases//1,970 european ancestry controls(p-value = 3E-11 ;OR = 1.2). 0.4 Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. NCRV0000001940 28604730 NONHSAT206401.1 rs34357052 C N/A 29,266 european ancestry cases//56,450 european ancestry controls EFO_0001071 N/A Associate Lung cancer rs34357052-C of NONHSAT206401.1 is significantly associated with the lung cancer by using GWAS analysis in 29,266 european ancestry cases//56,450 european ancestry controls(p-value = 3E-6 ;OR = 1.0624987). 0.4 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. NCRV0000003829 20596022 NONHSAT200339.1 rs7682241 A N/A up to 1,054 european ancestry cases//3,278 european ancestry controls EFO_0004192 N/A Associate Alopecia areata rs7682241-A of NONHSAT200339.1 is significantly associated with the alopecia areata by using GWAS analysis in up to 1,054 european ancestry cases//3,278 european ancestry controls(p-value = 4E-8 ;OR = 1.34). 0.4 Genome-wide association study in alopecia areata implicates both innate and adaptive immunity. NCRV0000000604 19767753 NONHSAT200257.1 rs7679673 ? N/A 1,854 european ancestry cases//1,894 european ancestry controls; 19,879 cases and 18,761 controls of european//east asian//african american//latino//and hawaiian ancestry EFO_0001663 N/A Associate Prostate cancer rs7679673-? of NONHSAT200257.1 is significantly associated with the prostate cancer by using GWAS analysis in 1,854 european ancestry cases//1,894 european ancestry controls; 19,879 cases and 18,761 controls of european//east asian//african american//latino//and hawaiian ancestry(p-value = 3E-14 ;OR = 1.1). 0.4 Identification of seven new prostate cancer susceptibility loci through a genome-wide association study. NCRV0000003738 23400010 NONHSAT161977.1 rs7965364 T N/A 425 european ancestry cases//342 african american cases EFO_0000537 Thiazide-induced Associate Thiazide-induced adverse metabolic effects in hypertensive patients rs7965364-T of NONHSAT161977.1 is significantly associated with the thiazide-induced adverse metabolic effects in hypertensive patients by using GWAS analysis in 425 european ancestry cases//342 african american cases(p-value = 6E-6 ;OR = 3.79). 0.4 Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans. NCRV0000000959 23824729 NONHSAT031256.2 rs2251468 A N/A 44,147 european ancestry individuals EFO_0000378 N/A Associate Homocysteine levels rs2251468-A of NONHSAT031256.2 is significantly associated with the homocysteine levels by using GWAS analysis in 44,147 european ancestry individuals(p-value = 1E-12 ;OR = 0.0512). 0.4 Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease. NCRV0000003673 25524916 NONHSAT022816.2 rs10898909 ? N/A up to 4,176 mexican american individuals EFO_0001360 N/A Associate Glucose homeostasis traits rs10898909-? of NONHSAT022816.2 is significantly associated with the glucose homeostasis traits by using GWAS analysis in up to 4,176 mexican american individuals(p-value = 4E-6 ;OR = 1.41). 0.4 Genetic Variants Associated With Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium. NCRV0000000033 25961943 NONHSAT179794.1 rs1065853 G N/A up 62,166 european ancestry individuals EFO_0000319 N/A Associate Ldl cholesterol rs1065853-G of NONHSAT179794.1 is significantly associated with the ldl cholesterol by using GWAS analysis in up 62,166 european ancestry individuals(p-value = 5E-324 ;OR = 0.603). 0.4 The impact of low-frequency and rare variants on lipid levels. NCRV0000002527 23568457 NONHSAT048141.2 rs8024343 A N/A 151 european ancestry female cases//2,291 european ancestry female controls EFO_0005204 N/A Associate Bulimia nervosa rs8024343-A of NONHSAT048141.2 is significantly associated with the bulimia nervosa by using GWAS analysis in 151 european ancestry female cases//2,291 european ancestry female controls(p-value = 6E-6 ;OR = 0.045). 0.4 Genetic variants associated with disordered eating. NCRV0000003138 25918132 NONHSAT170599.1 rs74609360 A N/A 74 european ancestry cases//824 european ancestry controls EFO_0000270 N/A Associate Diisocyanate-induced asthma rs74609360-A of NONHSAT170599.1 is significantly associated with the diisocyanate-induced asthma by using GWAS analysis in 74 european ancestry cases//824 european ancestry controls(p-value = 2E-7 ;OR = 4.14). 0.4 Genome-Wide Association Study Identifies Novel Loci Associated With Diisocyanate-Induced Occupational Asthma. NCRV0000001069 27863252 NONHSAT208974.1 rs34794906 C N/A 170,641 european ancestry individuals EFO_0007986 N/A Associate Reticulocyte count rs34794906-C of NONHSAT208974.1 is significantly associated with the reticulocyte count by using GWAS analysis in 170,641 european ancestry individuals(p-value = 2E-23 ;OR = 0.04089973). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002815 20139978 NONHSAT013359.2 rs7085433 A N/A 14,364 japanese ancestry individuals EFO_0004526 N/A Associate Mean corpuscular volume rs7085433-A of NONHSAT013359.2 is significantly associated with the mean corpuscular volume by using GWAS analysis in 14,364 japanese ancestry individuals(p-value = 7E-9 ;OR = 0.095). 0.4 Genome-wide association study of hematological and biochemical traits in a Japanese population. NCRV0000001000 23251661 NONHSAT047580.2 rs8040868 G N/A 815 hispanic children from 263 families EFO_0005109 N/A Associate Obesity-related traits rs8040868-G of NONHSAT047580.2 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 6E-8 ;OR = 0.05). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. NCRV0000002166 20139978 NONHSAT013359.2 rs7085433 A N/A up to 14,362 japanese ancestry individuals EFO_0004527 N/A Associate Mean corpuscular hemoglobin rs7085433-A of NONHSAT013359.2 is significantly associated with the mean corpuscular hemoglobin by using GWAS analysis in up to 14,362 japanese ancestry individuals(p-value = 6E-10 ;OR = 0.102). 0.4 Genome-wide association study of hematological and biochemical traits in a Japanese population. NCRV0000000276 29071344 NONHSAT156769.1 rs2886497 G N/A 3,041 african american individuals//1,618 european ancestry individuals; 1,612 african american individuals//1,551 european ancestry individuals EFO_0003761 N/A Associate Major depression and alcohol dependence rs2886497-G of NONHSAT156769.1 is significantly associated with the major depression and alcohol dependence by using GWAS analysis in 3,041 african american individuals//1,618 european ancestry individuals; 1,612 african american individuals//1,551 european ancestry individuals(p-value = 6E-6 ;OR = 0.44). 0.4 Genetic Risk Variants Associated With Comorbid Alcohol Dependence and Major Depression. NCRV0000002299 27992416 NONHSAT185367.1 rs62158211 ? N/A at least 112,586 european ancestry individuals EFO_0008568 N/A Associate Sleep traits (multi-trait analysis) rs62158211-? of NONHSAT185367.1 is significantly associated with the sleep traits (multi-trait analysis) by using GWAS analysis in at least 112,586 european ancestry individuals(p-value = 8E-13 ;OR = ?). 0.4 Genome-wide association analyses of sleep disturbance traits identify new loci and highlight shared genetics with neuropsychiatric and metabolic traits. NCRV0000003012 28029757 NONHSAT207134.1 rs141530233 ? N/A 1,015 european ancestry granulomatosis with polyangiitis cases//206 european ancestry microscopic polyangiitis cases//3,258 european ancestry controls.; 541 european ancestry granulomatosis with polyangiitis cases//30 european ancestry microscopic polyangiitis cases//1,465 european ancestry controls. EFO_0004826 N/A Associate Antineutrophil cytoplasmic antibody-associated vasculitis rs141530233-? of NONHSAT207134.1 is significantly associated with the antineutrophil cytoplasmic antibody-associated vasculitis by using GWAS analysis in 1,015 european ancestry granulomatosis with polyangiitis cases//206 european ancestry microscopic polyangiitis cases//3,258 european ancestry controls.; 541 european ancestry granulomatosis with polyangiitis cases//30 european ancestry microscopic polyangiitis cases//1,465 european ancestry controls.(p-value = 1E-89 ;OR = 2.99). 0.4 Identification of Functional and Expression Polymorphisms Associated With Risk for Antineutrophil Cytoplasmic Autoantibody-Associated Vasculitis. NCRV0000000286 25778476 NONHSAT187478.1 rs4663105 C N/A 7,184 cases//26,968 controls; 718 european ancestry cases//1,699 european ancestry controls EFO_0000249 N/A Associate Alzheimer's disease in apoe e4- carriers rs4663105-C of NONHSAT187478.1 is significantly associated with the alzheimer's disease in apoe e4- carriers by using GWAS analysis in 7,184 cases//26,968 controls; 718 european ancestry cases//1,699 european ancestry controls(p-value = 2E-12 ;OR = 1.19). 0.4 A novel Alzheimer disease locus located near the gene encoding tau protein. NCRV0000000982 27117709 NONHSAT202081.1 rs2736108 ? N/A 4,939 european ancestry cases//14,352 european ancestry controls; 7,333 european ancestry cases//42,468 european ancestry controls EFO_1000650 N/A Associate Breast cancer (estrogen-receptor negative) rs2736108-? of NONHSAT202081.1 is significantly associated with the breast cancer (estrogen-receptor negative) by using GWAS analysis in 4,939 european ancestry cases//14,352 european ancestry controls; 7,333 european ancestry cases//42,468 european ancestry controls(p-value = 1E-8 ;OR = 1.1235955). 0.4 Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer. NCRV0000001589 27863252 NONHSAT211179.1 rs9376098 A N/A 171,846 european ancestry individuals EFO_0005090 N/A Associate White blood cell count (basophil) rs9376098-A of NONHSAT211179.1 is significantly associated with the white blood cell count (basophil) by using GWAS analysis in 171,846 european ancestry individuals(p-value = 6E-9 ;OR = 0.021378). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002213 22041458 NONHSAT218823.1 rs17766217 A N/A 1,151 european ancestry cases//288 african american cases EFO_0006320 N/A Associate Response to anti-depressant treatment in major depressive disorder rs17766217-A of NONHSAT218823.1 is significantly associated with the response to anti-depressant treatment in major depressive disorder by using GWAS analysis in 1,151 european ancestry cases//288 african american cases(p-value = 3E-7 ;OR = ?). 0.4 Pharmacogenomic study of side-effects for antidepressant treatment options in STAR*D. NCRV0000003299 28613276 NONHSAT112236.2 rs236349 G N/A 27,850 european ancestry individuals; 24,125 european ancestry individuals//11,234 hispanic/latino individuals//6,899 african american individuals MONDO_0000992 N/A Associate Heart rate variability traits (pvrsa/hf) rs236349-G of NONHSAT112236.2 is significantly associated with the heart rate variability traits (pvrsa/hf) by using GWAS analysis in 27,850 european ancestry individuals; 24,125 european ancestry individuals//11,234 hispanic/latino individuals//6,899 african american individuals(p-value = 3E-15 ;OR = 0.068785). 0.4 Genetic loci associated with heart rate variability and their effects on cardiac disease risk. NCRV0000001438 23669352 NONHSAT178539.1 rs723486 T N/A up to 13,627 european ancestry individuals; up to 16,253 european ancestry individuals EFO_0001073 N/A Associate Body mass index rs723486-T of NONHSAT178539.1 is significantly associated with the body mass index by using GWAS analysis in up to 13,627 european ancestry individuals; up to 16,253 european ancestry individuals(p-value = 4E-17 ;OR = 0.081). 0.4 Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course. NCRV0000000728 19079262 NONHSAT184477.1 rs4670779 T N/A 6,865 european ancestry individuals; 8,510 european ancestry individuals EFO_0007701 N/A Associate Bone mineral density (spine) rs4670779-T of NONHSAT184477.1 is significantly associated with the bone mineral density (spine) by using GWAS analysis in 6,865 european ancestry individuals; 8,510 european ancestry individuals(p-value = 4E-6 ;OR = 0.07). 0.4 New sequence variants associated with bone mineral density. NCRV0000000669 29235454 NONHSAT196752.1 rs13076750 ? N/A 56,819 european ancestry individuals//5,748 hispanic/latino individuals//5,119 east asian ancestry individuals//2,070 african american individuals; 37,930 european and asian ancestry individuals EFO_0004695 N/A Associate Intraocular pressure rs13076750-? of NONHSAT196752.1 is significantly associated with the intraocular pressure by using GWAS analysis in 56,819 european ancestry individuals//5,748 hispanic/latino individuals//5,119 east asian ancestry individuals//2,070 african american individuals; 37,930 european and asian ancestry individuals(p-value = 1E-13 ;OR = 0.1). 0.4 A large multi-ethnic genome-wide association study identifies novel genetic loci for intraocular pressure. NCRV0000003887 23527680 NONHSAT218631.1 rs6983777 A N/A 1,851 individuals; 155 individuals EFO_0003888 N/A Associate Attention deficit hyperactivity disorder (combined symptoms) rs6983777-A of NONHSAT218631.1 is significantly associated with the attention deficit hyperactivity disorder (combined symptoms) by using GWAS analysis in 1,851 individuals; 155 individuals(p-value = 8E-6 ;OR = ?). 0.4 Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits. NCRV0000002335 26174813 NONHSAT090061.2 rs4681767 T N/A 479 european ancestry adult cases EFO_0003888 N/A Associate Attention function in attention deficit hyperactive disorder rs4681767-T of NONHSAT090061.2 is significantly associated with the attention function in attention deficit hyperactive disorder by using GWAS analysis in 479 european ancestry adult cases(p-value = 8E-6 ;OR = 0.18). 0.4 New suggestive genetic loci and biological pathways for attention function in adult attention-deficit/hyperactivity disorder. NCRV0000001748 24782177 NONHSAT210397.1 rs7748270 T N/A 433 han chinese ancestry acpa positive cases//519 han chinese ancestry acpa negative cases//943 han chinese ancestry controls; 1,032 han chinese ancestry acpa positive cases//1,100 han chinese ancestry acpa negative cases//2,553 han chinese ancestry controls EFO_0000685 N/A Associate Rheumatoid arthritis rs7748270-T of NONHSAT210397.1 is significantly associated with the rheumatoid arthritis by using GWAS analysis in 433 han chinese ancestry acpa positive cases//519 han chinese ancestry acpa negative cases//943 han chinese ancestry controls; 1,032 han chinese ancestry acpa positive cases//1,100 han chinese ancestry acpa negative cases//2,553 han chinese ancestry controls(p-value = 1E-16 ;OR = 2.01). 0.4 Novel risk loci for rheumatoid arthritis in Han Chinese and congruence with risk variants in Europeans. NCRV0000002855 27863252 NONHSAT162404.1 rs1800973 A N/A 170,494 european ancestry individuals EFO_0007989 N/A Associate Monocyte percentage of white cells rs1800973-A of NONHSAT162404.1 is significantly associated with the monocyte percentage of white cells by using GWAS analysis in 170,494 european ancestry individuals(p-value = 4E-46 ;OR = 0.1056857). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003410 21926972 NONHSAT170667.1 rs12912251 G N/A 7,481 european ancestry cases//9,250 european ancestry controls; 4,496 european ancestry cases//42,422 european ancestry controls EFO_0000289 N/A Associate Bipolar disorder rs12912251-G of NONHSAT170667.1 is significantly associated with the bipolar disorder by using GWAS analysis in 7,481 european ancestry cases//9,250 european ancestry controls; 4,496 european ancestry cases//42,422 european ancestry controls(p-value = 3E-6 ;OR = 1.1). 0.4 Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. NCRV0000001744 29058716 NONHSAT202082.1 rs3215401 A N/A 14,135 european ancestry cases//58,126 european ancestry controls; 7,333 european ancestry cases//42,468 european ancestry controls EFO_1000650 N/A Associate Breast cancer (estrogen-receptor negative) rs3215401-A of NONHSAT202082.1 is significantly associated with the breast cancer (estrogen-receptor negative) by using GWAS analysis in 14,135 european ancestry cases//58,126 european ancestry controls; 7,333 european ancestry cases//42,468 european ancestry controls(p-value = 6E-21 ;OR = 1.1363636). 0.4 Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer. NCRV0000003879 28736931 NONHSAT189647.1 rs41308713 ? N/A 781 european ancestry individuals//138 african american ancestry individuals//345 unknown ancestry individuals; EFO_0001360 fenofibrate Associate Triglyceride change in response to fenofibrate in statin-treated type 2 diabetes rs41308713-? of NONHSAT189647.1 is significantly associated with the triglyceride change in response to fenofibrate in statin-treated type 2 diabetes by using GWAS analysis in 781 european ancestry individuals//138 african american ancestry individuals//345 unknown ancestry individuals; (p-value = 2E-7 ;OR = 0.114). 0.4 Genetic Variants in HSD17B3, SMAD3, and IPO11 Impact Circulating Lipids in Response to Fenofibrate in Individuals With Type 2 Diabetes. NCRV0000002382 26390057 NONHSAT186864.1 rs7604423 C N/A 31,516 east asian ancestry individuals// 35,352 european ancestry individuals//33,126 south asian ancestry individuals; 87,205 individuals//48,268 east asian ancestry individuals//68,456 european ancestry individuals//16,328 south asian ancestry individuals EFO_0006336 N/A Associate Diastolic blood pressure rs7604423-C of NONHSAT186864.1 is significantly associated with the diastolic blood pressure by using GWAS analysis in 31,516 east asian ancestry individuals// 35,352 european ancestry individuals//33,126 south asian ancestry individuals; 87,205 individuals//48,268 east asian ancestry individuals//68,456 european ancestry individuals//16,328 south asian ancestry individuals(p-value = 2E-8 ;OR = 0.2093915). 0.4 Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation. NCRV0000002676 23284291 NONHSAT047580.2 rs8040868 T N/A 50,047 european ancestry individuals EFO_0003892 smoking interaction Associate Pulmonary function (smoking interaction) rs8040868-T of NONHSAT047580.2 is significantly associated with the pulmonary function (smoking interaction) by using GWAS analysis in 50,047 european ancestry individuals(p-value = 7E-7 ;OR = ?). 0.4 Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function. NCRV0000003800 23064961 NONHSAT148276.1 rs3896439 ? N/A 920 european ancestry individuals EFO_0003819 N/A Associate Dental caries rs3896439-? of NONHSAT148276.1 is significantly associated with the dental caries by using GWAS analysis in 920 european ancestry individuals(p-value = 2E-8 ;OR = ?). 0.4 GWAS of dental caries patterns in the permanent dentition. NCRV0000003297 23251661 NONHSAT161055.1 rs10833583 A N/A 815 hispanic children from 263 families EFO_0005118 N/A Associate Obesity-related traits rs10833583-A of NONHSAT161055.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 7E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. NCRV0000001768 27569725 NONHSAT006652.2 rs3766920 A N/A 1,505 korean ancestry cases//4,041 korean ancestry controls; 1,989 korean ancestry cases//3,491 korean ancestry controls EFO_0003767 N/A Associate Inflammatory bowel disease rs3766920-A of NONHSAT006652.2 is significantly associated with the inflammatory bowel disease by using GWAS analysis in 1,505 korean ancestry cases//4,041 korean ancestry controls; 1,989 korean ancestry cases//3,491 korean ancestry controls(p-value = 2E-9 ;OR = 1.35). 0.4 Identification of Loci at 1q21 and 16q23 That Affect Susceptibility to Inflammatory Bowel Disease in Koreans. NCRV0000000557 28240269 NONHSAT196716.1 rs5030062 C N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0004694 N/A Associate Blood protein levels rs5030062-C of NONHSAT196716.1 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 3E-40 ;OR = 0.5581). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. NCRV0000000472 25897834 NONHSAT083319.2 rs1210638 ? N/A 298 european ancestry cases//567 asian ancestry cases//1529 european and other ancestry cases EFO_0003761 serotonin reuptake inhibitors Associate Response to serotonin reuptake inhibitors in major depressive disorder rs1210638-? of NONHSAT083319.2 is significantly associated with the response to serotonin reuptake inhibitors in major depressive disorder by using GWAS analysis in 298 european ancestry cases//567 asian ancestry cases//1529 european and other ancestry cases(p-value = 6E-6 ;OR = 1.33). 0.4 The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response. NCRV0000003003 27863252 NONHSAT056521.2 rs3208787 G N/A 171,529 european ancestry individuals EFO_0005192 N/A Associate Red cell distribution width rs3208787-G of NONHSAT056521.2 is significantly associated with the red cell distribution width by using GWAS analysis in 171,529 european ancestry individuals(p-value = 1E-11 ;OR = 0.03248959). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002696 28928442 NONHSAT159357.1 rs72931768 G N/A 46,936 european ancestry cases//74,874 european ancestry controls EFO_0007904 N/A Associate Childhood ear infection rs72931768-G of NONHSAT159357.1 is significantly associated with the childhood ear infection by using GWAS analysis in 46,936 european ancestry cases//74,874 european ancestry controls(p-value = 3E-9 ;OR = 1.09). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. NCRV0000000365 21700265 NONHSAT151288.1 rs1043879 ? N/A 1,979 european ancestry individuals; 5,628 european ancestry individuals EFO_0004304 N/A Associate Erythrocyte sedimentation rate rs1043879-? of NONHSAT151288.1 is significantly associated with the erythrocyte sedimentation rate by using GWAS analysis in 1,979 european ancestry individuals; 5,628 european ancestry individuals(p-value = 2E-9 ;OR = 0.09). 0.4 Complement receptor 1 gene variants are associated with erythrocyte sedimentation rate. NCRV0000003200 26634245 NONHSAT184659.1 rs180765220 T N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs180765220-T of NONHSAT184659.1 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 5E-6 ;OR = 0.168). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000002353 23453885 NONHSAT190018.1 rs159788 G N/A 6,990 european ancestry bipolar disorder cases//9,227 european ancestry major depressive disorder cases//9,379 european ancestry schizophrenia cases//161 european ancestry autism spectrum disorder cases//4,788 european ancestry autism spectrum disorder trio cases//840 european ancestry attention deficit-hyperactivity disorder cases//1,947 european ancestry attention defcit-hyperactivity disorder trio cases//27,888 european ancestry controls EFO_0000677 N/A Associate Autism spectrum disorder//attention deficit-hyperactivity disorder//bipolar disorder//major depressive disorder//and schizophrenia (combined) rs159788-G of NONHSAT190018.1 is significantly associated with the autism spectrum disorder//attention deficit-hyperactivity disorder//bipolar disorder//major depressive disorder//and schizophrenia (combined) by using GWAS analysis in 6,990 european ancestry bipolar disorder cases//9,227 european ancestry major depressive disorder cases//9,379 european ancestry schizophrenia cases//161 european ancestry autism spectrum disorder cases//4,788 european ancestry autism spectrum disorder trio cases//840 european ancestry attention deficit-hyperactivity disorder cases//1,947 european ancestry attention defcit-hyperactivity disorder trio cases//27,888 european ancestry controls(p-value = 7E-6 ;OR = 1.012). 0.4 Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. NCRV0000002690 26691988 NONHSAT179793.1 rs429358 ? N/A 16,144 european ancestry cases//17,832 european ancestry controls; 473 asian ancestry cases//1,099 asian ancestry controls//52 african ancestry cases//361 african ancestry cases//254 other non-european ancestry cases//694 other non-european ancestry controls EFO_0001365 N/A Associate Advanced age-related macular degeneration rs429358-? of NONHSAT179793.1 is significantly associated with the advanced age-related macular degeneration by using GWAS analysis in 16,144 european ancestry cases//17,832 european ancestry controls; 473 asian ancestry cases//1,099 asian ancestry controls//52 african ancestry cases//361 african ancestry cases//254 other non-european ancestry cases//694 other non-european ancestry controls(p-value = 2E-42 ;OR = 1.4285715). 0.4 A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants. NCRV0000001570 25387706 NONHSAT154130.1 rs3007711 ? N/A up to 4,424 european ancestry twins and their parents EFO_0000677 N/A Associate Electrodermal activity rs3007711-? of NONHSAT154130.1 is significantly associated with the electrodermal activity by using GWAS analysis in up to 4,424 european ancestry twins and their parents(p-value = 9E-6 ;OR = 0.051). 0.4 Heritability and molecular genetic basis of electrodermal activity: a genome-wide association study. NCRV0000001636 25865494 NONHSAT035181.2 rs2277425 G N/A 3,545 african americans individuals//12,965 european ancestry women//8,625 european ancestry men EFO_0007118 N/A Associate Sitting height ratio rs2277425-G of NONHSAT035181.2 is significantly associated with the sitting height ratio by using GWAS analysis in 3,545 african americans individuals//12,965 european ancestry women//8,625 european ancestry men(p-value = 8E-6 ;OR = 0.075). 0.4 Genome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal Development. NCRV0000001892 20921969 NONHSAT107086.2 rs4959235 ? N/A 738 european//african american//hispanic//and other ancestry schizophrenia cases GO_0097335 N/A Associate Antipsychotic drug-induced qtc interval prolongation rs4959235-? of NONHSAT107086.2 is significantly associated with the antipsychotic drug-induced qtc interval prolongation by using GWAS analysis in 738 european//african american//hispanic//and other ancestry schizophrenia cases(p-value = 2E-7 ;OR = ?). 0.4 Genome-wide association study of antipsychotic-induced QTc interval prolongation. NCRV0000000911 26198764 NONHSAT156535.1 rs17731 A N/A 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls EFO_0000692 N/A Associate Schizophrenia rs17731-A of NONHSAT156535.1 is significantly associated with the schizophrenia by using GWAS analysis in 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls(p-value = 2E-6 ;OR = 1.05). 0.4 Genome-wide association study of schizophrenia in Ashkenazi Jews. NCRV0000002807 27863252 NONHSAT175429.1 rs56378716 G N/A 170,384 european ancestry individuals EFO_0009390 N/A Associate Sum neutrophil eosinophil counts rs56378716-G of NONHSAT175429.1 is significantly associated with the sum neutrophil eosinophil counts by using GWAS analysis in 170,384 european ancestry individuals(p-value = 3E-17 ;OR = 0.1350541). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002363 26634245 NONHSAT164173.1 rs75311705 A N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs75311705-A of NONHSAT164173.1 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 3E-7 ;OR = 0.56). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000002525 19581569 NONHSAT204489.1 rs13160562 G N/A 476 european ancestry cases//1,358 european ancestry controls; 1,024 european ancestry cases//996 european ancestry controls EFO_0003829 N/A Associate Alcohol dependence rs13160562-G of NONHSAT204489.1 is significantly associated with the alcohol dependence by using GWAS analysis in 476 european ancestry cases//1,358 european ancestry controls; 1,024 european ancestry cases//996 european ancestry controls(p-value = 7E-6 ;OR = 1.27). 0.4 Genome-wide association study of alcohol dependence. NCRV0000000478 26830138 NONHSAT145730.2 rs139471609 A N/A 2,478 european ancestry cases//979 ancestry controls both from the same 1,070 families EFO_0000249 N/A Associate Alzheimer disease and age of onset rs139471609-A of NONHSAT145730.2 is significantly associated with the alzheimer disease and age of onset by using GWAS analysis in 2,478 european ancestry cases//979 ancestry controls both from the same 1,070 families(p-value = 6E-8 ;OR = 5.433). 0.4 Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3. NCRV0000002800 27863252 NONHSAT010798.2 rs3811444 T N/A 172,952 european ancestry individuals EFO_0004305 N/A Associate Red blood cell count rs3811444-T of NONHSAT010798.2 is significantly associated with the red blood cell count by using GWAS analysis in 172,952 european ancestry individuals(p-value = 1E-29 ;OR = 0.04242943). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001266 27863252 NONHSAT010798.2 rs3811444 T N/A 172,435 european ancestry individuals EFO_0004308 N/A Associate White blood cell count rs3811444-T of NONHSAT010798.2 is significantly associated with the white blood cell count by using GWAS analysis in 172,435 european ancestry individuals(p-value = 2E-9 ;OR = 0.02284256). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003522 23251661 NONHSAT170155.1 rs17102423 A N/A 815 hispanic children from 263 families EFO_0005188 N/A Associate Obesity-related traits rs17102423-A of NONHSAT170155.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 4E-7 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. NCRV0000000052 25378659 NONHSAT188483.1 rs680379 A N/A 10,129 european ancestry individuals EFO_0006796 N/A Associate Very long-chain saturated fatty acid levels (fatty acid 20:0) rs680379-A of NONHSAT188483.1 is significantly associated with the very long-chain saturated fatty acid levels (fatty acid 20:0) by using GWAS analysis in 10,129 european ancestry individuals(p-value = 6E-13 ;OR = 7.205). 0.4 Genetic loci associated with circulating levels of very long-chain saturated fatty acids. NCRV0000002719 27863252 NONHSAT197521.1 rs6782812 A N/A 171,846 european ancestry individuals EFO_0005090 N/A Associate White blood cell count (basophil) rs6782812-A of NONHSAT197521.1 is significantly associated with the white blood cell count (basophil) by using GWAS analysis in 171,846 european ancestry individuals(p-value = 1E-96 ;OR = 0.1181745). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000441 25231870 NONHSAT218435.1 rs7821178 C N/A up to 182,413 european ancestry females EFO_0004703 N/A Associate Menarche (age at onset) rs7821178-C of NONHSAT218435.1 is significantly associated with the menarche (age at onset) by using GWAS analysis in up to 182,413 european ancestry females(p-value = 7E-17 ;OR = 0.04). 0.4 Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. NCRV0000001834 27863252 NONHSAT162404.1 rs1800973 A N/A 169,545 european ancestry individuals EFO_0007997 N/A Associate Granulocyte percentage of myeloid white cells rs1800973-A of NONHSAT162404.1 is significantly associated with the granulocyte percentage of myeloid white cells by using GWAS analysis in 169,545 european ancestry individuals(p-value = 1E-31 ;OR = 0.08705901). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000873 27989323 NONHSAT130766.2 rs184329319 G N/A 3,631 finnish ancestry individuals EFO_0005140 N/A Associate Ctack levels rs184329319-G of NONHSAT130766.2 is significantly associated with the ctack levels by using GWAS analysis in 3,631 finnish ancestry individuals(p-value = 8E-6 ;OR = 0.2919). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. NCRV0000001464 28199695 NONHSAT162383.1 rs3741647 T N/A 16,576 european ancestry individuals EFO_0008380 N/A Associate Perceived unattractiveness to mosquitoes rs3741647-T of NONHSAT162383.1 is significantly associated with the perceived unattractiveness to mosquitoes by using GWAS analysis in 16,576 european ancestry individuals(p-value = 3E-6 ;OR = 0.109497). 0.4 GWAS of self-reported mosquito bite size, itch intensity and attractiveness to mosquitoes implicates immune-related predisposition loci. NCRV0000001066 27863252 NONHSAT053659.2 rs11079018 G N/A 170,761 european ancestry individuals EFO_0007986 N/A Associate High light scatter reticulocyte count rs11079018-G of NONHSAT053659.2 is significantly associated with the high light scatter reticulocyte count by using GWAS analysis in 170,761 european ancestry individuals(p-value = 3E-19 ;OR = 0.05845597). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001017 21037568 NONHSAT217627.1 rs2019960 G N/A 589 european ancestry cases//5,199 european ancestry controls; 2,057 european ancestry cases//3,416 european ancestry controls EFO_0000183 N/A Associate Hodgkin's lymphoma rs2019960-G of NONHSAT217627.1 is significantly associated with the hodgkin's lymphoma by using GWAS analysis in 589 european ancestry cases//5,199 european ancestry controls; 2,057 european ancestry cases//3,416 european ancestry controls(p-value = 1E-13 ;OR = 1.33). 0.4 A genome-wide association study of Hodgkin's lymphoma identifies new susceptibility loci at 2p16.1 (REL), 8q24.21 and 10p14 (GATA3). NCRV0000002600 28453575 NONHSAT139199.2 rs1050828 T N/A 12,502 hispanic/latino individuals; 4,772 hispanic/latino individuals EFO_0005192 N/A Associate Red cell distribution width rs1050828-T of NONHSAT139199.2 is significantly associated with the red cell distribution width by using GWAS analysis in 12,502 hispanic/latino individuals; 4,772 hispanic/latino individuals(p-value = 4E-29 ;OR = 0.04). 0.4 Genome-wide association study of red blood cell traits in Hispanics/Latinos: The Hispanic Community Health Study/Study of Latinos. NCRV0000002072 28928442 NONHSAT084729.2 rs113028550 ? N/A 60,098 european ancestry cases//113,323 european ancestry controls EFO_0007924 N/A Associate Tonsillectomy rs113028550-? of NONHSAT084729.2 is significantly associated with the tonsillectomy by using GWAS analysis in 60,098 european ancestry cases//113,323 european ancestry controls(p-value = 1E-31 ;OR = 0.1066). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. NCRV0000002217 27863252 NONHSAT195296.1 rs11428167 AT N/A 172,952 european ancestry individuals EFO_0004305 N/A Associate Red blood cell count rs11428167-AT of NONHSAT195296.1 is significantly associated with the red blood cell count by using GWAS analysis in 172,952 european ancestry individuals(p-value = 4E-20 ;OR = 0.04815017). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000122 29064472 NONHSAT168969.1 rs3783364 G N/A 114 african ancestry schizophrenia cases//69 african schizo-affective cases//41 african ancestry bipolar disorder cases//76 african ancestry controls//116 european ancestry schizophrenia cases//86 european ancestry schizo-affective cases//165 european ancestry bipolar disorder cases//182 european ancestry controls EFO_0000677 N/A Associate Anti-saccade response rs3783364-G of NONHSAT168969.1 is significantly associated with the anti-saccade response by using GWAS analysis in 114 african ancestry schizophrenia cases//69 african schizo-affective cases//41 african ancestry bipolar disorder cases//76 african ancestry controls//116 european ancestry schizophrenia cases//86 european ancestry schizo-affective cases//165 european ancestry bipolar disorder cases//182 european ancestry controls(p-value = 8E-6 ;OR = ?). 0.4 Genome-wide association studies of smooth pursuit and antisaccade eye movements in psychotic disorders: findings from the B-SNIP study. NCRV0000002113 27863252 NONHSAT173451.1 rs2968478 G N/A 170,761 european ancestry individuals EFO_0007986 N/A Associate High light scatter reticulocyte count rs2968478-G of NONHSAT173451.1 is significantly associated with the high light scatter reticulocyte count by using GWAS analysis in 170,761 european ancestry individuals(p-value = 2E-14 ;OR = 0.02842473). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000451 20195514 NONHSAT176513.1 rs8079702 G N/A 5,919 european ancestry related individuals GO_0042476 N/A Associate Primary tooth development (number of teeth) rs8079702-G of NONHSAT176513.1 is significantly associated with the primary tooth development (number of teeth) by using GWAS analysis in 5,919 european ancestry related individuals(p-value = 1E-14 ;OR = ?). 0.4 Genome-wide association study reveals multiple loci associated with primary tooth development during infancy. NCRV0000001023 21386085 NONHSAT179794.1 rs439401 C N/A 22,161 european ancestry individuals EFO_0000319 N/A Associate Hdl cholesterol - triglycerides (hdlc-tg) rs439401-C of NONHSAT179794.1 is significantly associated with the hdl cholesterol - triglycerides (hdlc-tg) by using GWAS analysis in 22,161 european ancestry individuals(p-value = 1E-8 ;OR = 0.24). 0.4 A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium. NCRV0000003057 28957384 NONHSAT172780.1 rs413117 ? N/A 1,421 european ancestry cases//154 hispanic/latino cases//121 east asian ancestry cases//81,843 european ancestry controls//8,406 hispanic/latino controls//7,397 east asian ancestry controls EFO_1002021 N/A Associate Ankle injury rs413117-? of NONHSAT172780.1 is significantly associated with the ankle injury by using GWAS analysis in 1,421 european ancestry cases//154 hispanic/latino cases//121 east asian ancestry cases//81,843 european ancestry controls//8,406 hispanic/latino controls//7,397 east asian ancestry controls(p-value = 3E-6 ;OR = 1.2232416). 0.4 Two genetic loci associated with ankle injury. NCRV0000000652 22863734 NONHSAT029376.2 rs1373453 ? N/A up to 666 european ancestry trios//399 european ancestry cases//1,318 european ancestry controls; up to 795 east asian ancestry trios MONDO_0000358 N/A Associate Orofacial clefts rs1373453-? of NONHSAT029376.2 is significantly associated with the orofacial clefts by using GWAS analysis in up to 666 european ancestry trios//399 european ancestry cases//1,318 european ancestry controls; up to 795 east asian ancestry trios(p-value = 2E-6 ;OR = ?). 0.4 Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci. NCRV0000002892 27863252 NONHSAT182281.1 rs34020101 T N/A 171,771 european ancestry individuals EFO_0009389 N/A Associate Sum eosinophil basophil counts rs34020101-T of NONHSAT182281.1 is significantly associated with the sum eosinophil basophil counts by using GWAS analysis in 171,771 european ancestry individuals(p-value = 8E-32 ;OR = 0.04280614). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003082 18846501 NONHSAT217877.1 rs4875598 G N/A 909 european ancestry trios EFO_0003888 N/A Associate Attention deficit hyperactivity disorder symptoms (maternal expressed emotions interaction) rs4875598-G of NONHSAT217877.1 is significantly associated with the attention deficit hyperactivity disorder symptoms (maternal expressed emotions interaction) by using GWAS analysis in 909 european ancestry trios(p-value = 9E-6 ;OR = 0.94). 0.4 Does parental expressed emotion moderate genetic effects in ADHD? An exploration using a genome wide association scan. NCRV0000002604 19122664 NONHSAT003779.2 rs11209026 ? N/A 1,022 european ancestry cases//2,503 european ancestry controls; 1,387 european ancestry cases//1,115 european ancestry controls EFO_0000729 N/A Associate Ulcerative colitis rs11209026-? of NONHSAT003779.2 is significantly associated with the ulcerative colitis by using GWAS analysis in 1,022 european ancestry cases//2,503 european ancestry controls; 1,387 european ancestry cases//1,115 european ancestry controls(p-value = 1E-8 ;OR = 1.79). 0.4 Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study. NCRV0000002312 26634245 NONHSAT171813.1 rs35583595 C N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs35583595-C of NONHSAT171813.1 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 4E-7 ;OR = 0.048). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000000119 26053186 NONHSAT162396.1 rs57514780 ? N/A 362 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//438 european ancestry current smoker individuals//449 latino current smoker individuals//704 japanese ancestry current smoker individuals EFO_0001071 in smokers Associate 3-hydroxypropylmercapturic acid levels in smokers rs57514780-? of NONHSAT162396.1 is significantly associated with the 3-hydroxypropylmercapturic acid levels in smokers by using GWAS analysis in 362 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//438 european ancestry current smoker individuals//449 latino current smoker individuals//704 japanese ancestry current smoker individuals(p-value = 1E-7 ;OR = 0.3512). 0.4 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. NCRV0000003647 20383146 NONHSAT079080.2 rs911119 ? N/A up to 67,093 european ancestry individuals; up to 22,982 european ancestry individuals EFO_0003884 N/A Associate Chronic kidney disease rs911119-? of NONHSAT079080.2 is significantly associated with the chronic kidney disease by using GWAS analysis in up to 67,093 european ancestry individuals; up to 22,982 european ancestry individuals(p-value = 2E-138 ;OR = ?). 0.4 New loci associated with kidney function and chronic kidney disease. NCRV0000000404 25350695 NONHSAT179794.1 rs445925 A N/A 18,596 european ancestry individuals; 23,279 european ancestry individuals EFO_0007804 N/A Associate Response to statins (ldl cholesterol change) rs445925-A of NONHSAT179794.1 is significantly associated with the response to statins (ldl cholesterol change) by using GWAS analysis in 18,596 european ancestry individuals; 23,279 european ancestry individuals(p-value = 9E-29 ;OR = 0.051). 0.4 Pharmacogenetic meta-analysis of genome-wide association studies of LDL cholesterol response to statins. NCRV0000000321 26343387 NONHSAT048220.2 rs8042271 G N/A 42,096 european ancestry cases//361 african american cases//758 hispanic american cases//12,658 south asian ancestry cases//1,802 lebanese ancestry cases//3,614 east asian ancestry cases//99,121 european ancestry controls//2,778 african american controls//3,337 hispanic american controls//12,899 south asian ancestry controls//466 lebanese ancestry controls//7,709 east asian ancestry controls EFO_0000378 N/A Associate Coronary artery disease rs8042271-G of NONHSAT048220.2 is significantly associated with the coronary artery disease by using GWAS analysis in 42,096 european ancestry cases//361 african american cases//758 hispanic american cases//12,658 south asian ancestry cases//1,802 lebanese ancestry cases//3,614 east asian ancestry cases//99,121 european ancestry controls//2,778 african american controls//3,337 hispanic american controls//12,899 south asian ancestry controls//466 lebanese ancestry controls//7,709 east asian ancestry controls(p-value = 4E-8 ;OR = 1.1). 0.4 A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease. NCRV0000000255 25676789 NONHSAT164353.1 rs116568708 ? N/A 1,607 european ancestry individuals//238 east asian individuals//84 african american individuals//85 hispanic individuals//13 individuals HP_0002149 allopurinol in gout Associate Serum uric acid levels in response to allopurinol in gout rs116568708-? of NONHSAT164353.1 is significantly associated with the serum uric acid levels in response to allopurinol in gout by using GWAS analysis in 1,607 european ancestry individuals//238 east asian individuals//84 african american individuals//85 hispanic individuals//13 individuals(p-value = 4E-7 ;OR = 2.6169). 0.4 Genome-wide association study identifies ABCG2 (BCRP) as an allopurinol transporter and a determinant of drug response. NCRV0000002688 28067908 NONHSAT191238.1 rs2823286 ? N/A 25,042 european and unknown ancestry cases//34,915 european and unknown ancestry controls EFO_0003767 N/A Associate Inflammatory bowel disease rs2823286-? of NONHSAT191238.1 is significantly associated with the inflammatory bowel disease by using GWAS analysis in 25,042 european and unknown ancestry cases//34,915 european and unknown ancestry controls(p-value = 4E-29 ;OR = ?). 0.4 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. NCRV0000003133 27354352 NONHSAT211293.1 rs2046210 A N/A 7,619 east asian ancestry cases//6,286 east asian ancestry controls; 6,605 east asian ancestry cases//8,543 east asian ancestry controls EFO_0000305 N/A Associate Breast cancer rs2046210-A of NONHSAT211293.1 is significantly associated with the breast cancer by using GWAS analysis in 7,619 east asian ancestry cases//6,286 east asian ancestry controls; 6,605 east asian ancestry cases//8,543 east asian ancestry controls(p-value = 7E-15 ;OR = 1.22). 0.4 Genome-wide association study in East Asians identifies two novel breast cancer susceptibility loci. NCRV0000001734 27863252 NONHSAT207279.1 rs16895831 T N/A 170,384 european ancestry individuals EFO_0009390 N/A Associate Sum neutrophil eosinophil counts rs16895831-T of NONHSAT207279.1 is significantly associated with the sum neutrophil eosinophil counts by using GWAS analysis in 170,384 european ancestry individuals(p-value = 7E-9 ;OR = 0.02596701). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001038 27225129 NONHSAT210292.1 rs6939294 T N/A 405,072 european ancestry individuals EFO_0004784 N/A Associate Educational attainment (years of education) rs6939294-T of NONHSAT210292.1 is significantly associated with the educational attainment (years of education) by using GWAS analysis in 405,072 european ancestry individuals(p-value = 3E-9 ;OR = 0.015577532). 0.4 Genome-wide association study identifies 74 loci associated with educational attainment. NCRV0000000518 26198764 NONHSAT108251.2 rs61747867 T N/A 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls EFO_0000692 N/A Associate Schizophrenia rs61747867-T of NONHSAT108251.2 is significantly associated with the schizophrenia by using GWAS analysis in 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls(p-value = 2E-7 ;OR = 1.07). 0.4 Genome-wide association study of schizophrenia in Ashkenazi Jews. NCRV0000001114 25936594 NONHSAT208963.1 rs886424 A N/A 346 european ancestry cases//727 european ancestry controls; 185 european ancestry cases//340 european ancestry controls EFO_0001359 N/A Associate Type 1 diabetes and autoimmune thyroid diseases rs886424-A of NONHSAT208963.1 is significantly associated with the type 1 diabetes and autoimmune thyroid diseases by using GWAS analysis in 346 european ancestry cases//727 european ancestry controls; 185 european ancestry cases//340 european ancestry controls(p-value = 3E-14 ;OR = 2.2107). 0.4 Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes. NCRV0000000264 23251661 NONHSAT174788.1 rs11658587 A N/A 815 hispanic children from 263 families EFO_0001073 N/A Associate Obesity-related traits rs11658587-A of NONHSAT174788.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 6E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. NCRV0000002025 26502338 NONHSAT055887.2 rs959260 A N/A 5,201 european ancestry cases//9,066 european ancestry controls; 2,018 european ancestry cases//6,925 european ancestry controls EFO_0002690 N/A Associate Systemic lupus erythematosus rs959260-A of NONHSAT055887.2 is significantly associated with the systemic lupus erythematosus by using GWAS analysis in 5,201 european ancestry cases//9,066 european ancestry controls; 2,018 european ancestry cases//6,925 european ancestry controls(p-value = 3E-6 ;OR = 1.14). 0.4 Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus. NCRV0000000624 28476931 NONHSAT192950.1 rs1997885 C N/A 509 pima indian ancestry individuals EFO_0001073 N/A Associate Resting metabolic rate rs1997885-C of NONHSAT192950.1 is significantly associated with the resting metabolic rate by using GWAS analysis in 509 pima indian ancestry individuals(p-value = 2E-6 ;OR = 59.6454). 0.4 A Genome-Wide Association Study Using a Custom Genotyping Array Identifies Variants in GPR158 Associated With Reduced Energy Expenditure in American Indians. NCRV0000002572 27082954 NONHSAT222071.1 rs2479587 C N/A 104 european ancestry cases//1,519 european ancestry controls//34 african american cases//520 african american controls EFO_0004265 traffic-related air pollution interaction Associate Peripheral arterial disease (traffic-related air pollution interaction) rs2479587-C of NONHSAT222071.1 is significantly associated with the peripheral arterial disease (traffic-related air pollution interaction) by using GWAS analysis in 104 european ancestry cases//1,519 european ancestry controls//34 african american cases//520 african american controls(p-value = 2E-6 ;OR = 7.07). 0.4 Genetic Variants in the Bone Morphogenic Protein Gene Family Modify the Association between Residential Exposure to Traffic and Peripheral Arterial Disease. NCRV0000002066 28334935 NONHSAT092201.2 rs6762719 A N/A 12,589 hispanic/latino individuals EFO_0006333 N/A Associate Iron status biomarkers (transferrin saturation) rs6762719-A of NONHSAT092201.2 is significantly associated with the iron status biomarkers (transferrin saturation) by using GWAS analysis in 12,589 hispanic/latino individuals(p-value = 4E-25 ;OR = 0.149). 0.4 Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation? NCRV0000003565 20173735 NONHSAT188374.1 rs1127354 A N/A 988 european ancestry cases//198 african american cases//100 hispanic cases EFO_0004220 N/A Associate Chronic hepatitis c infection rs1127354-A of NONHSAT188374.1 is significantly associated with the chronic hepatitis c infection by using GWAS analysis in 988 european ancestry cases//198 african american cases//100 hispanic cases(p-value = 2E-58 ;OR = ?). 0.4 ITPA gene variants protect against anaemia in patients treated for chronic hepatitis C. NCRV0000003199 22688191 NONHSAT208963.1 rs886424 ? N/A 2,111 european ancestry schizophrenia cases//836 european ancestry bipolar disorder cases//2,535 european ancestry controls EFO_0000677 N/A Associate Bipolar disorder and schizophrenia rs886424-? of NONHSAT208963.1 is significantly associated with the bipolar disorder and schizophrenia by using GWAS analysis in 2,111 european ancestry schizophrenia cases//836 european ancestry bipolar disorder cases//2,535 european ancestry controls(p-value = 9E-7 ;OR = 1.37). 0.4 Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder. NCRV0000003568 27082954 NONHSAT002563.2 rs710913 G N/A 104 european ancestry cases//1,519 european ancestry controls//34 african american cases//520 african american controls EFO_0004265 traffic-related air pollution interaction Associate Peripheral arterial disease (traffic-related air pollution interaction) rs710913-G of NONHSAT002563.2 is significantly associated with the peripheral arterial disease (traffic-related air pollution interaction) by using GWAS analysis in 104 european ancestry cases//1,519 european ancestry controls//34 african american cases//520 african american controls(p-value = 7E-6 ;OR = ?). 0.4 Genetic Variants in the Bone Morphogenic Protein Gene Family Modify the Association between Residential Exposure to Traffic and Peripheral Arterial Disease. NCRV0000003890 28334935 NONHSAT092201.2 rs6762719 A N/A 12,586 hispanic/latino individuals EFO_0006334 N/A Associate Iron status biomarkers (total iron binding capacity) rs6762719-A of NONHSAT092201.2 is significantly associated with the iron status biomarkers (total iron binding capacity) by using GWAS analysis in 12,586 hispanic/latino individuals(p-value = 1E-323 ;OR = 0.676). 0.4 Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation? NCRV0000002778 22139419 NONHSAT145127.2 rs6065 T N/A 38,891 european ancestry individuals//1,661 val borbera (founder/genetic isolate) individuals//521 carlantino (founder/genetic isolate) individuals//1,198 friuli venezia giulia (founder/genetic isolate) individuals//1,213 south tyrolean (founder/genetic isolate) individuals//890 sorbian (founder/genetic isolate) individuals//4,292 sardinian (founder/genetic isolate) individuals; up to 16,949 european ancestry individuals//854 cliento (founder/genetic isolate) individuals//1,035 talana (founder/genetic isolate) individuals EFO_0004309 N/A Associate Platelet count rs6065-T of NONHSAT145127.2 is significantly associated with the platelet count by using GWAS analysis in 38,891 european ancestry individuals//1,661 val borbera (founder/genetic isolate) individuals//521 carlantino (founder/genetic isolate) individuals//1,198 friuli venezia giulia (founder/genetic isolate) individuals//1,213 south tyrolean (founder/genetic isolate) individuals//890 sorbian (founder/genetic isolate) individuals//4,292 sardinian (founder/genetic isolate) individuals; up to 16,949 european ancestry individuals//854 cliento (founder/genetic isolate) individuals//1,035 talana (founder/genetic isolate) individuals(p-value = 3E-11 ;OR = 4.191). 0.4 New gene functions in megakaryopoiesis and platelet formation. NCRV0000002950 23934736 NONHSAT071625.2 rs13538 A N/A 1,260 african american individuals EFO_0005276 N/A Associate Metabolite levels (x-11787) rs13538-A of NONHSAT071625.2 is significantly associated with the metabolite levels (x-11787) by using GWAS analysis in 1,260 african american individuals(p-value = 2E-23 ;OR = 0.09). 0.4 Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study. NCRV0000002187 20686608 NONHSAT210149.1 rs9502893 G N/A 991 japanese ancestry cases//5,209 japanese ancestry controls EFO_0002618 N/A Associate Pancreatic cancer rs9502893-G of NONHSAT210149.1 is significantly associated with the pancreatic cancer by using GWAS analysis in 991 japanese ancestry cases//5,209 japanese ancestry controls(p-value = 3E-7 ;OR = 1.29). 0.4 Genome-wide association study of pancreatic cancer in Japanese population. NCRV0000003690 20081858 NONHSAT009449.2 rs340874 C N/A 46,186 european ancestry individuals; 76,558 european ancestry individuals EFO_0001360 N/A Associate Fasting blood glucose rs340874-C of NONHSAT009449.2 is significantly associated with the fasting blood glucose by using GWAS analysis in 46,186 european ancestry individuals; 76,558 european ancestry individuals(p-value = 7E-12 ;OR = 0.013). 0.4 New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. NCRV0000000328 28067908 NONHSAT067101.2 rs516246 ? N/A 25,042 european and unknown ancestry cases//34,915 european and unknown ancestry controls EFO_0003767 N/A Associate Inflammatory bowel disease rs516246-? of NONHSAT067101.2 is significantly associated with the inflammatory bowel disease by using GWAS analysis in 25,042 european and unknown ancestry cases//34,915 european and unknown ancestry controls(p-value = 5E-6 ;OR = ?). 0.4 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. NCRV0000001611 27989323 NONHSAT162640.1 rs193153193 G N/A 3,682 finnish ancestry individuals EFO_0005140 N/A Associate Stem cell growth factor beta levels rs193153193-G of NONHSAT162640.1 is significantly associated with the stem cell growth factor beta levels by using GWAS analysis in 3,682 finnish ancestry individuals(p-value = 6E-7 ;OR = 0.6392). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. NCRV0000001311 28468790 NONHSAT153630.1 rs1642645 ? N/A up to 439 european ancestry trios EFO_0005938 N/A Associate Left ventricular obstructive tract defect (maternal effect) rs1642645-? of NONHSAT153630.1 is significantly associated with the left ventricular obstructive tract defect (maternal effect) by using GWAS analysis in up to 439 european ancestry trios(p-value = 8E-7 ;OR = 1.8843181). 0.4 Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects. NCRV0000001876 23263486 NONHSAT209135.1 rs729761 T N/A 49,825 european ancestry males//60,522 european ancestry females; up to 32,813 european ancestry individuals EFO_0004531 N/A Associate Urate levels rs729761-T of NONHSAT209135.1 is significantly associated with the urate levels by using GWAS analysis in 49,825 european ancestry males//60,522 european ancestry females; up to 32,813 european ancestry individuals(p-value = 8E-16 ;OR = 0.047). 0.4 Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. NCRV0000001810 23720494 NONHSAT202792.1 rs921943 T N/A 5477 european ancestry individuals EFO_0005266 N/A Associate Blood trace element (se levels) rs921943-T of NONHSAT202792.1 is significantly associated with the blood trace element (se levels) by using GWAS analysis in 5477 european ancestry individuals(p-value = 9E-28 ;OR = 0.246). 0.4 Genome-wide association study identifies loci affecting blood copper, selenium and zinc. NCRV0000003083 26025128 NONHSAT188258.1 rs7599706 ? N/A 489 european ancestry children EFO_0007591 in asthma (oral corticosteroid dose interaction) Associate Bone mineral accretion rs7599706-? of NONHSAT188258.1 is significantly associated with the bone mineral accretion by using GWAS analysis in 489 european ancestry children(p-value = 4E-8 ;OR = ?). 0.4 Genetic risk factors for decreased bone mineral accretion in children with asthma receiving multiple oral corticosteroid bursts. NCRV0000001960 25676789 NONHSAT032211.2 rs114363471 ? N/A 1,607 european ancestry individuals//238 east asian individuals//84 african american individuals//85 hispanic individuals//13 individuals HP_0002149 allopurinol in gout Associate Serum uric acid levels in response to allopurinol in gout rs114363471-? of NONHSAT032211.2 is significantly associated with the serum uric acid levels in response to allopurinol in gout by using GWAS analysis in 1,607 european ancestry individuals//238 east asian individuals//84 african american individuals//85 hispanic individuals//13 individuals(p-value = 3E-6 ;OR = 1.5006). 0.4 Genome-wide association study identifies ABCG2 (BCRP) as an allopurinol transporter and a determinant of drug response. NCRV0000000788 28898252 NONHSAT206981.1 rs198846 G N/A 88,355 european ancestry individuals,18,472 east asian ancestry individuals//7,572 south asian ancestry individuals//7,564 african american individuals; 33,238 european ancestry individuals// 2,366 east asian ancestry individuals//1,302 south asian ancestry individuals EFO_0001360 N/A Associate Glycated hemoglobin levels rs198846-G of NONHSAT206981.1 is significantly associated with the glycated hemoglobin levels by using GWAS analysis in 88,355 european ancestry individuals,18,472 east asian ancestry individuals//7,572 south asian ancestry individuals//7,564 african american individuals; 33,238 european ancestry individuals// 2,366 east asian ancestry individuals//1,302 south asian ancestry individuals(p-value = 1E-23 ;OR = 0.0218). 0.4 Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis. NCRV0000000162 23251661 NONHSAT185364.1 rs4252023 A N/A 815 hispanic children from 263 families EFO_0004626 N/A Associate Obesity-related traits rs4252023-A of NONHSAT185364.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 2E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. NCRV0000003707 24586186 NONHSAT015897.2 rs17455577 C N/A 835 european ancestry individuals; 601 brazilian individuals EFO_0005116 N/A Associate Urinary metabolites (h-nmr features) rs17455577-C of NONHSAT015897.2 is significantly associated with the urinary metabolites (h-nmr features) by using GWAS analysis in 835 european ancestry individuals; 601 brazilian individuals(p-value = 3E-22 ;OR = 0.45). 0.4 Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links. NCRV0000001838 28753643 NONHSAT211128.1 rs149232047 G N/A 481 european ancestry cases HP_0002014 in darapladib-treated cardiovascular disease (time to event) Associate Diarrhoea in darapladib-treated cardiovascular disease (time to event) rs149232047-G of NONHSAT211128.1 is significantly associated with the diarrhoea in darapladib-treated cardiovascular disease (time to event) by using GWAS analysis in 481 european ancestry cases(p-value = 5E-9 ;OR = 4.9). 0.4 Pharmacogenetic meta-analysis of baseline risk factors, pharmacodynamic, efficacy and tolerability endpoints from two large global cardiovascular outcomes trials for darapladib. NCRV0000000109 26604143 NONHSAT153774.1 rs2590942 T N/A 34,744 european ancestry children; 11,313 european ancestry children EFO_0001073 N/A Associate Childhood body mass index rs2590942-T of NONHSAT153774.1 is significantly associated with the childhood body mass index by using GWAS analysis in 34,744 european ancestry children; 11,313 european ancestry children(p-value = 2E-7 ;OR = 0.047). 0.4 Genome-wide association analysis identifies three new susceptibility loci for childhood body mass index. NCRV0000001731 28468790 NONHSAT168760.1 rs11159840 ? N/A 247 european ancestry trios//70 non-european ancestry trios//192 european and other ancestry trios EFO_0005938 N/A Associate Left ventricular obstructive tract defect (inherited effect) rs11159840-? of NONHSAT168760.1 is significantly associated with the left ventricular obstructive tract defect (inherited effect) by using GWAS analysis in 247 european ancestry trios//70 non-european ancestry trios//192 european and other ancestry trios(p-value = 2E-6 ;OR = 1.6105342). 0.4 Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects. NCRV0000000150 24509480 NONHSAT199696.1 rs4458523 G N/A 12,171 european ancestry cases//56,862 european ancestry controls//6,952 east asian ancestry cases//11,865 east asian ancestry controls//5,561 south asian ancestry cases//14,458 south asian ancestry controls//1,804 mexican ancestry cases//779 mexican ancestry controls; 21,491 european ancestry cases//55,647 european ancestry controls EFO_0001360 N/A Associate Type 2 diabetes rs4458523-G of NONHSAT199696.1 is significantly associated with the type 2 diabetes by using GWAS analysis in 12,171 european ancestry cases//56,862 european ancestry controls//6,952 east asian ancestry cases//11,865 east asian ancestry controls//5,561 south asian ancestry cases//14,458 south asian ancestry controls//1,804 mexican ancestry cases//779 mexican ancestry controls; 21,491 european ancestry cases//55,647 european ancestry controls(p-value = 2E-9 ;OR = 1.09). 0.4 Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. NCRV0000002243 20662065 NONHSAT011111.2 rs1391511 ? N/A 116 european ancestry cases//3,351 european ancestry controls EFO_0004537 N/A Associate Neonatal lupus rs1391511-? of NONHSAT011111.2 is significantly associated with the neonatal lupus by using GWAS analysis in 116 european ancestry cases//3,351 european ancestry controls(p-value = 7E-6 ;OR = 1.84). 0.4 Identification of candidate loci at 6p21 and 21q22 in a genome-wide association study of cardiac manifestations of neonatal lupus. NCRV0000003815 28448500 NONHSAT036194.2 rs12885454 C N/A 2,518 african american women//86,278 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//55,137 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men EFO_0001073 joint analysis main effects and physical activity interaction Associate Body mass index rs12885454-C of NONHSAT036194.2 is significantly associated with the body mass index by using GWAS analysis in 2,518 african american women//86,278 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//55,137 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men(p-value = 2E-8 ;OR = 0.0219). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. NCRV0000001059 27082954 NONHSAT218718.1 rs1684978 ? N/A 104 european ancestry cases//1,519 european ancestry controls//34 african american cases//520 african american controls EFO_0004265 traffic-related air pollution interaction Associate Peripheral arterial disease (traffic-related air pollution interaction) rs1684978-? of NONHSAT218718.1 is significantly associated with the peripheral arterial disease (traffic-related air pollution interaction) by using GWAS analysis in 104 european ancestry cases//1,519 european ancestry controls//34 african american cases//520 african american controls(p-value = 6E-6 ;OR = 3.91). 0.4 Genetic Variants in the Bone Morphogenic Protein Gene Family Modify the Association between Residential Exposure to Traffic and Peripheral Arterial Disease. NCRV0000002081 23817569 NONHSAT207152.1 rs6457730 A N/A 53,862 european ancestry individuals EFO_0003785 N/A Associate Self-reported allergy rs6457730-A of NONHSAT207152.1 is significantly associated with the self-reported allergy by using GWAS analysis in 53,862 european ancestry individuals(p-value = 1E-6 ;OR = 0.275). 0.4 A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci. NCRV0000002792 25903422 NONHSAT148324.1 rs417065 A N/A 3,496 european ancestry cases//5,186 european ancestry controls//1,588 chinese ancestry cases//3,546 chinese ancestry controls; 5,134 european ancestry cases//5,633 european ancestry controls//5,151 chinese ancestry cases//5,152 chinese ancestry controls EFO_0000676 N/A Associate Psoriasis rs417065-A of NONHSAT148324.1 is significantly associated with the psoriasis by using GWAS analysis in 3,496 european ancestry cases//5,186 european ancestry controls//1,588 chinese ancestry cases//3,546 chinese ancestry controls; 5,134 european ancestry cases//5,633 european ancestry controls//5,151 chinese ancestry cases//5,152 chinese ancestry controls(p-value = 8E-7 ;OR = 1.17). 0.4 Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility. NCRV0000002095 27863252 NONHSAT205599.1 rs972761 C N/A 172,925 european ancestry individuals EFO_0004509 N/A Associate Hemoglobin concentration rs972761-C of NONHSAT205599.1 is significantly associated with the hemoglobin concentration by using GWAS analysis in 172,925 european ancestry individuals(p-value = 3E-12 ;OR = 0.02520453). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002249 24665060 NONHSAT166233.1 rs7327673 ? N/A 754 bangladeshi ancestry never smoker males//2,565 bangladeshi ancestry never smoker females//1,837 bangladeshi ancestry ever smoker males//198 bangladeshi ancestry ever smoker females EFO_0005670 N/A Associate Smoking initiation rs7327673-? of NONHSAT166233.1 is significantly associated with the smoking initiation by using GWAS analysis in 754 bangladeshi ancestry never smoker males//2,565 bangladeshi ancestry never smoker females//1,837 bangladeshi ancestry ever smoker males//198 bangladeshi ancestry ever smoker females(p-value = 4E-6 ;OR = ?). 0.4 Genome-wide association study of smoking behaviours among Bangladeshi adults. NCRV0000000629 19359265 NONHSAT177655.1 rs2162440 G N/A 1,625 european ancestry females; 1,165 european ancestry individuals EFO_0004505 N/A Associate Telomere length rs2162440-G of NONHSAT177655.1 is significantly associated with the telomere length by using GWAS analysis in 1,625 european ancestry females; 1,165 european ancestry individuals(p-value = 3E-6 ;OR = 106.0). 0.4 A genome-wide association study identifies a novel locus on chromosome 18q12.2 influencing white cell telomere length. NCRV0000002863 27989323 NONHSAT166259.1 rs816960 C N/A 3,685 finnish ancestry individuals EFO_0005140 N/A Associate Monokine induced by gamma interferon levels rs816960-C of NONHSAT166259.1 is significantly associated with the monokine induced by gamma interferon levels by using GWAS analysis in 3,685 finnish ancestry individuals(p-value = 5E-7 ;OR = 0.1224). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. NCRV0000003416 23251661 NONHSAT067101.2 rs516246 A N/A 815 hispanic children from 263 families EFO_0004620 N/A Associate Obesity-related traits rs516246-A of NONHSAT067101.2 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 2E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. NCRV0000001123 18758464 NONHSAT191834.1 rs2836878 ? N/A 1,011 european ancestry cases//4,250 european ancestry controls; 1,922 european ancestry cases//14,124 european ancestry controls EFO_0003767 N/A Associate Inflammatory bowel disease rs2836878-? of NONHSAT191834.1 is significantly associated with the inflammatory bowel disease by using GWAS analysis in 1,011 european ancestry cases//4,250 european ancestry controls; 1,922 european ancestry cases//14,124 european ancestry controls(p-value = 4E-12 ;OR = 1.41). 0.4 Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease. NCRV0000003772 28334899 NONHSAT194391.1 rs3762637 T N/A 32,285 east asian ancestry individuals//173,082 european ancestry individuals; 8,478 chinese ancestry individuals EFO_0000319 N/A Associate Ldl cholesterol levels rs3762637-T of NONHSAT194391.1 is significantly associated with the ldl cholesterol levels by using GWAS analysis in 32,285 east asian ancestry individuals//173,082 european ancestry individuals; 8,478 chinese ancestry individuals(p-value = 3E-8 ;OR = 0.0234). 0.4 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels. NCRV0000002530 20834067 NONHSAT214016.1 rs4732038 ? N/A 1,173 individuals EFO_0004300 N/A Associate Longevity rs4732038-? of NONHSAT214016.1 is significantly associated with the longevity by using GWAS analysis in 1,173 individuals(p-value = 1E-6 ;OR = ?). 0.4 Joint influence of small-effect genetic variants on human longevity. NCRV0000003503 20622881 NONHSAT130433.2 rs2383207 G N/A 1,292 european ancestry cases//30,503 european ancestry controls; 3,267 european ancestry cases//7,451 european ancestry controls EFO_0004214 N/A Associate Abdominal aortic aneurysm rs2383207-G of NONHSAT130433.2 is significantly associated with the abdominal aortic aneurysm by using GWAS analysis in 1,292 european ancestry cases//30,503 european ancestry controls; 3,267 european ancestry cases//7,451 european ancestry controls(p-value = 2E-8 ;OR = 1.27). 0.4 Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm. NCRV0000000187 28654678 NONHSAT162365.1 rs1161098 ? N/A 389 east asian ancestry individuals//189 south asian ancestry individuals//492 european ancestry individuals//467 sub-saharan african ancestry individuals//59 african american individuals//157 hispanic/latino individuals EFO_0000769 N/A Associate Epstein-barr virus copy number in lymphoblastoid cell lines rs1161098-? of NONHSAT162365.1 is significantly associated with the epstein-barr virus copy number in lymphoblastoid cell lines by using GWAS analysis in 389 east asian ancestry individuals//189 south asian ancestry individuals//492 european ancestry individuals//467 sub-saharan african ancestry individuals//59 african american individuals//157 hispanic/latino individuals(p-value = 5E-7 ;OR = ?). 0.4 Genetic factors affecting EBV copy number in lymphoblastoid cell lines derived from the 1000 Genome Project samples. NCRV0000000380 27863252 NONHSAT204675.1 rs3812049 G N/A 171,529 european ancestry individuals EFO_0005192 N/A Associate Red cell distribution width rs3812049-G of NONHSAT204675.1 is significantly associated with the red cell distribution width by using GWAS analysis in 171,529 european ancestry individuals(p-value = 5E-274 ;OR = 0.1432103). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003434 23535733 NONHSAT173881.1 rs3803662 T N/A 4,193 european ancestry cases//35,194 european ancestry controls; 6,514 european ancestry cases//41,455 european ancestry controls EFO_0000305 N/A Associate Breast cancer rs3803662-T of NONHSAT173881.1 is significantly associated with the breast cancer by using GWAS analysis in 4,193 european ancestry cases//35,194 european ancestry controls; 6,514 european ancestry cases//41,455 european ancestry controls(p-value = 6E-13 ;OR = 1.14). 0.4 Genome-wide association studies identify four ER negative-specific breast cancer risk loci. NCRV0000000605 19096518 NONHSAT120359.2 rs730497 A N/A 14,618 european ancestry females; 455 european ancestry individuals EFO_0001360 N/A Associate Glycated hemoglobin levels rs730497-A of NONHSAT120359.2 is significantly associated with the glycated hemoglobin levels by using GWAS analysis in 14,618 european ancestry females; 455 european ancestry individuals(p-value = 6E-12 ;OR = 0.03). 0.4 Novel association of HK1 with glycated hemoglobin in a non-diabetic population: a genome-wide evaluation of 14,618 participants in the Women's Genome Health Study. NCRV0000003415 23793025 NONHSAT015739.2 rs6583954 T N/A 23,285 european ancestry cases//95,425 european ancestry controls EFO_0003821 N/A Associate Migraine rs6583954-T of NONHSAT015739.2 is significantly associated with the migraine by using GWAS analysis in 23,285 european ancestry cases//95,425 european ancestry controls(p-value = 4E-6 ;OR = 1.08). 0.4 Genome-wide meta-analysis identifies new susceptibility loci for migraine. NCRV0000003401 27958378 NONHSAT194803.1 rs1478173 ? N/A 2,095 european ancestry exposed individuals//42,907 european ancestry unexposed individuals//1,167 african american exposed individuals//10,564 african american unexposed individuals//794 hispanic/latino american exposed individuals//14,330 hispanic/latino american unexposed individuals EFO_0007922 sulfonylurea treatment interaction Associate Jt interval (sulfonylurea treatment interaction) rs1478173-? of NONHSAT194803.1 is significantly associated with the jt interval (sulfonylurea treatment interaction) by using GWAS analysis in 2,095 european ancestry exposed individuals//42,907 european ancestry unexposed individuals//1,167 african american exposed individuals//10,564 african american unexposed individuals//794 hispanic/latino american exposed individuals//14,330 hispanic/latino american unexposed individuals(p-value = 1E-12 ;OR = 15.0). 0.4 Large-scale pharmacogenomic study of sulfonylureas and the QT, JT and QRS intervals: CHARGE Pharmacogenomics Working Group. NCRV0000000369 20018961 NONHSAT210400.1 rs602875 A N/A 706 han chinese ancestry cases//1,225 han chinese ancestry controls; 3,254 chinese ancestry cases//5,955 chinese ancestry controls EFO_0001054 N/A Associate Leprosy rs602875-A of NONHSAT210400.1 is significantly associated with the leprosy by using GWAS analysis in 706 han chinese ancestry cases//1,225 han chinese ancestry controls; 3,254 chinese ancestry cases//5,955 chinese ancestry controls(p-value = 5E-27 ;OR = 1.61). 0.4 Genomewide association study of leprosy. NCRV0000002396 25811787 NONHSAT118814.2 rs1045714 G N/A up to 5,529 european ancestry male individuals//up to 9,753 european ancestry female individuals EFO_0004531 N/A Associate Urate levels in lean individuals rs1045714-G of NONHSAT118814.2 is significantly associated with the urate levels in lean individuals by using GWAS analysis in up to 5,529 european ancestry male individuals//up to 9,753 european ancestry female individuals(p-value = 6E-6 ;OR = 0.081). 0.4 Modulation of genetic associations with serum urate levels by body-mass-index in humans. NCRV0000003619 20031603 NONHSAT198979.1 rs4318720 A N/A 2,325 european ancestry individuals EFO_0004278 N/A Associate Qt interval rs4318720-A of NONHSAT198979.1 is significantly associated with the qt interval by using GWAS analysis in 2,325 european ancestry individuals(p-value = 8E-7 ;OR = 0.28). 0.4 A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project. NCRV0000003482 24816252 NONHSAT071625.2 rs13538 A N/A up to 5,591 european ancestry individuals; up to 1,767 european ancestry individuals EFO_0005664 N/A Associate Blood metabolite levels rs13538-A of NONHSAT071625.2 is significantly associated with the blood metabolite levels by using GWAS analysis in up to 5,591 european ancestry individuals; up to 1,767 european ancestry individuals(p-value = 8E-157 ;OR = 0.119). 0.4 An atlas of genetic influences on human blood metabolites. NCRV0000001384 26503763 NONHSAT189136.1 rs73918339 C N/A 1,639 european ancestry responder cases//1,059 european ancestry non-responder cases EFO_0000289 N/A Associate Subjective response to lithium treatment in bipolar disorder rs73918339-C of NONHSAT189136.1 is significantly associated with the subjective response to lithium treatment in bipolar disorder by using GWAS analysis in 1,639 european ancestry responder cases//1,059 european ancestry non-responder cases(p-value = 4E-7 ;OR = 1.79). 0.4 Genome-wide association study identifies SESTD1 as a novel risk gene for lithium-responsive bipolar disorder. NCRV0000002549 23535033 NONHSAT104698.2 rs148763909 ? N/A 303 european ancestry cases; EFO_0000249 N/A Associate Alzheimer's disease (cognitive decline) rs148763909-? of NONHSAT104698.2 is significantly associated with the alzheimer's disease (cognitive decline) by using GWAS analysis in 303 european ancestry cases; (p-value = 1E-8 ;OR = 0.15). 0.4 Genome-wide association study of the rate of cognitive decline in Alzheimer's disease. NCRV0000000650 24816252 NONHSAT083439.2 rs4680 A N/A 7,824 european ancestry individuals EFO_0005664 N/A Associate Blood metabolite levels rs4680-A of NONHSAT083439.2 is significantly associated with the blood metabolite levels by using GWAS analysis in 7,824 european ancestry individuals(p-value = 1E-13 ;OR = 0.044). 0.4 An atlas of genetic influences on human blood metabolites. NCRV0000001392 21685187 NONHSAT166455.1 rs9506942 C N/A 1,907 european ancestry former smoker cases//1,164 european ancestry current smoker cases EFO_0004319 N/A Associate Smoking cessation in chronic obstructive pulmonary disease rs9506942-C of NONHSAT166455.1 is significantly associated with the smoking cessation in chronic obstructive pulmonary disease by using GWAS analysis in 1,907 european ancestry former smoker cases//1,164 european ancestry current smoker cases(p-value = 6E-6 ;OR = 1.29). 0.4 Genome-wide association study of smoking behaviours in patients with COPD. NCRV0000000617 27539887 NONHSAT195879.1 rs2116709 A N/A 12.945 european ancestry cases//274,252 european ancestry controls; 4,242 european ancestry cases//12,802 european ancestry controls EFO_0004193 N/A Associate Basal cell carcinoma rs2116709-A of NONHSAT195879.1 is significantly associated with the basal cell carcinoma by using GWAS analysis in 12.945 european ancestry cases//274,252 european ancestry controls; 4,242 european ancestry cases//12,802 european ancestry controls(p-value = 2E-17 ;OR = 1.1111112). 0.4 Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma. NCRV0000002704 28928442 NONHSAT008884.2 rs17177486 ? N/A 31,227 european ancestry cases//54,153 european ancestry controls EFO_0008404 N/A Associate Mumps rs17177486-? of NONHSAT008884.2 is significantly associated with the mumps by using GWAS analysis in 31,227 european ancestry cases//54,153 european ancestry controls(p-value = 9E-6 ;OR = 0.2187). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. NCRV0000002518 26830138 NONHSAT039566.2 rs150511909 T N/A 2,478 european ancestry cases//979 ancestry controls both from the same 1,070 families EFO_0000249 N/A Associate Alzheimer disease and age of onset rs150511909-T of NONHSAT039566.2 is significantly associated with the alzheimer disease and age of onset by using GWAS analysis in 2,478 european ancestry cases//979 ancestry controls both from the same 1,070 families(p-value = 4E-9 ;OR = 5.892). 0.4 Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3. NCRV0000003103 26198764 NONHSAT114476.2 rs6568685 A N/A 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls EFO_0000692 N/A Associate Schizophrenia rs6568685-A of NONHSAT114476.2 is significantly associated with the schizophrenia by using GWAS analysis in 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls(p-value = 7E-7 ;OR = 1.07). 0.4 Genome-wide association study of schizophrenia in Ashkenazi Jews. NCRV0000000243 26242244 NONHSAT103598.2 rs1533106 ? N/A 128 han chinese ancestry cases EFO_0007700 N/A Associate Exploratory eye movement dysfunction in schizophrenia (total eye scanning length) rs1533106-? of NONHSAT103598.2 is significantly associated with the exploratory eye movement dysfunction in schizophrenia (total eye scanning length) by using GWAS analysis in 128 han chinese ancestry cases(p-value = 3E-6 ;OR = 83.03). 0.4 Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia. NCRV0000001419 23251661 NONHSAT167261.1 rs641862 G N/A 815 hispanic children from 263 families EFO_0004626 N/A Associate Obesity-related traits rs641862-G of NONHSAT167261.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 7E-7 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. NCRV0000003281 22968431 NONHSAT088006.2 rs17036170 ? N/A 783 european ancestry cases//3,001 european ancestry controls; 307 european ancestry cases//2,587 european ancestry controls EFO_0004228 N/A Associate Drug-induced liver injury rs17036170-? of NONHSAT088006.2 is significantly associated with the drug-induced liver injury by using GWAS analysis in 783 european ancestry cases//3,001 european ancestry controls; 307 european ancestry cases//2,587 european ancestry controls(p-value = 2E-8 ;OR = 11.3). 0.4 Limited contribution of common genetic variants to risk for liver injury due to a variety of drugs. NCRV0000000041 18997786 NONHSAT218223.1 rs10958409 A N/A 1,580 european ancestry cases//6,276 european ancestry controls; 495 japanese ancestry cases//676 japanese ancestry controls EFO_0003870 N/A Associate Intracranial aneurysm rs10958409-A of NONHSAT218223.1 is significantly associated with the intracranial aneurysm by using GWAS analysis in 1,580 european ancestry cases//6,276 european ancestry controls; 495 japanese ancestry cases//676 japanese ancestry controls(p-value = 1E-10 ;OR = 1.36). 0.4 Susceptibility loci for intracranial aneurysm in European and Japanese populations. NCRV0000001184 19430479 NONHSAT189066.1 rs16982520 A N/A 29,136 european ancestry individuals; 34,433 european ancestry individuals EFO_0000537 N/A Associate Hypertension rs16982520-A of NONHSAT189066.1 is significantly associated with the hypertension by using GWAS analysis in 29,136 european ancestry individuals; 34,433 european ancestry individuals(p-value = 2E-7 ;OR = 0.13). 0.4 Genome-wide association study of blood pressure and hypertension. NCRV0000003027 28476931 NONHSAT067110.2 rs3760788 T N/A 509 pima indian ancestry individuals EFO_0001073 N/A Associate Resting metabolic rate rs3760788-T of NONHSAT067110.2 is significantly associated with the resting metabolic rate by using GWAS analysis in 509 pima indian ancestry individuals(p-value = 3E-6 ;OR = 61.29424). 0.4 A Genome-Wide Association Study Using a Custom Genotyping Array Identifies Variants in GPR158 Associated With Reduced Energy Expenditure in American Indians. NCRV0000002143 23259602 NONHSAT208059.1 rs9402592 ? N/A 1,483 european ancestry comparatively younger individuals//5,960 european ancestry comparatively older individuals EFO_0003819 N/A Associate Dental caries rs9402592-? of NONHSAT208059.1 is significantly associated with the dental caries by using GWAS analysis in 1,483 european ancestry comparatively younger individuals//5,960 european ancestry comparatively older individuals(p-value = 3E-6 ;OR = ?). 0.4 Genome-wide association scan of dental caries in the permanent dentition. NCRV0000000889 28598434 NONHSAT093252.2 rs234043 ? N/A 10,784 european ancestry cases//20,406 european ancestry controls; 3,182 european ancestry cases//6,301 european ancestry controls EFO_0000681 N/A Associate Renal cell carcinoma rs234043-? of NONHSAT093252.2 is significantly associated with the renal cell carcinoma by using GWAS analysis in 10,784 european ancestry cases//20,406 european ancestry controls; 3,182 european ancestry cases//6,301 european ancestry controls(p-value = 1E-7 ;OR = 1.0980564). 0.4 Genome-wide association study identifies multiple risk loci for renal cell carcinoma. NCRV0000002356 28754779 NONHSAT003115.2 rs80076962 ? N/A 1,959 european ancestry cases//1,488 european ancestry alcohol abuse controls//4,552 european ancestry controls EFO_1002013 N/A Associate Alcoholic chronic pancreatitis rs80076962-? of NONHSAT003115.2 is significantly associated with the alcoholic chronic pancreatitis by using GWAS analysis in 1,959 european ancestry cases//1,488 european ancestry alcohol abuse controls//4,552 european ancestry controls(p-value = 8E-6 ;OR = 1.815871). 0.4 Genome-wide association study identifies inversion in the CTRB1-CTRB2 locus to modify risk for alcoholic and non-alcoholic chronic pancreatitis. NCRV0000000211 19454037 NONHSAT205605.1 rs409045 ? N/A 101 european ancestry cases//101 european ancestry controls; 704 european ancestry individuals//1,467 african american individuals EFO_0003777 N/A Associate Left ventricular mass rs409045-? of NONHSAT205605.1 is significantly associated with the left ventricular mass by using GWAS analysis in 101 european ancestry cases//101 european ancestry controls; 704 european ancestry individuals//1,467 african american individuals(p-value = 8E-7 ;OR = 0.0101). 0.4 Genome-wide association study identifies single-nucleotide polymorphism in KCNB1 associated with left ventricular mass in humans: the HyperGEN Study. NCRV0000001398 22797727 NONHSAT173323.1 rs889472 C N/A 21,417 east asian ancestry individuals; 11,657 east asian ancestry individuals EFO_0003884 N/A Associate Renal function-related traits (urea) rs889472-C of NONHSAT173323.1 is significantly associated with the renal function-related traits (urea) by using GWAS analysis in 21,417 east asian ancestry individuals; 11,657 east asian ancestry individuals(p-value = 1E-9 ;OR = 0.0711). 0.4 Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations. NCRV0000000136 21784300 NONHSAT160406.1 rs1059440 ? N/A 341 adhd case offspring from 339 trios EFO_0003888 N/A Associate Attention deficit hyperactivity disorder rs1059440-? of NONHSAT160406.1 is significantly associated with the attention deficit hyperactivity disorder by using GWAS analysis in 341 adhd case offspring from 339 trios(p-value = 4E-6 ;OR = ?). 0.4 Genome-wide association study of the child behavior checklist dysregulation profile. NCRV0000003159 26634245 NONHSAT199171.1 rs17766168 A N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs17766168-A of NONHSAT199171.1 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 3E-8 ;OR = 0.056). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000001618 28928442 NONHSAT173128.1 rs77803191 ? N/A 52,218 european ancestry cases//10,235 european ancestry controls EFO_0008412 N/A Associate Yeast infection rs77803191-? of NONHSAT173128.1 is significantly associated with the yeast infection by using GWAS analysis in 52,218 european ancestry cases//10,235 european ancestry controls(p-value = 3E-6 ;OR = 0.1497). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. NCRV0000003295 21106707 NONHSAT177882.1 rs8093763 A N/A 673 european ancestry individuals; 834 european ancestry individuals EFO_0007592 N/A Associate Response to bleomycin (chromatid breaks) rs8093763-A of NONHSAT177882.1 is significantly associated with the response to bleomycin (chromatid breaks) by using GWAS analysis in 673 european ancestry individuals; 834 european ancestry individuals(p-value = 3E-8 ;OR = 0.18). 0.4 A genetic variant near the PMAIP1/Noxa gene is associated with increased bleomycin sensitivity. NCRV0000003981 26301688 NONHSAT195744.1 rs4625 G N/A 97 european ancestry thyroiditis cases//107 european ancestry ankylosing spondylitis cases//100 european ancestry psoriasis cases//173 european ancestry celiac disease cases//254 european ancestry systemic lupus erythematosus cases//308 european ancestry common variable inmunodeficiency cases//865 european ancestry ulcerative colitis cases//1,086 european ancestry type 1 diabetes cases//1,123 european ancestry juvenile idiopathic arthritis cases//1,922 european ancestry crohn's disease cases//10,718 european ancestry controls EFO_0000540 N/A Associate Pediatric autoimmune diseases rs4625-G of NONHSAT195744.1 is significantly associated with the pediatric autoimmune diseases by using GWAS analysis in 97 european ancestry thyroiditis cases//107 european ancestry ankylosing spondylitis cases//100 european ancestry psoriasis cases//173 european ancestry celiac disease cases//254 european ancestry systemic lupus erythematosus cases//308 european ancestry common variable inmunodeficiency cases//865 european ancestry ulcerative colitis cases//1,086 european ancestry type 1 diabetes cases//1,123 european ancestry juvenile idiopathic arthritis cases//1,922 european ancestry crohn's disease cases//10,718 european ancestry controls(p-value = 8E-11 ;OR = ?). 0.4 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases. NCRV0000003751 26969751 NONHSAT220447.1 rs872256 ? N/A 5,008 european ancestry prepubescent females//5,082 european ancestry prepubescent males//4,238 european ancestry pubescent females//4,185 european ancestry pubescent males//2,680 european ancestry post-pubescent females//2,496 european ancestry post-pubescent males EFO_0000319 N/A Associate Systolic blood pressure rs872256-? of NONHSAT220447.1 is significantly associated with the systolic blood pressure by using GWAS analysis in 5,008 european ancestry prepubescent females//5,082 european ancestry prepubescent males//4,238 european ancestry pubescent females//4,185 european ancestry pubescent males//2,680 european ancestry post-pubescent females//2,496 european ancestry post-pubescent males(p-value = 9E-9 ;OR = 0.096). 0.4 International Genome-Wide Association Study Consortium Identifies Novel Loci Associated With Blood Pressure in Children and Adolescents. NCRV0000000204 28067908 NONHSAT216433.1 rs6651252 ? N/A 25,042 european and unknown ancestry cases//34,915 european and unknown ancestry controls EFO_0003767 N/A Associate Inflammatory bowel disease rs6651252-? of NONHSAT216433.1 is significantly associated with the inflammatory bowel disease by using GWAS analysis in 25,042 european and unknown ancestry cases//34,915 european and unknown ancestry controls(p-value = 6E-7 ;OR = ?). 0.4 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. NCRV0000000810 24927181 NONHSAT150544.1 rs1159268 A N/A 1,893 european ancestry cases//5,132 european ancestry controls; 2,063 european ancestry cases//1,970 european ancestry controls EFO_0003894 N/A Associate Acne (severe) rs1159268-A of NONHSAT150544.1 is significantly associated with the acne (severe) by using GWAS analysis in 1,893 european ancestry cases//5,132 european ancestry controls; 2,063 european ancestry cases//1,970 european ancestry controls(p-value = 4E-8 ;OR = 1.17). 0.4 Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. NCRV0000002105 21160409 NONHSAT178511.1 rs12604483 ? N/A 531 sub-saharan african ancestry cases//848 sub-saharan african ancestry controls EFO_0000180 N/A Associate Hiv-1 susceptibility rs12604483-? of NONHSAT178511.1 is significantly associated with the hiv-1 susceptibility by using GWAS analysis in 531 sub-saharan african ancestry cases//848 sub-saharan african ancestry controls(p-value = 7E-6 ;OR = ?). 0.4 Common human genetic variants and HIV-1 susceptibility: a genome-wide survey in a homogeneous African population. NCRV0000001169 28334935 NONHSAT176601.1 rs73373322 C N/A 12,580 hispanic/latino individuals EFO_0006332 N/A Associate Iron status biomarkers (iron levels) rs73373322-C of NONHSAT176601.1 is significantly associated with the iron status biomarkers (iron levels) by using GWAS analysis in 12,580 hispanic/latino individuals(p-value = 4E-7 ;OR = 0.304). 0.4 Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation? NCRV0000003899 28334935 NONHSAT176601.1 rs73373322 C N/A 12,589 hispanic/latino individuals EFO_0006333 N/A Associate Iron status biomarkers (transferrin saturation) rs73373322-C of NONHSAT176601.1 is significantly associated with the iron status biomarkers (transferrin saturation) by using GWAS analysis in 12,589 hispanic/latino individuals(p-value = 4E-7 ;OR = 0.185). 0.4 Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation? NCRV0000000076 23326517 NONHSAT158562.1 rs3793917 ? N/A 3,772 european ancestry cases//16,033 european ancestry controls; 264 asian ancestry cases//3,926 asian ancestry controls EFO_0001365 N/A Associate Age-related macular degeneration rs3793917-? of NONHSAT158562.1 is significantly associated with the age-related macular degeneration by using GWAS analysis in 3,772 european ancestry cases//16,033 european ancestry controls; 264 asian ancestry cases//3,926 asian ancestry controls(p-value = 4E-24 ;OR = 1.45). 0.4 Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis. NCRV0000001617 24324551 NONHSAT160485.1 rs78972067 ? N/A 580 brazilian ancestry individuals EFO_0005529 N/A Associate Pr interval in tripanosoma cruzi seropositivity rs78972067-? of NONHSAT160485.1 is significantly associated with the pr interval in tripanosoma cruzi seropositivity by using GWAS analysis in 580 brazilian ancestry individuals(p-value = 8E-6 ;OR = ?). 0.4 Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects. NCRV0000000659 26634245 NONHSAT101318.2 rs79942555 T N/A 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio in copd rs79942555-T of NONHSAT101318.2 is significantly associated with the post bronchodilator fev1/fvc ratio in copd by using GWAS analysis in 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases(p-value = 2E-6 ;OR = 0.075). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000000102 28199695 NONHSAT060713.2 rs778798 C N/A 69,057 european ancestry individuals without immune related conditions EFO_0008377 N/A Associate Itch intensity from mosquito bite adjusted by bite size rs778798-C of NONHSAT060713.2 is significantly associated with the itch intensity from mosquito bite adjusted by bite size by using GWAS analysis in 69,057 european ancestry individuals without immune related conditions(p-value = 5E-8 ;OR = 0.0215724). 0.4 GWAS of self-reported mosquito bite size, itch intensity and attractiveness to mosquitoes implicates immune-related predisposition loci. NCRV0000000704 28199695 NONHSAT060713.2 rs778798 C N/A 84,724 european ancestry individuals EFO_0008378 N/A Associate Mosquito bite size rs778798-C of NONHSAT060713.2 is significantly associated with the mosquito bite size by using GWAS analysis in 84,724 european ancestry individuals(p-value = 3E-6 ;OR = 0.0279609). 0.4 GWAS of self-reported mosquito bite size, itch intensity and attractiveness to mosquitoes implicates immune-related predisposition loci. NCRV0000001223 27863252 NONHSAT173445.1 rs12447180 C N/A 171,846 european ancestry individuals EFO_0005090 N/A Associate White blood cell count (basophil) rs12447180-C of NONHSAT173445.1 is significantly associated with the white blood cell count (basophil) by using GWAS analysis in 171,846 european ancestry individuals(p-value = 5E-18 ;OR = 0.03246716). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002503 24529757 NONHSAT181534.1 rs10495822 ? N/A 250 han chinese ancestry cases//250 han chinese ancestry controls EFO_0001357 N/A Associate Amyotrophic lateral sclerosis (sporadic) rs10495822-? of NONHSAT181534.1 is significantly associated with the amyotrophic lateral sclerosis (sporadic) by using GWAS analysis in 250 han chinese ancestry cases//250 han chinese ancestry controls(p-value = 8E-6 ;OR = ?). 0.4 Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations. NCRV0000001045 27863252 NONHSAT197521.1 rs4328821 G N/A 171,542 european ancestry individuals EFO_0007990 N/A Associate Neutrophil percentage of white cells rs4328821-G of NONHSAT197521.1 is significantly associated with the neutrophil percentage of white cells by using GWAS analysis in 171,542 european ancestry individuals(p-value = 5E-50 ;OR = 0.08527041). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001334 25866641 NONHSAT170348.1 rs17280262 ? N/A 334 european ancestry cases EFO_0005842 N/A Associate Survival in colon cancer rs17280262-? of NONHSAT170348.1 is significantly associated with the survival in colon cancer by using GWAS analysis in 334 european ancestry cases(p-value = 1E-7 ;OR = 3.02). 0.4 A genome wide association study on Newfoundland colorectal cancer patients' survival outcomes. NCRV0000001493 21738487 NONHSAT146109.2 rs11868035 G N/A 3,426 european ancestry cases//29,624 european ancestry controls EFO_0002508 N/A Associate Parkinson's disease rs11868035-G of NONHSAT146109.2 is significantly associated with the parkinson's disease by using GWAS analysis in 3,426 european ancestry cases//29,624 european ancestry controls(p-value = 6E-8 ;OR = 1.18). 0.4 Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease. NCRV0000000159 28604730 NONHSAT203751.1 rs12517665 A N/A 29,266 european ancestry cases//56,450 european ancestry controls EFO_0001071 N/A Associate Lung cancer rs12517665-A of NONHSAT203751.1 is significantly associated with the lung cancer by using GWAS analysis in 29,266 european ancestry cases//56,450 european ancestry controls(p-value = 8E-6 ;OR = 1.0714158). 0.4 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. NCRV0000003493 27863252 NONHSAT197521.1 rs4328821 G N/A 172,378 european ancestry individuals EFO_0007991 N/A Associate Eosinophil percentage of white cells rs4328821-G of NONHSAT197521.1 is significantly associated with the eosinophil percentage of white cells by using GWAS analysis in 172,378 european ancestry individuals(p-value = 2E-145 ;OR = 0.147194). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001894 27863252 NONHSAT197521.1 rs4328821 G N/A 170,672 european ancestry individuals EFO_0007994 N/A Associate Neutrophil percentage of granulocytes rs4328821-G of NONHSAT197521.1 is significantly associated with the neutrophil percentage of granulocytes by using GWAS analysis in 170,672 european ancestry individuals(p-value = 2E-184 ;OR = 0.1665542). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002742 24816252 NONHSAT212075.1 rs7809234 A N/A up to 5,591 european ancestry individuals; up to 1,767 european ancestry individuals EFO_0005664 N/A Associate Blood metabolite ratios rs7809234-A of NONHSAT212075.1 is significantly associated with the blood metabolite ratios by using GWAS analysis in up to 5,591 european ancestry individuals; up to 1,767 european ancestry individuals(p-value = 6E-14 ;OR = 0.049). 0.4 An atlas of genetic influences on human blood metabolites. NCRV0000002569 23753411 NONHSAT080606.2 rs2273359 C N/A 424 european ancestry individuals; 841 european ancestry individuals GO_0036270 N/A Associate Response to diuretic therapy in hypertension rs2273359-C of NONHSAT080606.2 is significantly associated with the response to diuretic therapy in hypertension by using GWAS analysis in 424 european ancestry individuals; 841 european ancestry individuals(p-value = 6E-8 ;OR = 8.15). 0.4 Genomic association analysis of common variants influencing antihypertensive response to hydrochlorothiazide. NCRV0000002560 27863252 NONHSAT197521.1 rs4328821 G N/A 170,536 european ancestry individuals EFO_0007996 N/A Associate Eosinophil percentage of granulocytes rs4328821-G of NONHSAT197521.1 is significantly associated with the eosinophil percentage of granulocytes by using GWAS analysis in 170,536 european ancestry individuals(p-value = 6E-153 ;OR = 0.1515107). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002932 21102463 NONHSAT191891.1 rs2838519 G N/A 6,333 european ancestry cases//15,056 european ancestry controls; 15,694 european ancestry cases//14,026 european ancestry controls//414 european ancestry trios EFO_0000384 N/A Associate Crohn's disease rs2838519-G of NONHSAT191891.1 is significantly associated with the crohn's disease by using GWAS analysis in 6,333 european ancestry cases//15,056 european ancestry controls; 15,694 european ancestry cases//14,026 european ancestry controls//414 european ancestry trios(p-value = 2E-14 ;OR = 1.18). 0.4 Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. NCRV0000000029 23251661 NONHSAT218590.1 rs2640806 A N/A 815 hispanic children from 263 families EFO_0005134 N/A Associate Obesity-related traits rs2640806-A of NONHSAT218590.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 5E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. NCRV0000002496 29059683 NONHSAT039747.2 rs2295389 G N/A 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls EFO_0000305 N/A Associate Breast cancer rs2295389-G of NONHSAT039747.2 is significantly associated with the breast cancer by using GWAS analysis in 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls(p-value = 2E-6 ;OR = 0.0345). 0.4 Association analysis identifies 65 new breast cancer risk loci. NCRV0000003875 27863252 NONHSAT200257.1 rs7679673 A N/A 170,384 european ancestry individuals EFO_0009390 N/A Associate Sum neutrophil eosinophil counts rs7679673-A of NONHSAT200257.1 is significantly associated with the sum neutrophil eosinophil counts by using GWAS analysis in 170,384 european ancestry individuals(p-value = 2E-10 ;OR = 0.02349569). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000411 28346443 NONHSAT086659.2 rs2235573 G N/A 12,469 european ancestry cases//18,190 european ancestry controls. EFO_0005543 N/A Associate Glioma rs2235573-G of NONHSAT086659.2 is significantly associated with the glioma by using GWAS analysis in 12,469 european ancestry cases//18,190 european ancestry controls.(p-value = 9E-7 ;OR = 1.09). 0.4 Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors. NCRV0000003609 27863252 NONHSAT206639.1 rs34978289 CT N/A 170,548 european ancestry individuals EFO_0007986 N/A Associate Immature fraction of reticulocytes rs34978289-CT of NONHSAT206639.1 is significantly associated with the immature fraction of reticulocytes by using GWAS analysis in 170,548 european ancestry individuals(p-value = 6E-9 ;OR = 0.02070095). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002544 20639880 NONHSAT207123.1 rs7774434 C N/A 453 european ancestry cases//945 european ancestry controls,; 481 european ancestry cases//3,706 european ancestry controls EFO_0004267 N/A Associate Primary biliary cholangitis rs7774434-C of NONHSAT207123.1 is significantly associated with the primary biliary cholangitis by using GWAS analysis in 453 european ancestry cases//945 european ancestry controls,; 481 european ancestry cases//3,706 european ancestry controls(p-value = 3E-26 ;OR = 1.75). 0.4 Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis. NCRV0000003540 27182965 NONHSAT183166.1 rs17400325 ? N/A 106,086 european ancestry cases//85,757 european ancestry controls HP_0000545 N/A Associate Myopia rs17400325-? of NONHSAT183166.1 is significantly associated with the myopia by using GWAS analysis in 106,086 european ancestry cases//85,757 european ancestry controls(p-value = 1E-20 ;OR = 1.1848341). 0.4 Detection and interpretation of shared genetic influences on 42 human traits. NCRV0000002911 21909108 NONHSAT195850.1 rs17045031 A N/A up to 31,211 european ancestry individuals; 10,553 european ancestry individuals//687 orcadian individuals EFO_0003914 N/A Associate Carotid intima media thickness rs17045031-A of NONHSAT195850.1 is significantly associated with the carotid intima media thickness by using GWAS analysis in up to 31,211 european ancestry individuals; 10,553 european ancestry individuals//687 orcadian individuals(p-value = 4E-7 ;OR = 0.2986). 0.4 Meta-analysis of genome-wide association studies from the CHARGE consortium identifies common variants associated with carotid intima media thickness and plaque. NCRV0000002492 19734545 NONHSAT018916.2 rs10501293 ? N/A up to 1,295 individuals EFO_0003926 N/A Associate Cognitive performance rs10501293-? of NONHSAT018916.2 is significantly associated with the cognitive performance by using GWAS analysis in up to 1,295 individuals(p-value = 5E-6 ;OR = ?). 0.4 A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB. NCRV0000002121 24824216 NONHSAT144993.2 rs9895098 C N/A 1,052 european ancestry male cases//1,019 european ancestry female cases//709 european ancestry male controls//826 european ancestry female controls//675 african american/african caribbean male cases//837 african american/african caribbean female cases//577 african american/african caribbean male controls//926 african american/african caribbean female controls//926 latino male cases//710 latino female cases//410 latino male controls//382 latino female controls EFO_0000270 N/A Associate Asthma (sex interaction) rs9895098-C of NONHSAT144993.2 is significantly associated with the asthma (sex interaction) by using GWAS analysis in 1,052 european ancestry male cases//1,019 european ancestry female cases//709 european ancestry male controls//826 european ancestry female controls//675 african american/african caribbean male cases//837 african american/african caribbean female cases//577 african american/african caribbean male controls//926 african american/african caribbean female controls//926 latino male cases//710 latino female cases//410 latino male controls//382 latino female controls(p-value = 3E-7 ;OR = 2.31). 0.4 Genome-wide interaction studies reveal sex-specific asthma risk alleles. NCRV0000003296 27182965 NONHSAT200063.1 rs7659874 ? N/A 33,790 european ancestry individuals EFO_0004884 N/A Associate Breast size rs7659874-? of NONHSAT200063.1 is significantly associated with the breast size by using GWAS analysis in 33,790 european ancestry individuals(p-value = 9E-13 ;OR = 0.105). 0.4 Detection and interpretation of shared genetic influences on 42 human traits. NCRV0000003071 25760438 NONHSAT167653.1 rs11454281 ? N/A 89 martu australian aboriginal ancestry cases//302 martu australian aboriginal ancestry controls EFO_0001360 N/A Associate Type 2 diabetes rs11454281-? of NONHSAT167653.1 is significantly associated with the type 2 diabetes by using GWAS analysis in 89 martu australian aboriginal ancestry cases//302 martu australian aboriginal ancestry controls(p-value = 9E-6 ;OR = 0.6). 0.4 First genome-wide association study in an Australian aboriginal population provides insights into genetic risk factors for body mass index and type 2 diabetes. NCRV0000001445 23251661 NONHSAT206072.1 rs17668565 G N/A 815 hispanic children from 263 families EFO_0005106 N/A Associate Obesity-related traits rs17668565-G of NONHSAT206072.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 2E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. NCRV0000001860 28240269 NONHSAT189492.1 rs2424590 ? N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0004617 N/A Associate Blood protein levels rs2424590-? of NONHSAT189492.1 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 4E-13 ;OR = ?). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. NCRV0000001667 27863252 NONHSAT105211.2 rs2594836 A N/A 172,435 european ancestry individuals EFO_0004308 N/A Associate White blood cell count rs2594836-A of NONHSAT105211.2 is significantly associated with the white blood cell count by using GWAS analysis in 172,435 european ancestry individuals(p-value = 1E-25 ;OR = 0.0425945). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000329 27149984 NONHSAT151255.1 rs9426691 G N/A up to 1,300 european ancestry individuals EFO_0007836 N/A Associate Coenzyme q10 levels rs9426691-G of NONHSAT151255.1 is significantly associated with the coenzyme q10 levels by using GWAS analysis in up to 1,300 european ancestry individuals(p-value = 4E-6 ;OR = 0.032). 0.4 Genome-wide association study of serum coenzyme Q10 levels identifies susceptibility loci linked to neuronal diseases. NCRV0000001391 27863252 NONHSAT176180.1 rs4795419 A N/A 170,494 european ancestry individuals EFO_0007989 N/A Associate Monocyte percentage of white cells rs4795419-A of NONHSAT176180.1 is significantly associated with the monocyte percentage of white cells by using GWAS analysis in 170,494 european ancestry individuals(p-value = 5E-81 ;OR = 0.0693653). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000133 28754779 NONHSAT224107.1 rs4826965 ? N/A 1,959 european ancestry cases//1,488 european ancestry alcohol abuse controls//4,552 european ancestry controls EFO_1002013 N/A Associate Alcoholic chronic pancreatitis rs4826965-? of NONHSAT224107.1 is significantly associated with the alcoholic chronic pancreatitis by using GWAS analysis in 1,959 european ancestry cases//1,488 european ancestry alcohol abuse controls//4,552 european ancestry controls(p-value = 2E-7 ;OR = 1.6855829). 0.4 Genome-wide association study identifies inversion in the CTRB1-CTRB2 locus to modify risk for alcoholic and non-alcoholic chronic pancreatitis. NCRV0000001107 27863252 NONHSAT076985.2 rs62191825 C N/A 170,721 european ancestry individuals EFO_0005091 N/A Associate Monocyte count rs62191825-C of NONHSAT076985.2 is significantly associated with the monocyte count by using GWAS analysis in 170,721 european ancestry individuals(p-value = 5E-11 ;OR = 0.02473969). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000711 26830138 NONHSAT184066.1 rs148822902 C N/A 2,478 european ancestry cases//979 ancestry controls both from the same 1,070 families EFO_0000249 N/A Associate Alzheimer disease and age of onset rs148822902-C of NONHSAT184066.1 is significantly associated with the alzheimer disease and age of onset by using GWAS analysis in 2,478 european ancestry cases//979 ancestry controls both from the same 1,070 families(p-value = 1E-6 ;OR = 4.901). 0.4 Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3. NCRV0000001102 20195514 NONHSAT188016.1 rs6435957 T N/A 5,752 european ancestry related individuals GO_0042476 N/A Associate Primary tooth development (number of teeth) rs6435957-T of NONHSAT188016.1 is significantly associated with the primary tooth development (number of teeth) by using GWAS analysis in 5,752 european ancestry related individuals(p-value = 4E-7 ;OR = ?). 0.4 Genome-wide association study reveals multiple loci associated with primary tooth development during infancy. NCRV0000002162 23770605 NONHSAT129023.2 rs2466035 C N/A 2,179 european ancestry cases//6,221 european ancestry controls; 1,709 european ancestry cases//6,318 european ancestry controls EFO_0000095 N/A Associate Chronic lymphocytic leukemia rs2466035-C of NONHSAT129023.2 is significantly associated with the chronic lymphocytic leukemia by using GWAS analysis in 2,179 european ancestry cases//6,221 european ancestry controls; 1,709 european ancestry cases//6,318 european ancestry controls(p-value = 2E-8 ;OR = 1.21). 0.4 Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia. NCRV0000001512 22267201 NONHSAT151469.1 rs4246511 T N/A 38,968 european ancestry female individuals; up to 14,435 european ancestry female individuals EFO_0004704 N/A Associate Menopause (age at onset) rs4246511-T of NONHSAT151469.1 is significantly associated with the menopause (age at onset) by using GWAS analysis in 38,968 european ancestry female individuals; up to 14,435 european ancestry female individuals(p-value = 9E-17 ;OR = 0.24). 0.4 Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. NCRV0000002696 27182965 NONHSAT159357.1 rs72931768 ? N/A 46,936 european ancestry cases//74,874 european ancestry controls EFO_0007904 N/A Associate Childhood ear infection rs72931768-? of NONHSAT159357.1 is significantly associated with the childhood ear infection by using GWAS analysis in 46,936 european ancestry cases//74,874 european ancestry controls(p-value = 3E-9 ;OR = 1.086). 0.4 Detection and interpretation of shared genetic influences on 42 human traits. NCRV0000002377 29059683 NONHSAT155559.1 rs35419901 T N/A 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls EFO_0000305 N/A Associate Breast cancer rs35419901-T of NONHSAT155559.1 is significantly associated with the breast cancer by using GWAS analysis in 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls(p-value = 8E-11 ;OR = 0.1123). 0.4 Association analysis identifies 65 new breast cancer risk loci. NCRV0000001323 27863252 NONHSAT173451.1 rs2968478 G N/A 172,925 european ancestry individuals EFO_0004509 N/A Associate Hemoglobin concentration rs2968478-G of NONHSAT173451.1 is significantly associated with the hemoglobin concentration by using GWAS analysis in 172,925 european ancestry individuals(p-value = 5E-44 ;OR = 0.0510282). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003597 28165464 NONHSAT129023.2 rs2466029 G N/A 4,478 european ancestry cases and 13,213 european ancestry controls.; 1,722 european ancestry cases and 4,385 european ancestry controls. EFO_0000095 N/A Associate Chronic lymphocytic leukemia rs2466029-G of NONHSAT129023.2 is significantly associated with the chronic lymphocytic leukemia by using GWAS analysis in 4,478 european ancestry cases and 13,213 european ancestry controls.; 1,722 european ancestry cases and 4,385 european ancestry controls.(p-value = 7E-16 ;OR = 1.23). 0.4 Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia. NCRV0000003860 27723756 NONHSAT172811.1 rs12149695 A N/A 1,812 european ancestry individuals EFO_0007874 bacterial taxa Associate Gut microbiota (bacterial taxa) rs12149695-A of NONHSAT172811.1 is significantly associated with the gut microbiota (bacterial taxa) by using GWAS analysis in 1,812 european ancestry individuals(p-value = 2E-9 ;OR = 0.61). 0.4 Genome-wide association analysis identifies variation in vitamin D receptor and other host factors influencing the gut microbiota. NCRV0000001565 24483146 NONHSAT124878.2 rs4272382 ? N/A 60 european ancestry lymphoblastoid cell lines//54 african american lymphoblastoid cell lines//60 han chinese ancestry lymphoblastoid cell lines GO_0036272 N/A Associate Response to cytidine analogues (gemcitabine) rs4272382-? of NONHSAT124878.2 is significantly associated with the response to cytidine analogues (gemcitabine) by using GWAS analysis in 60 european ancestry lymphoblastoid cell lines//54 african american lymphoblastoid cell lines//60 han chinese ancestry lymphoblastoid cell lines(p-value = 2E-6 ;OR = ?). 0.4 Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines. NCRV0000000790 25188341 NONHSAT172679.1 rs11075138 G N/A 1,673 cases//1,134 controls EFO_0000249 N/A Associate Cerebral amyloid angiopathy rs11075138-G of NONHSAT172679.1 is significantly associated with the cerebral amyloid angiopathy by using GWAS analysis in 1,673 cases//1,134 controls(p-value = 8E-6 ;OR = 0.5115). 0.4 Genome-wide association meta-analysis of neuropathologic features of Alzheimer's disease and related dementias. NCRV0000003237 28067908 NONHSAT210327.1 rs71559680 ? N/A 12,194 european and unknown ancestry cases//28,072 european and unknown ancestry controls EFO_0000384 N/A Associate Crohn's disease rs71559680-? of NONHSAT210327.1 is significantly associated with the crohn's disease by using GWAS analysis in 12,194 european and unknown ancestry cases//28,072 european and unknown ancestry controls(p-value = 2E-8 ;OR = ?). 0.4 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. NCRV0000002580 21946350 NONHSAT172351.1 rs2036527 G N/A 48,201 european ancestry individuals; 46,411 european ancestry individuals EFO_0003892 N/A Associate Pulmonary function rs2036527-G of NONHSAT172351.1 is significantly associated with the pulmonary function by using GWAS analysis in 48,201 european ancestry individuals; 46,411 european ancestry individuals(p-value = 7E-7 ;OR = 0.026). 0.4 Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function. NCRV0000003690 22581228 NONHSAT009449.2 rs340874 T N/A up to 58,074 european ancestry individuals; up tp 38,422 european ancestry individuals EFO_0001360 N/A Associate Fasting blood glucose rs340874-T of NONHSAT009449.2 is significantly associated with the fasting blood glucose by using GWAS analysis in up to 58,074 european ancestry individuals; up tp 38,422 european ancestry individuals(p-value = 9E-7 ;OR = 0.0159). 0.4 A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance. NCRV0000002699 28090653 NONHSAT150264.1 rs145744152 C N/A up to 488 european ancestry cases//up to 111 african american cases//up to 60 hispanic cases//up to 56 other ancestry cases EFO_0000220 N/A Associate Alanine aminotransferase (alt) levels after remission induction therapy in actute lymphoblastic leukemia (all) rs145744152-C of NONHSAT150264.1 is significantly associated with the alanine aminotransferase (alt) levels after remission induction therapy in actute lymphoblastic leukemia (all) by using GWAS analysis in up to 488 european ancestry cases//up to 111 african american cases//up to 60 hispanic cases//up to 56 other ancestry cases(p-value = 9E-6 ;OR = 2.75). 0.4 Genome-Wide Study Links PNPLA3 Variant With Elevated Hepatic Transaminase After Acute Lymphoblastic Leukemia Therapy. NCRV0000001417 27863252 NONHSAT103742.2 rs10058074 A N/A 166,066 european ancestry individuals EFO_0004309 N/A Associate Platelet count rs10058074-A of NONHSAT103742.2 is significantly associated with the platelet count by using GWAS analysis in 166,066 european ancestry individuals(p-value = 3E-18 ;OR = 0.03170327). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002635 27863252 NONHSAT197523.1 rs6782228 C N/A 170,384 european ancestry individuals EFO_0009390 N/A Associate Sum neutrophil eosinophil counts rs6782228-C of NONHSAT197523.1 is significantly associated with the sum neutrophil eosinophil counts by using GWAS analysis in 170,384 european ancestry individuals(p-value = 9E-15 ;OR = 0.03159961). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003277 25778476 NONHSAT209123.1 rs1129187 T N/A 10,352 cases//9,207 controls; 1,250 european ancestry cases//536 european ancestry controls EFO_0000249 N/A Associate Alzheimer's disease in apoe e4+ carriers rs1129187-T of NONHSAT209123.1 is significantly associated with the alzheimer's disease in apoe e4+ carriers by using GWAS analysis in 10,352 cases//9,207 controls; 1,250 european ancestry cases//536 european ancestry controls(p-value = 7E-6 ;OR = 1.13). 0.4 A novel Alzheimer disease locus located near the gene encoding tau protein. NCRV0000002680 26634245 NONHSAT142904.2 rs150896862 T N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs150896862-T of NONHSAT142904.2 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 1E-7 ;OR = 0.381). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000002610 28334899 NONHSAT107886.2 rs3757354 T N/A 32,576 east asian ancestry individuals//187,365 european ancestry individuals; 10,855 chinese ancestry individuals EFO_0000319 N/A Associate Total cholesterol levels rs3757354-T of NONHSAT107886.2 is significantly associated with the total cholesterol levels by using GWAS analysis in 32,576 east asian ancestry individuals//187,365 european ancestry individuals; 10,855 chinese ancestry individuals(p-value = 8E-13 ;OR = 0.0348). 0.4 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels. NCRV0000002308 26053186 NONHSAT181811.1 rs74760234 ? N/A 361 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//440 european ancestry current smoker individuals//452 latino current smoker individuals//702 japanese ancestry current smoker individuals EFO_0001071 in smokers Associate 3-hydroxy-1-methylpropylmercapturic acid levels in smokers rs74760234-? of NONHSAT181811.1 is significantly associated with the 3-hydroxy-1-methylpropylmercapturic acid levels in smokers by using GWAS analysis in 361 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//440 european ancestry current smoker individuals//452 latino current smoker individuals//702 japanese ancestry current smoker individuals(p-value = 4E-7 ;OR = 1.2083). 0.4 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. NCRV0000002826 26379185 NONHSAT153828.1 rs12143151 ? N/A 107 european ancestry mild cases//549 european ancestry population controls EFO_1001488 N/A Associate Mild influenza (h1n1) infection rs12143151-? of NONHSAT153828.1 is significantly associated with the mild influenza (h1n1) infection by using GWAS analysis in 107 european ancestry mild cases//549 european ancestry population controls(p-value = 1E-9 ;OR = 4.231). 0.4 No Major Host Genetic Risk Factor Contributed to A(H1N1)2009 Influenza Severity. NCRV0000003312 27225129 NONHSAT177655.1 rs12957516 T N/A 280,007 european ancestry individuals EFO_0004784 N/A Associate Educational attainment (college completion) rs12957516-T of NONHSAT177655.1 is significantly associated with the educational attainment (college completion) by using GWAS analysis in 280,007 european ancestry individuals(p-value = 2E-8 ;OR = 1.037373). 0.4 Genome-wide association study identifies 74 loci associated with educational attainment. NCRV0000002672 22990020 NONHSAT214890.1 rs6976053 ? N/A 19,599 european ancestry individuals; 10,764 european ancestry individuals EFO_0000378 N/A Associate Plasminogen activator inhibitor type 1 levels (pai-1) rs6976053-? of NONHSAT214890.1 is significantly associated with the plasminogen activator inhibitor type 1 levels (pai-1) by using GWAS analysis in 19,599 european ancestry individuals; 10,764 european ancestry individuals(p-value = 6E-13 ;OR = 0.048). 0.4 Genome-wide association study for circulating levels of PAI-1 provides novel insights into its regulation. NCRV0000002693 24068962 NONHSAT011342.2 rs10491003 T N/A 39,400 european ancestry individuals; up to 21,679 european ancestry individuals EFO_0004838 N/A Associate Calcium levels rs10491003-T of NONHSAT011342.2 is significantly associated with the calcium levels by using GWAS analysis in 39,400 european ancestry individuals; up to 21,679 european ancestry individuals(p-value = 5E-9 ;OR = 0.027). 0.4 Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations. NCRV0000000392 25616667 NONHSAT059290.2 rs9807334 ? N/A 2,232 european ancestry ocb positive individuals//275 european ancestry ocb negative individuals//439 ocb positive individuals//80 ocb negative individuals; 3,026 ocb positive individuals//452 ocb negative individuals EFO_0003885 N/A Associate Oligoclonal band status in multiple sclerosis rs9807334-? of NONHSAT059290.2 is significantly associated with the oligoclonal band status in multiple sclerosis by using GWAS analysis in 2,232 european ancestry ocb positive individuals//275 european ancestry ocb negative individuals//439 ocb positive individuals//80 ocb negative individuals; 3,026 ocb positive individuals//452 ocb negative individuals(p-value = 8E-7 ;OR = 1.52). 0.4 Genetic variants are major determinants of CSF antibody levels in multiple sclerosis. NCRV0000002714 26956414 NONHSAT170965.1 rs2052702 A N/A 3,100 european ancestry cases//7,667 european ancestry controls; 1,958 cases// 5,530 controls EFO_0000095 N/A Associate Chronic lymphocytic leukemia rs2052702-A of NONHSAT170965.1 is significantly associated with the chronic lymphocytic leukemia by using GWAS analysis in 3,100 european ancestry cases//7,667 european ancestry controls; 1,958 cases// 5,530 controls(p-value = 4E-18 ;OR = 1.3157895). 0.4 Meta-analysis of genome-wide association studies discovers multiple loci for chronic lymphocytic leukemia. NCRV0000002604 21297633 NONHSAT003779.2 rs11209026 G N/A 6,687 european ancestry cases//19,718 european ancestry controls; 9,628 european ancestry cases//12,917 european ancestry controls EFO_0000729 N/A Associate Ulcerative colitis rs11209026-G of NONHSAT003779.2 is significantly associated with the ulcerative colitis by using GWAS analysis in 6,687 european ancestry cases//19,718 european ancestry controls; 9,628 european ancestry cases//12,917 european ancestry controls(p-value = 5E-28 ;OR = 1.74). 0.4 Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. NCRV0000002854 26956414 NONHSAT080583.2 rs76473307 A N/A 3,100 european ancestry cases//7,667 european ancestry controls; 1,958 cases// 5,530 controls EFO_0000095 N/A Associate Chronic lymphocytic leukemia rs76473307-A of NONHSAT080583.2 is significantly associated with the chronic lymphocytic leukemia by using GWAS analysis in 3,100 european ancestry cases//7,667 european ancestry controls; 1,958 cases// 5,530 controls(p-value = 7E-6 ;OR = 1.4285715). 0.4 Meta-analysis of genome-wide association studies discovers multiple loci for chronic lymphocytic leukemia. NCRV0000002954 23251661 NONHSAT184938.1 rs6708331 A N/A 815 hispanic children from 263 families EFO_0001073 N/A Associate Obesity-related traits rs6708331-A of NONHSAT184938.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 6E-6 ;OR = 0.04). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. NCRV0000003495 26265699 NONHSAT056714.2 rs4789693 C N/A 274 european ancestry osteonecrosis cases//25 black osteonecrosis cases//68 hispanic osteonecrosis cases//6 asian ancestry osteonecrosis cases//27 other ancestry osteonecrosis cases// 1,477 european ancestry treated controls//223 black treated controls//572 hispanic treated controls//48 asian ancestry treated controls//235 other ancestry treated controls EFO_0004259 Glucocorticoid-induced Associate Glucocorticoid-induced osteonecrosis rs4789693-C of NONHSAT056714.2 is significantly associated with the glucocorticoid-induced osteonecrosis by using GWAS analysis in 274 european ancestry osteonecrosis cases//25 black osteonecrosis cases//68 hispanic osteonecrosis cases//6 asian ancestry osteonecrosis cases//27 other ancestry osteonecrosis cases// 1,477 european ancestry treated controls//223 black treated controls//572 hispanic treated controls//48 asian ancestry treated controls//235 other ancestry treated controls(p-value = 6E-6 ;OR = ?). 0.4 Genetics of glucocorticoid-associated osteonecrosis in children with acute lymphoblastic leukemia. NCRV0000003369 25673413 NONHSAT210418.1 rs943466 G N/A up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals EFO_0001073 N/A Associate Body mass index rs943466-G of NONHSAT210418.1 is significantly associated with the body mass index by using GWAS analysis in up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals(p-value = 9E-6 ;OR = 0.015). 0.4 Genetic studies of body mass index yield new insights for obesity biology. NCRV0000001767 27171184 NONHSAT168833.1 rs4905138 ? N/A 11 taiwanese ancestry cases//146 taiwanese ancestry controls EFO_0004246 N/A Associate Coronary artery aneurysm in kawasaki disease rs4905138-? of NONHSAT168833.1 is significantly associated with the coronary artery aneurysm in kawasaki disease by using GWAS analysis in 11 taiwanese ancestry cases//146 taiwanese ancestry controls(p-value = 8E-6 ;OR = 12.76). 0.4 Genome-Wide Association Study Identifies Novel Susceptibility Genes Associated with Coronary Artery Aneurysm Formation in Kawasaki Disease. NCRV0000000115 27863252 NONHSAT180490.1 rs45474992 T N/A 170,721 european ancestry individuals EFO_0005091 N/A Associate Monocyte count rs45474992-T of NONHSAT180490.1 is significantly associated with the monocyte count by using GWAS analysis in 170,721 european ancestry individuals(p-value = 3E-9 ;OR = 0.05763828). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001608 27863252 NONHSAT153303.1 rs3811445 G N/A 170,548 european ancestry individuals EFO_0007986 N/A Associate Immature fraction of reticulocytes rs3811445-G of NONHSAT153303.1 is significantly associated with the immature fraction of reticulocytes by using GWAS analysis in 170,548 european ancestry individuals(p-value = 6E-65 ;OR = 0.06109995). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002491 28448500 NONHSAT213292.1 rs1055144 ? N/A 2,518 african american women//83,707 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//52,993 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men EFO_0007788 joint analysis for main effect and physical activity interaction Associate Waist-to-hip ratio adjusted for bmi (joint analysis for main effect and physical activity interaction) rs1055144-? of NONHSAT213292.1 is significantly associated with the waist-to-hip ratio adjusted for bmi (joint analysis for main effect and physical activity interaction) by using GWAS analysis in 2,518 african american women//83,707 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//52,993 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men(p-value = 2E-14 ;OR = ?). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. NCRV0000001916 25866641 NONHSAT157799.1 rs1555895 ? N/A 171 european ancestry cases EFO_1000657 N/A Associate Survival in rectal cancer rs1555895-? of NONHSAT157799.1 is significantly associated with the survival in rectal cancer by using GWAS analysis in 171 european ancestry cases(p-value = 3E-6 ;OR = 2.94). 0.4 A genome wide association study on Newfoundland colorectal cancer patients' survival outcomes. NCRV0000001091 28448500 NONHSAT213292.1 rs1055144 ? N/A 561 african american women//352 filipino ancestry women//725 indian ancestry women//19,288 european ancestry women//251 african american men//4,654 indian ancestry men//11,681 european ancestry men//959 european ancestry individuals; 1,437 african american women//5,184 european ancestry women//64 african american men//5,416 european ancestry men EFO_0007789 joint analysis main effects and physical activity interaction Associate Waist circumference adjusted for bmi (joint analysis main effects and physical activity interaction) rs1055144-? of NONHSAT213292.1 is significantly associated with the waist circumference adjusted for bmi (joint analysis main effects and physical activity interaction) by using GWAS analysis in 561 african american women//352 filipino ancestry women//725 indian ancestry women//19,288 european ancestry women//251 african american men//4,654 indian ancestry men//11,681 european ancestry men//959 european ancestry individuals; 1,437 african american women//5,184 european ancestry women//64 african american men//5,416 european ancestry men(p-value = 1E-15 ;OR = ?). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. NCRV0000002077 24097068 NONHSAT193870.1 rs2013208 T N/A 94,595 european ancestry individuals; 93,982 european ancestry individuals EFO_0000319 N/A Associate Hdl cholesterol rs2013208-T of NONHSAT193870.1 is significantly associated with the hdl cholesterol by using GWAS analysis in 94,595 european ancestry individuals; 93,982 european ancestry individuals(p-value = 9E-12 ;OR = 0.025). 0.4 Discovery and refinement of loci associated with lipid levels. NCRV0000003032 23251661 NONHSAT218638.1 rs7004587 A N/A 815 hispanic children from 263 families EFO_0004612 N/A Associate Obesity-related traits rs7004587-A of NONHSAT218638.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 3E-6 ;OR = 0.02). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. NCRV0000002510 26192919 NONHSAT210327.1 rs71559680 G N/A 12,882 european ancestry cases//21,770 european ancestry controls; 25,273 european ancestry cases//26,715 european ancestry controls//548 iranian ancestry cases//342 iranian ancestry control//1,423 indian ancestry cases//990 indian ancestry controls//2,824 east asian ancestry cases//3,719 east asian ancestry controls EFO_0003767 N/A Associate Inflammatory bowel disease rs71559680-G of NONHSAT210327.1 is significantly associated with the inflammatory bowel disease by using GWAS analysis in 12,882 european ancestry cases//21,770 european ancestry controls; 25,273 european ancestry cases//26,715 european ancestry controls//548 iranian ancestry cases//342 iranian ancestry control//1,423 indian ancestry cases//990 indian ancestry controls//2,824 east asian ancestry cases//3,719 east asian ancestry controls(p-value = 2E-10 ;OR = 1.0647465). 0.4 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. NCRV0000002049 26198764 NONHSAT192657.1 rs1974653 A N/A 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls EFO_0000692 N/A Associate Schizophrenia rs1974653-A of NONHSAT192657.1 is significantly associated with the schizophrenia by using GWAS analysis in 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls(p-value = 8E-6 ;OR = 1.06). 0.4 Genome-wide association study of schizophrenia in Ashkenazi Jews. NCRV0000003871 23362303 NONHSAT102192.2 rs4555772 A N/A 8,961 european ancestry individuals; EFO_0001645 N/A Associate Stearic acid (18:0) levels rs4555772-A of NONHSAT102192.2 is significantly associated with the stearic acid (18:0) levels by using GWAS analysis in 8,961 european ancestry individuals; (p-value = 4E-6 ;OR = 0.0888). 0.4 Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium. NCRV0000000780 20694148 NONHSAT190959.1 rs2835810 ? N/A 2,554 indian asian ancestry individuals; 2,240 indian asian ancestry individuals EFO_0000195 N/A Associate Metabolic syndrome rs2835810-? of NONHSAT190959.1 is significantly associated with the metabolic syndrome by using GWAS analysis in 2,554 indian asian ancestry individuals; 2,240 indian asian ancestry individuals(p-value = 6E-6 ;OR = ?). 0.4 A genome-wide association study of the metabolic syndrome in Indian Asian men. NCRV0000000414 22685421 NONHSAT182034.1 rs1137 C N/A 2,789 chinese ancestry individuals//2,155 malay ancestry individuals EFO_0004207 N/A Associate Myopia (pathological) rs1137-C of NONHSAT182034.1 is significantly associated with the myopia (pathological) by using GWAS analysis in 2,789 chinese ancestry individuals//2,155 malay ancestry individuals(p-value = 4E-6 ;OR = 0.12). 0.4 Genetic variants on chromosome 1q41 influence ocular axial length and high myopia. NCRV0000003521 26198764 NONHSAT152805.1 rs7523273 A N/A 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls EFO_0000692 N/A Associate Schizophrenia rs7523273-A of NONHSAT152805.1 is significantly associated with the schizophrenia by using GWAS analysis in 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls(p-value = 4E-7 ;OR = 1.06). 0.4 Genome-wide association study of schizophrenia in Ashkenazi Jews. NCRV0000000608 27863252 NONHSAT152395.1 rs1050316 T N/A 164,339 european ancestry individuals EFO_0007985 N/A Associate Plateletcrit rs1050316-T of NONHSAT152395.1 is significantly associated with the plateletcrit by using GWAS analysis in 164,339 european ancestry individuals(p-value = 2E-14 ;OR = 0.0295196). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000141 24047446 NONHSAT023561.2 rs17221829 A N/A 1,080 european ancestry cases//442 european ancestry controls EFO_0006788 N/A Associate Anxiety in major depressive disorder rs17221829-A of NONHSAT023561.2 is significantly associated with the anxiety in major depressive disorder by using GWAS analysis in 1,080 european ancestry cases//442 european ancestry controls(p-value = 5E-6 ;OR = 0.4408). 0.4 Genome-wide association study of co-occurring anxiety in major depression. NCRV0000003795 27863252 NONHSAT053105.2 rs36064799 CA N/A 170,763 european ancestry individuals EFO_0007986 N/A Associate High light scatter reticulocyte count rs36064799-CA of NONHSAT053105.2 is significantly associated with the high light scatter reticulocyte count by using GWAS analysis in 170,763 european ancestry individuals(p-value = 1E-14 ;OR = 0.06594627). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003513 27126917 NONHSAT203811.1 rs26877 T N/A 941 european ancestry individuals EFO_0008568 N/A Associate Night sleep phenotypes rs26877-T of NONHSAT203811.1 is significantly associated with the night sleep phenotypes by using GWAS analysis in 941 european ancestry individuals(p-value = 6E-6 ;OR = 0.2569). 0.4 Genome-wide association analysis of actigraphic sleep phenotypes in the LIFE Adult Study. NCRV0000000470 24861553 NONHSAT201188.1 rs16858082 T N/A 82,438 east asian ancestry individuals//4,301 south east asian ancestry individuals; up to 47,352 east asian ancestry individuals EFO_0001073 N/A Associate Body mass index rs16858082-T of NONHSAT201188.1 is significantly associated with the body mass index by using GWAS analysis in 82,438 east asian ancestry individuals//4,301 south east asian ancestry individuals; up to 47,352 east asian ancestry individuals(p-value = 4E-9 ;OR = 0.0324). 0.4 Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index. NCRV0000000962 27863252 NONHSAT220313.1 rs605642 A N/A 171,771 european ancestry individuals EFO_0009389 N/A Associate Sum eosinophil basophil counts rs605642-A of NONHSAT220313.1 is significantly associated with the sum eosinophil basophil counts by using GWAS analysis in 171,771 european ancestry individuals(p-value = 2E-11 ;OR = 0.02440247). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001864 29064472 NONHSAT180693.1 rs7246760 A N/A 114 african ancestry schizophrenia cases//69 african schizo-affective cases//41 african ancestry bipolar disorder cases//76 african ancestry controls//116 european ancestry schizophrenia cases//86 european ancestry schizo-affective cases//165 european ancestry bipolar disorder cases//182 european ancestry controls EFO_0005407 N/A Associate Pursuit maintenance gain rs7246760-A of NONHSAT180693.1 is significantly associated with the pursuit maintenance gain by using GWAS analysis in 114 african ancestry schizophrenia cases//69 african schizo-affective cases//41 african ancestry bipolar disorder cases//76 african ancestry controls//116 european ancestry schizophrenia cases//86 european ancestry schizo-affective cases//165 european ancestry bipolar disorder cases//182 european ancestry controls(p-value = 5E-6 ;OR = ?). 0.4 Genome-wide association studies of smooth pursuit and antisaccade eye movements in psychotic disorders: findings from the B-SNIP study. NCRV0000002589 27989323 NONHSAT089837.2 rs183139656 C N/A 8,243 finnish ancestry individuals EFO_0005140 N/A Associate Macrophage inflammatory protein 1b levels rs183139656-C of NONHSAT089837.2 is significantly associated with the macrophage inflammatory protein 1b levels by using GWAS analysis in 8,243 finnish ancestry individuals(p-value = 3E-14 ;OR = 0.3095). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. NCRV0000003532 20062062 NONHSAT003779.2 rs11209026 ? N/A 2,053 european ancestry cases//5,140 european ancestry controls; 898 european ancestry cases//1,518 european ancestry controls EFO_0003898 N/A Associate Ankylosing spondylitis rs11209026-? of NONHSAT003779.2 is significantly associated with the ankylosing spondylitis by using GWAS analysis in 2,053 european ancestry cases//5,140 european ancestry controls; 898 european ancestry cases//1,518 european ancestry controls(p-value = 9E-14 ;OR = 1.89). 0.4 Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci. NCRV0000001389 25188341 NONHSAT179793.1 rs429358 C N/A up to 3,526 individuals EFO_0006792 N/A Associate Lewy body disease rs429358-C of NONHSAT179793.1 is significantly associated with the lewy body disease by using GWAS analysis in up to 3,526 individuals(p-value = 1E-12 ;OR = 0.4997). 0.4 Genome-wide association meta-analysis of neuropathologic features of Alzheimer's disease and related dementias. NCRV0000000535 25918132 NONHSAT203898.1 rs16867528 A N/A 74 european ancestry cases//824 european ancestry controls EFO_0000270 N/A Associate Diisocyanate-induced asthma rs16867528-A of NONHSAT203898.1 is significantly associated with the diisocyanate-induced asthma by using GWAS analysis in 74 european ancestry cases//824 european ancestry controls(p-value = 2E-8 ;OR = 7.39). 0.4 Genome-Wide Association Study Identifies Novel Loci Associated With Diisocyanate-Induced Occupational Asthma. NCRV0000002422 27863252 NONHSAT208991.1 rs2753960 T N/A 170,721 european ancestry individuals EFO_0005091 N/A Associate Monocyte count rs2753960-T of NONHSAT208991.1 is significantly associated with the monocyte count by using GWAS analysis in 170,721 european ancestry individuals(p-value = 2E-14 ;OR = 0.02776258). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003041 25327703 NONHSAT211294.1 rs140068132 A N/A 1,497 latino cases//3,213 latino controls; 1,643 latino cases//4,971 latino controls EFO_0000305 N/A Associate Breast cancer rs140068132-A of NONHSAT211294.1 is significantly associated with the breast cancer by using GWAS analysis in 1,497 latino cases//3,213 latino controls; 1,643 latino cases//4,971 latino controls(p-value = 9E-18 ;OR = 1.67). 0.4 Genome-wide association study of breast cancer in Latinas identifies novel protective variants on 6q25. NCRV0000001651 28107422 NONHSAT169455.1 rs194741 ? N/A 91,953 european ancestry individuals (imputed to hapmap); EFO_0004623 N/A Associate Fibrinogen levels rs194741-? of NONHSAT169455.1 is significantly associated with the fibrinogen levels by using GWAS analysis in 91,953 european ancestry individuals (imputed to hapmap); (p-value = 8E-14 ;OR = 0.0092). 0.4 Comparison of HapMap and 1000 Genomes Reference Panels in a Large-Scale Genome-Wide Association Study. NCRV0000003049 27863252 NONHSAT202777.1 rs2928166 C N/A 172,925 european ancestry individuals EFO_0004509 N/A Associate Hemoglobin concentration rs2928166-C of NONHSAT202777.1 is significantly associated with the hemoglobin concentration by using GWAS analysis in 172,925 european ancestry individuals(p-value = 3E-12 ;OR = 0.03737965). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001451 27863252 NONHSAT108210.2 rs1799945 G N/A 166,066 european ancestry individuals EFO_0004309 N/A Associate Platelet count rs1799945-G of NONHSAT108210.2 is significantly associated with the platelet count by using GWAS analysis in 166,066 european ancestry individuals(p-value = 5E-12 ;OR = 0.03507084). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003941 19896111 NONHSAT078295.2 rs261360 A N/A 4,845 european ancestry individuals from 2,892 families//16,140 european ancestry individuals EFO_0005038 N/A Associate Hair morphology rs261360-A of NONHSAT078295.2 is significantly associated with the hair morphology by using GWAS analysis in 4,845 european ancestry individuals from 2,892 families//16,140 european ancestry individuals(p-value = 3E-6 ;OR = ?). 0.4 Common variants in the trichohyalin gene are associated with straight hair in Europeans. NCRV0000001972 26227905 NONHSAT178361.1 rs1362858 ? N/A 250 han chinese ancestry cases//250 han chinese ancestry controls EFO_0002508 N/A Associate Parkinson's disease rs1362858-? of NONHSAT178361.1 is significantly associated with the parkinson's disease by using GWAS analysis in 250 han chinese ancestry cases//250 han chinese ancestry controls(p-value = 1E-6 ;OR = 2.68). 0.4 A Pooling Genome-Wide Association Study Combining a Pathway Analysis for Typical Sporadic Parkinson's Disease in the Han Population of Chinese Mainland. NCRV0000003483 26621817 NONHSAT028182.2 rs12817211 C N/A 5,725 european ancestry colorectal carcinoma cases//2,212 european ancestry endometrial carcinoma cases//13,396 european ancestry controls EFO_1001512 N/A Associate Colorectal or endometrial cancer rs12817211-C of NONHSAT028182.2 is significantly associated with the colorectal or endometrial cancer by using GWAS analysis in 5,725 european ancestry colorectal carcinoma cases//2,212 european ancestry endometrial carcinoma cases//13,396 european ancestry controls(p-value = 3E-6 ;OR = 1.12). 0.4 Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1. NCRV0000003219 27989323 NONHSAT057193.2 rs12456390 C N/A 7,118 finnish ancestry individuals EFO_0004762 N/A Associate Vascular endothelial growth factor levels rs12456390-C of NONHSAT057193.2 is significantly associated with the vascular endothelial growth factor levels by using GWAS analysis in 7,118 finnish ancestry individuals(p-value = 5E-6 ;OR = 0.0815). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. NCRV0000000540 25673412 NONHSAT112682.2 rs2033529 A N/A up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women EFO_0004342 N/A Associate Waist circumference rs2033529-A of NONHSAT112682.2 is significantly associated with the waist circumference by using GWAS analysis in up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women(p-value = 2E-8 ;OR = 0.0209). 0.4 New genetic loci link adipose and insulin biology to body fat distribution. NCRV0000000604 26034056 NONHSAT200257.1 rs7679673 C N/A 6,406 european ancestry cases//601 african american cases//288 east asian ancestry cases//488 latino cases30,866 european ancestry controls//1,650 african american controls//2,938 east asian ancestry controls//3,141 latino controls; 4,599 european ancestry cases//2,265 african american cases//2,940 european ancestry controls//2,414 african american controls EFO_0001663 N/A Associate Prostate cancer rs7679673-C of NONHSAT200257.1 is significantly associated with the prostate cancer by using GWAS analysis in 6,406 european ancestry cases//601 african american cases//288 east asian ancestry cases//488 latino cases30,866 european ancestry controls//1,650 african american controls//2,938 east asian ancestry controls//3,141 latino controls; 4,599 european ancestry cases//2,265 african american cases//2,940 european ancestry controls//2,414 african american controls(p-value = 5E-8 ;OR = 1.12). 0.4 A large multiethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences. NCRV0000002338 22423221 NONHSAT180207.1 rs8109288 G N/A 16,388 african american individuals EFO_0004309 N/A Associate Mean platelet volume rs8109288-G of NONHSAT180207.1 is significantly associated with the mean platelet volume by using GWAS analysis in 16,388 african american individuals(p-value = 5E-10 ;OR = 8.72). 0.4 A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans. NCRV0000000223 28928442 NONHSAT207053.1 rs3131856 ? N/A 4,426 european ancestry cases//84,290 european ancestry controls EFO_0008407 N/A Associate Tuberculosis rs3131856-? of NONHSAT207053.1 is significantly associated with the tuberculosis by using GWAS analysis in 4,426 european ancestry cases//84,290 european ancestry controls(p-value = 1E-7 ;OR = 0.1953). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. NCRV0000003309 28443625 NONHSAT121628.2 rs2245368 T N/A 98,173 european ancestry women//64,373 european ancestry men//5,829 european ancestry individuals//10,500 african american/afro-caribbean ancestry women//2,706 african american/afro-caribbean ancestry men//1,030 indian asian ancestry women//7,648 indian asian ancestry men//1,793 filipino ancestry women//2,944 hispanic/latino ancestry women//1,764 hispanic/latino ancestry men; 21,496 european ancestry women//24,385 european ancestry men//118,364 european ancestry individuals//2,326 african american/afro-caribbean ancestry women//855 african american/afro-caribbean ancestry men EFO_0001073 adjusted for smoking behaviour Associate Bmi (adjusted for smoking behaviour) rs2245368-T of NONHSAT121628.2 is significantly associated with the bmi (adjusted for smoking behaviour) by using GWAS analysis in 98,173 european ancestry women//64,373 european ancestry men//5,829 european ancestry individuals//10,500 african american/afro-caribbean ancestry women//2,706 african american/afro-caribbean ancestry men//1,030 indian asian ancestry women//7,648 indian asian ancestry men//1,793 filipino ancestry women//2,944 hispanic/latino ancestry women//1,764 hispanic/latino ancestry men; 21,496 european ancestry women//24,385 european ancestry men//118,364 european ancestry individuals//2,326 african american/afro-caribbean ancestry women//855 african american/afro-caribbean ancestry men(p-value = 3E-10 ;OR = 0.0331). 0.4 Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. NCRV0000001310 28537254 NONHSAT004062.2 rs34517439 A N/A up to 11,988 european ancestry cases//up to 275,335 european ancestry controls; 7,044 european ancestry cases//11,434 european ancestry controls EFO_0000676 N/A Associate Psoriasis rs34517439-A of NONHSAT004062.2 is significantly associated with the psoriasis by using GWAS analysis in up to 11,988 european ancestry cases//up to 275,335 european ancestry controls; 7,044 european ancestry cases//11,434 european ancestry controls(p-value = 4E-9 ;OR = 1.18). 0.4 Large scale meta-analysis characterizes genetic architecture for common psoriasis associated variants. NCRV0000003204 23535732 NONHSAT080918.2 rs6062509 A N/A 11,085 european ancestry cases//11,463 european ancestry controls; 19,662 european ancestry cases//19,715 european ancestry controls EFO_0001663 N/A Associate Prostate cancer rs6062509-A of NONHSAT080918.2 is significantly associated with the prostate cancer by using GWAS analysis in 11,085 european ancestry cases//11,463 european ancestry controls; 19,662 european ancestry cases//19,715 european ancestry controls(p-value = 4E-16 ;OR = 1.12). 0.4 Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. NCRV0000000942 28604730 NONHSAT004062.2 rs34517439 A N/A 29,266 european ancestry cases//56,450 european ancestry controls EFO_0001071 N/A Associate Lung cancer rs34517439-A of NONHSAT004062.2 is significantly associated with the lung cancer by using GWAS analysis in 29,266 european ancestry cases//56,450 european ancestry controls(p-value = 2E-10 ;OR = 1.1355314). 0.4 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. NCRV0000001121 23648065 NONHSAT214390.1 rs6961860 G N/A 371 japanese ancestry cases//825 japanese ancestry controls DOID_615 all antimetabolite drugs Associate Adverse response to chemotherapy (neutropenia/leucopenia) rs6961860-G of NONHSAT214390.1 is significantly associated with the adverse response to chemotherapy (neutropenia/leucopenia) by using GWAS analysis in 371 japanese ancestry cases//825 japanese ancestry controls(p-value = 5E-6 ;OR = 1.283). 0.4 Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan. NCRV0000000945 28644415 NONHSAT184017.1 rs62105778 ? N/A 141 individuals EFO_0008111 N/A Associate Prudent dietary pattern rs62105778-? of NONHSAT184017.1 is significantly associated with the prudent dietary pattern by using GWAS analysis in 141 individuals(p-value = 3E-6 ;OR = ?). 0.4 Genome-Wide Association Study of Dietary Pattern Scores.LID - E649 [pii]LID - 10.3390/nu9070649 [doi]AB - Dietary patterns, representing global food supplies rather than specific nutrients or food intakes, have been associated with cardiovascul NCRV0000001720 27863252 NONHSAT130003.2 rs369552432 A N/A 172,925 european ancestry individuals EFO_0004509 N/A Associate Hemoglobin concentration rs369552432-A of NONHSAT130003.2 is significantly associated with the hemoglobin concentration by using GWAS analysis in 172,925 european ancestry individuals(p-value = 2E-11 ;OR = 0.02564572). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001113 26634245 NONHSAT218862.1 rs188809019 T N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs188809019-T of NONHSAT218862.1 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 4E-6 ;OR = 0.827). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000001973 26169365 NONHSAT067642.2 rs1133146 A N/A 539 non-aboriginal taiwanese ancestry low yu-zhi score individuals//408 non-aboriginal taiwanese ancestry high yu-zhi score individuals EFO_0001360 N/A Associate Yu-zhi constitution type in type 2 diabetes rs1133146-A of NONHSAT067642.2 is significantly associated with the yu-zhi constitution type in type 2 diabetes by using GWAS analysis in 539 non-aboriginal taiwanese ancestry low yu-zhi score individuals//408 non-aboriginal taiwanese ancestry high yu-zhi score individuals(p-value = 5E-6 ;OR = 1.52). 0.4 Susceptible gene of stasis-stagnation constitution from genome-wide association study related to cardiovascular disturbance and possible regulated traditional Chinese medicine. NCRV0000002579 21627779 NONHSAT182593.1 rs744373 ? N/A 319 european ancestry cases//769 european ancestry controls//2,690 cases//2,237 controls; 4,982 european ancestry cases//7,961 european ancestry controls//2,190 cases//3,374 controls EFO_0000249 N/A Associate Alzheimer's disease rs744373-? of NONHSAT182593.1 is significantly associated with the alzheimer's disease by using GWAS analysis in 319 european ancestry cases//769 european ancestry controls//2,690 cases//2,237 controls; 4,982 european ancestry cases//7,961 european ancestry controls//2,190 cases//3,374 controls(p-value = 2E-9 ;OR = 1.18). 0.4 The membrane-spanning 4-domains, subfamily A (MS4A) gene cluster contains a common variant associated with Alzheimer's disease. NCRV0000001684 25469926 NONHSAT179016.1 rs12165098 ? N/A 47,180 european ancestry individuals; 4,771 african american individuals EFO_0008568 N/A Associate Sleep duration rs12165098-? of NONHSAT179016.1 is significantly associated with the sleep duration by using GWAS analysis in 47,180 european ancestry individuals; 4,771 african american individuals(p-value = 5E-6 ;OR = 3.18). 0.4 Novel loci associated with usual sleep duration: the CHARGE Consortium Genome-Wide Association Study. NCRV0000002068 20418890 NONHSAT018519.2 rs6265 C N/A up to 74,035 european ancestry individuals; up to 68,988 participants EFO_0004318 N/A Associate Smoking behavior rs6265-C of NONHSAT018519.2 is significantly associated with the smoking behavior by using GWAS analysis in up to 74,035 european ancestry individuals; up to 68,988 participants(p-value = 2E-8 ;OR = 1.06). 0.4 Genome-wide meta-analyses identify multiple loci associated with smoking behavior. NCRV0000002665 26561523 NONHSAT183488.1 rs715 C N/A 120,246 european ancestry individuals EFO_0004623 N/A Associate Fibrinogen levels rs715-C of NONHSAT183488.1 is significantly associated with the fibrinogen levels by using GWAS analysis in 120,246 european ancestry individuals(p-value = 4E-16 ;OR = 0.0082). 0.4 A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration. NCRV0000003739 28067908 NONHSAT183947.1 rs76527535 C N/A 25,042 european and unknown ancestry cases//34,915 european and unknown ancestry controls EFO_0003767 N/A Associate Inflammatory bowel disease rs76527535-C of NONHSAT183947.1 is significantly associated with the inflammatory bowel disease by using GWAS analysis in 25,042 european and unknown ancestry cases//34,915 european and unknown ancestry controls(p-value = 3E-8 ;OR = 1.09). 0.4 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. NCRV0000003559 19820698 NONHSAT206981.1 rs198846 A N/A 6,316 european ancestry individuals//9,685 indian asian ancestry individuals; 5,187 european ancestry individuals//6,721 indian asian ancestry individuals EFO_0004509 N/A Associate Hemoglobin rs198846-A of NONHSAT206981.1 is significantly associated with the hemoglobin by using GWAS analysis in 6,316 european ancestry individuals//9,685 indian asian ancestry individuals; 5,187 european ancestry individuals//6,721 indian asian ancestry individuals(p-value = 1E-8 ;OR = ?). 0.4 Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels. NCRV0000002148 22005931 NONHSAT030969.2 rs17429217 ? N/A 1,190 european ancestry cases//1,032 cases EFO_0000249 N/A Associate Alzheimer's disease (age of onset) rs17429217-? of NONHSAT030969.2 is significantly associated with the alzheimer's disease (age of onset) by using GWAS analysis in 1,190 european ancestry cases//1,032 cases(p-value = 3E-6 ;OR = 2.436). 0.4 Genome-wide association analysis of age-at-onset in Alzheimer's disease. NCRV0000001695 28073927 NONHSAT219942.1 rs2487048 A N/A 25,916 european ancestry individuals//1,073 orcadian (founder/genetic isolate) individuals//2,589 erasmus rucphen (founder/genetic isolate) individuals; 8,352 asian ancestry individuals EFO_0004695 N/A Associate Intraocular pressure rs2487048-A of NONHSAT219942.1 is significantly associated with the intraocular pressure by using GWAS analysis in 25,916 european ancestry individuals//1,073 orcadian (founder/genetic isolate) individuals//2,589 erasmus rucphen (founder/genetic isolate) individuals; 8,352 asian ancestry individuals(p-value = 5E-13 ;OR = 0.15). 0.4 New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics. NCRV0000001252 28892062 NONHSAT069699.2 rs11126666 A N/A up to 72,390 japanese ancestry women//up to 85,894 japanese ancestry men; up to 10,048 japanese ancestry women//up to 5,098 japanese ancestry men//up to 181,999 european ancestry women//up to 140,155 european ancestry controls EFO_0001073 N/A Associate Body mass index rs11126666-A of NONHSAT069699.2 is significantly associated with the body mass index by using GWAS analysis in up to 72,390 japanese ancestry women//up to 85,894 japanese ancestry men; up to 10,048 japanese ancestry women//up to 5,098 japanese ancestry men//up to 181,999 european ancestry women//up to 140,155 european ancestry controls(p-value = 1E-13 ;OR = 0.019). 0.4 Genome-wide association study identifies 112 new loci for body mass index in the Japanese population. NCRV0000000512 26053186 NONHSAT121601.2 rs2908197 ? N/A 362 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//438 european ancestry current smoker individuals//449 latino current smoker individuals//704 japanese ancestry current smoker individuals EFO_0001071 in smokers Associate 3-hydroxypropylmercapturic acid levels in smokers rs2908197-? of NONHSAT121601.2 is significantly associated with the 3-hydroxypropylmercapturic acid levels in smokers by using GWAS analysis in 362 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//438 european ancestry current smoker individuals//449 latino current smoker individuals//704 japanese ancestry current smoker individuals(p-value = 2E-6 ;OR = 0.1227). 0.4 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. NCRV0000000518 28540026 NONHSAT108251.2 rs61747867 T N/A schizophrenia cases and controls (see ripke//2014)cases//up to 1,190 controls EFO_0000692 N/A Associate Schizophrenia rs61747867-T of NONHSAT108251.2 is significantly associated with the schizophrenia by using GWAS analysis in schizophrenia cases and controls (see ripke//2014)cases//up to 1,190 controls(p-value = 2E-9 ;OR = 1.08). 0.4 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. NCRV0000001325 28498854 NONHSAT215731.1 rs10096908 ? N/A up to 31,155 african individuals; up to 4,187 african individuals//up to 14,016 korean ancestry individuals//up to 23,914 european ancestry individuals//up to 12,278 hispanic individuals EFO_0006335 N/A Associate Blood pressure traits (multi-trait analysis) rs10096908-? of NONHSAT215731.1 is significantly associated with the blood pressure traits (multi-trait analysis) by using GWAS analysis in up to 31,155 african individuals; up to 4,187 african individuals//up to 14,016 korean ancestry individuals//up to 23,914 european ancestry individuals//up to 12,278 hispanic individuals(p-value = 2E-6 ;OR = ?). 0.4 Single-trait and multi-trait genome-wide association analyses identify novel loci for blood pressure in African-ancestry populations. NCRV0000000645 28498854 NONHSAT215731.1 rs10096908 ? N/A up to 31,155 african individuals; up to 4,187 african individuals//up to 14,016 korean ancestry individuals//up to 23,914 european ancestry individuals//up to 12,278 hispanic individuals EFO_0006336 N/A Associate Blood pressure traits (multi-trait analysis) rs10096908-? of NONHSAT215731.1 is significantly associated with the blood pressure traits (multi-trait analysis) by using GWAS analysis in up to 31,155 african individuals; up to 4,187 african individuals//up to 14,016 korean ancestry individuals//up to 23,914 european ancestry individuals//up to 12,278 hispanic individuals(p-value = 2E-6 ;OR = ?). 0.4 Single-trait and multi-trait genome-wide association analyses identify novel loci for blood pressure in African-ancestry populations. NCRV0000002768 24166409 NONHSAT198855.1 rs6532798 ? N/A 4,629 african american individuals//5,131 european ancestry individuals; 801 african american individuals//1,746 european ancestry individuals EFO_0003829 N/A Associate Alcohol dependence rs6532798-? of NONHSAT198855.1 is significantly associated with the alcohol dependence by using GWAS analysis in 4,629 african american individuals//5,131 european ancestry individuals; 801 african american individuals//1,746 european ancestry individuals(p-value = 7E-6 ;OR = ?). 0.4 Genome-wide association study of alcohol dependence:significant findings in African- and European-Americans including novel risk loci. NCRV0000000866 28540026 NONHSAT206231.1 rs427691 A N/A schizophrenia cases and controls (see ripke//2014)cases//up to 1,190 controls EFO_0000692 N/A Associate Schizophrenia rs427691-A of NONHSAT206231.1 is significantly associated with the schizophrenia by using GWAS analysis in schizophrenia cases and controls (see ripke//2014)cases//up to 1,190 controls(p-value = 3E-8 ;OR = 1.06). 0.4 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. NCRV0000002370 20953188 NONHSAT203488.1 rs2546890 A N/A 472 european ancestry cases//1,146 european ancestry controls; 2,668//european ancestry cases//762 french canadian founder population cases//2,585 cases//3,485 european ancestry controls//994 french canadian founder population controls//2,412 controls EFO_0000676 N/A Associate Psoriasis rs2546890-A of NONHSAT203488.1 is significantly associated with the psoriasis by using GWAS analysis in 472 european ancestry cases//1,146 european ancestry controls; 2,668//european ancestry cases//762 french canadian founder population cases//2,585 cases//3,485 european ancestry controls//994 french canadian founder population controls//2,412 controls(p-value = 1E-20 ;OR = 1.54). 0.4 Genome-wide association study identifies a psoriasis susceptibility locus at TRAF3IP2. NCRV0000002096 23770605 NONHSAT160982.1 rs7944004 T N/A 2,179 european ancestry cases//6,221 european ancestry controls; 1,709 european ancestry cases//6,318 european ancestry controls EFO_0000095 N/A Associate Chronic lymphocytic leukemia rs7944004-T of NONHSAT160982.1 is significantly associated with the chronic lymphocytic leukemia by using GWAS analysis in 2,179 european ancestry cases//6,221 european ancestry controls; 1,709 european ancestry cases//6,318 european ancestry controls(p-value = 2E-10 ;OR = 1.2). 0.4 Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia. NCRV0000001261 24025145 NONHSAT201010.1 rs6845621 C N/A 64 japanese ancestry cases//27 japanese ancestry controls EFO_0000305 cyclophosphamide+doxorubicin+/-5FU Associate Adverse response to chemotherapy in breast cancer (alopecia) rs6845621-C of NONHSAT201010.1 is significantly associated with the adverse response to chemotherapy in breast cancer (alopecia) by using GWAS analysis in 64 japanese ancestry cases//27 japanese ancestry controls(p-value = 2E-6 ;OR = 5.53). 0.4 A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients. NCRV0000002334 26192919 NONHSAT191834.1 rs2836878 G N/A 6,968 european ancestry cases//20,464 european ancestry controls; 10,679 european ancestry cases//26,715 european ancestry controls//397 iranian ancestry cases//342 iranian ancestry controls//1,239 indian ancestry cases//990 indian ancestry controls//1,134 east asian ancestry cases//3,719 east asian ancestry controls EFO_0000729 N/A Associate Ulcerative colitis rs2836878-G of NONHSAT191834.1 is significantly associated with the ulcerative colitis by using GWAS analysis in 6,968 european ancestry cases//20,464 european ancestry controls; 10,679 european ancestry cases//26,715 european ancestry controls//397 iranian ancestry cases//342 iranian ancestry controls//1,239 indian ancestry cases//990 indian ancestry controls//1,134 east asian ancestry cases//3,719 east asian ancestry controls(p-value = 7E-53 ;OR = 1.25304). 0.4 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. NCRV0000000926 23251661 NONHSAT167691.1 rs2593525 C N/A 815 hispanic children from 263 families EFO_0004612 N/A Associate Obesity-related traits rs2593525-C of NONHSAT167691.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 2E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. NCRV0000002152 29221444 NONHSAT214812.1 rs6944685 ? N/A 345 african american cases//346 african american controls; 137 african american cases//68 african american controls EFO_0004723 N/A Associate Coronary artery calcified atherosclerotic plaque (90 or 130 hu threshold) in type 2 diabetes rs6944685-? of NONHSAT214812.1 is significantly associated with the coronary artery calcified atherosclerotic plaque (90 or 130 hu threshold) in type 2 diabetes by using GWAS analysis in 345 african american cases//346 african american controls; 137 african american cases//68 african american controls(p-value = 9E-6 ;OR = 0.161). 0.4 Genome-wide association study of coronary artery calcified atherosclerotic plaque in African Americans with type 2 diabetes. NCRV0000002652 26634245 NONHSAT215343.1 rs191935895 A N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs191935895-A of NONHSAT215343.1 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 3E-6 ;OR = 0.334). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000003425 27117709 NONHSAT211293.1 rs11155804 ? N/A 4,939 european ancestry cases//14,352 european ancestry controls; 7,333 european ancestry cases//42,468 european ancestry controls EFO_1000650 N/A Associate Breast cancer (estrogen-receptor negative) rs11155804-? of NONHSAT211293.1 is significantly associated with the breast cancer (estrogen-receptor negative) by using GWAS analysis in 4,939 european ancestry cases//14,352 european ancestry controls; 7,333 european ancestry cases//42,468 european ancestry controls(p-value = 8E-18 ;OR = 1.16). 0.4 Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer. NCRV0000001189 27863252 NONHSAT017523.2 rs231353 G N/A 164,339 european ancestry individuals EFO_0007985 N/A Associate Plateletcrit rs231353-G of NONHSAT017523.2 is significantly associated with the plateletcrit by using GWAS analysis in 164,339 european ancestry individuals(p-value = 2E-9 ;OR = 0.02308014). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002310 28739976 NONHSAT108210.2 rs1799945 G N/A 150,134 european ancestry individuals; 87,359 european ancestry individuals//140,886 european and unknown ancestry individuals EFO_0006336 N/A Associate Diastolic blood pressure rs1799945-G of NONHSAT108210.2 is significantly associated with the diastolic blood pressure by using GWAS analysis in 150,134 european ancestry individuals; 87,359 european ancestry individuals//140,886 european and unknown ancestry individuals(p-value = 9E-14 ;OR = 0.465). 0.4 Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.LID - HYPERTENSIONAHA.117.09438 [pii]LID - 10.1161/HYPERTENSIONAHA.117.09438 [doi]AB - Elevated blood pressure NCRV0000003720 23568457 NONHSAT064100.2 rs12986207 G N/A 151 european ancestry female cases//2,291 european ancestry female controls EFO_0005204 N/A Associate Bulimia nervosa rs12986207-G of NONHSAT064100.2 is significantly associated with the bulimia nervosa by using GWAS analysis in 151 european ancestry female cases//2,291 european ancestry female controls(p-value = 4E-6 ;OR = 0.044). 0.4 Genetic variants associated with disordered eating. NCRV0000000598 18464913 NONHSAT152242.1 rs4950322 ? N/A 1,200 european ancestry individuals; up to 4,590 european ancestry individuals EFO_0004509 N/A Associate Protein quantitative trait loci rs4950322-? of NONHSAT152242.1 is significantly associated with the protein quantitative trait loci by using GWAS analysis in 1,200 european ancestry individuals; up to 4,590 european ancestry individuals(p-value = 7E-7 ;OR = ?). 0.4 A genome-wide association study identifies protein quantitative trait loci (pQTLs). NCRV0000003364 25839716 NONHSAT167587.1 rs117093004 ? N/A 922 european ancestry individuals EFO_0007042 N/A Associate Polychlorinated biphenyl levels rs117093004-? of NONHSAT167587.1 is significantly associated with the polychlorinated biphenyl levels by using GWAS analysis in 922 european ancestry individuals(p-value = 5E-7 ;OR = 1.64). 0.4 Genome-wide association study of plasma levels of polychlorinated biphenyls disclose an association with the CYP2B6 gene in a population-based sample. NCRV0000000310 28416818 NONHSAT157147.1 rs10824026 A N/A 7,323 european ancestry cases//102,776 european ancestry controls.; EFO_0000275 N/A Associate Atrial fibrillation rs10824026-A of NONHSAT157147.1 is significantly associated with the atrial fibrillation by using GWAS analysis in 7,323 european ancestry cases//102,776 european ancestry controls.; (p-value = 8E-11 ;OR = 1.13). 0.4 Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation. NCRV0000003557 26068415 NONHSAT183488.1 rs715 T N/A up to 7,478 european ancestry individuals; 1,182 european ancestry individuals EFO_0004725 N/A Associate Amino acid levels rs715-T of NONHSAT183488.1 is significantly associated with the amino acid levels by using GWAS analysis in up to 7,478 european ancestry individuals; 1,182 european ancestry individuals(p-value = 3E-11 ;OR = 0.0311). 0.4 Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels. NCRV0000002489 24816252 NONHSAT176679.1 rs4625783 T N/A 7,824 european ancestry individuals EFO_0005664 N/A Associate Blood metabolite levels rs4625783-T of NONHSAT176679.1 is significantly associated with the blood metabolite levels by using GWAS analysis in 7,824 european ancestry individuals(p-value = 4E-13 ;OR = 0.019). 0.4 An atlas of genetic influences on human blood metabolites. NCRV0000003644 25673413 NONHSAT018228.2 rs1557765 C N/A up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals EFO_0001073 N/A Associate Body mass index rs1557765-C of NONHSAT018228.2 is significantly associated with the body mass index by using GWAS analysis in up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals(p-value = 2E-6 ;OR = 0.015). 0.4 Genetic studies of body mass index yield new insights for obesity biology. NCRV0000003089 27989323 NONHSAT212681.1 rs143319329 C N/A 3,309 finnish ancestry individuals EFO_0005140 N/A Associate Interleukin-1-beta levels rs143319329-C of NONHSAT212681.1 is significantly associated with the interleukin-1-beta levels by using GWAS analysis in 3,309 finnish ancestry individuals(p-value = 2E-6 ;OR = 0.2801). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. NCRV0000001607 27992413 NONHSAT033321.2 rs61954180 C N/A 2,871 european ancestry cases//12,019 european ancestry controls; 1,925 european ancestry cases//7,936 european ancestry controls EFO_0004268 N/A Associate Primary sclerosing cholangitis rs61954180-C of NONHSAT033321.2 is significantly associated with the primary sclerosing cholangitis by using GWAS analysis in 2,871 european ancestry cases//12,019 european ancestry controls; 1,925 european ancestry cases//7,936 european ancestry controls(p-value = 2E-6 ;OR = 1.21). 0.4 Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease. NCRV0000001680 22171074 NONHSAT215498.1 rs328 ? N/A 1,999 han chinese ancestry male individuals; 1,496 han chinese ancestry male individuals EFO_0000319 N/A Associate Triglycerides rs328-? of NONHSAT215498.1 is significantly associated with the triglycerides by using GWAS analysis in 1,999 han chinese ancestry male individuals; 1,496 han chinese ancestry male individuals(p-value = 1E-9 ;OR = ?). 0.4 A genome-wide association and gene-environment interaction study for serum triglycerides levels in a healthy Chinese male population. NCRV0000002552 27416945 NONHSAT164771.1 rs10506418 A N/A 16,753 european ancestry individuals; 13,354 european ancestry individuals EFO_0001360 BMI interaction Associate Modified stumvoll insulin sensitivity index (bmi interaction) rs10506418-A of NONHSAT164771.1 is significantly associated with the modified stumvoll insulin sensitivity index (bmi interaction) by using GWAS analysis in 16,753 european ancestry individuals; 13,354 european ancestry individuals(p-value = 2E-8 ;OR = 0.0261). 0.4 Genome-Wide Association Study of the Modified Stumvoll Insulin Sensitivity Index Identifies BCL2 and FAM19A2 as Novel Insulin Sensitivity Loci. NCRV0000003309 28448500 NONHSAT121628.2 rs2245368 C N/A 561 african american women//352 filipino ancestry women//725 indian ancestry women//19,366 european ancestry women//251 african american men//4,654 indian ancestry men//11,727 european ancestry men//959 european ancestry individuals; 1,437 african american women//5,184 european ancestry women//64 african american men//5,416 european ancestry men EFO_0001073 joint analysis main effects and smoking interaction Associate Body mass index in physically inactive individuals rs2245368-C of NONHSAT121628.2 is significantly associated with the body mass index in physically inactive individuals by using GWAS analysis in 561 african american women//352 filipino ancestry women//725 indian ancestry women//19,366 european ancestry women//251 african american men//4,654 indian ancestry men//11,727 european ancestry men//959 european ancestry individuals; 1,437 african american women//5,184 european ancestry women//64 african american men//5,416 european ancestry men(p-value = 6E-6 ;OR = 0.0586). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. NCRV0000002683 23393555 NONHSAT126972.2 rs6472155 A N/A 19,411 european ancestry individuals EFO_0003839 N/A Associate Retinopathy in non-diabetics rs6472155-A of NONHSAT126972.2 is significantly associated with the retinopathy in non-diabetics by using GWAS analysis in 19,411 european ancestry individuals(p-value = 4E-6 ;OR = 0.23). 0.4 Genome-wide association study of retinopathy in individuals without diabetes. NCRV0000001236 27863252 NONHSAT031256.2 rs2255531 A N/A 166,066 european ancestry individuals EFO_0004309 N/A Associate Platelet count rs2255531-A of NONHSAT031256.2 is significantly associated with the platelet count by using GWAS analysis in 166,066 european ancestry individuals(p-value = 3E-10 ;OR = 0.02417885). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003130 29064472 NONHSAT208721.1 rs15300 G N/A 114 african ancestry schizophrenia cases//69 african schizo-affective cases//41 african ancestry bipolar disorder cases//76 african ancestry controls//116 european ancestry schizophrenia cases//86 european ancestry schizo-affective cases//165 european ancestry bipolar disorder cases//182 european ancestry controls EFO_0005407 N/A Associate Pursuit maintenance gain rs15300-G of NONHSAT208721.1 is significantly associated with the pursuit maintenance gain by using GWAS analysis in 114 african ancestry schizophrenia cases//69 african schizo-affective cases//41 african ancestry bipolar disorder cases//76 african ancestry controls//116 european ancestry schizophrenia cases//86 european ancestry schizo-affective cases//165 european ancestry bipolar disorder cases//182 european ancestry controls(p-value = 2E-7 ;OR = ?). 0.4 Genome-wide association studies of smooth pursuit and antisaccade eye movements in psychotic disorders: findings from the B-SNIP study. NCRV0000000151 27863252 NONHSAT152720.1 rs12239179 T N/A 170,761 european ancestry individuals EFO_0007986 N/A Associate High light scatter reticulocyte count rs12239179-T of NONHSAT152720.1 is significantly associated with the high light scatter reticulocyte count by using GWAS analysis in 170,761 european ancestry individuals(p-value = 4E-13 ;OR = 0.03016017). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003764 17903294 NONHSAT151447.1 rs9253 ? N/A up to 1,062 european ancestry individuals EFO_0004305 N/A Associate Hemostatic factors and hematological phenotypes rs9253-? of NONHSAT151447.1 is significantly associated with the hemostatic factors and hematological phenotypes by using GWAS analysis in up to 1,062 european ancestry individuals(p-value = 4E-6 ;OR = ?). 0.4 Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study. NCRV0000000606 27863252 NONHSAT171074.1 rs34483751 A N/A 170,763 european ancestry individuals EFO_0007986 N/A Associate High light scatter reticulocyte count rs34483751-A of NONHSAT171074.1 is significantly associated with the high light scatter reticulocyte count by using GWAS analysis in 170,763 european ancestry individuals(p-value = 8E-12 ;OR = 0.02586678). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003115 29213071 NONHSAT150028.1 rs1320977 A N/A 15,997 hispanic/latino individuals EFO_0004278 N/A Associate Qt interval rs1320977-A of NONHSAT150028.1 is significantly associated with the qt interval by using GWAS analysis in 15,997 hispanic/latino individuals(p-value = 3E-15 ;OR = 2.3). 0.4 GWAS of the electrocardiographic QT interval in Hispanics/Latinos generalizes previously identified loci and identifies population-specific signals. NCRV0000000906 21300955 NONHSAT206338.1 rs4705952 G N/A 63,678 european ancestry individuals 1,792 erasmus ruchpen individuals//715 orcadian individuals; 16,540 european ancestry individuals EFO_0000195 N/A Associate C-reactive protein levels rs4705952-G of NONHSAT206338.1 is significantly associated with the c-reactive protein levels by using GWAS analysis in 63,678 european ancestry individuals 1,792 erasmus ruchpen individuals//715 orcadian individuals; 16,540 european ancestry individuals(p-value = 1E-8 ;OR = 0.042). 0.4 Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels. NCRV0000000634 28540026 NONHSAT177845.1 rs72934570 ? N/A schizophrenia cases and controls (see ripke//2014)cases//up to 1,190 controls EFO_0000692 N/A Associate Schizophrenia rs72934570-? of NONHSAT177845.1 is significantly associated with the schizophrenia by using GWAS analysis in schizophrenia cases and controls (see ripke//2014)cases//up to 1,190 controls(p-value = 1E-9 ;OR = 1.1235955). 0.4 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. NCRV0000002466 23945395 NONHSAT224320.1 rs5945326 A N/A 5,976 japanese ancestry cases//20,829 japanese ancestry controls; 24,416 east asian ancestry cases//13,985 east asian ancestry controls EFO_0001360 N/A Associate Type 2 diabetes rs5945326-A of NONHSAT224320.1 is significantly associated with the type 2 diabetes by using GWAS analysis in 5,976 japanese ancestry cases//20,829 japanese ancestry controls; 24,416 east asian ancestry cases//13,985 east asian ancestry controls(p-value = 2E-12 ;OR = 1.14). 0.4 Genome-wide association study identifies three novel loci for type 2 diabetes. NCRV0000003068 26634245 NONHSAT198812.1 rs1812329 A N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs1812329-A of NONHSAT198812.1 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 1E-12 ;OR = 0.062). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000000928 27863252 NONHSAT163205.1 rs12820863 T N/A 171,771 european ancestry individuals EFO_0009389 N/A Associate Sum eosinophil basophil counts rs12820863-T of NONHSAT163205.1 is significantly associated with the sum eosinophil basophil counts by using GWAS analysis in 171,771 european ancestry individuals(p-value = 9E-11 ;OR = 0.02513112). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000098 27694959 NONHSAT058426.2 rs113062739 A N/A 984 european ancestry individuals; 530 european ancestry individuals EFO_0007874 N/A Associate Gut microbiota (functional units) rs113062739-A of NONHSAT058426.2 is significantly associated with the gut microbiota (functional units) by using GWAS analysis in 984 european ancestry individuals; 530 european ancestry individuals(p-value = 3E-8 ;OR = 5.535196). 0.4 The effect of host genetics on the gut microbiome. NCRV0000000814 28270201 NONHSAT170981.1 rs751156121 G N/A 19,695 british ancestry individuals from 6863 families. EFO_0007788 N/A Associate Waist-to-hip ratio adjusted for body mass index rs751156121-G of NONHSAT170981.1 is significantly associated with the waist-to-hip ratio adjusted for body mass index by using GWAS analysis in 19,695 british ancestry individuals from 6863 families.(p-value = 1E-8 ;OR = 1.4202151). 0.4 Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants. NCRV0000003579 23563607 NONHSAT201188.1 rs13130484 T N/A 93,015 european ancestry overweight individuals//32,858 european ancestry class i obese individuals//9,889 european ancestry class ii obese individuals//2,896 european ancestry class iii obese individuals//up to 65,840 european ancestry controls; 65,332 european ancestry overweight individuals//22,373 european ancestry class i obese individuals//5,476 european ancestry class ii obese individuals//1,162 european ancestry class iii obese individuals//up to 39,294 european ancestry controls EFO_0001073 N/A Associate Obesity rs13130484-T of NONHSAT201188.1 is significantly associated with the obesity by using GWAS analysis in 93,015 european ancestry overweight individuals//32,858 european ancestry class i obese individuals//9,889 european ancestry class ii obese individuals//2,896 european ancestry class iii obese individuals//up to 65,840 european ancestry controls; 65,332 european ancestry overweight individuals//22,373 european ancestry class i obese individuals//5,476 european ancestry class ii obese individuals//1,162 european ancestry class iii obese individuals//up to 39,294 european ancestry controls(p-value = 3E-18 ;OR = 1.14). 0.4 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. NCRV0000003424 28443625 NONHSAT208090.1 rs13201877 A N/A 98,173 european ancestry women//64,373 european ancestry men//5,829 european ancestry individuals//10,500 african american/afro-caribbean ancestry women//2,706 african american/afro-caribbean ancestry men//1,030 indian asian ancestry women//7,648 indian asian ancestry men//1,793 filipino ancestry women//2,944 hispanic/latino ancestry women//1,764 hispanic/latino ancestry men; 21,496 european ancestry women//24,385 european ancestry men//118,364 european ancestry individuals//2,326 african american/afro-caribbean ancestry women//855 african american/afro-caribbean ancestry men EFO_0001073 adjusted for smoking behaviour Associate Bmi (adjusted for smoking behaviour) rs13201877-A of NONHSAT208090.1 is significantly associated with the bmi (adjusted for smoking behaviour) by using GWAS analysis in 98,173 european ancestry women//64,373 european ancestry men//5,829 european ancestry individuals//10,500 african american/afro-caribbean ancestry women//2,706 african american/afro-caribbean ancestry men//1,030 indian asian ancestry women//7,648 indian asian ancestry men//1,793 filipino ancestry women//2,944 hispanic/latino ancestry women//1,764 hispanic/latino ancestry men; 21,496 european ancestry women//24,385 european ancestry men//118,364 european ancestry individuals//2,326 african american/afro-caribbean ancestry women//855 african american/afro-caribbean ancestry men(p-value = 5E-6 ;OR = 0.0221). 0.4 Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. NCRV0000003658 19060910 NONHSAT172154.1 rs2624265 G N/A 4,763 northern finnish founder individuals EFO_0004530 N/A Associate Metabolic traits rs2624265-G of NONHSAT172154.1 is significantly associated with the metabolic traits by using GWAS analysis in 4,763 northern finnish founder individuals(p-value = 4E-7 ;OR = 0.07). 0.4 Genome-wide association analysis of metabolic traits in a birth cohort from a founder population. NCRV0000002229 28869590 NONHSAT017523.2 rs231362 G N/A 6,353 south asian ancestry cases//7,179 south asian ancestry controls//3,871 european ancestry cases//16,427 european ancestry controls//34,840 cases//114,981 controls; 7,888 south asian ancestry cases//20,679 south asian ancestry controls//387 european ancestry cases//2,092 european ancestry controls//19,998 east asian ancestry cases//30,983 east asian ancestry controls EFO_0001360 N/A Associate Type 2 diabetes rs231362-G of NONHSAT017523.2 is significantly associated with the type 2 diabetes by using GWAS analysis in 6,353 south asian ancestry cases//7,179 south asian ancestry controls//3,871 european ancestry cases//16,427 european ancestry controls//34,840 cases//114,981 controls; 7,888 south asian ancestry cases//20,679 south asian ancestry controls//387 european ancestry cases//2,092 european ancestry controls//19,998 east asian ancestry cases//30,983 east asian ancestry controls(p-value = 2E-11 ;OR = 0.064). 0.4 Identification of new susceptibility loci for type 2 diabetes and shared etiological pathways with coronary heart disease. NCRV0000002971 20453842 NONHSAT155025.1 rs4750316 G N/A 5,539 european ancestry cases//20,169 european ancestry controls; 6,768 european ancestry cases//8,806 european ancestry controls EFO_0000685 N/A Associate Rheumatoid arthritis rs4750316-G of NONHSAT155025.1 is significantly associated with the rheumatoid arthritis by using GWAS analysis in 5,539 european ancestry cases//20,169 european ancestry controls; 6,768 european ancestry cases//8,806 european ancestry controls(p-value = 2E-6 ;OR = 1.15). 0.4 Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. NCRV0000002717 28240269 NONHSAT176909.1 rs9904601 A N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008046 N/A Associate Blood protein levels rs9904601-A of NONHSAT176909.1 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 2E-43 ;OR = 0.8634). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. NCRV0000003498 21738480 NONHSAT197521.1 rs4328821 A N/A 19,509 european ancestry individuals; 11,823 european ancestry individuals EFO_0005090 N/A Associate White blood cell count rs4328821-A of NONHSAT197521.1 is significantly associated with the white blood cell count by using GWAS analysis in 19,509 european ancestry individuals; 11,823 european ancestry individuals(p-value = 4E-13 ;OR = 0.01). 0.4 Multiple loci are associated with white blood cell phenotypes. NCRV0000002947 28644415 NONHSAT167326.1 rs17338417 ? N/A 141 individuals EFO_0008111 N/A Associate Prudent dietary pattern rs17338417-? of NONHSAT167326.1 is significantly associated with the prudent dietary pattern by using GWAS analysis in 141 individuals(p-value = 2E-6 ;OR = ?). 0.4 Genome-Wide Association Study of Dietary Pattern Scores.LID - E649 [pii]LID - 10.3390/nu9070649 [doi]AB - Dietary patterns, representing global food supplies rather than specific nutrients or food intakes, have been associated with cardiovascul NCRV0000000063 24159190 NONHSAT161564.1 rs116875324 T N/A 5110 european ancestry individuals EFO_0005418 N/A Associate Symmetrical dimethylarginine levels rs116875324-T of NONHSAT161564.1 is significantly associated with the symmetrical dimethylarginine levels by using GWAS analysis in 5110 european ancestry individuals(p-value = 9E-6 ;OR = 0.229). 0.4 Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality. NCRV0000003883 23128233 NONHSAT003779.2 rs11209026 G N/A 12,924 european ancestry cases//21,442 european ancestry controls; 25,683 european ancestry cases//17,015 european ancestry controls EFO_0003767 N/A Associate Inflammatory bowel disease rs11209026-G of NONHSAT003779.2 is significantly associated with the inflammatory bowel disease by using GWAS analysis in 12,924 european ancestry cases//21,442 european ancestry controls; 25,683 european ancestry cases//17,015 european ancestry controls(p-value = 8E-161 ;OR = 2.013). 0.4 Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. NCRV0000003759 25461247 NONHSAT056320.2 rs1663189 T N/A up to 737 european ancestry individuals//up to 545 black individuals//up to 314 hispanic individuals EFO_0000180 N/A Associate Response to efavirenz-containing treatment in hiv 1 infection (virologic failure) rs1663189-T of NONHSAT056320.2 is significantly associated with the response to efavirenz-containing treatment in hiv 1 infection (virologic failure) by using GWAS analysis in up to 737 european ancestry individuals//up to 545 black individuals//up to 314 hispanic individuals(p-value = 6E-6 ;OR = 1.79). 0.4 Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols. NCRV0000003786 26634245 NONHSAT198812.1 rs2869966 T N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs2869966-T of NONHSAT198812.1 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 1E-12 ;OR = 0.062). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000002058 22704111 NONHSAT075516.2 rs836589 A N/A 125 european ancestry cases//403 european ancestry controls EFO_0004234 N/A Associate Erectile dysfunction in type 1 diabetes rs836589-A of NONHSAT075516.2 is significantly associated with the erectile dysfunction in type 1 diabetes by using GWAS analysis in 125 european ancestry cases//403 european ancestry controls(p-value = 2E-6 ;OR = ?). 0.4 Pilot genome-wide association search identifies potential loci for risk of erectile dysfunction in type 1 diabetes using the DCCT/EDIC study cohort. NCRV0000002588 23241943 NONHSAT159467.1 rs7395555 C N/A up to 421 european ancestry schizophrenia cases//up to 214 african american individuals//up to 103 individuals GO_0097337 N/A Associate Response to antipsychotic treatment rs7395555-C of NONHSAT159467.1 is significantly associated with the response to antipsychotic treatment by using GWAS analysis in up to 421 european ancestry schizophrenia cases//up to 214 african american individuals//up to 103 individuals(p-value = 2E-7 ;OR = ?). 0.4 Genome-wide association study of patient-rated and clinician-rated global impression of severity during antipsychotic treatment. NCRV0000002773 27863252 NONHSAT192562.1 rs138857 T N/A 164,454 european ancestry individuals EFO_0004584 N/A Associate Mean platelet volume rs138857-T of NONHSAT192562.1 is significantly associated with the mean platelet volume by using GWAS analysis in 164,454 european ancestry individuals(p-value = 4E-10 ;OR = 0.02849005). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003886 27863252 NONHSAT108610.2 rs1264622 T N/A 170,548 european ancestry individuals EFO_0007986 N/A Associate Immature fraction of reticulocytes rs1264622-T of NONHSAT108610.2 is significantly associated with the immature fraction of reticulocytes by using GWAS analysis in 170,548 european ancestry individuals(p-value = 4E-13 ;OR = 0.03202955). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003633 23382691 NONHSAT189389.1 rs2077147 C N/A 2,247 european ancestry individuals EFO_0002690 N/A Associate Igg glycosylation rs2077147-C of NONHSAT189389.1 is significantly associated with the igg glycosylation by using GWAS analysis in 2,247 european ancestry individuals(p-value = 3E-6 ;OR = 0.1568). 0.4 Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. NCRV0000001977 24986923 NONHSAT164834.1 rs73329476 T N/A 202 han chinese ancestry cases//198 han chinese ancestry controls; 490 han chinese ancestry cases//541 han chinese ancestry controls Orphanet_182098 silica exposure Associate Pneumoconiosis in silica exposure rs73329476-T of NONHSAT164834.1 is significantly associated with the pneumoconiosis in silica exposure by using GWAS analysis in 202 han chinese ancestry cases//198 han chinese ancestry controls; 490 han chinese ancestry cases//541 han chinese ancestry controls(p-value = 2E-8 ;OR = 2.17). 0.4 A genome-wide association study identifies susceptibility loci of silica-related pneumoconiosis in Han Chinese. NCRV0000000334 27723756 NONHSAT195086.1 rs7646786 T N/A 1,812 european ancestry individuals EFO_0007874 bacterial taxa Associate Gut microbiota (bacterial taxa) rs7646786-T of NONHSAT195086.1 is significantly associated with the gut microbiota (bacterial taxa) by using GWAS analysis in 1,812 european ancestry individuals(p-value = 2E-8 ;OR = 0.22). 0.4 Genome-wide association analysis identifies variation in vitamin D receptor and other host factors influencing the gut microbiota. NCRV0000002942 23761726 NONHSAT116202.2 rs438465 C N/A 2,784 european ancestry individuals; HP_0000483 N/A Associate Corneal astigmatism rs438465-C of NONHSAT116202.2 is significantly associated with the corneal astigmatism by using GWAS analysis in 2,784 european ancestry individuals; (p-value = 7E-6 ;OR = 0.173). 0.4 Interrogation of the platelet-derived growth factor receptor alpha locus and corneal astigmatism in Australians of Northern European ancestry: results of a genome-wide association study. NCRV0000003053 28739976 NONHSAT215426.1 rs2898290 C N/A 150,134 european ancestry individuals; 87,359 european ancestry individuals//140,886 european and unknown ancestry individuals EFO_0000319 N/A Associate Systolic blood pressure rs2898290-C of NONHSAT215426.1 is significantly associated with the systolic blood pressure by using GWAS analysis in 150,134 european ancestry individuals; 87,359 european ancestry individuals//140,886 european and unknown ancestry individuals(p-value = 6E-8 ;OR = 0.39). 0.4 Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.LID - HYPERTENSIONAHA.117.09438 [pii]LID - 10.1161/HYPERTENSIONAHA.117.09438 [doi]AB - Elevated blood pressure NCRV0000001429 28604730 NONHSAT216414.1 rs2608029 G N/A 11,273 european ancestry cases// 55,483 european ancestry controls EFO_0000571 N/A Associate Lung adenocarcinoma rs2608029-G of NONHSAT216414.1 is significantly associated with the lung adenocarcinoma by using GWAS analysis in 11,273 european ancestry cases// 55,483 european ancestry controls(p-value = 1E-6 ;OR = 1.0843331). 0.4 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. NCRV0000002843 28429243 NONHSAT161941.1 rs4149056 C N/A 707 european ancestry postmenopausal cases//52 african ancestry postmenopausal cases//15 asian ancestry postmenopausal cases EFO_0007971 N/A Associate Plasma estrone conjugates levels in resected early stage estrogen-receptor positive breast cancer rs4149056-C of NONHSAT161941.1 is significantly associated with the plasma estrone conjugates levels in resected early stage estrogen-receptor positive breast cancer by using GWAS analysis in 707 european ancestry postmenopausal cases//52 african ancestry postmenopausal cases//15 asian ancestry postmenopausal cases(p-value = 4E-11 ;OR = 0.5). 0.4 SLCO1B1 polymorphisms and plasma estrone conjugates in postmenopausal women with ER+ breast cancer: genome-wide association studies of the estrone pathway. NCRV0000002230 23535729 NONHSAT164418.1 rs12422552 C N/A 10,052 european ancestry cases//12,575 european ancestry controls; 45,290 european ancestry cases//41,880 european ancestry controls EFO_0000305 N/A Associate Breast cancer rs12422552-C of NONHSAT164418.1 is significantly associated with the breast cancer by using GWAS analysis in 10,052 european ancestry cases//12,575 european ancestry controls; 45,290 european ancestry cases//41,880 european ancestry controls(p-value = 4E-8 ;OR = 1.05). 0.4 Large-scale genotyping identifies 41 new loci associated with breast cancer risk. NCRV0000003713 21998595 NONHSAT183548.1 rs2553026 A N/A 20,427 african ancestry individuals; up to 16,436 african american individuals EFO_0004339 N/A Associate Height rs2553026-A of NONHSAT183548.1 is significantly associated with the height by using GWAS analysis in 20,427 african ancestry individuals; up to 16,436 african american individuals(p-value = 6E-8 ;OR = 0.056). 0.4 Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry. NCRV0000003209 28540026 NONHSAT187912.1 rs59979824 ? N/A schizophrenia cases and controls (see ripke//2014)cases//up to 1,190 controls EFO_0000692 N/A Associate Schizophrenia rs59979824-? of NONHSAT187912.1 is significantly associated with the schizophrenia by using GWAS analysis in schizophrenia cases and controls (see ripke//2014)cases//up to 1,190 controls(p-value = 6E-9 ;OR = 1.0638298). 0.4 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. NCRV0000003150 23400010 NONHSAT176545.1 rs11077614 G N/A 425 european ancestry cases//342 african american cases EFO_0000537 Thiazide-induced Associate Thiazide-induced adverse metabolic effects in hypertensive patients rs11077614-G of NONHSAT176545.1 is significantly associated with the thiazide-induced adverse metabolic effects in hypertensive patients by using GWAS analysis in 425 european ancestry cases//342 african american cases(p-value = 3E-6 ;OR = 3.25). 0.4 Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans. NCRV0000000688 27989323 NONHSAT157804.1 rs75697268 C N/A 8,243 finnish ancestry individuals EFO_0005140 N/A Associate Macrophage inflammatory protein 1b levels rs75697268-C of NONHSAT157804.1 is significantly associated with the macrophage inflammatory protein 1b levels by using GWAS analysis in 8,243 finnish ancestry individuals(p-value = 7E-6 ;OR = 0.4675). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. NCRV0000000371 27863252 NONHSAT206588.1 rs55713716 A N/A 171,771 european ancestry individuals EFO_0009389 N/A Associate Sum eosinophil basophil counts rs55713716-A of NONHSAT206588.1 is significantly associated with the sum eosinophil basophil counts by using GWAS analysis in 171,771 european ancestry individuals(p-value = 3E-21 ;OR = 0.0474782). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000497 21533024 NONHSAT061043.2 rs5498 G N/A 22,435 european ancestry female individuals; 9,813 individuals HP_0001658 N/A Associate Soluble icam-1 rs5498-G of NONHSAT061043.2 is significantly associated with the soluble icam-1 by using GWAS analysis in 22,435 european ancestry female individuals; 9,813 individuals(p-value = 6E-89 ;OR = 13.8). 0.4 Genome-wide association analysis of soluble ICAM-1 concentration reveals novel associations at the NFKBIK, PNPLA3, RELA, and SH2B3 loci. NCRV0000001314 24954895 NONHSAT029820.2 rs4842666 T N/A 55,796 european ancestry individuals; 43,445 european ancestry individuals//1,849 chinese ancestry individuals//2,502 malay ancestry individuals//2,476 asian indian ancestry individuals//1,855 asian ancestry individuals EFO_0004325 N/A Associate Blood pressure rs4842666-T of NONHSAT029820.2 is significantly associated with the blood pressure by using GWAS analysis in 55,796 european ancestry individuals; 43,445 european ancestry individuals//1,849 chinese ancestry individuals//2,502 malay ancestry individuals//2,476 asian indian ancestry individuals//1,855 asian ancestry individuals(p-value = 2E-7 ;OR = 0.91). 0.4 Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia. NCRV0000002054 27126917 NONHSAT210379.1 rs114683528 T N/A 874 european ancestry individuals EFO_0007828 N/A Associate Daytime sleep phenotypes rs114683528-T of NONHSAT210379.1 is significantly associated with the daytime sleep phenotypes by using GWAS analysis in 874 european ancestry individuals(p-value = 1E-6 ;OR = 2.435). 0.4 Genome-wide association analysis of actigraphic sleep phenotypes in the LIFE Adult Study. NCRV0000003702 26265036 NONHSAT211871.1 rs245880 A N/A 180 low dose brazilian ancestry individuals//187 high dose brazilian ancestry individuals; 798 european ancestry individuals//1611 japanese ancestry individuals//191 african american individuals GO_0061476 N/A Associate Warfarin maintenance dose rs245880-A of NONHSAT211871.1 is significantly associated with the warfarin maintenance dose by using GWAS analysis in 180 low dose brazilian ancestry individuals//187 high dose brazilian ancestry individuals; 798 european ancestry individuals//1611 japanese ancestry individuals//191 african american individuals(p-value = 8E-6 ;OR = 4.6948357). 0.4 Genome-wide association study of warfarin maintenance dose in a Brazilian sample. NCRV0000000074 26192919 NONHSAT206871.1 rs17119 A N/A 12,882 european ancestry cases//21,770 european ancestry controls; 25,273 european ancestry cases//26,715 european ancestry controls//548 iranian ancestry cases//342 iranian ancestry control//1,423 indian ancestry cases//990 indian ancestry controls//2,824 east asian ancestry cases//3,719 east asian ancestry controls EFO_0003767 N/A Associate Inflammatory bowel disease rs17119-A of NONHSAT206871.1 is significantly associated with the inflammatory bowel disease by using GWAS analysis in 12,882 european ancestry cases//21,770 european ancestry controls; 25,273 european ancestry cases//26,715 european ancestry controls//548 iranian ancestry cases//342 iranian ancestry control//1,423 indian ancestry cases//990 indian ancestry controls//2,824 east asian ancestry cases//3,719 east asian ancestry controls(p-value = 2E-11 ;OR = 1.0868671). 0.4 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. NCRV0000001157 23903356 NONHSAT082239.2 rs6517656 G N/A 1,367 european ancestry individuals//817 hispanic individuals//1,075 afro-caribbean individuals//1,178 thai ancestry individuals; 2,798 european ancestry individuals//228 french canadian founder population individuals EFO_0005187 N/A Associate Glycemic traits (pregnancy) rs6517656-G of NONHSAT082239.2 is significantly associated with the glycemic traits (pregnancy) by using GWAS analysis in 1,367 european ancestry individuals//817 hispanic individuals//1,075 afro-caribbean individuals//1,178 thai ancestry individuals; 2,798 european ancestry individuals//228 french canadian founder population individuals(p-value = 6E-16 ;OR = 0.0402). 0.4 Identification of HKDC1 and BACE2 as genes influencing glycemic traits during pregnancy through genome-wide association studies. NCRV0000001280 28240269 NONHSAT176909.1 rs9904601 A N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008051 N/A Associate Blood protein levels rs9904601-A of NONHSAT176909.1 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 1E-17 ;OR = 0.5713). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. NCRV0000000499 26634245 NONHSAT168270.1 rs146750542 A N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs146750542-A of NONHSAT168270.1 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 3E-6 ;OR = 0.214). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000001035 28604730 NONHSAT176539.1 rs17181550 T N/A 29,266 european ancestry cases//56,450 european ancestry controls EFO_0001071 N/A Associate Lung cancer rs17181550-T of NONHSAT176539.1 is significantly associated with the lung cancer by using GWAS analysis in 29,266 european ancestry cases//56,450 european ancestry controls(p-value = 2E-7 ;OR = 1.0639783). 0.4 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. NCRV0000003667 20889312 NONHSAT087043.2 rs134882 ? N/A 651 european ancestry bipolar cases//1,171 european ancestry schizophrenia cases//2,412 european ancestry controls EFO_0000677 N/A Associate Bipolar disorder and schizophrenia rs134882-? of NONHSAT087043.2 is significantly associated with the bipolar disorder and schizophrenia by using GWAS analysis in 651 european ancestry bipolar cases//1,171 european ancestry schizophrenia cases//2,412 european ancestry controls(p-value = 7E-6 ;OR = 1.2196). 0.4 A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. NCRV0000000087 22306654 NONHSAT209698.1 rs1208285 C N/A 1,001 european ancestry cases//2,401 european ancestry controls; 796 european ancestry cases//876 european ancestry controls EFO_0004707 N/A Associate Infantile hypertrophic pyloric stenosis rs1208285-C of NONHSAT209698.1 is significantly associated with the infantile hypertrophic pyloric stenosis by using GWAS analysis in 1,001 european ancestry cases//2,401 european ancestry controls; 796 european ancestry cases//876 european ancestry controls(p-value = 6E-7 ;OR = 1.25). 0.4 Common variants near MBNL1 and NKX2-5 are associated with infantile hypertrophic pyloric stenosis. NCRV0000000528 28441456 NONHSAT164685.1 rs142871661 T N/A 2,187 european ancestry individuals EFO_0007843 N/A Associate Facial morphology (factor 21//depth of nasal alae) rs142871661-T of NONHSAT164685.1 is significantly associated with the facial morphology (factor 21//depth of nasal alae) by using GWAS analysis in 2,187 european ancestry individuals(p-value = 3E-6 ;OR = 0.438). 0.4 Genome-wide association study of facial morphology reveals novel associations with FREM1 and PARK2. NCRV0000001078 21768215 NONHSAT022024.2 rs606458 T N/A 8,651 african american individuals; 1,996 african american individuals EFO_0004531 N/A Associate Urate levels rs606458-T of NONHSAT022024.2 is significantly associated with the urate levels by using GWAS analysis in 8,651 african american individuals; 1,996 african american individuals(p-value = 6E-11 ;OR = 0.18). 0.4 Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele. NCRV0000001844 28232668 NONHSAT192873.1 rs5756130 A N/A 2,033 han chinese ancestry cases//4,051 han chinese ancestry controls; 1,346 han chinese ancestry cases//4,542 han chinese ancestry controls EFO_0003959 N/A Associate Nonsyndromic cleft lip with cleft palate rs5756130-A of NONHSAT192873.1 is significantly associated with the nonsyndromic cleft lip with cleft palate by using GWAS analysis in 2,033 han chinese ancestry cases//4,051 han chinese ancestry controls; 1,346 han chinese ancestry cases//4,542 han chinese ancestry controls(p-value = 6E-6 ;OR = 1.21). 0.4 Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity. NCRV0000001692 20189936 NONHSAT167922.1 rs8002779 A N/A 19,633 japanese ancestry individuals EFO_0004339 N/A Associate Height rs8002779-A of NONHSAT167922.1 is significantly associated with the height by using GWAS analysis in 19,633 japanese ancestry individuals(p-value = 3E-6 ;OR = 0.05). 0.4 A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci. NCRV0000003959 26377243 NONHSAT211318.1 rs9406316 C N/A 2,895 african american individuals EFO_0000319 N/A Associate Lipoprotein (a) levels rs9406316-C of NONHSAT211318.1 is significantly associated with the lipoprotein (a) levels by using GWAS analysis in 2,895 african american individuals(p-value = 1E-9 ;OR = 0.17). 0.4 Genome- and exome-wide association study of serum lipoprotein (a) in the Jackson Heart Study. NCRV0000002294 23284291 NONHSAT198812.1 rs2869967 ? N/A 50,047 european ancestry individuals EFO_0003892 smoking interaction Associate Pulmonary function (smoking interaction) rs2869967-? of NONHSAT198812.1 is significantly associated with the pulmonary function (smoking interaction) by using GWAS analysis in 50,047 european ancestry individuals(p-value = 5E-11 ;OR = ?). 0.4 Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function. NCRV0000002005 27008869 NONHSAT053287.2 rs11651052 ? N/A 4,907 european ancestry cases//11,945 european ancestry controls EFO_1001512 N/A Associate Endometrial cancer rs11651052-? of NONHSAT053287.2 is significantly associated with the endometrial cancer by using GWAS analysis in 4,907 european ancestry cases//11,945 european ancestry controls(p-value = 1E-8 ;OR = 1.16). 0.4 GWAS meta-analysis of 16 852 women identifies new susceptibility locus for endometrial cancer. NCRV0000003485 26634245 NONHSAT023893.2 rs563096 A N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs563096-A of NONHSAT023893.2 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 2E-7 ;OR = 0.016). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000003338 19890347 NONHSAT116151.2 rs13208776 ? N/A 32 romanian founder cases//44 european ancestry controls EFO_0004208 N/A Associate Vitiligo rs13208776-? of NONHSAT116151.2 is significantly associated with the vitiligo by using GWAS analysis in 32 romanian founder cases//44 european ancestry controls(p-value = 9E-8 ;OR = ?). 0.4 Genome-wide association study of generalized vitiligo in an isolated European founder population identifies SMOC2, in close proximity to IDDM8. NCRV0000000925 22993228 NONHSAT210405.1 rs6457690 A N/A 4,683 european ancestry individuals EFO_0004994 N/A Associate Disc degeneration (lumbar) rs6457690-A of NONHSAT210405.1 is significantly associated with the disc degeneration (lumbar) by using GWAS analysis in 4,683 european ancestry individuals(p-value = 9E-8 ;OR = 0.19). 0.4 Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects. NCRV0000001796 26989097 NONHSAT196125.1 rs16823934 ? N/A up to 902 european ancestry cases//up to 78 cases EFO_0006788 N/A Associate Response to cognitive-behavioural therapy in anxiety disorder rs16823934-? of NONHSAT196125.1 is significantly associated with the response to cognitive-behavioural therapy in anxiety disorder by using GWAS analysis in up to 902 european ancestry cases//up to 78 cases(p-value = 6E-6 ;OR = ?). 0.4 Genome-wide association study of response to cognitive-behavioural therapy in children with anxiety disorders. NCRV0000002966 20676098 NONHSAT216393.1 rs1456315 ? N/A 1,583 japanese ancestry cases//3,386 japanese ancestry controls; 3,001 japanese ancestry cases//5,415 japanese ancestry controls EFO_0001663 N/A Associate Prostate cancer rs1456315-? of NONHSAT216393.1 is significantly associated with the prostate cancer by using GWAS analysis in 1,583 japanese ancestry cases//3,386 japanese ancestry controls; 3,001 japanese ancestry cases//5,415 japanese ancestry controls(p-value = 2E-29 ;OR = ?). 0.4 Genome-wide association study identifies five new susceptibility loci for prostate cancer in the Japanese population. NCRV0000001819 20700443 NONHSAT152363.1 rs4072037 C N/A 15,366 european ancestry individuals; 8,463 european ancestry individuals EFO_0004845 N/A Associate Magnesium levels rs4072037-C of NONHSAT152363.1 is significantly associated with the magnesium levels by using GWAS analysis in 15,366 european ancestry individuals; 8,463 european ancestry individuals(p-value = 2E-36 ;OR = 0.01). 0.4 Genome-wide association studies of serum magnesium, potassium, and sodium concentrations identify six Loci influencing serum magnesium levels.LID - 10.1371/journal.pgen.1001045 [doi]LID - e1001045 [pii]AB - Magnesium, potassium, and sodium, cat NCRV0000002218 27863252 NONHSAT108210.2 rs1799945 G N/A 173,039 european ancestry individuals EFO_0004348 N/A Associate Hematocrit rs1799945-G of NONHSAT108210.2 is significantly associated with the hematocrit by using GWAS analysis in 173,039 european ancestry individuals(p-value = 1E-41 ;OR = 0.06645191). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001991 23251661 NONHSAT199851.1 rs6834483 G N/A 815 hispanic children from 263 families EFO_0003940 N/A Associate Obesity-related traits rs6834483-G of NONHSAT199851.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 3E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. NCRV0000001846 27989323 NONHSAT188110.1 rs188592169 C N/A 8,293 finnish ancestry individuals EFO_0008264 N/A Associate Platelet-derived growth factor bb levels rs188592169-C of NONHSAT188110.1 is significantly associated with the platelet-derived growth factor bb levels by using GWAS analysis in 8,293 finnish ancestry individuals(p-value = 4E-7 ;OR = 0.2623). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. NCRV0000001043 28416822 NONHSAT198931.1 rs6843082 G N/A 8,180 japanese ancestry cases//28,612 japanese ancestry controls; 3,120 japanese ancestry cases//125,064 japanese ancestry controls//15,993 european ancestry cases//113,719 european ancestry controls EFO_0000275 N/A Associate Atrial fibrillation rs6843082-G of NONHSAT198931.1 is significantly associated with the atrial fibrillation by using GWAS analysis in 8,180 japanese ancestry cases//28,612 japanese ancestry controls; 3,120 japanese ancestry cases//125,064 japanese ancestry controls//15,993 european ancestry cases//113,719 european ancestry controls(p-value = 1E-126 ;OR = 1.842). 0.4 Identification of six new genetic loci associated with atrial fibrillation in the Japanese population. NCRV0000001913 22566634 NONHSAT192514.1 rs117294 C N/A 9,617 european ancestry individuals EFO_0004827 N/A Associate Economic and political preferences (fairness) rs117294-C of NONHSAT192514.1 is significantly associated with the economic and political preferences (fairness) by using GWAS analysis in 9,617 european ancestry individuals(p-value = 7E-6 ;OR = 0.11). 0.4 The genetic architecture of economic and political preferences. NCRV0000000886 27863252 NONHSAT167321.1 rs73579370 C N/A 171,643 european ancestry individuals EFO_0004587 N/A Associate Lymphocyte counts rs73579370-C of NONHSAT167321.1 is significantly associated with the lymphocyte counts by using GWAS analysis in 171,643 european ancestry individuals(p-value = 4E-10 ;OR = 0.02689215). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000751 17903293 NONHSAT114235.2 rs1417352 ? N/A 1,012 european ancestry individuals EFO_0004789 N/A Associate Select biomarker traits rs1417352-? of NONHSAT114235.2 is significantly associated with the select biomarker traits by using GWAS analysis in 1,012 european ancestry individuals(p-value = 2E-6 ;OR = ?). 0.4 Genome-wide association with select biomarker traits in the Framingham Heart Study. NCRV0000002173 25673413 NONHSAT112682.2 rs2033529 G N/A up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals EFO_0001073 N/A Associate Body mass index rs2033529-G of NONHSAT112682.2 is significantly associated with the body mass index by using GWAS analysis in up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals(p-value = 1E-8 ;OR = 0.018). 0.4 Genetic studies of body mass index yield new insights for obesity biology. NCRV0000000440 25130324 NONHSAT217844.1 rs4876199 T N/A 1,778 european ancestry individuals//1,276 individuals EFO_0005852 N/A Associate Heschl's gyrus morphology rs4876199-T of NONHSAT217844.1 is significantly associated with the heschl's gyrus morphology by using GWAS analysis in 1,778 european ancestry individuals//1,276 individuals(p-value = 4E-6 ;OR = 0.0515). 0.4 A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus. NCRV0000001610 24939585 NONHSAT207065.1 rs6904029 ? N/A 1,489 european ancestry individuals EFO_0005782 N/A Associate Age-related hearing impairment rs6904029-? of NONHSAT207065.1 is significantly associated with the age-related hearing impairment by using GWAS analysis in 1,489 european ancestry individuals(p-value = 3E-6 ;OR = 0.0464). 0.4 Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment. NCRV0000003654 28604730 NONHSAT184768.1 rs1039766 T N/A 29,266 european ancestry cases//56,450 european ancestry controls EFO_0001071 N/A Associate Lung cancer rs1039766-T of NONHSAT184768.1 is significantly associated with the lung cancer by using GWAS analysis in 29,266 european ancestry cases//56,450 european ancestry controls(p-value = 2E-6 ;OR = 1.0803672). 0.4 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. NCRV0000002413 21909108 NONHSAT179794.1 rs445925 G N/A up to 31,211 european ancestry individuals; 10,553 european ancestry individuals//687 orcadian individuals EFO_0003914 N/A Associate Carotid intima media thickness rs445925-G of NONHSAT179794.1 is significantly associated with the carotid intima media thickness by using GWAS analysis in up to 31,211 european ancestry individuals; 10,553 european ancestry individuals//687 orcadian individuals(p-value = 4E-6 ;OR = 1.22). 0.4 Meta-analysis of genome-wide association studies from the CHARGE consortium identifies common variants associated with carotid intima media thickness and plaque. NCRV0000001393 26198764 NONHSAT159668.1 rs2514218 C N/A 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls EFO_0000692 N/A Associate Schizophrenia rs2514218-C of NONHSAT159668.1 is significantly associated with the schizophrenia by using GWAS analysis in 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls(p-value = 2E-10 ;OR = 1.0752687). 0.4 Genome-wide association study of schizophrenia in Ashkenazi Jews. NCRV0000001750 27863252 NONHSAT167488.1 rs6563842 T N/A 172,378 european ancestry individuals EFO_0007991 N/A Associate Eosinophil percentage of white cells rs6563842-T of NONHSAT167488.1 is significantly associated with the eosinophil percentage of white cells by using GWAS analysis in 172,378 european ancestry individuals(p-value = 2E-15 ;OR = 0.0310048). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002776 26604143 NONHSAT186760.1 rs10182181 G N/A 34,744 european ancestry children; 11,313 european ancestry children EFO_0001073 N/A Associate Childhood body mass index rs10182181-G of NONHSAT186760.1 is significantly associated with the childhood body mass index by using GWAS analysis in 34,744 european ancestry children; 11,313 european ancestry children(p-value = 2E-21 ;OR = ?). 0.4 Genome-wide association analysis identifies three new susceptibility loci for childhood body mass index. NCRV0000002387 28928442 NONHSAT055010.2 rs8082454 ? N/A 38,219 european ancestry cases//47,279 european ancestry controls EFO_0008414 N/A Associate Measles rs8082454-? of NONHSAT055010.2 is significantly associated with the measles by using GWAS analysis in 38,219 european ancestry cases//47,279 european ancestry controls(p-value = 8E-6 ;OR = 0.1035). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. NCRV0000000372 28240269 NONHSAT159596.1 rs11568819 A N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008227 N/A Associate Blood protein levels rs11568819-A of NONHSAT159596.1 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 6E-14 ;OR = 0.6681). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. NCRV0000001212 27863252 NONHSAT167488.1 rs6563842 T N/A 170,536 european ancestry individuals EFO_0007996 N/A Associate Eosinophil percentage of granulocytes rs6563842-T of NONHSAT167488.1 is significantly associated with the eosinophil percentage of granulocytes by using GWAS analysis in 170,536 european ancestry individuals(p-value = 2E-10 ;OR = 0.02494378). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000126 22581228 NONHSAT215396.1 rs4841132 A N/A up to 58,074 european ancestry individuals; up tp 38,422 european ancestry individuals EFO_0001360 N/A Associate Fasting blood glucose rs4841132-A of NONHSAT215396.1 is significantly associated with the fasting blood glucose by using GWAS analysis in up to 58,074 european ancestry individuals; up tp 38,422 european ancestry individuals(p-value = 1E-13 ;OR = 0.0312). 0.4 A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance. NCRV0000001319 26980576 NONHSAT154193.1 rs6697139 ? N/A 93 korean ancestry responder cases//16 korean ancestry non-responder cases EFO_0002690 N/A Associate Response to cyclophosphamide in systemic lupus erythematosus with lupus nephritis rs6697139-? of NONHSAT154193.1 is significantly associated with the response to cyclophosphamide in systemic lupus erythematosus with lupus nephritis by using GWAS analysis in 93 korean ancestry responder cases//16 korean ancestry non-responder cases(p-value = 3E-8 ;OR = ?). 0.4 Response to Intravenous Cyclophosphamide Treatment for Lupus Nephritis Associated with Polymorphisms in the FCGR2B-FCRLA Locus. NCRV0000003730 27989323 NONHSAT186428.1 rs192586223 C N/A 3,421 finnish ancestry individuals EFO_0005140 N/A Associate Rantes levels rs192586223-C of NONHSAT186428.1 is significantly associated with the rantes levels by using GWAS analysis in 3,421 finnish ancestry individuals(p-value = 5E-6 ;OR = 0.6977). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. NCRV0000001586 23382691 NONHSAT124614.2 rs17666538 C N/A 2,247 european ancestry individuals EFO_0002690 N/A Associate Igg glycosylation rs17666538-C of NONHSAT124614.2 is significantly associated with the igg glycosylation by using GWAS analysis in 2,247 european ancestry individuals(p-value = 7E-6 ;OR = 0.2848). 0.4 Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. NCRV0000003845 27694959 NONHSAT188919.1 rs3088220 T N/A 984 european ancestry individuals; 530 european ancestry individuals EFO_0007874 N/A Associate Gut microbiota (functional units) rs3088220-T of NONHSAT188919.1 is significantly associated with the gut microbiota (functional units) by using GWAS analysis in 984 european ancestry individuals; 530 european ancestry individuals(p-value = 3E-9 ;OR = 5.951341). 0.4 The effect of host genetics on the gut microbiome. NCRV0000000675 25673413 NONHSAT151756.1 rs7551318 T N/A up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals EFO_0001073 N/A Associate Body mass index rs7551318-T of NONHSAT151756.1 is significantly associated with the body mass index by using GWAS analysis in up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals(p-value = 7E-7 ;OR = 0.062). 0.4 Genetic studies of body mass index yield new insights for obesity biology. NCRV0000003984 28334935 NONHSAT092201.2 rs8177248 C N/A 12,586 hispanic/latino individuals EFO_0006334 N/A Associate Iron status biomarkers (total iron binding capacity) rs8177248-C of NONHSAT092201.2 is significantly associated with the iron status biomarkers (total iron binding capacity) by using GWAS analysis in 12,586 hispanic/latino individuals(p-value = 4E-322 ;OR = 0.649). 0.4 Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation? NCRV0000002002 26785701 NONHSAT209963.1 rs368123 G N/A up to 44,609 east asian individuals; up to 25,553 east asian individuals//up to 230,044 individuals EFO_0004342 N/A Associate Waist circumference rs368123-G of NONHSAT209963.1 is significantly associated with the waist circumference by using GWAS analysis in up to 44,609 east asian individuals; up to 25,553 east asian individuals//up to 230,044 individuals(p-value = 3E-8 ;OR = 0.032). 0.4 Genome-wide association studies in East Asians identify new loci for waist-hip ratio and waist circumference. NCRV0000000909 29058716 NONHSAT215675.1 rs13365225 A N/A 14,135 european ancestry cases//58,126 european ancestry controls; 7,333 european ancestry cases//42,468 european ancestry controls EFO_1000650 N/A Associate Breast cancer (estrogen-receptor negative) rs13365225-A of NONHSAT215675.1 is significantly associated with the breast cancer (estrogen-receptor negative) by using GWAS analysis in 14,135 european ancestry cases//58,126 european ancestry controls; 7,333 european ancestry cases//42,468 european ancestry controls(p-value = 1E-10 ;OR = 1.1111112). 0.4 Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer. NCRV0000003231 19165918 NONHSAT201694.1 rs2313132 ? N/A 431 european ancestry cases//2,155 european ancestry controls; 447 european ancestry trios//293 trios EFO_0002690 N/A Associate Systemic lupus erythematosus rs2313132-? of NONHSAT201694.1 is significantly associated with the systemic lupus erythematosus by using GWAS analysis in 431 european ancestry cases//2,155 european ancestry controls; 447 european ancestry trios//293 trios(p-value = 8E-6 ;OR = ?). 0.4 Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus. NCRV0000000531 18239089 NONHSAT094660.2 rs3796619 T N/A 1,887 male individuals; 1,248 male individuals EFO_0004863 N/A Associate Recombination rate (males) rs3796619-T of NONHSAT094660.2 is significantly associated with the recombination rate (males) by using GWAS analysis in 1,887 male individuals; 1,248 male individuals(p-value = 3E-24 ;OR = 70.7). 0.4 Sequence variants in the RNF212 gene associate with genome-wide recombination rate. NCRV0000002789 28448500 NONHSAT210397.1 rs9378213 ? N/A 2,518 african american women//83,707 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//52,993 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men EFO_0007788 joint analysis for main effect and physical activity interaction Associate Waist-to-hip ratio adjusted for bmi (joint analysis for main effect and physical activity interaction) rs9378213-? of NONHSAT210397.1 is significantly associated with the waist-to-hip ratio adjusted for bmi (joint analysis for main effect and physical activity interaction) by using GWAS analysis in 2,518 african american women//83,707 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//52,993 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men(p-value = 1E-7 ;OR = ?). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. NCRV0000002900 19767754 NONHSAT159328.1 rs11228565 A N/A up to 1,968 european ancestry cases//35,382 european ancestry controls; up to 11,806 european ancestry cases//12,387 european ancestry controls EFO_0001663 N/A Associate Prostate cancer rs11228565-A of NONHSAT159328.1 is significantly associated with the prostate cancer by using GWAS analysis in up to 1,968 european ancestry cases//35,382 european ancestry controls; up to 11,806 european ancestry cases//12,387 european ancestry controls(p-value = 7E-12 ;OR = 1.23). 0.4 Genome-wide association and replication studies identify four variants associated with prostate cancer susceptibility. NCRV0000003375 26634245 NONHSAT197740.1 rs192376484 A N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs192376484-A of NONHSAT197740.1 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 5E-7 ;OR = 2.355). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000000944 28540026 NONHSAT206231.1 rs427691 A N/A up to 6,197 european ancestry asd cases//up to 7,377 european ancestry controls//up to 1,190 asd cases//up to 1,190 controls EFO_0003756 N/A Associate Autism spectrum disorder rs427691-A of NONHSAT206231.1 is significantly associated with the autism spectrum disorder by using GWAS analysis in up to 6,197 european ancestry asd cases//up to 7,377 european ancestry controls//up to 1,190 asd cases//up to 1,190 controls(p-value = 3E-8 ;OR = 1.06). 0.4 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. NCRV0000002584 24262325 NONHSAT159720.1 rs9326246 C N/A 33,398 cases//75,726 controls EFO_0000378 N/A Associate Coronary artery disease rs9326246-C of NONHSAT159720.1 is significantly associated with the coronary artery disease by using GWAS analysis in 33,398 cases//75,726 controls(p-value = 3E-7 ;OR = 1.15). 0.4 Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants. NCRV0000002458 20062062 NONHSAT191834.1 rs2242944 ? N/A 2,053 european ancestry cases//5,140 european ancestry controls; 898 european ancestry cases//1,518 european ancestry controls EFO_0003898 N/A Associate Ankylosing spondylitis rs2242944-? of NONHSAT191834.1 is significantly associated with the ankylosing spondylitis by using GWAS analysis in 2,053 european ancestry cases//5,140 european ancestry controls; 898 european ancestry cases//1,518 european ancestry controls(p-value = 8E-20 ;OR = 1.39). 0.4 Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci. NCRV0000002816 27863252 NONHSAT180721.1 rs74929147 A N/A 172,952 european ancestry individuals EFO_0004305 N/A Associate Red blood cell count rs74929147-A of NONHSAT180721.1 is significantly associated with the red blood cell count by using GWAS analysis in 172,952 european ancestry individuals(p-value = 9E-10 ;OR = 0.04742117). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002539 28957384 NONHSAT007826.2 rs187271145 A N/A 1,421 european ancestry cases//154 hispanic/latino cases//121 east asian ancestry cases//81,843 european ancestry controls//8,406 hispanic/latino controls//7,397 east asian ancestry controls EFO_1002021 N/A Associate Ankle injury rs187271145-A of NONHSAT007826.2 is significantly associated with the ankle injury by using GWAS analysis in 1,421 european ancestry cases//154 hispanic/latino cases//121 east asian ancestry cases//81,843 european ancestry controls//8,406 hispanic/latino controls//7,397 east asian ancestry controls(p-value = 6E-6 ;OR = 1.6407). 0.4 Two genetic loci associated with ankle injury. NCRV0000000265 28394258 NONHSAT210387.1 rs9261387 C N/A 21,852 european ancestry individuals; 14,787 european ancestry individuals EFO_0008204 N/A Associate Isovolumetric relaxation time rs9261387-C of NONHSAT210387.1 is significantly associated with the isovolumetric relaxation time by using GWAS analysis in 21,852 european ancestry individuals; 14,787 european ancestry individuals(p-value = 7E-7 ;OR = 0.003). 0.4 Large-scale genome-wide analysis identifies genetic variants associated with cardiac structure and function. NCRV0000000902 20935630 NONHSAT054368.2 rs3764400 C N/A up to 123,865 european ancestry individuals; up to 125,931 european ancestry individuals EFO_0001073 N/A Associate Body mass index rs3764400-C of NONHSAT054368.2 is significantly associated with the body mass index by using GWAS analysis in up to 123,865 european ancestry individuals; up to 125,931 european ancestry individuals(p-value = 4E-7 ;OR = ?). 0.4 Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. NCRV0000000957 27863252 NONHSAT217884.1 rs7826487 G N/A 170,494 european ancestry individuals EFO_0007989 N/A Associate Monocyte percentage of white cells rs7826487-G of NONHSAT217884.1 is significantly associated with the monocyte percentage of white cells by using GWAS analysis in 170,494 european ancestry individuals(p-value = 2E-23 ;OR = 0.05602957). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003434 17529974 NONHSAT173881.1 rs3803662 T N/A 1,599 european ancestry cases//11,546 european ancestry controls; 2,954 european ancestry cases//5,967 european ancestry controls//up to 561 japanese ancestry cases//up to 565 japanese ancestry control//up to 422 african american cases//up to 448 african american controls//up to 418 hispanic cases//up to 422 hispanic controls//up to 148 cases//up to 293 controls EFO_0000305 N/A Associate Breast cancer rs3803662-T of NONHSAT173881.1 is significantly associated with the breast cancer by using GWAS analysis in 1,599 european ancestry cases//11,546 european ancestry controls; 2,954 european ancestry cases//5,967 european ancestry controls//up to 561 japanese ancestry cases//up to 565 japanese ancestry control//up to 422 african american cases//up to 448 african american controls//up to 418 hispanic cases//up to 422 hispanic controls//up to 148 cases//up to 293 controls(p-value = 6E-19 ;OR = 1.28). 0.4 Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer. NCRV0000002813 28743860 NONHSAT200183.1 rs7672749 A N/A 8,327 european ancestry individuals//2,087 individuals EFO_0007591 N/A Associate Tb-lm or tblh-bmd (pleiotropy) rs7672749-A of NONHSAT200183.1 is significantly associated with the tb-lm or tblh-bmd (pleiotropy) by using GWAS analysis in 8,327 european ancestry individuals//2,087 individuals(p-value = 3E-8 ;OR = ?). 0.4 Bivariate genome-wide association meta-analysis of pediatric musculoskeletal traits reveals pleiotropic effects at the SREBF1/TOM1L2 locus. NCRV0000000897 24166409 NONHSAT186909.1 rs1437396 T N/A 2,415 african american cases//1,798 african american controls//2,669 european ancestry cases//2,002 european ancestry controls; 324 african american cases//327 african american controls//2,269 european ancestry cases//2,975 european ancestry controls EFO_0003829 N/A Associate Alcohol dependence rs1437396-T of NONHSAT186909.1 is significantly associated with the alcohol dependence by using GWAS analysis in 2,415 african american cases//1,798 african american controls//2,669 european ancestry cases//2,002 european ancestry controls; 324 african american cases//327 african american controls//2,269 european ancestry cases//2,975 european ancestry controls(p-value = 2E-6 ;OR = 1.56). 0.4 Genome-wide association study of alcohol dependence:significant findings in African- and European-Americans including novel risk loci. NCRV0000001693 20848476 NONHSAT190249.1 rs6059101 A N/A 324 european ancestry medically refractory ulcerative colitis cases//537 european ancestry non-medically refractory ulcerative colitis cases//2,601 european ancestry controls EFO_0000729 N/A Associate Ulcerative colitis rs6059101-A of NONHSAT190249.1 is significantly associated with the ulcerative colitis by using GWAS analysis in 324 european ancestry medically refractory ulcerative colitis cases//537 european ancestry non-medically refractory ulcerative colitis cases//2,601 european ancestry controls(p-value = 4E-6 ;OR = ?). 0.4 Genetic predictors of medically refractory ulcerative colitis. NCRV0000000125 23180272 NONHSAT207134.1 rs1042151 G N/A 117 korean ancestry cases//685 korean ancestry controls; 142 korean ancestry cases//996 korean ancestry controls HP_0012042 N/A Associate Aspirin exacerbated respiratory disease in asthmatics rs1042151-G of NONHSAT207134.1 is significantly associated with the aspirin exacerbated respiratory disease in asthmatics by using GWAS analysis in 117 korean ancestry cases//685 korean ancestry controls; 142 korean ancestry cases//996 korean ancestry controls(p-value = 5E-7 ;OR = 2.4). 0.4 Genome-wide association study of aspirin-exacerbated respiratory disease in a Korean population. NCRV0000001928 27114598 NONHSAT198836.1 rs200495769 T N/A 46 european ancestry cases with pancreatitis//3,023 european ancestry cases without pancreatitis//11 black cases with pancreatitis//339 black cases without pancreatitis//46 hispanic cases with pancreatitis//1,131 hispanic cases without pancreatitis//1 asian ancestry case with pancreatitis//98 asian ancestry cases without pancreatitis//13 cases with with pancreatitis//477 cases without pancreatitis EFO_1001507 N/A Associate Asparaginase-induced acute pancreatitis in acute lymphoblastic leukemia (onset time) rs200495769-T of NONHSAT198836.1 is significantly associated with the asparaginase-induced acute pancreatitis in acute lymphoblastic leukemia (onset time) by using GWAS analysis in 46 european ancestry cases with pancreatitis//3,023 european ancestry cases without pancreatitis//11 black cases with pancreatitis//339 black cases without pancreatitis//46 hispanic cases with pancreatitis//1,131 hispanic cases without pancreatitis//1 asian ancestry case with pancreatitis//98 asian ancestry cases without pancreatitis//13 cases with with pancreatitis//477 cases without pancreatitis(p-value = 3E-7 ;OR = 5.7). 0.4 Clinical and Genetic Risk Factors for Acute Pancreatitis in Patients With Acute Lymphoblastic Leukemia. NCRV0000000157 28928442 NONHSAT169266.1 rs1957497 ? N/A 43,826 european ancestry cases//15,720 european ancestry controls EFO_0008417 N/A Associate Number of common colds rs1957497-? of NONHSAT169266.1 is significantly associated with the number of common colds by using GWAS analysis in 43,826 european ancestry cases//15,720 european ancestry controls(p-value = 5E-6 ;OR = 0.0205). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. NCRV0000001145 28604730 NONHSAT171935.1 rs28510890 G N/A 23,223 european ancestry cases// 16,964 european ancestry controls EFO_0001071 in ever smokers Associate Lung cancer in ever smokers rs28510890-G of NONHSAT171935.1 is significantly associated with the lung cancer in ever smokers by using GWAS analysis in 23,223 european ancestry cases// 16,964 european ancestry controls(p-value = 8E-6 ;OR = 1.0823249). 0.4 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. NCRV0000001090 28441456 NONHSAT215480.1 rs55940216 G N/A 2,187 european ancestry individuals EFO_0007858 N/A Associate Facial morphology (factor 14//intercanthal width) rs55940216-G of NONHSAT215480.1 is significantly associated with the facial morphology (factor 14//intercanthal width) by using GWAS analysis in 2,187 european ancestry individuals(p-value = 2E-6 ;OR = 0.2002). 0.4 Genome-wide association study of facial morphology reveals novel associations with FREM1 and PARK2. NCRV0000002278 20639881 NONHSAT159793.1 rs735665 T N/A 681 european ancestry cases//750 european ancestry controls; up to 3,164 european ancestry cases//6,208 european ancestry controls EFO_0000096 N/A Associate Follicular lymphoma rs735665-T of NONHSAT159793.1 is significantly associated with the follicular lymphoma by using GWAS analysis in 681 european ancestry cases//750 european ancestry controls; up to 3,164 european ancestry cases//6,208 european ancestry controls(p-value = 4E-9 ;OR = 1.81). 0.4 Genome-wide association study of follicular lymphoma identifies a risk locus at 6p21.32. NCRV0000001193 26819262 NONHSAT196968.1 rs669607 A N/A 3,599 individuals//1,956 mexican american individuals//5,545 european ancestry multiple sclerosis cases//12,153 european ancestry non-multiple sclerosis controls; EFO_0003885 N/A Associate Epstein barr virus nuclear antigen 1 igg levels or multiple sclerosis rs669607-A of NONHSAT196968.1 is significantly associated with the epstein barr virus nuclear antigen 1 igg levels or multiple sclerosis by using GWAS analysis in 3,599 individuals//1,956 mexican american individuals//5,545 european ancestry multiple sclerosis cases//12,153 european ancestry non-multiple sclerosis controls; (p-value = 4E-9 ;OR = ?). 0.4 Genetic loci for Epstein-Barr virus nuclear antigen-1 are associated with risk of multiple sclerosis. NCRV0000000412 27863252 NONHSAT152168.1 rs17613339 T N/A 170,494 european ancestry individuals EFO_0007989 N/A Associate Monocyte percentage of white cells rs17613339-T of NONHSAT152168.1 is significantly associated with the monocyte percentage of white cells by using GWAS analysis in 170,494 european ancestry individuals(p-value = 3E-10 ;OR = 0.03378121). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003427 28540026 NONHSAT108251.2 rs61747867 T N/A up to 6,197 european ancestry asd cases//up to 7,377 european ancestry controls//up to 1,190 asd cases//up to 1,190 controls EFO_0003756 N/A Associate Autism spectrum disorder rs61747867-T of NONHSAT108251.2 is significantly associated with the autism spectrum disorder by using GWAS analysis in up to 6,197 european ancestry asd cases//up to 7,377 european ancestry controls//up to 1,190 asd cases//up to 1,190 controls(p-value = 2E-9 ;OR = 1.08). 0.4 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. NCRV0000001522 25194280 NONHSAT162783.1 rs10492336 ? N/A 993 chinese ancestry cases//1,995 chinese ancestry controls; 2,398 chinese ancestry cases//2,804 chinese ancestry controls EFO_0006352 N/A Associate Laryngeal squamous cell carcinoma rs10492336-? of NONHSAT162783.1 is significantly associated with the laryngeal squamous cell carcinoma by using GWAS analysis in 993 chinese ancestry cases//1,995 chinese ancestry controls; 2,398 chinese ancestry cases//2,804 chinese ancestry controls(p-value = 4E-14 ;OR = 1.41). 0.4 Genome-wide association study identifies three susceptibility loci for laryngeal squamous cell carcinoma in the Chinese population. NCRV0000000229 27989323 NONHSAT205301.1 rs17269205 G N/A 8,290 finnish ancestry individuals EFO_0005140 N/A Associate Stem cell factor levels rs17269205-G of NONHSAT205301.1 is significantly associated with the stem cell factor levels by using GWAS analysis in 8,290 finnish ancestry individuals(p-value = 8E-6 ;OR = 0.6593). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. NCRV0000000421 23568457 NONHSAT011465.2 rs10906233 C N/A 543 european ancestry female cases//1,116 european ancestry female controls EFO_0005203 N/A Associate Eating disorders rs10906233-C of NONHSAT011465.2 is significantly associated with the eating disorders by using GWAS analysis in 543 european ancestry female cases//1,116 european ancestry female controls(p-value = 4E-6 ;OR = 0.288). 0.4 Genetic variants associated with disordered eating. NCRV0000002759 28443625 NONHSAT207116.1 rs589428 G N/A 95,362 european ancestry women//62,085 european ancestry men//5,829 european ancestry individuals//10,500 african american/afro-caribbean ancestry women//2,706 african american/afro-caribbean ancestry men//1,030 indian asian ancestry women//7,648 indian asian ancestry men//1,793 filipino ancestry women//2,944 hispanic/latino ancestry women//1,764 hispanic/latino ancestry men; 21,496 european ancestry women//24,385 european ancestry men//118,364 european ancestry individuals//2,326 african american/afro-caribbean ancestry women//855 african american/afro-caribbean ancestry men EFO_0007788 adjusted for smoking behaviour Associate Waist-to-hip ratio adjusted for bmi (adjusted for smoking behaviour) rs589428-G of NONHSAT207116.1 is significantly associated with the waist-to-hip ratio adjusted for bmi (adjusted for smoking behaviour) by using GWAS analysis in 95,362 european ancestry women//62,085 european ancestry men//5,829 european ancestry individuals//10,500 african american/afro-caribbean ancestry women//2,706 african american/afro-caribbean ancestry men//1,030 indian asian ancestry women//7,648 indian asian ancestry men//1,793 filipino ancestry women//2,944 hispanic/latino ancestry women//1,764 hispanic/latino ancestry men; 21,496 european ancestry women//24,385 european ancestry men//118,364 european ancestry individuals//2,326 african american/afro-caribbean ancestry women//855 african american/afro-caribbean ancestry men(p-value = 1E-17 ;OR = 0.024). 0.4 Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. NCRV0000003797 20601957 NONHSAT130433.2 rs10965235 C N/A 1,423 japanese ancestry cases//1,318 japanese ancestry controls; 484 japanese ancestry cases//3,974 japanese ancestry controls EFO_0001065 N/A Associate Endometriosis rs10965235-C of NONHSAT130433.2 is significantly associated with the endometriosis by using GWAS analysis in 1,423 japanese ancestry cases//1,318 japanese ancestry controls; 484 japanese ancestry cases//3,974 japanese ancestry controls(p-value = 6E-12 ;OR = 1.44). 0.4 A genome-wide association study identifies genetic variants in the CDKN2BAS locus associated with endometriosis in Japanese. NCRV0000001108 24324551 NONHSAT070610.2 rs34198350 ? N/A 580 brazilian ancestry individuals EFO_0004278 N/A Associate Qt interval in tripanosoma cruzi seropositivity rs34198350-? of NONHSAT070610.2 is significantly associated with the qt interval in tripanosoma cruzi seropositivity by using GWAS analysis in 580 brazilian ancestry individuals(p-value = 8E-6 ;OR = ?). 0.4 Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects. NCRV0000000568 25342443 NONHSAT211293.1 rs12665607 A N/A 7,600 european ancestry individuals; 343 european ancestry individuals//1,472 old order amish individuals//8,564 individuals EFO_0006503 N/A Associate Mammographic density (dense area) rs12665607-A of NONHSAT211293.1 is significantly associated with the mammographic density (dense area) by using GWAS analysis in 7,600 european ancestry individuals; 343 european ancestry individuals//1,472 old order amish individuals//8,564 individuals(p-value = 2E-8 ;OR = 0.17). 0.4 Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk. NCRV0000003815 28448500 NONHSAT036194.2 rs12885454 ? N/A 2,518 african american women//86,278 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//55,137 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men EFO_0001073 joint analysis main effects and physical activity interaction Associate Body mass index (joint analysis main effects and physical activity interaction) rs12885454-? of NONHSAT036194.2 is significantly associated with the body mass index (joint analysis main effects and physical activity interaction) by using GWAS analysis in 2,518 african american women//86,278 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//55,137 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men(p-value = 1E-6 ;OR = ?). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. NCRV0000000566 23760081 NONHSAT207117.1 rs652888 ? N/A 400 korean ancestry cases//1,000 korean ancestry controls; 971 korean ancestry cases//1,938 korean ancestry controls EFO_0004239 N/A Associate Chronic hepatitis b infection rs652888-? of NONHSAT207117.1 is significantly associated with the chronic hepatitis b infection by using GWAS analysis in 400 korean ancestry cases//1,000 korean ancestry controls; 971 korean ancestry cases//1,938 korean ancestry controls(p-value = 7E-13 ;OR = 1.38). 0.4 A genome-wide association study identified new variants associated with the risk of chronic hepatitis B. NCRV0000003161 28869590 NONHSAT215675.1 rs12681990 C N/A 6,353 south asian ancestry cases//7,179 south asian ancestry controls//3,871 european ancestry cases//16,427 european ancestry controls//34,840 cases//114,981 controls; 7,888 south asian ancestry cases//20,679 south asian ancestry controls//387 european ancestry cases//2,092 european ancestry controls//19,998 east asian ancestry cases//30,983 east asian ancestry controls EFO_0001360 N/A Associate Type 2 diabetes rs12681990-C of NONHSAT215675.1 is significantly associated with the type 2 diabetes by using GWAS analysis in 6,353 south asian ancestry cases//7,179 south asian ancestry controls//3,871 european ancestry cases//16,427 european ancestry controls//34,840 cases//114,981 controls; 7,888 south asian ancestry cases//20,679 south asian ancestry controls//387 european ancestry cases//2,092 european ancestry controls//19,998 east asian ancestry cases//30,983 east asian ancestry controls(p-value = 3E-9 ;OR = 1.05). 0.4 Identification of new susceptibility loci for type 2 diabetes and shared etiological pathways with coronary heart disease. NCRV0000003323 23934736 NONHSAT218862.1 rs11775199 A N/A 1,260 african american individuals EFO_0005275 N/A Associate Metabolite levels (dihydroxy docosatrienoic acid) rs11775199-A of NONHSAT218862.1 is significantly associated with the metabolite levels (dihydroxy docosatrienoic acid) by using GWAS analysis in 1,260 african american individuals(p-value = 7E-6 ;OR = 0.11). 0.4 Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study. NCRV0000002926 27863252 NONHSAT217884.1 rs7826487 G N/A 169,545 european ancestry individuals EFO_0007997 N/A Associate Granulocyte percentage of myeloid white cells rs7826487-G of NONHSAT217884.1 is significantly associated with the granulocyte percentage of myeloid white cells by using GWAS analysis in 169,545 european ancestry individuals(p-value = 2E-22 ;OR = 0.05472916). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002167 29186694 NONHSAT210968.1 rs768023 ? N/A 107,207 european ancestry individuals EFO_0008354 N/A Associate Cognitive ability rs768023-? of NONHSAT210968.1 is significantly associated with the cognitive ability by using GWAS analysis in 107,207 european ancestry individuals(p-value = 5E-16 ;OR = 8.102). 0.4 Large-Scale Cognitive GWAS Meta-Analysis Reveals Tissue-Specific Neural Expression and Potential Nootropic Drug Targets. NCRV0000003171 22959728 NONHSAT174934.1 rs7477 T N/A 4,243 european ancestry cases//5,112 european ancestry controls EFO_0000253 N/A Associate Amyotrophic lateral sclerosis rs7477-T of NONHSAT174934.1 is significantly associated with the amyotrophic lateral sclerosis by using GWAS analysis in 4,243 european ancestry cases//5,112 european ancestry controls(p-value = 3E-7 ;OR = 1.3). 0.4 Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1. NCRV0000003624 28334935 NONHSAT108210.2 rs1799945 C N/A 12,375 hispanic/latino individuals EFO_0004459 N/A Associate Iron status biomarkers (ferritin levels) rs1799945-C of NONHSAT108210.2 is significantly associated with the iron status biomarkers (ferritin levels) by using GWAS analysis in 12,375 hispanic/latino individuals(p-value = 1E-9 ;OR = 0.043). 0.4 Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation? NCRV0000002471 28443625 NONHSAT105096.2 rs4868125 C N/A 97,400 european ancestry women//63,892 european ancestry men//5,829 european ancestry individuals//10,500 african american/afro-caribbean ancestry women//2,706 african american/afro-caribbean ancestry men//1,030 indian asian ancestry women//7,648 indian asian ancestry men//1,793 filipino ancestry women//2,944 hispanic/latino ancestry women//1,764 hispanic/latino ancestry men; 21,496 european ancestry women//24,385 european ancestry men//118,364 european ancestry individuals//2,326 african american/afro-caribbean ancestry women//855 african american/afro-caribbean ancestry men EFO_0007789 adjusted for BMI (adjusted for smoking behaviour) Associate Waist circumference adjusted for bmi (adjusted for smoking behaviour) rs4868125-C of NONHSAT105096.2 is significantly associated with the waist circumference adjusted for bmi (adjusted for smoking behaviour) by using GWAS analysis in 97,400 european ancestry women//63,892 european ancestry men//5,829 european ancestry individuals//10,500 african american/afro-caribbean ancestry women//2,706 african american/afro-caribbean ancestry men//1,030 indian asian ancestry women//7,648 indian asian ancestry men//1,793 filipino ancestry women//2,944 hispanic/latino ancestry women//1,764 hispanic/latino ancestry men; 21,496 european ancestry women//24,385 european ancestry men//118,364 european ancestry individuals//2,326 african american/afro-caribbean ancestry women//855 african american/afro-caribbean ancestry men(p-value = 1E-6 ;OR = 0.0183). 0.4 Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. NCRV0000001936 24375517 NONHSAT125675.2 rs17060993 ? N/A 127 european ancestry cases//984 european ancestry controls; 116 european ancestry cases//125 european ancestry controls Orphanet_93957 N/A Associate Musician's dystonia rs17060993-? of NONHSAT125675.2 is significantly associated with the musician's dystonia by using GWAS analysis in 127 european ancestry cases//984 european ancestry controls; 116 european ancestry cases//125 european ancestry controls(p-value = 2E-6 ;OR = 2.7). 0.4 Genome-wide association study in musician's dystonia: a risk variant at the arylsulfatase G locus? NCRV0000003598 23903073 NONHSAT212943.1 rs1561176 G N/A 1,089 korean ancestry females; 2,090 korean ancestry individuals EFO_0004365 N/A Associate Personality dimensions rs1561176-G of NONHSAT212943.1 is significantly associated with the personality dimensions by using GWAS analysis in 1,089 korean ancestry females; 2,090 korean ancestry individuals(p-value = 7E-6 ;OR = 0.06). 0.4 Genome-wide association study of the five-factor model of personality in young Korean women. NCRV0000002731 22589738 NONHSAT216037.1 rs16909318 C N/A 5,560 european ancestry female individuals//4,997 european ancestry male individuals EFO_0004765 N/A Associate Visceral fat rs16909318-C of NONHSAT216037.1 is significantly associated with the visceral fat by using GWAS analysis in 5,560 european ancestry female individuals//4,997 european ancestry male individuals(p-value = 7E-7 ;OR = ?). 0.4 Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. NCRV0000001308 23382691 NONHSAT200939.1 rs7661864 G N/A 2,247 european ancestry individuals EFO_0002690 N/A Associate Igg glycosylation rs7661864-G of NONHSAT200939.1 is significantly associated with the igg glycosylation by using GWAS analysis in 2,247 european ancestry individuals(p-value = 5E-6 ;OR = 0.3307). 0.4 Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. NCRV0000003453 20889312 NONHSAT188523.1 rs6046396 ? N/A 651 european ancestry bipolar cases//1,171 european ancestry schizophrenia cases//2,412 european ancestry controls EFO_0000677 N/A Associate Bipolar disorder and schizophrenia rs6046396-? of NONHSAT188523.1 is significantly associated with the bipolar disorder and schizophrenia by using GWAS analysis in 651 european ancestry bipolar cases//1,171 european ancestry schizophrenia cases//2,412 european ancestry controls(p-value = 4E-7 ;OR = 1.2815). 0.4 A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. NCRV0000000847 27863252 NONHSAT210203.1 rs61025394 A N/A 164,339 european ancestry individuals EFO_0007985 N/A Associate Plateletcrit rs61025394-A of NONHSAT210203.1 is significantly associated with the plateletcrit by using GWAS analysis in 164,339 european ancestry individuals(p-value = 3E-9 ;OR = 0.02662813). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000461 27680694 NONHSAT070480.2 rs1374204 T N/A 133,903 european ancestry individuals//6,635 african american individuals//420 turkish ancestry individuals//365 moroccan ancestry individuals//395 surinamese ancestry individuals//840 chinese ancestry individuals.; 9,799 european ancestry individuals//1,449 filipino ancestry individuals. EFO_0004344 N/A Associate Birth weight rs1374204-T of NONHSAT070480.2 is significantly associated with the birth weight by using GWAS analysis in 133,903 european ancestry individuals//6,635 african american individuals//420 turkish ancestry individuals//365 moroccan ancestry individuals//395 surinamese ancestry individuals//840 chinese ancestry individuals.; 9,799 european ancestry individuals//1,449 filipino ancestry individuals.(p-value = 2E-29 ;OR = 0.0459). 0.4 Genome-wide associations for birth weight and correlations with adult disease. NCRV0000003611 26394269 NONHSAT196511.1 rs485499 T N/A 2,764 european ancestry cases//10,475 european ancestry controls; 3,716 european ancestry cases// 4,261 european ancestry controls EFO_1001486 N/A Associate Primary biliary cholangitis rs485499-T of NONHSAT196511.1 is significantly associated with the primary biliary cholangitis by using GWAS analysis in 2,764 european ancestry cases//10,475 european ancestry controls; 3,716 european ancestry cases// 4,261 european ancestry controls(p-value = 1E-23 ;OR = 1.4084507). 0.4 International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways. NCRV0000002182 23793025 NONHSAT189932.1 rs16985493 A N/A 5,175 european ancestry clinic-based cases//13,972 european ancestry clinic-based controls EFO_0003821 N/A Associate Migraine - clinic-based rs16985493-A of NONHSAT189932.1 is significantly associated with the migraine - clinic-based by using GWAS analysis in 5,175 european ancestry clinic-based cases//13,972 european ancestry clinic-based controls(p-value = 4E-6 ;OR = 1.37). 0.4 Genome-wide meta-analysis identifies new susceptibility loci for migraine. NCRV0000001811 27863252 NONHSAT031439.2 rs9165 C N/A 164,339 european ancestry individuals EFO_0007985 N/A Associate Plateletcrit rs9165-C of NONHSAT031439.2 is significantly associated with the plateletcrit by using GWAS analysis in 164,339 european ancestry individuals(p-value = 2E-26 ;OR = 0.04331828). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000351 20452100 NONHSAT124992.2 rs11782819 ? N/A 185 european ancestry low nft individuals//114 european ancestry high nft individuals EFO_0000249 N/A Associate Alzheimer's disease rs11782819-? of NONHSAT124992.2 is significantly associated with the alzheimer's disease by using GWAS analysis in 185 european ancestry low nft individuals//114 european ancestry high nft individuals(p-value = 3E-6 ;OR = ?). 0.4 Alzheimer disease pathology in cognitively healthy elderly: a genome-wide study. NCRV0000002520 28139693 NONHSAT210479.1 rs6920449 T N/A 28,503 european ancestry individuals; 2,716 latino individuals//2,518 east asian ancestry individuals//1,585 african american individuals//6,193 european ancestry individuals (later diagnosed with prostate cancer)//5,603 european ancestry individuals EFO_0001663 N/A Associate Prostate-specific antigen levels rs6920449-T of NONHSAT210479.1 is significantly associated with the prostate-specific antigen levels by using GWAS analysis in 28,503 european ancestry individuals; 2,716 latino individuals//2,518 east asian ancestry individuals//1,585 african american individuals//6,193 european ancestry individuals (later diagnosed with prostate cancer)//5,603 european ancestry individuals(p-value = 6E-12 ;OR = 0.0529541). 0.4 Genome-wide association study of prostate-specific antigen levels identifies novel loci independent of prostate cancer. NCRV0000002110 19862010 NONHSAT208069.1 rs9373124 C N/A 24,167 european ancestry individuals; 9,456 european ancestry individuals EFO_0005047 N/A Associate Other erythrocyte phenotypes rs9373124-C of NONHSAT208069.1 is significantly associated with the other erythrocyte phenotypes by using GWAS analysis in 24,167 european ancestry individuals; 9,456 european ancestry individuals(p-value = 7E-14 ;OR = 0.0). 0.4 Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. NCRV0000000148 22648509 NONHSAT055624.2 rs1015657 ? N/A 835 european ancestry cases//2,694 european ancestry controls EFO_0004805 N/A Associate Formal thought disorder in schizophrenia rs1015657-? of NONHSAT055624.2 is significantly associated with the formal thought disorder in schizophrenia by using GWAS analysis in 835 european ancestry cases//2,694 european ancestry controls(p-value = 2E-6 ;OR = 1.32). 0.4 PKNOX2 is associated with formal thought disorder in schizophrenia: a meta-analysis of two genome-wide association studies. NCRV0000000908 20541252 NONHSAT018142.2 rs10741657 ? N/A 16,125 european ancestry individuals; 17,871 european ancestry individuals EFO_0003762 N/A Associate Vitamin d insufficiency rs10741657-? of NONHSAT018142.2 is significantly associated with the vitamin d insufficiency by using GWAS analysis in 16,125 european ancestry individuals; 17,871 european ancestry individuals(p-value = 3E-20 ;OR = ?). 0.4 Common genetic determinants of vitamin D insufficiency: a genome-wide association study. NCRV0000001754 28447399 NONHSAT168036.1 rs4772857 G N/A 140 african american cases//167 european ancestry cases//53 hispanic cases//6 cases//350 african american controls//276 european ancestry controls//46 hispanic controls//11 controls EFO_0007998 HIV-1 infection (dichotomous) Associate Neurocognitive impairment in hiv-1 infection (dichotomous) rs4772857-G of NONHSAT168036.1 is significantly associated with the neurocognitive impairment in hiv-1 infection (dichotomous) by using GWAS analysis in 140 african american cases//167 european ancestry cases//53 hispanic cases//6 cases//350 african american controls//276 european ancestry controls//46 hispanic controls//11 controls(p-value = 2E-6 ;OR = 1.604). 0.4 Genome-wide association study of HIV-associated neurocognitive disorder (HAND): A CHARTER group study. NCRV0000002909 28498854 NONHSAT215731.1 rs10096908 ? N/A up to 31,155 african individuals; up to 4,187 african individuals//up to 14,016 korean ancestry individuals//up to 23,914 european ancestry individuals//up to 12,278 hispanic individuals EFO_0000319 N/A Associate Systolic blood pressure rs10096908-? of NONHSAT215731.1 is significantly associated with the systolic blood pressure by using GWAS analysis in up to 31,155 african individuals; up to 4,187 african individuals//up to 14,016 korean ancestry individuals//up to 23,914 european ancestry individuals//up to 12,278 hispanic individuals(p-value = 2E-6 ;OR = 0.8292). 0.4 Single-trait and multi-trait genome-wide association analyses identify novel loci for blood pressure in African-ancestry populations. NCRV0000002735 23382691 NONHSAT148208.1 rs11260603 C N/A 2,247 european ancestry individuals EFO_0002690 N/A Associate Igg glycosylation rs11260603-C of NONHSAT148208.1 is significantly associated with the igg glycosylation by using GWAS analysis in 2,247 european ancestry individuals(p-value = 4E-7 ;OR = 0.2608). 0.4 Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. NCRV0000002474 28540026 NONHSAT177845.1 rs72934570 ? N/A up to 6,197 european ancestry asd cases//up to 7,377 european ancestry controls//up to 1,190 asd cases//up to 1,190 controls EFO_0003756 N/A Associate Autism spectrum disorder rs72934570-? of NONHSAT177845.1 is significantly associated with the autism spectrum disorder by using GWAS analysis in up to 6,197 european ancestry asd cases//up to 7,377 european ancestry controls//up to 1,190 asd cases//up to 1,190 controls(p-value = 1E-9 ;OR = 1.1235955). 0.4 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. NCRV0000002102 28928442 NONHSAT150603.1 rs7551561 ? N/A 60,098 european ancestry cases//113,323 european ancestry controls EFO_0007924 N/A Associate Tonsillectomy rs7551561-? of NONHSAT150603.1 is significantly associated with the tonsillectomy by using GWAS analysis in 60,098 european ancestry cases//113,323 european ancestry controls(p-value = 1E-7 ;OR = 0.0587). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. NCRV0000003101 25673413 NONHSAT211355.1 rs9364687 G N/A up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals EFO_0001073 N/A Associate Body mass index rs9364687-G of NONHSAT211355.1 is significantly associated with the body mass index by using GWAS analysis in up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals(p-value = 9E-7 ;OR = 0.02). 0.4 Genetic studies of body mass index yield new insights for obesity biology. NCRV0000001432 26242244 NONHSAT060068.2 rs11662586 ? N/A 128 han chinese ancestry cases EFO_0007700 N/A Associate Exploratory eye movement dysfunction in schizophrenia (responsive search score) rs11662586-? of NONHSAT060068.2 is significantly associated with the exploratory eye movement dysfunction in schizophrenia (responsive search score) by using GWAS analysis in 128 han chinese ancestry cases(p-value = 9E-6 ;OR = 3.632). 0.4 Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia. NCRV0000000121 23319000 NONHSAT106509.2 rs2569872 C N/A up to 398 european ancestry individuals EFO_0005133 N/A Associate Metabolite levels (hva/mhpg ratio) rs2569872-C of NONHSAT106509.2 is significantly associated with the metabolite levels (hva/mhpg ratio) by using GWAS analysis in up to 398 european ancestry individuals(p-value = 8E-6 ;OR = 0.2821). 0.4 Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid. NCRV0000001204 28139693 NONHSAT172587.1 rs9921192 C N/A 28,503 european ancestry individuals; 2,716 latino individuals//2,518 east asian ancestry individuals//1,585 african american individuals//6,193 european ancestry individuals (later diagnosed with prostate cancer)//5,603 european ancestry individuals EFO_0001663 N/A Associate Prostate-specific antigen levels rs9921192-C of NONHSAT172587.1 is significantly associated with the prostate-specific antigen levels by using GWAS analysis in 28,503 european ancestry individuals; 2,716 latino individuals//2,518 east asian ancestry individuals//1,585 african american individuals//6,193 european ancestry individuals (later diagnosed with prostate cancer)//5,603 european ancestry individuals(p-value = 1E-9 ;OR = 0.0350975). 0.4 Genome-wide association study of prostate-specific antigen levels identifies novel loci independent of prostate cancer. NCRV0000000767 23955597 NONHSAT186419.1 rs7580717 G N/A 2,335 european ancestry cases//7,306 european ancestry controls; 2,357 european ancestry cases//3,684 european ancestry controls EFO_0001378 N/A Associate Multiple myeloma rs7580717-G of NONHSAT186419.1 is significantly associated with the multiple myeloma by using GWAS analysis in 2,335 european ancestry cases//7,306 european ancestry controls; 2,357 european ancestry cases//3,684 european ancestry controls(p-value = 5E-6 ;OR = 1.131). 0.4 Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences multiple myeloma risk. NCRV0000000188 28540026 NONHSAT187912.1 rs59979824 ? N/A up to 6,197 european ancestry asd cases//up to 7,377 european ancestry controls//up to 1,190 asd cases//up to 1,190 controls EFO_0003756 N/A Associate Autism spectrum disorder rs59979824-? of NONHSAT187912.1 is significantly associated with the autism spectrum disorder by using GWAS analysis in up to 6,197 european ancestry asd cases//up to 7,377 european ancestry controls//up to 1,190 asd cases//up to 1,190 controls(p-value = 6E-9 ;OR = 1.0638298). 0.4 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. NCRV0000003514 27863252 NONHSAT170599.1 rs8024893 G N/A 171,529 european ancestry individuals EFO_0005192 N/A Associate Red cell distribution width rs8024893-G of NONHSAT170599.1 is significantly associated with the red cell distribution width by using GWAS analysis in 171,529 european ancestry individuals(p-value = 4E-11 ;OR = 0.03722595). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001686 19557197 NONHSAT168677.1 rs10146997 G N/A 31,373 european ancestry individuals; 38,641 individuals EFO_0004342 N/A Associate Waist circumference rs10146997-G of NONHSAT168677.1 is significantly associated with the waist circumference by using GWAS analysis in 31,373 european ancestry individuals; 38,641 individuals(p-value = 5E-8 ;OR = 0.65). 0.4 NRXN3 is a novel locus for waist circumference: a genome-wide association study from the CHARGE Consortium. NCRV0000001976 28240269 NONHSAT156922.1 rs2505535 A N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008272 N/A Associate Blood protein levels rs2505535-A of NONHSAT156922.1 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 3E-19 ;OR = 0.4312). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. NCRV0000003398 27117709 NONHSAT202081.1 rs2736108 ? N/A 4,939 european ancestry estrogen receptor-negative cases//14,352 european ancestry controls; 7,333 european ancestry estrogen receptor-negative cases//7,797 european ancestry brca1 mutation carrier cases//7,455 european ancestry brca1 mutation carrier controls//42,468 european ancestry controls EFO_0000305 N/A Associate Breast cancer rs2736108-? of NONHSAT202081.1 is significantly associated with the breast cancer by using GWAS analysis in 4,939 european ancestry estrogen receptor-negative cases//14,352 european ancestry controls; 7,333 european ancestry estrogen receptor-negative cases//7,797 european ancestry brca1 mutation carrier cases//7,455 european ancestry brca1 mutation carrier controls//42,468 european ancestry controls(p-value = 3E-14 ;OR = 1.1235955). 0.4 Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer. NCRV0000003234 28441456 NONHSAT208001.1 rs55671240 A N/A 2,187 european ancestry individuals EFO_0007955 N/A Associate Facial morphology (factor 12//vertical position of sublabial sulcus relative to central midface) rs55671240-A of NONHSAT208001.1 is significantly associated with the facial morphology (factor 12//vertical position of sublabial sulcus relative to central midface) by using GWAS analysis in 2,187 european ancestry individuals(p-value = 2E-6 ;OR = 0.1462). 0.4 Genome-wide association study of facial morphology reveals novel associations with FREM1 and PARK2. NCRV0000003476 22885922 NONHSAT053287.2 rs11651052 A N/A 6,377 european ancestry male cases//5,794 european ancestry female cases//22,243 european ancestry male controls//34,619 european ancestry female controls; 12,938 european ancestry male cases//8,553 european ancestry female cases//904 pakistani ancestry male cases//274 pakistani ancestry female cases//30,273 european ancestry male controls//25,374 european ancestry female controls//2,088 pakistani ancestry male controls//384 pakistani ancestry female controls EFO_0001360 N/A Associate Type 2 diabetes rs11651052-A of NONHSAT053287.2 is significantly associated with the type 2 diabetes by using GWAS analysis in 6,377 european ancestry male cases//5,794 european ancestry female cases//22,243 european ancestry male controls//34,619 european ancestry female controls; 12,938 european ancestry male cases//8,553 european ancestry female cases//904 pakistani ancestry male cases//274 pakistani ancestry female cases//30,273 european ancestry male controls//25,374 european ancestry female controls//2,088 pakistani ancestry male controls//384 pakistani ancestry female controls(p-value = 2E-11 ;OR = 1.1). 0.4 Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. NCRV0000001932 29235454 NONHSAT191919.1 rs2839082 ? N/A 56,819 european ancestry individuals//5,748 hispanic/latino individuals//5,119 east asian ancestry individuals//2,070 african american individuals; 37,930 european and asian ancestry individuals EFO_0004695 N/A Associate Intraocular pressure rs2839082-? of NONHSAT191919.1 is significantly associated with the intraocular pressure by using GWAS analysis in 56,819 european ancestry individuals//5,748 hispanic/latino individuals//5,119 east asian ancestry individuals//2,070 african american individuals; 37,930 european and asian ancestry individuals(p-value = 8E-9 ;OR = 0.07). 0.4 A large multi-ethnic genome-wide association study identifies novel genetic loci for intraocular pressure. NCRV0000001707 25231870 NONHSAT187685.1 rs4369815 T N/A up to 182,413 european ancestry females EFO_0004703 N/A Associate Menarche (age at onset) rs4369815-T of NONHSAT187685.1 is significantly associated with the menarche (age at onset) by using GWAS analysis in up to 182,413 european ancestry females(p-value = 2E-10 ;OR = 0.06). 0.4 Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. NCRV0000000953 26297903 NONHSAT113901.2 rs9362426 ? N/A 723 european ancestry cases EFO_0000289 N/A Associate Depressive episodes in bipolar disorder rs9362426-? of NONHSAT113901.2 is significantly associated with the depressive episodes in bipolar disorder by using GWAS analysis in 723 european ancestry cases(p-value = 1E-6 ;OR = 0.08). 0.4 Genetics of long-term treatment outcome in bipolar disorder. NCRV0000003532 21743469 NONHSAT003779.2 rs11209026 G N/A 3,023 european ancestry cases//8,779 european ancestry controls; 2,111 european ancestry cases//4,483 european ancestry controls EFO_0003898 N/A Associate Ankylosing spondylitis rs11209026-G of NONHSAT003779.2 is significantly associated with the ankylosing spondylitis by using GWAS analysis in 3,023 european ancestry cases//8,779 european ancestry controls; 2,111 european ancestry cases//4,483 european ancestry controls(p-value = 2E-17 ;OR = ?). 0.4 Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility. NCRV0000002765 23382691 NONHSAT216915.1 rs11774682 C N/A 2,247 european ancestry individuals EFO_0002690 N/A Associate Igg glycosylation rs11774682-C of NONHSAT216915.1 is significantly associated with the igg glycosylation by using GWAS analysis in 2,247 european ancestry individuals(p-value = 1E-6 ;OR = 0.8276). 0.4 Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. NCRV0000001621 23251661 NONHSAT206072.1 rs17668565 G N/A 815 hispanic children from 263 families EFO_0004338 N/A Associate Obesity-related traits rs17668565-G of NONHSAT206072.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 5E-7 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. NCRV0000003593 23251661 NONHSAT080692.2 rs4925325 A N/A 815 hispanic children from 263 families EFO_0004611 N/A Associate Obesity-related traits rs4925325-A of NONHSAT080692.2 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 7E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. NCRV0000000081 24143882 NONHSAT018246.2 rs60349741 ? N/A 1,383 european ancestry cases//996 european ancestry controls//683 african american cases//2,635 african american controls; 2,116 european ancestry individuals//4,496 african american individuals GO_0014072 N/A Associate Opioid sensitivity rs60349741-? of NONHSAT018246.2 is significantly associated with the opioid sensitivity by using GWAS analysis in 1,383 european ancestry cases//996 european ancestry controls//683 african american cases//2,635 african american controls; 2,116 european ancestry individuals//4,496 african american individuals(p-value = 5E-7 ;OR = ?). 0.4 Genome-wide association study of opioid dependence: multiple associations mapped to calcium and potassium pathways. NCRV0000003755 28067908 NONHSAT191238.1 rs2823286 ? N/A 12,194 european and unknown ancestry cases//28,072 european and unknown ancestry controls EFO_0000384 N/A Associate Crohn's disease rs2823286-? of NONHSAT191238.1 is significantly associated with the crohn's disease by using GWAS analysis in 12,194 european and unknown ancestry cases//28,072 european and unknown ancestry controls(p-value = 6E-26 ;OR = ?). 0.4 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. NCRV0000002614 28739976 NONHSAT108210.2 rs1799945 G N/A 150,134 european ancestry individuals; 87,359 european ancestry individuals//140,886 european and unknown ancestry individuals EFO_0000319 N/A Associate Systolic blood pressure rs1799945-G of NONHSAT108210.2 is significantly associated with the systolic blood pressure by using GWAS analysis in 150,134 european ancestry individuals; 87,359 european ancestry individuals//140,886 european and unknown ancestry individuals(p-value = 8E-10 ;OR = 0.627). 0.4 Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.LID - HYPERTENSIONAHA.117.09438 [pii]LID - 10.1161/HYPERTENSIONAHA.117.09438 [doi]AB - Elevated blood pressure NCRV0000003393 29059683 NONHSAT022220.2 rs3903072 G N/A 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls EFO_0000305 N/A Associate Breast cancer rs3903072-G of NONHSAT022220.2 is significantly associated with the breast cancer by using GWAS analysis in 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls(p-value = 2E-12 ;OR = 1.0309278). 0.4 Association analysis identifies 65 new breast cancer risk loci. NCRV0000002708 22293688 NONHSAT003779.2 rs11209026 ? N/A 16,179 european ancestry individuals EFO_0000384 N/A Associate Crohn's disease rs11209026-? of NONHSAT003779.2 is significantly associated with the crohn's disease by using GWAS analysis in 16,179 european ancestry individuals(p-value = 4E-21 ;OR = 3.18). 0.4 1000 Genomes-based imputation identifies novel and refined associations for the Wellcome Trust Case Control Consortium phase 1 Data. NCRV0000000521 23349640 NONHSAT210402.1 rs2621416 G N/A 275 follicular non-hodgkin's lymphoma cases//269 diffuse large b-cell non-hodgkin's lymphoma cases//198 other non-hodgkin's lymphoma cases//202 hodgkin's lymphoma cases//4,044 controls; 202 european ancestry follicular non-hodgkin's lymphoma cases//367 european ancestry diffuse large b-cell non-hodgkin's lymphoma cases//577 european ancestry other non-hodgkin's lymphoma cases//99 european ancestry hodgkin's lymphoma cases//2,596 european ancestry controls EFO_0000574 N/A Associate Lymphoma rs2621416-G of NONHSAT210402.1 is significantly associated with the lymphoma by using GWAS analysis in 275 follicular non-hodgkin's lymphoma cases//269 diffuse large b-cell non-hodgkin's lymphoma cases//198 other non-hodgkin's lymphoma cases//202 hodgkin's lymphoma cases//4,044 controls; 202 european ancestry follicular non-hodgkin's lymphoma cases//367 european ancestry diffuse large b-cell non-hodgkin's lymphoma cases//577 european ancestry other non-hodgkin's lymphoma cases//99 european ancestry hodgkin's lymphoma cases//2,596 european ancestry controls(p-value = 2E-9 ;OR = 1.57). 0.4 Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies. NCRV0000001815 27262462 NONHSAT129023.2 rs138042437 G N/A 2,511 european ancestry cases//1,382 european ancestry controls EFO_0001663 N/A Associate Prostate cancer rs138042437-G of NONHSAT129023.2 is significantly associated with the prostate cancer by using GWAS analysis in 2,511 european ancestry cases//1,382 european ancestry controls(p-value = 2E-8 ;OR = 13.25). 0.4 Genome-wide association of familial prostate cancer cases identifies evidence for a rare segregating haplotype at 8q24.21. NCRV0000001004 21203500 NONHSAT164116.1 rs735396 G N/A 2,559 european ancestry individuals EFO_0004999 N/A Associate N-glycan levels rs735396-G of NONHSAT164116.1 is significantly associated with the n-glycan levels by using GWAS analysis in 2,559 european ancestry individuals(p-value = 4E-8 ;OR = 0.17). 0.4 Genomics meets glycomics-the first GWAS study of human N-Glycome identifies HNF1alpha as a master regulator of plasma protein fucosylation. NCRV0000002535 17554261 NONHSAT015920.2 rs10883365 ? N/A 1,748 cases//2,938 controls; 1,182 european ancestry cases//2,024 european ancestry controls EFO_0000384 N/A Associate Crohn's disease rs10883365-? of NONHSAT015920.2 is significantly associated with the crohn's disease by using GWAS analysis in 1,748 cases//2,938 controls; 1,182 european ancestry cases//2,024 european ancestry controls(p-value = 4E-10 ;OR = 1.18). 0.4 Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility. NCRV0000000733 29059683 NONHSAT215675.1 rs13365225 A N/A 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls EFO_0000305 N/A Associate Breast cancer rs13365225-A of NONHSAT215675.1 is significantly associated with the breast cancer by using GWAS analysis in 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls(p-value = 1E-20 ;OR = 1.098901). 0.4 Association analysis identifies 65 new breast cancer risk loci. NCRV0000001174 24578207 NONHSAT213362.1 rs1014137 C N/A 466 european ancestry individuals Orphanet_136 N/A Associate White matter hyperintensity volume in cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy rs1014137-C of NONHSAT213362.1 is significantly associated with the white matter hyperintensity volume in cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy by using GWAS analysis in 466 european ancestry individuals(p-value = 8E-6 ;OR = 0.0241). 0.4 Genome-wide genotyping demonstrates a polygenic risk score associated with white matter hyperintensity volume in CADASIL. NCRV0000000620 28448500 NONHSAT160117.1 rs1330 ? N/A 2,518 african american women//85,730 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//54,792 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men EFO_0007789 joint analysis main effects and physical activity interaction Associate Waist circumference adjusted for bmi (joint analysis main effects and physical activity interaction) rs1330-? of NONHSAT160117.1 is significantly associated with the waist circumference adjusted for bmi (joint analysis main effects and physical activity interaction) by using GWAS analysis in 2,518 african american women//85,730 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//54,792 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men(p-value = 4E-7 ;OR = ?). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. NCRV0000003903 26634245 NONHSAT129674.2 rs1140522 T N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs1140522-T of NONHSAT129674.2 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 5E-6 ;OR = 0.044). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000001729 22589738 NONHSAT178108.1 rs12967884 A N/A 5,560 european ancestry female individuals//4,997 european ancestry male individuals EFO_0004766 N/A Associate Subcutaneous adipose tissue rs12967884-A of NONHSAT178108.1 is significantly associated with the subcutaneous adipose tissue by using GWAS analysis in 5,560 european ancestry female individuals//4,997 european ancestry male individuals(p-value = 7E-6 ;OR = ?). 0.4 Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. NCRV0000002270 26634245 NONHSAT159598.1 rs586701 T N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs586701-T of NONHSAT159598.1 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 7E-8 ;OR = 0.061). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000002186 22190364 NONHSAT203488.1 rs2546890 A N/A 5,545 european ancestry cases//12,153 european ancestry controls EFO_0003885 N/A Associate Multiple sclerosis rs2546890-A of NONHSAT203488.1 is significantly associated with the multiple sclerosis by using GWAS analysis in 5,545 european ancestry cases//12,153 european ancestry controls(p-value = 8E-8 ;OR = 1.16). 0.4 Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. NCRV0000000175 28240269 NONHSAT200819.1 rs2289252 T N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0004694 N/A Associate Blood protein levels rs2289252-T of NONHSAT200819.1 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 5E-25 ;OR = 0.4419). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. NCRV0000002925 28183528 NONHSAT054945.2 rs2632516 G N/A 4,829 european ancestry cases//9,740 european ancestry controls//607 african american cases//2,270 african american controls//416 japanese ancestry cases//743 japanese ancestry controls//51 israeli-arab ancestry cases//64 israeli-arab ancestry controls; 2,751 european ancestry cases//11,497 european ancestry controls EFO_0000249 N/A Associate Alzheimer's disease rs2632516-G of NONHSAT054945.2 is significantly associated with the alzheimer's disease by using GWAS analysis in 4,829 european ancestry cases//9,740 european ancestry controls//607 african american cases//2,270 african american controls//416 japanese ancestry cases//743 japanese ancestry controls//51 israeli-arab ancestry cases//64 israeli-arab ancestry controls; 2,751 european ancestry cases//11,497 european ancestry controls(p-value = 4E-8 ;OR = 1.0869565). 0.4 Transethnic genome-wide scan identifies novel Alzheimer's disease loci. NCRV0000002168 28107422 NONHSAT191834.1 rs4817986 ? N/A 91,953 european ancestry individuals (imputed to hapmap); EFO_0004623 N/A Associate Fibrinogen levels rs4817986-? of NONHSAT191834.1 is significantly associated with the fibrinogen levels by using GWAS analysis in 91,953 european ancestry individuals (imputed to hapmap); (p-value = 2E-14 ;OR = 0.0091). 0.4 Comparison of HapMap and 1000 Genomes Reference Panels in a Large-Scale Genome-Wide Association Study. NCRV0000003171 24931836 NONHSAT174934.1 rs7477 A N/A 4,377 european ancestry cases//13,017 european ancestry controls EFO_0000253 N/A Associate Amyotrophic lateral sclerosis rs7477-A of NONHSAT174934.1 is significantly associated with the amyotrophic lateral sclerosis by using GWAS analysis in 4,377 european ancestry cases//13,017 european ancestry controls(p-value = 3E-7 ;OR = 1.16). 0.4 C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis. NCRV0000003271 28548082 NONHSAT179793.1 rs7412 T N/A up to 1,476 mylopotamos (founder/genetic isolate) individuals//up to 1,737 pomak (founder/genetic isolate) individuals EFO_0000319 N/A Associate Total cholesterol levels rs7412-T of NONHSAT179793.1 is significantly associated with the total cholesterol levels by using GWAS analysis in up to 1,476 mylopotamos (founder/genetic isolate) individuals//up to 1,737 pomak (founder/genetic isolate) individuals(p-value = 1E-8 ;OR = 0.27). 0.4 Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits. NCRV0000002574 23284291 NONHSAT208254.1 rs3734729 A N/A 50,047 european ancestry individuals EFO_0003892 smoking interaction Associate Pulmonary function (smoking interaction) rs3734729-A of NONHSAT208254.1 is significantly associated with the pulmonary function (smoking interaction) by using GWAS analysis in 50,047 european ancestry individuals(p-value = 4E-7 ;OR = ?). 0.4 Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function. NCRV0000000184 28443625 NONHSAT004062.2 rs12401738 A N/A 98,173 european ancestry women//64,373 european ancestry men//5,829 european ancestry individuals//10,500 african american/afro-caribbean ancestry women//2,706 african american/afro-caribbean ancestry men//1,030 indian asian ancestry women//7,648 indian asian ancestry men//1,793 filipino ancestry women//2,944 hispanic/latino ancestry women//1,764 hispanic/latino ancestry men; 21,496 european ancestry women//24,385 european ancestry men//118,364 european ancestry individuals//2,326 african american/afro-caribbean ancestry women//855 african american/afro-caribbean ancestry men EFO_0001073 adjusted for smoking behaviour Associate Bmi (adjusted for smoking behaviour) rs12401738-A of NONHSAT004062.2 is significantly associated with the bmi (adjusted for smoking behaviour) by using GWAS analysis in 98,173 european ancestry women//64,373 european ancestry men//5,829 european ancestry individuals//10,500 african american/afro-caribbean ancestry women//2,706 african american/afro-caribbean ancestry men//1,030 indian asian ancestry women//7,648 indian asian ancestry men//1,793 filipino ancestry women//2,944 hispanic/latino ancestry women//1,764 hispanic/latino ancestry men; 21,496 european ancestry women//24,385 european ancestry men//118,364 european ancestry individuals//2,326 african american/afro-caribbean ancestry women//855 african american/afro-caribbean ancestry men(p-value = 4E-6 ;OR = 0.0208). 0.4 Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. NCRV0000000846 29058716 NONHSAT202082.1 rs3215401 A N/A 7,784 european ancestry carrier cases//7,782 european ancestry carrier controls; 1,630 european ancestry carrier cases//1,712 european ancestry carrier controls EFO_0000305 N/A Associate Breast cancer in brca1 mutation carriers rs3215401-A of NONHSAT202082.1 is significantly associated with the breast cancer in brca1 mutation carriers by using GWAS analysis in 7,784 european ancestry carrier cases//7,782 european ancestry carrier controls; 1,630 european ancestry carrier cases//1,712 european ancestry carrier controls(p-value = 3E-7 ;OR = 1.1111112). 0.4 Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer. NCRV0000000362 27863252 NONHSAT156778.1 rs4332427 G N/A 171,529 european ancestry individuals EFO_0005192 N/A Associate Red cell distribution width rs4332427-G of NONHSAT156778.1 is significantly associated with the red cell distribution width by using GWAS analysis in 171,529 european ancestry individuals(p-value = 9E-70 ;OR = 0.07325614). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003100 28928442 NONHSAT159991.1 rs199527622 ? N/A 46,936 european ancestry cases//74,874 european ancestry controls EFO_0007904 N/A Associate Childhood ear infection rs199527622-? of NONHSAT159991.1 is significantly associated with the childhood ear infection by using GWAS analysis in 46,936 european ancestry cases//74,874 european ancestry controls(p-value = 7E-6 ;OR = 0.1084). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. NCRV0000002638 27863252 NONHSAT204881.1 rs61745454 G N/A 172,435 european ancestry individuals EFO_0004308 N/A Associate White blood cell count rs61745454-G of NONHSAT204881.1 is significantly associated with the white blood cell count by using GWAS analysis in 172,435 european ancestry individuals(p-value = 1E-10 ;OR = 0.05719418). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000855 20676098 NONHSAT218827.1 rs7837688 ? N/A 1,583 japanese ancestry cases//3,386 japanese ancestry controls; 3,001 japanese ancestry cases//5,415 japanese ancestry controls EFO_0001663 N/A Associate Prostate cancer rs7837688-? of NONHSAT218827.1 is significantly associated with the prostate cancer by using GWAS analysis in 1,583 japanese ancestry cases//3,386 japanese ancestry controls; 3,001 japanese ancestry cases//5,415 japanese ancestry controls(p-value = 1E-25 ;OR = ?). 0.4 Genome-wide association study identifies five new susceptibility loci for prostate cancer in the Japanese population. NCRV0000000508 29059683 NONHSAT179207.1 rs17080623 G N/A 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls EFO_0000305 N/A Associate Breast cancer rs17080623-G of NONHSAT179207.1 is significantly associated with the breast cancer by using GWAS analysis in 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls(p-value = 5E-6 ;OR = 0.0344). 0.4 Association analysis identifies 65 new breast cancer risk loci. NCRV0000001827 23563607 NONHSAT206751.1 rs1885486 A N/A 8,097 european ancestry tall individuals//8,099 european ancestry short individuals; 4,872 european ancestry tall individuals//4,831 european ancestry short individuals EFO_0004339 N/A Associate Height rs1885486-A of NONHSAT206751.1 is significantly associated with the height by using GWAS analysis in 8,097 european ancestry tall individuals//8,099 european ancestry short individuals; 4,872 european ancestry tall individuals//4,831 european ancestry short individuals(p-value = 5E-17 ;OR = 1.18). 0.4 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. NCRV0000002128 22754043 NONHSAT156104.1 rs2065779 ? N/A 2,402 european ancestry individuals from 1,470 families EFO_0004698 caffeine-induced Associate Insomnia (caffeine-induced) rs2065779-? of NONHSAT156104.1 is significantly associated with the insomnia (caffeine-induced) by using GWAS analysis in 2,402 european ancestry individuals from 1,470 families(p-value = 3E-6 ;OR = 1.82). 0.4 A genome-wide association study of caffeine-related sleep disturbance: confirmation of a role for a common variant in the adenosine receptor. NCRV0000001021 26053186 NONHSAT115283.2 rs76846186 ? N/A 362 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//438 european ancestry current smoker individuals//449 latino current smoker individuals//704 japanese ancestry current smoker individuals EFO_0001071 in smokers Associate 3-hydroxypropylmercapturic acid levels in smokers rs76846186-? of NONHSAT115283.2 is significantly associated with the 3-hydroxypropylmercapturic acid levels in smokers by using GWAS analysis in 362 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//438 european ancestry current smoker individuals//449 latino current smoker individuals//704 japanese ancestry current smoker individuals(p-value = 2E-8 ;OR = 1.4779). 0.4 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. NCRV0000002676 26634245 NONHSAT047580.2 rs8040868 ? N/A 6,659 european ancestry current and former smoker individuals EFO_0003892 N/A Associate Pre bronchodilator fev1/fvc ratio rs8040868-? of NONHSAT047580.2 is significantly associated with the pre bronchodilator fev1/fvc ratio by using GWAS analysis in 6,659 european ancestry current and former smoker individuals(p-value = 2E-11 ;OR = 0.0173). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000003550 26989097 NONHSAT196902.1 rs9875578 ? N/A up to 902 european ancestry cases//up to 78 cases EFO_0006788 N/A Associate Response to cognitive-behavioural therapy in anxiety disorder rs9875578-? of NONHSAT196902.1 is significantly associated with the response to cognitive-behavioural therapy in anxiety disorder by using GWAS analysis in up to 902 european ancestry cases//up to 78 cases(p-value = 1E-6 ;OR = ?). 0.4 Genome-wide association study of response to cognitive-behavioural therapy in children with anxiety disorders. NCRV0000003837 27863252 NONHSAT192373.1 rs713909 C N/A 172,435 european ancestry individuals EFO_0004308 N/A Associate White blood cell count rs713909-C of NONHSAT192373.1 is significantly associated with the white blood cell count by using GWAS analysis in 172,435 european ancestry individuals(p-value = 1E-9 ;OR = 0.0220845). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002727 25760438 NONHSAT211028.1 rs149358103 ? N/A 89 martu australian aboriginal ancestry cases//302 martu australian aboriginal ancestry controls EFO_0001360 N/A Associate Type 2 diabetes rs149358103-? of NONHSAT211028.1 is significantly associated with the type 2 diabetes by using GWAS analysis in 89 martu australian aboriginal ancestry cases//302 martu australian aboriginal ancestry controls(p-value = 5E-6 ;OR = 0.58). 0.4 First genome-wide association study in an Australian aboriginal population provides insights into genetic risk factors for body mass index and type 2 diabetes. NCRV0000003096 20953190 NONHSAT003779.2 rs11209026 ? N/A 2,178 european ancestry cases//5,175 european ancestry controls; 3,174 european ancestry cases//5,464 european ancestry controls EFO_0000676 N/A Associate Psoriasis rs11209026-? of NONHSAT003779.2 is significantly associated with the psoriasis by using GWAS analysis in 2,178 european ancestry cases//5,175 european ancestry controls; 3,174 european ancestry cases//5,464 european ancestry controls(p-value = 7E-7 ;OR = 1.49). 0.4 A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1. NCRV0000003939 19578364 NONHSAT192354.1 rs2284063 ? N/A 1,539 european ancestry cases//3,917 european ancestry controls; 2,312 european ancestry cases//1,867 european ancestry controls EFO_0000756 N/A Associate Melanoma rs2284063-? of NONHSAT192354.1 is significantly associated with the melanoma by using GWAS analysis in 1,539 european ancestry cases//3,917 european ancestry controls; 2,312 european ancestry cases//1,867 european ancestry controls(p-value = 2E-9 ;OR = 1.2). 0.4 Genome-wide association study identifies three loci associated with melanoma risk. NCRV0000002156 28604730 NONHSAT004060.2 rs17382996 A N/A 2,355 european ancestry cases// 7,504 european ancestry controls EFO_0001071 in ever smokers Associate Lung cancer in never smokers rs17382996-A of NONHSAT004060.2 is significantly associated with the lung cancer in never smokers by using GWAS analysis in 2,355 european ancestry cases// 7,504 european ancestry controls(p-value = 4E-6 ;OR = 1.5072039). 0.4 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. NCRV0000002738 26198764 NONHSAT192447.1 rs2072883 A N/A 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls EFO_0000692 N/A Associate Schizophrenia rs2072883-A of NONHSAT192447.1 is significantly associated with the schizophrenia by using GWAS analysis in 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls(p-value = 6E-6 ;OR = 1.05). 0.4 Genome-wide association study of schizophrenia in Ashkenazi Jews. NCRV0000001119 28232668 NONHSAT192799.1 rs5763674 G N/A 2,033 han chinese ancestry cases//4,051 han chinese ancestry controls; 1,346 han chinese ancestry cases//4,542 han chinese ancestry controls EFO_0003959 N/A Associate Nonsyndromic cleft lip with cleft palate rs5763674-G of NONHSAT192799.1 is significantly associated with the nonsyndromic cleft lip with cleft palate by using GWAS analysis in 2,033 han chinese ancestry cases//4,051 han chinese ancestry controls; 1,346 han chinese ancestry cases//4,542 han chinese ancestry controls(p-value = 1E-7 ;OR = 1.26). 0.4 Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity. NCRV0000003825 20953189 NONHSAT176856.1 rs1975974 G N/A up to 1,831 cases//up to 2,546 controls; up to 4,064 cases//up to 4,685 controls EFO_0000676 N/A Associate Psoriasis rs1975974-G of NONHSAT176856.1 is significantly associated with the psoriasis by using GWAS analysis in up to 1,831 cases//up to 2,546 controls; up to 4,064 cases//up to 4,685 controls(p-value = 1E-7 ;OR = 1.17). 0.4 Genome-wide association analysis identifies three psoriasis susceptibility loci. NCRV0000003112 28537254 NONHSAT067101.2 rs492602 G N/A up to 11,988 european ancestry cases//up to 275,335 european ancestry controls; 7,044 european ancestry cases//11,434 european ancestry controls EFO_0000676 N/A Associate Psoriasis rs492602-G of NONHSAT067101.2 is significantly associated with the psoriasis by using GWAS analysis in up to 11,988 european ancestry cases//up to 275,335 european ancestry controls; 7,044 european ancestry cases//11,434 european ancestry controls(p-value = 7E-13 ;OR = 1.11). 0.4 Large scale meta-analysis characterizes genetic architecture for common psoriasis associated variants. NCRV0000000025 27182965 NONHSAT221727.1 rs10156578 ? N/A 53,109 european ancestry cases//230,876 european ancestry controls EFO_0003821 N/A Associate Migraine rs10156578-? of NONHSAT221727.1 is significantly associated with the migraine by using GWAS analysis in 53,109 european ancestry cases//230,876 european ancestry controls(p-value = 2E-8 ;OR = 1.0449321). 0.4 Detection and interpretation of shared genetic influences on 42 human traits. NCRV0000001014 20383146 NONHSAT217977.1 rs10109414 T N/A up to 67,093 european ancestry individuals; up to 22,982 european ancestry individuals EFO_0003884 N/A Associate Chronic kidney disease rs10109414-T of NONHSAT217977.1 is significantly associated with the chronic kidney disease by using GWAS analysis in up to 67,093 european ancestry individuals; up to 22,982 european ancestry individuals(p-value = 1E-8 ;OR = ?). 0.4 New loci associated with kidney function and chronic kidney disease. NCRV0000001775 20881960 NONHSAT188882.1 rs237743 A N/A 133,653 european ancestry individuals; 50,074 european ancestry individuals EFO_0004339 N/A Associate Height rs237743-A of NONHSAT188882.1 is significantly associated with the height by using GWAS analysis in 133,653 european ancestry individuals; 50,074 european ancestry individuals(p-value = 1E-20 ;OR = 0.041). 0.4 Hundreds of variants clustered in genomic loci and biological pathways affect human height. NCRV0000001507 28067908 NONHSAT067101.2 rs516246 ? N/A 12,194 european and unknown ancestry cases//28,072 european and unknown ancestry controls EFO_0000384 N/A Associate Crohn's disease rs516246-? of NONHSAT067101.2 is significantly associated with the crohn's disease by using GWAS analysis in 12,194 european and unknown ancestry cases//28,072 european and unknown ancestry controls(p-value = 4E-11 ;OR = ?). 0.4 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. NCRV0000002964 25811787 NONHSAT151853.1 rs10493773 G N/A up to 10,058 european ancestry male individuals//up to 7,189 european ancestry female individuals EFO_0004531 N/A Associate Urate levels in overweight individuals rs10493773-G of NONHSAT151853.1 is significantly associated with the urate levels in overweight individuals by using GWAS analysis in up to 10,058 european ancestry male individuals//up to 7,189 european ancestry female individuals(p-value = 9E-6 ;OR = 0.082). 0.4 Modulation of genetic associations with serum urate levels by body-mass-index in humans. NCRV0000002254 25378659 NONHSAT214689.1 rs579090 A N/A 10,129 european ancestry individuals EFO_0006796 N/A Associate Very long-chain saturated fatty acid levels (fatty acid 20:0) rs579090-A of NONHSAT214689.1 is significantly associated with the very long-chain saturated fatty acid levels (fatty acid 20:0) by using GWAS analysis in 10,129 european ancestry individuals(p-value = 8E-6 ;OR = 4.46). 0.4 Genetic loci associated with circulating levels of very long-chain saturated fatty acids. NCRV0000003543 22158537 NONHSAT174630.1 rs17797882 T N/A 5,999 east asian ancestry cases//9,001 east asian ancestry controls//794 malay ancestry cases//1,240 malay ancestry controls//159 filipino ancestry cases//1,624 filipino ancestry controls; 18,127 east asian ancestry cases//17,746 east asian ancestry controls EFO_0001360 N/A Associate Type 2 diabetes rs17797882-T of NONHSAT174630.1 is significantly associated with the type 2 diabetes by using GWAS analysis in 5,999 east asian ancestry cases//9,001 east asian ancestry controls//794 malay ancestry cases//1,240 malay ancestry controls//159 filipino ancestry cases//1,624 filipino ancestry controls; 18,127 east asian ancestry cases//17,746 east asian ancestry controls(p-value = 9E-7 ;OR = 1.08). 0.4 Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians. NCRV0000000639 27723809 NONHSAT105574.2 rs1863918 T N/A 45 japanese ancestry cases//179 japanese ancestry controls; 40 japanese ancestry cases//120 japanese ancestry controls EFO_0003761 interferon-based therapy in chronic hepatitis C Associate Depression in response to interferon-based therapy in chronic hepatitis c rs1863918-T of NONHSAT105574.2 is significantly associated with the depression in response to interferon-based therapy in chronic hepatitis c by using GWAS analysis in 45 japanese ancestry cases//179 japanese ancestry controls; 40 japanese ancestry cases//120 japanese ancestry controls(p-value = 8E-8 ;OR = 2.55). 0.4 Genome-Wide Association Study Identifies ZNF354C Variants Associated with Depression from Interferon-Based Therapy for Chronic Hepatitis C. NCRV0000000156 27846195 NONHSAT002270.2 rs45496701 G N/A 1,390 european ancestry cases EFO_0000692 paliperidone Associate Response to paliperidone in schizophrenia (negative marder score) rs45496701-G of NONHSAT002270.2 is significantly associated with the response to paliperidone in schizophrenia (negative marder score) by using GWAS analysis in 1,390 european ancestry cases(p-value = 9E-6 ;OR = 3.1538). 0.4 Genome-wide association study of paliperidone efficacy. NCRV0000000483 23049088 NONHSAT150909.1 rs12032643 ? N/A 187 european ancestry cases//1064 european ancestry controls; EFO_0004207 N/A Associate Myopia (pathological) rs12032643-? of NONHSAT150909.1 is significantly associated with the myopia (pathological) by using GWAS analysis in 187 european ancestry cases//1064 european ancestry controls; (p-value = 1E-9 ;OR = ?). 0.4 A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population. NCRV0000001569 27863252 NONHSAT015107.2 rs116052829 T N/A 166,066 european ancestry individuals EFO_0004309 N/A Associate Platelet count rs116052829-T of NONHSAT015107.2 is significantly associated with the platelet count by using GWAS analysis in 166,066 european ancestry individuals(p-value = 3E-10 ;OR = 0.03758511). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002198 21909115 NONHSAT189066.1 rs6015450 G N/A 69,395 european ancestry individuals; up to 133,361 european ancestry individuals EFO_0000537 N/A Associate Hypertension rs6015450-G of NONHSAT189066.1 is significantly associated with the hypertension by using GWAS analysis in 69,395 european ancestry individuals; up to 133,361 european ancestry individuals(p-value = 4E-14 ;OR = 0.11). 0.4 Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. NCRV0000002279 24390342 NONHSAT210486.1 rs2233424 T N/A up to 14,361 european ancestry cases//up to 42,923 european ancestry controls//up to 4,873 east asian ancestry cases//up to 17,642 east asian ancestry controls; up to 3,775 european ancestry cases//up to 5,801 european ancestry controls//up to 6,871 east asian ancestry cases//up to 6,392 east asian ancestry controls EFO_0000685 N/A Associate Rheumatoid arthritis rs2233424-T of NONHSAT210486.1 is significantly associated with the rheumatoid arthritis by using GWAS analysis in up to 14,361 european ancestry cases//up to 42,923 european ancestry controls//up to 4,873 east asian ancestry cases//up to 17,642 east asian ancestry controls; up to 3,775 european ancestry cases//up to 5,801 european ancestry controls//up to 6,871 east asian ancestry cases//up to 6,392 east asian ancestry controls(p-value = 3E-8 ;OR = 1.33). 0.4 Genetics of rheumatoid arthritis contributes to biology and drug discovery. NCRV0000002756 20195266 NONHSAT221109.1 rs320209 ? N/A 421 european ancestry//214 african american//and 103 cases GO_0097338 N/A Associate Response to antipsychotic treatment rs320209-? of NONHSAT221109.1 is significantly associated with the response to antipsychotic treatment by using GWAS analysis in 421 european ancestry//214 african american//and 103 cases(p-value = 4E-7 ;OR = ?). 0.4 Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs. NCRV0000002306 28928442 NONHSAT121567.2 rs79911532 ? N/A 17,457 european ancestry cases//68,446 european ancestry controls EFO_0008403 N/A Associate Mononucleosis rs79911532-? of NONHSAT121567.2 is significantly associated with the mononucleosis by using GWAS analysis in 17,457 european ancestry cases//68,446 european ancestry controls(p-value = 6E-6 ;OR = 0.1223). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. NCRV0000001622 20838585 NONHSAT179793.1 rs7412 ? N/A 525 european ancestry individuals; 2,442 finnish ancestry individuals EFO_0004611 N/A Associate Cardiovascular risk factors rs7412-? of NONHSAT179793.1 is significantly associated with the cardiovascular risk factors by using GWAS analysis in 525 european ancestry individuals; 2,442 finnish ancestry individuals(p-value = 9E-19 ;OR = 11.96). 0.4 Longitudinal genome-wide association of cardiovascular disease risk factors in the Bogalusa heart study. NCRV0000001359 19915575 NONHSAT156016.1 rs17115100 G N/A 1,713 european ancestry cases//3,978 european ancestry controls; 3,361 european ancestry cases//4,573 european ancestry controls EFO_0002508 N/A Associate Parkinson's disease rs17115100-G of NONHSAT156016.1 is significantly associated with the parkinson's disease by using GWAS analysis in 1,713 european ancestry cases//3,978 european ancestry controls; 3,361 european ancestry cases//4,573 european ancestry controls(p-value = 7E-8 ;OR = 1.25). 0.4 Genome-wide association study reveals genetic risk underlying Parkinson's disease. NCRV0000003008 28928442 NONHSAT187766.1 rs138302247 ? N/A 60,098 european ancestry cases//113,323 european ancestry controls EFO_0007924 N/A Associate Tonsillectomy rs138302247-? of NONHSAT187766.1 is significantly associated with the tonsillectomy by using GWAS analysis in 60,098 european ancestry cases//113,323 european ancestry controls(p-value = 3E-6 ;OR = 0.4152). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. NCRV0000003439 19862010 NONHSAT184699.1 rs2540917 C N/A 24,167 european ancestry individuals; 9,456 european ancestry individuals EFO_0004526 N/A Associate Mean corpuscular volume rs2540917-C of NONHSAT184699.1 is significantly associated with the mean corpuscular volume by using GWAS analysis in 24,167 european ancestry individuals; 9,456 european ancestry individuals(p-value = 1E-14 ;OR = 0.0). 0.4 Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. NCRV0000000910 23251661 NONHSAT220213.1 rs11539570 A N/A 815 hispanic children from 263 families EFO_0001073 N/A Associate Obesity-related traits rs11539570-A of NONHSAT220213.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 7E-6 ;OR = 0.02). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. NCRV0000001691 23934736 NONHSAT218796.1 rs4006531 A N/A 1,260 african american individuals EFO_0005275 N/A Associate Metabolite levels (dihydroxy docosatrienoic acid) rs4006531-A of NONHSAT218796.1 is significantly associated with the metabolite levels (dihydroxy docosatrienoic acid) by using GWAS analysis in 1,260 african american individuals(p-value = 7E-7 ;OR = 0.11). 0.4 Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study. NCRV0000001990 24684796 NONHSAT164324.1 rs3741489 C N/A 423 type 2 diabetes cases and 127 unaffected siblings from 257 families EFO_0003925 N/A Associate Cognitive function rs3741489-C of NONHSAT164324.1 is significantly associated with the cognitive function by using GWAS analysis in 423 type 2 diabetes cases and 127 unaffected siblings from 257 families(p-value = 2E-6 ;OR = 13.9397). 0.4 Heritability and genetic association analysis of cognition in the Diabetes Heart Study. NCRV0000002907 27863252 NONHSAT186311.1 rs4791 T N/A 170,761 european ancestry individuals EFO_0007986 N/A Associate High light scatter reticulocyte count rs4791-T of NONHSAT186311.1 is significantly associated with the high light scatter reticulocyte count by using GWAS analysis in 170,761 european ancestry individuals(p-value = 9E-16 ;OR = 0.0289765). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003013 27989323 NONHSAT098168.2 rs13143163 G N/A 3,685 finnish ancestry individuals EFO_0005140 N/A Associate Monokine induced by gamma interferon levels rs13143163-G of NONHSAT098168.2 is significantly associated with the monokine induced by gamma interferon levels by using GWAS analysis in 3,685 finnish ancestry individuals(p-value = 4E-6 ;OR = 0.2706). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. NCRV0000000799 26007630 NONHSAT208975.1 rs6919908 T N/A 2,194 european ancestry cases//222,555 european ancestry controls; 586 european ancestry cases//2,111 european ancestry controls EFO_0001378 N/A Associate Multiple myeloma rs6919908-T of NONHSAT208975.1 is significantly associated with the multiple myeloma by using GWAS analysis in 2,194 european ancestry cases//222,555 european ancestry controls; 586 european ancestry cases//2,111 european ancestry controls(p-value = 4E-10 ;OR = 0.25). 0.4 Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma. NCRV0000000635 27989323 NONHSAT221595.1 rs10809307 C N/A 3,685 finnish ancestry individuals EFO_0005140 N/A Associate Interferon gamma-induced protein 10 levels rs10809307-C of NONHSAT221595.1 is significantly associated with the interferon gamma-induced protein 10 levels by using GWAS analysis in 3,685 finnish ancestry individuals(p-value = 4E-6 ;OR = 0.1305). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. NCRV0000001104 21116278 NONHSAT152481.1 rs6686643 ? N/A 424 european ancestry mild cognitive impairment cases//236 european ancestry alzheimer's disease cases//279 european ancestry controls EFO_0003777 N/A Associate Total ventricular volume rs6686643-? of NONHSAT152481.1 is significantly associated with the total ventricular volume by using GWAS analysis in 424 european ancestry mild cognitive impairment cases//236 european ancestry alzheimer's disease cases//279 european ancestry controls(p-value = 7E-6 ;OR = 0.003). 0.4 Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease. NCRV0000000725 20041166 NONHSAT207105.1 rs2395029 G N/A 2,362 european ancestry cases EFO_0000180 N/A Associate Hiv-1 control rs2395029-G of NONHSAT207105.1 is significantly associated with the hiv-1 control by using GWAS analysis in 2,362 european ancestry cases(p-value = 5E-35 ;OR = 5.8). 0.4 Common genetic variation and the control of HIV-1 in humans. NCRV0000000931 26634245 NONHSAT204114.1 rs114955764 A N/A 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio in copd rs114955764-A of NONHSAT204114.1 is significantly associated with the post bronchodilator fev1/fvc ratio in copd by using GWAS analysis in 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases(p-value = 1E-6 ;OR = 0.075). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000002916 27863252 NONHSAT175429.1 rs56378716 G N/A 172,435 european ancestry individuals EFO_0004308 N/A Associate White blood cell count rs56378716-G of NONHSAT175429.1 is significantly associated with the white blood cell count by using GWAS analysis in 172,435 european ancestry individuals(p-value = 9E-13 ;OR = 0.1142649). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001235 19838193 NONHSAT115190.2 rs2230926 C N/A 1,047 han chinese ancestry cases//1,205 han chinese ancestry controls; 3,152 han chinese ancestry cases//7,050 han chinese ancestry controls EFO_0002690 N/A Associate Systemic lupus erythematosus rs2230926-C of NONHSAT115190.2 is significantly associated with the systemic lupus erythematosus by using GWAS analysis in 1,047 han chinese ancestry cases//1,205 han chinese ancestry controls; 3,152 han chinese ancestry cases//7,050 han chinese ancestry controls(p-value = 1E-17 ;OR = 1.72). 0.4 Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus. NCRV0000001813 23583979 NONHSAT204730.1 rs7722600 A N/A 85,787 european ancestry individuals//6,568 indian asian ancestry indiviudals; 88,823 european ancestry individuals MONDO_0000992 N/A Associate Heart rate rs7722600-A of NONHSAT204730.1 is significantly associated with the heart rate by using GWAS analysis in 85,787 european ancestry individuals//6,568 indian asian ancestry indiviudals; 88,823 european ancestry individuals(p-value = 3E-7 ;OR = ?). 0.4 Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. NCRV0000001254 17053108 NONHSAT158562.1 rs11200638 A N/A 96 south east asian ancestry cases//130 south east asian ancestry controls EFO_0001365 N/A Associate Age-related macular degeneration (wet) rs11200638-A of NONHSAT158562.1 is significantly associated with the age-related macular degeneration (wet) by using GWAS analysis in 96 south east asian ancestry cases//130 south east asian ancestry controls(p-value = 8E-12 ;OR = 1.6). 0.4 HTRA1 promoter polymorphism in wet age-related macular degeneration. NCRV0000002657 24105470 NONHSAT093848.2 rs266719 T N/A 7,827 east asian ancestry individuals; 10,252 east asian ancestry individuals EFO_0000319 N/A Associate Adiponectin levels rs266719-T of NONHSAT093848.2 is significantly associated with the adiponectin levels by using GWAS analysis in 7,827 east asian ancestry individuals; 10,252 east asian ancestry individuals(p-value = 7E-7 ;OR = 0.13). 0.4 A meta-analysis of genome-wide association studies for adiponectin levels in East Asians identifies a novel locus near WDR11-FGFR2. NCRV0000002201 22504420 NONHSAT176969.1 rs4792909 T N/A up to 32,961 european and east asian ancestry individuals; up to 50,933 european and east asian ancestry individuals EFO_0003923 N/A Associate Bone mineral density rs4792909-T of NONHSAT176969.1 is significantly associated with the bone mineral density by using GWAS analysis in up to 32,961 european and east asian ancestry individuals; up to 50,933 european and east asian ancestry individuals(p-value = 2E-11 ;OR = 0.04). 0.4 Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. NCRV0000000505 24165912 NONHSAT217864.1 rs2627282 A N/A 1,840 han chinese ancestry individuals; 659 han chinese ancestry individuals EFO_0006336 N/A Associate Blood pressure measurement (high sodium intervention) rs2627282-A of NONHSAT217864.1 is significantly associated with the blood pressure measurement (high sodium intervention) by using GWAS analysis in 1,840 han chinese ancestry individuals; 659 han chinese ancestry individuals(p-value = 6E-7 ;OR = 2.29). 0.4 Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese. NCRV0000002533 23319000 NONHSAT153547.1 rs4949316 G N/A up to 398 european ancestry individuals EFO_0005132 N/A Associate Metabolite levels (5-hiaa) rs4949316-G of NONHSAT153547.1 is significantly associated with the metabolite levels (5-hiaa) by using GWAS analysis in up to 398 european ancestry individuals(p-value = 9E-6 ;OR = 0.2127). 0.4 Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid. NCRV0000002045 26034056 NONHSAT216397.1 rs11986220 A N/A 6,406 european ancestry cases//601 african american cases//288 east asian ancestry cases//488 latino cases30,866 european ancestry controls//1,650 african american controls//2,938 east asian ancestry controls//3,141 latino controls; 4,599 european ancestry cases//2,265 african american cases//2,940 european ancestry controls//2,414 african american controls EFO_0001663 N/A Associate Prostate cancer rs11986220-A of NONHSAT216397.1 is significantly associated with the prostate cancer by using GWAS analysis in 6,406 european ancestry cases//601 african american cases//288 east asian ancestry cases//488 latino cases30,866 european ancestry controls//1,650 african american controls//2,938 east asian ancestry controls//3,141 latino controls; 4,599 european ancestry cases//2,265 african american cases//2,940 european ancestry controls//2,414 african american controls(p-value = 2E-40 ;OR = 1.56). 0.4 A large multiethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences. NCRV0000001105 20972438 NONHSAT180304.1 rs8102137 C N/A 3,532 european ancestry cases//5,120 european ancestry controls; 8,381 cases//48,275 controls EFO_0000292 N/A Associate Bladder cancer rs8102137-C of NONHSAT180304.1 is significantly associated with the bladder cancer by using GWAS analysis in 3,532 european ancestry cases//5,120 european ancestry controls; 8,381 cases//48,275 controls(p-value = 2E-11 ;OR = 1.13). 0.4 A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci. NCRV0000003265 28240269 NONHSAT061043.2 rs5498 G N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0004520 N/A Associate Blood protein levels rs5498-G of NONHSAT061043.2 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 8E-267 ;OR = 1.217). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. NCRV0000002833 28067908 NONHSAT216433.1 rs6651252 ? N/A 12,194 european and unknown ancestry cases//28,072 european and unknown ancestry controls EFO_0000384 N/A Associate Crohn's disease rs6651252-? of NONHSAT216433.1 is significantly associated with the crohn's disease by using GWAS analysis in 12,194 european and unknown ancestry cases//28,072 european and unknown ancestry controls(p-value = 9E-11 ;OR = ?). 0.4 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. NCRV0000002008 26831199 NONHSAT211806.1 rs2290263 A N/A 133,413 european ancestry individuals; 42,166 european ancestry individuals//up to 16,471 african ancestry individuals//up to 42,296 asian ancestry individuals EFO_0003884 creatinine Associate Glomerular filtration rate (creatinine) rs2290263-A of NONHSAT211806.1 is significantly associated with the glomerular filtration rate (creatinine) by using GWAS analysis in 133,413 european ancestry individuals; 42,166 european ancestry individuals//up to 16,471 african ancestry individuals//up to 42,296 asian ancestry individuals(p-value = 7E-7 ;OR = 0.0045). 0.4 Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function. NCRV0000003908 25524916 NONHSAT125262.2 rs4922265 ? N/A up to 4,176 mexican american individuals EFO_0001360 N/A Associate Glucose homeostasis traits rs4922265-? of NONHSAT125262.2 is significantly associated with the glucose homeostasis traits by using GWAS analysis in up to 4,176 mexican american individuals(p-value = 7E-6 ;OR = 2.11). 0.4 Genetic Variants Associated With Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium. NCRV0000002920 28566273 NONHSAT168677.1 rs10146997 G N/A up to 26,676 european ancestry cases//up to 132,532 european ancestry controls; 14,545 european ancestry cases//38,994 european ancestry controls EFO_0001360 N/A Associate Type 2 diabetes rs10146997-G of NONHSAT168677.1 is significantly associated with the type 2 diabetes by using GWAS analysis in up to 26,676 european ancestry cases//up to 132,532 european ancestry controls; 14,545 european ancestry cases//38,994 european ancestry controls(p-value = 2E-9 ;OR = 1.07). 0.4 An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans. NCRV0000003110 28892062 NONHSAT203162.1 rs4357030 T N/A up to 72,390 japanese ancestry women//up to 85,894 japanese ancestry men; up to 10,048 japanese ancestry women//up to 5,098 japanese ancestry men//up to 181,999 european ancestry women//up to 140,155 european ancestry controls EFO_0001073 N/A Associate Body mass index rs4357030-T of NONHSAT203162.1 is significantly associated with the body mass index by using GWAS analysis in up to 72,390 japanese ancestry women//up to 85,894 japanese ancestry men; up to 10,048 japanese ancestry women//up to 5,098 japanese ancestry men//up to 181,999 european ancestry women//up to 140,155 european ancestry controls(p-value = 4E-10 ;OR = 0.024). 0.4 Genome-wide association study identifies 112 new loci for body mass index in the Japanese population. NCRV0000000646 27863252 NONHSAT198706.1 rs16850073 T N/A 170,384 european ancestry individuals EFO_0009390 N/A Associate Sum neutrophil eosinophil counts rs16850073-T of NONHSAT198706.1 is significantly associated with the sum neutrophil eosinophil counts by using GWAS analysis in 170,384 european ancestry individuals(p-value = 2E-45 ;OR = 0.05262755). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000398 26634245 NONHSAT169870.1 rs116335274 G N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs116335274-G of NONHSAT169870.1 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 3E-6 ;OR = 0.286). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000000828 23453885 NONHSAT168038.1 rs12871532 T N/A 6,990 european ancestry bipolar disorder cases//9,227 european ancestry major depressive disorder cases//9,379 european ancestry schizophrenia cases//161 european ancestry autism spectrum disorder cases//4,788 european ancestry autism spectrum disorder trio cases//840 european ancestry attention deficit-hyperactivity disorder cases//1,947 european ancestry attention defcit-hyperactivity disorder trio cases//27,888 european ancestry controls EFO_0000677 N/A Associate Autism spectrum disorder//attention deficit-hyperactivity disorder//bipolar disorder//major depressive disorder//and schizophrenia (combined) rs12871532-T of NONHSAT168038.1 is significantly associated with the autism spectrum disorder//attention deficit-hyperactivity disorder//bipolar disorder//major depressive disorder//and schizophrenia (combined) by using GWAS analysis in 6,990 european ancestry bipolar disorder cases//9,227 european ancestry major depressive disorder cases//9,379 european ancestry schizophrenia cases//161 european ancestry autism spectrum disorder cases//4,788 european ancestry autism spectrum disorder trio cases//840 european ancestry attention deficit-hyperactivity disorder cases//1,947 european ancestry attention defcit-hyperactivity disorder trio cases//27,888 european ancestry controls(p-value = 1E-6 ;OR = 1.06). 0.4 Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. NCRV0000003902 28181694 NONHSAT037380.2 rs76734026 A N/A 488 european ancestry female children//445 european ancestry male children; 245 european ancestry female children//241 european ancestry male children EFO_0007933 N/A Associate Pediatric areal bone mineral density (radius) rs76734026-A of NONHSAT037380.2 is significantly associated with the pediatric areal bone mineral density (radius) by using GWAS analysis in 488 european ancestry female children//445 european ancestry male children; 245 european ancestry female children//241 european ancestry male children(p-value = 8E-6 ;OR = 0.316646). 0.4 A Genomewide Association Study Identifies Two Sex-Specific Loci, at SPTB and IZUMO3, Influencing Pediatric Bone Mineral Density at Multiple Skeletal Sites. NCRV0000002498 25387704 NONHSAT192181.1 rs7985 ? N/A 2,383 european ancestry adolescents and 1,643 european ancestry adults from 1,613 families EFO_0000677 N/A Associate Electroencephalogram traits rs7985-? of NONHSAT192181.1 is significantly associated with the electroencephalogram traits by using GWAS analysis in 2,383 european ancestry adolescents and 1,643 european ancestry adults from 1,613 families(p-value = 3E-6 ;OR = 0.068). 0.4 Heritability and molecular-genetic basis of resting EEG activity: a genome-wide association study. NCRV0000003116 26965516 NONHSAT157209.1 rs704017 G N/A 4,508 east asian ancestry cases//16,588 east asian ancestry controls; 11,044 east asian ancestry cases//18,036 east asian ancestry controls EFO_0005842 N/A Associate Colorectal cancer rs704017-G of NONHSAT157209.1 is significantly associated with the colorectal cancer by using GWAS analysis in 4,508 east asian ancestry cases//16,588 east asian ancestry controls; 11,044 east asian ancestry cases//18,036 east asian ancestry controls(p-value = 2E-8 ;OR = 1.1). 0.4 Identification of Susceptibility Loci and Genes for Colorectal Cancer Risk. NCRV0000002659 23934736 NONHSAT167496.1 rs9532969 C N/A 1,260 african american individuals EFO_0005276 N/A Associate Metabolite levels (x-11787) rs9532969-C of NONHSAT167496.1 is significantly associated with the metabolite levels (x-11787) by using GWAS analysis in 1,260 african american individuals(p-value = 3E-6 ;OR = 0.05). 0.4 Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study. NCRV0000002931 26830138 NONHSAT141048.2 rs145049847 C N/A 2,478 european ancestry cases//979 ancestry controls both from the same 1,070 families EFO_0000249 N/A Associate Alzheimer disease and age of onset rs145049847-C of NONHSAT141048.2 is significantly associated with the alzheimer disease and age of onset by using GWAS analysis in 2,478 european ancestry cases//979 ancestry controls both from the same 1,070 families(p-value = 8E-9 ;OR = 5.771). 0.4 Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3. NCRV0000001416 28928442 NONHSAT207108.1 rs1052248 A N/A 60,098 european ancestry cases//113,323 european ancestry controls EFO_0007924 N/A Associate Tonsillectomy rs1052248-A of NONHSAT207108.1 is significantly associated with the tonsillectomy by using GWAS analysis in 60,098 european ancestry cases//113,323 european ancestry controls(p-value = 3E-17 ;OR = 1.05). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. NCRV0000002971 18794853 NONHSAT155025.1 rs4750316 G N/A 3,393 european ancestry cases//12,460 european ancestry controls; 3,929 european ancestry cases//5,807 european ancestry controls EFO_0000685 N/A Associate Rheumatoid arthritis rs4750316-G of NONHSAT155025.1 is significantly associated with the rheumatoid arthritis by using GWAS analysis in 3,393 european ancestry cases//12,460 european ancestry controls; 3,929 european ancestry cases//5,807 european ancestry controls(p-value = 4E-6 ;OR = 1.14). 0.4 Common variants at CD40 and other loci confer risk of rheumatoid arthritis. NCRV0000002316 24529757 NONHSAT191849.1 rs9977018 ? N/A 250 han chinese ancestry cases//250 han chinese ancestry controls EFO_0001357 N/A Associate Amyotrophic lateral sclerosis (sporadic) rs9977018-? of NONHSAT191849.1 is significantly associated with the amyotrophic lateral sclerosis (sporadic) by using GWAS analysis in 250 han chinese ancestry cases//250 han chinese ancestry controls(p-value = 2E-9 ;OR = ?). 0.4 Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations. NCRV0000000010 28166213 NONHSAT119105.2 rs10246303 T N/A 48,943 european ancestry individuals; 57,176 european ancestry individuals//38,199 individuals. EFO_0000341 N/A Associate Lung function (fev1/fvc) rs10246303-T of NONHSAT119105.2 is significantly associated with the lung function (fev1/fvc) by using GWAS analysis in 48,943 european ancestry individuals; 57,176 european ancestry individuals//38,199 individuals.(p-value = 2E-8 ;OR = 0.022). 0.4 Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets. NCRV0000003217 26634245 NONHSAT215353.1 rs143335239 A N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs143335239-A of NONHSAT215353.1 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 3E-6 ;OR = 0.271). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000003657 23648065 NONHSAT214390.1 rs6961860 G N/A 371 japanese ancestry cases//825 japanese ancestry controls DOID_1227 all antimetabolite drugs Associate Adverse response to chemotherapy (neutropenia/leucopenia) rs6961860-G of NONHSAT214390.1 is significantly associated with the adverse response to chemotherapy (neutropenia/leucopenia) by using GWAS analysis in 371 japanese ancestry cases//825 japanese ancestry controls(p-value = 5E-6 ;OR = 1.283). 0.4 Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan. NCRV0000001628 28135244 NONHSAT216500.1 rs894344 A N/A 140,882 european ancestry individuals; 190,318 european ancestry individuals EFO_0000319 N/A Associate Systolic blood pressure rs894344-A of NONHSAT216500.1 is significantly associated with the systolic blood pressure by using GWAS analysis in 140,882 european ancestry individuals; 190,318 european ancestry individuals(p-value = 3E-8 ;OR = 0.258). 0.4 Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk. NCRV0000001878 28441456 NONHSAT220332.1 rs12003807 C N/A 2,187 european ancestry individuals EFO_0007858 N/A Associate Facial morphology (factor 2//vertical position of orbits relative to midface) rs12003807-C of NONHSAT220332.1 is significantly associated with the facial morphology (factor 2//vertical position of orbits relative to midface) by using GWAS analysis in 2,187 european ancestry individuals(p-value = 2E-6 ;OR = 0.5843). 0.4 Genome-wide association study of facial morphology reveals novel associations with FREM1 and PARK2. NCRV0000000220 28270201 NONHSAT170325.1 rs187209742 G N/A 19,695 british ancestry individuals from 6863 families. EFO_0007788 N/A Associate Waist-to-hip ratio adjusted for body mass index rs187209742-G of NONHSAT170325.1 is significantly associated with the waist-to-hip ratio adjusted for body mass index by using GWAS analysis in 19,695 british ancestry individuals from 6863 families.(p-value = 5E-8 ;OR = 0.7211519). 0.4 Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants. NCRV0000003945 28139693 NONHSAT179899.1 rs11665748 ? N/A 28,503 european ancestry individuals; 2,716 latino individuals//2,518 east asian ancestry individuals//1,585 african american individuals//6,193 european ancestry individuals (later diagnosed with prostate cancer) EFO_0001663 N/A Associate Prostate-specific antigen levels (conditioned on lead snps) rs11665748-? of NONHSAT179899.1 is significantly associated with the prostate-specific antigen levels (conditioned on lead snps) by using GWAS analysis in 28,503 european ancestry individuals; 2,716 latino individuals//2,518 east asian ancestry individuals//1,585 african american individuals//6,193 european ancestry individuals (later diagnosed with prostate cancer)(p-value = 3E-54 ;OR = 0.09). 0.4 Genome-wide association study of prostate-specific antigen levels identifies novel loci independent of prostate cancer. NCRV0000001106 26822151 NONHSAT183488.1 rs715 C N/A 1,985 individuals; 1,895 individuals EFO_0000378 N/A Associate Betaine levels in individuals undergoing cardiac evaluation rs715-C of NONHSAT183488.1 is significantly associated with the betaine levels in individuals undergoing cardiac evaluation by using GWAS analysis in 1,985 individuals; 1,895 individuals(p-value = 1E-8 ;OR = 0.05). 0.4 Genome-wide association study and targeted metabolomics identifies sex-specific association of CPS1 with coronary artery disease. NCRV0000002745 27798624 NONHSAT203013.1 rs9326726 A N/A 127,919 european ancestry individuals//2,478 asian ancestry individuals//1,734 black individuals//684 mixed ancestry individuals//1,436 individuals; 130,795 european ancestry individuals EFO_0003777 N/A Associate Resting heart rate rs9326726-A of NONHSAT203013.1 is significantly associated with the resting heart rate by using GWAS analysis in 127,919 european ancestry individuals//2,478 asian ancestry individuals//1,734 black individuals//684 mixed ancestry individuals//1,436 individuals; 130,795 european ancestry individuals(p-value = 4E-8 ;OR = 0.29). 0.4 Identification of genomic loci associated with resting heart rate and shared genetic predictors with all-cause mortality. NCRV0000003548 25017104 NONHSAT172113.1 rs8041227 G N/A 657 european ancestry cases//9,296 european ancestry controls EFO_0004232 N/A Associate Eosinophilic esophagitis rs8041227-G of NONHSAT172113.1 is significantly associated with the eosinophilic esophagitis by using GWAS analysis in 657 european ancestry cases//9,296 european ancestry controls(p-value = 6E-10 ;OR = 1.52). 0.4 Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease. NCRV0000001200 24165912 NONHSAT217864.1 rs2627282 A N/A 1,840 han chinese ancestry individuals; 659 han chinese ancestry individuals EFO_0006340 N/A Associate Blood pressure measurement (high sodium intervention) rs2627282-A of NONHSAT217864.1 is significantly associated with the blood pressure measurement (high sodium intervention) by using GWAS analysis in 1,840 han chinese ancestry individuals; 659 han chinese ancestry individuals(p-value = 3E-7 ;OR = 2.33). 0.4 Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese. NCRV0000002774 27989323 NONHSAT141763.2 rs72793342 G N/A 3,421 finnish ancestry individuals EFO_0005140 N/A Associate Rantes levels rs72793342-G of NONHSAT141763.2 is significantly associated with the rantes levels by using GWAS analysis in 3,421 finnish ancestry individuals(p-value = 1E-6 ;OR = 0.1487). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. NCRV0000000701 27863252 NONHSAT215396.1 rs4841132 G N/A 171,542 european ancestry individuals EFO_0007990 N/A Associate Neutrophil percentage of white cells rs4841132-G of NONHSAT215396.1 is significantly associated with the neutrophil percentage of white cells by using GWAS analysis in 171,542 european ancestry individuals(p-value = 3E-11 ;OR = 0.04101722). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001879 27680694 NONHSAT172051.1 rs7402982 A N/A 133,903 european ancestry individuals//6,635 african american individuals//420 turkish ancestry individuals//365 moroccan ancestry individuals//395 surinamese ancestry individuals//840 chinese ancestry individuals.; 9,799 european ancestry individuals//1,449 filipino ancestry individuals. EFO_0004344 N/A Associate Birth weight rs7402982-A of NONHSAT172051.1 is significantly associated with the birth weight by using GWAS analysis in 133,903 european ancestry individuals//6,635 african american individuals//420 turkish ancestry individuals//365 moroccan ancestry individuals//395 surinamese ancestry individuals//840 chinese ancestry individuals.; 9,799 european ancestry individuals//1,449 filipino ancestry individuals.(p-value = 1E-9 ;OR = 0.0231). 0.4 Genome-wide associations for birth weight and correlations with adult disease. NCRV0000002517 26053186 NONHSAT143019.2 rs3743714 ? N/A 362 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//438 european ancestry current smoker individuals//449 latino current smoker individuals//704 japanese ancestry current smoker individuals EFO_0001071 in smokers Associate 3-hydroxypropylmercapturic acid levels in smokers rs3743714-? of NONHSAT143019.2 is significantly associated with the 3-hydroxypropylmercapturic acid levels in smokers by using GWAS analysis in 362 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//438 european ancestry current smoker individuals//449 latino current smoker individuals//704 japanese ancestry current smoker individuals(p-value = 7E-6 ;OR = 0.4757). 0.4 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. NCRV0000000058 29059683 NONHSAT182525.1 rs4849887 C N/A 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls EFO_0000305 N/A Associate Breast cancer rs4849887-C of NONHSAT182525.1 is significantly associated with the breast cancer by using GWAS analysis in 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls(p-value = 7E-20 ;OR = 1.098901). 0.4 Association analysis identifies 65 new breast cancer risk loci. NCRV0000000018 25282103 NONHSAT202867.1 rs6894139 T N/A 253,288 european ancestry individuals; 80,067 european ancestry individuals EFO_0004339 N/A Associate Height rs6894139-T of NONHSAT202867.1 is significantly associated with the height by using GWAS analysis in 253,288 european ancestry individuals; 80,067 european ancestry individuals(p-value = 6E-24 ;OR = 0.03). 0.4 Defining the role of common variation in the genomic and biological architecture of adult human height. NCRV0000000753 28240269 NONHSAT191763.1 rs990529 G N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008326 N/A Associate Blood protein levels rs990529-G of NONHSAT191763.1 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 2E-15 ;OR = 0.3289). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. NCRV0000000734 26634245 NONHSAT047596.2 rs8027972 T N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs8027972-T of NONHSAT047596.2 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 1E-6 ;OR = 0.048). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000002948 20881960 NONHSAT112146.2 rs6938239 ? N/A 133,653 european ancestry individuals; 50,074 european ancestry individuals EFO_0004339 N/A Associate Height rs6938239-? of NONHSAT112146.2 is significantly associated with the height by using GWAS analysis in 133,653 european ancestry individuals; 50,074 european ancestry individuals(p-value = 6E-12 ;OR = ?). 0.4 Hundreds of variants clustered in genomic loci and biological pathways affect human height. NCRV0000001055 27989323 NONHSAT168677.1 rs74811276 G N/A 3,364 finnish ancestry individuals EFO_0005140 N/A Associate Interleukin-5 levels rs74811276-G of NONHSAT168677.1 is significantly associated with the interleukin-5 levels by using GWAS analysis in 3,364 finnish ancestry individuals(p-value = 6E-6 ;OR = 0.2152). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. NCRV0000001288 21326311 NONHSAT203062.1 rs17135859 C N/A 440 african american individuals Orphanet_232 N/A Associate F-cell distribution rs17135859-C of NONHSAT203062.1 is significantly associated with the f-cell distribution by using GWAS analysis in 440 african american individuals(p-value = 8E-6 ;OR = 0.97). 0.4 Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients. NCRV0000001130 27798624 NONHSAT130992.2 rs748802 A N/A 127,919 european ancestry individuals//2,478 asian ancestry individuals//1,734 black individuals//684 mixed ancestry individuals//1,436 individuals; 130,795 european ancestry individuals EFO_0003777 N/A Associate Resting heart rate rs748802-A of NONHSAT130992.2 is significantly associated with the resting heart rate by using GWAS analysis in 127,919 european ancestry individuals//2,478 asian ancestry individuals//1,734 black individuals//684 mixed ancestry individuals//1,436 individuals; 130,795 european ancestry individuals(p-value = 1E-8 ;OR = 0.2022). 0.4 Identification of genomic loci associated with resting heart rate and shared genetic predictors with all-cause mortality. NCRV0000000738 28928442 NONHSAT211331.1 rs138560005 ? N/A 2,442 european ancestry cases//217,137 european ancestry controls EFO_0008415 N/A Associate Hepatitis a rs138560005-? of NONHSAT211331.1 is significantly associated with the hepatitis a by using GWAS analysis in 2,442 european ancestry cases//217,137 european ancestry controls(p-value = 6E-6 ;OR = 7.7623). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. NCRV0000003725 20385826 NONHSAT150262.1 rs1061170 ? N/A 979 cases//1,709 controls; 868 european ancestry cases//410 european ancestry controls//4,921 cases//3,824 controls EFO_0001365 N/A Associate Age-related macular degeneration rs1061170-? of NONHSAT150262.1 is significantly associated with the age-related macular degeneration by using GWAS analysis in 979 cases//1,709 controls; 868 european ancestry cases//410 european ancestry controls//4,921 cases//3,824 controls(p-value = 4E-117 ;OR = ?). 0.4 Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC). NCRV0000002785 26028593 NONHSAT192799.1 rs12537 C N/A 1,434 han chinese ancestry cases//10,661 han chinese ancestry controls; 6,879 han chinese ancestry cases//9,019 han chinese ancestry controls EFO_0004194 N/A Associate Iga nephropathy rs12537-C of NONHSAT192799.1 is significantly associated with the iga nephropathy by using GWAS analysis in 1,434 han chinese ancestry cases//10,661 han chinese ancestry controls; 6,879 han chinese ancestry cases//9,019 han chinese ancestry controls(p-value = 3E-9 ;OR = 1.407). 0.4 Identification of new susceptibility loci for IgA nephropathy in Han Chinese. NCRV0000000308 24625756 NONHSAT071625.2 rs13538 A N/A 1,260 african american individuals EFO_0005653 N/A Associate Serum metabolite levels rs13538-A of NONHSAT071625.2 is significantly associated with the serum metabolite levels by using GWAS analysis in 1,260 african american individuals(p-value = 4E-66 ;OR = 0.3). 0.4 Genetic determinants influencing human serum metabolome among African Americans. NCRV0000001680 26763881 NONHSAT215498.1 rs328 G N/A 2,994 japanese ancestry individuals; 6,805 korean ancestry individuals EFO_0000319 N/A Associate Hdl cholesterol levels rs328-G of NONHSAT215498.1 is significantly associated with the hdl cholesterol levels by using GWAS analysis in 2,994 japanese ancestry individuals; 6,805 korean ancestry individuals(p-value = 6E-7 ;OR = 0.24). 0.4 Genome-wide association study of serum lipids confirms previously reported associations as well as new associations of common SNPs within PCSK7 gene with triglyceride. NCRV0000001520 26634245 NONHSAT205668.1 rs76640434 A N/A 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio in copd rs76640434-A of NONHSAT205668.1 is significantly associated with the post bronchodilator fev1/fvc ratio in copd by using GWAS analysis in 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases(p-value = 1E-6 ;OR = 0.071). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000001546 26634245 NONHSAT197679.1 rs140910939 T N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs140910939-T of NONHSAT197679.1 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 2E-7 ;OR = 2.096). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000003640 20585627 NONHSAT218990.1 rs13263959 ? N/A 9,126 european ancestry individuals EFO_0003924 N/A Associate Hair color rs13263959-? of NONHSAT218990.1 is significantly associated with the hair color by using GWAS analysis in 9,126 european ancestry individuals(p-value = 8E-7 ;OR = ?). 0.4 Web-based, participant-driven studies yield novel genetic associations for common traits. NCRV0000000280 28240269 NONHSAT196716.1 rs5030062 C N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008260 N/A Associate Blood protein levels rs5030062-C of NONHSAT196716.1 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 2E-35 ;OR = 0.5188). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. NCRV0000003066 29235454 NONHSAT194637.1 rs11710845 ? N/A 56,819 european ancestry individuals//5,748 hispanic/latino individuals//5,119 east asian ancestry individuals//2,070 african american individuals; 37,930 european and asian ancestry individuals EFO_0004695 N/A Associate Intraocular pressure rs11710845-? of NONHSAT194637.1 is significantly associated with the intraocular pressure by using GWAS analysis in 56,819 european ancestry individuals//5,748 hispanic/latino individuals//5,119 east asian ancestry individuals//2,070 african american individuals; 37,930 european and asian ancestry individuals(p-value = 7E-9 ;OR = 0.09). 0.4 A large multi-ethnic genome-wide association study identifies novel genetic loci for intraocular pressure. NCRV0000000856 27863252 NONHSAT187909.1 rs7585866 G N/A 166,066 european ancestry individuals EFO_0004309 N/A Associate Platelet count rs7585866-G of NONHSAT187909.1 is significantly associated with the platelet count by using GWAS analysis in 166,066 european ancestry individuals(p-value = 1E-9 ;OR = 0.02336802). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001256 28270201 NONHSAT215396.1 rs4841133 G N/A 19,259 british ancestry individuals from 6863 families. EFO_0000319 N/A Associate Cholesterol//total rs4841133-G of NONHSAT215396.1 is significantly associated with the cholesterol//total by using GWAS analysis in 19,259 british ancestry individuals from 6863 families.(p-value = 3E-9 ;OR = 0.11155177). 0.4 Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants. NCRV0000003531 28135244 NONHSAT091726.2 rs17282160 T N/A 140,886 european ancestry individuals; 190,318 european ancestry individuals EFO_0006336 N/A Associate Diastolic blood pressure rs17282160-T of NONHSAT091726.2 is significantly associated with the diastolic blood pressure by using GWAS analysis in 140,886 european ancestry individuals; 190,318 european ancestry individuals(p-value = 5E-6 ;OR = 0.1578). 0.4 Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk. NCRV0000002574 21946350 NONHSAT208254.1 rs3734729 G N/A 48,201 european ancestry individuals; 46,411 european ancestry individuals EFO_0003892 N/A Associate Pulmonary function rs3734729-G of NONHSAT208254.1 is significantly associated with the pulmonary function by using GWAS analysis in 48,201 european ancestry individuals; 46,411 european ancestry individuals(p-value = 4E-6 ;OR = 0.055). 0.4 Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function. NCRV0000000347 28017375 NONHSAT207026.1 rs13219787 ? N/A up to 40,258 european ancestry individuals//16,128 african american individuals//up to 15,252 east asian ancestry individuals.; 16,389 european and african american individuals EFO_0004509 N/A Associate Hemoglobin levels rs13219787-? of NONHSAT207026.1 is significantly associated with the hemoglobin levels by using GWAS analysis in up to 40,258 european ancestry individuals//16,128 african american individuals//up to 15,252 east asian ancestry individuals.; 16,389 european and african american individuals(p-value = 1E-8 ;OR = ?). 0.4 Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis. NCRV0000000062 23350875 NONHSAT089495.2 rs8180040 ? N/A 882 european ancestry cases//473 european ancestry controls; 1,436 european ancestry cases//1,780 european ancestry controls EFO_0005842 N/A Associate Colorectal cancer rs8180040-? of NONHSAT089495.2 is significantly associated with the colorectal cancer by using GWAS analysis in 882 european ancestry cases//473 european ancestry controls; 1,436 european ancestry cases//1,780 european ancestry controls(p-value = 2E-6 ;OR = 1.28). 0.4 A colorectal cancer genome-wide association study in a Spanish cohort identifies two variants associated with colorectal cancer risk at 1p33 and 8p12. NCRV0000000305 28270201 NONHSAT140806.2 rs571835655 A N/A 19,480 british ancestry individuals from 6863 families. EFO_0001073 N/A Associate Body fat percentage rs571835655-A of NONHSAT140806.2 is significantly associated with the body fat percentage by using GWAS analysis in 19,480 british ancestry individuals from 6863 families.(p-value = 2E-8 ;OR = 7.2517734). 0.4 Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants. NCRV0000000746 28441456 NONHSAT200553.1 rs73856289 C N/A 2,187 european ancestry individuals EFO_0007841 N/A Associate Facial morphology (factor 20) rs73856289-C of NONHSAT200553.1 is significantly associated with the facial morphology (factor 20) by using GWAS analysis in 2,187 european ancestry individuals(p-value = 4E-6 ;OR = 0.1779). 0.4 Genome-wide association study of facial morphology reveals novel associations with FREM1 and PARK2. NCRV0000002310 21909115 NONHSAT108210.2 rs1799945 G N/A 69,395 european ancestry individuals; up to 133,361 european ancestry individuals EFO_0006336 N/A Associate Diastolic blood pressure rs1799945-G of NONHSAT108210.2 is significantly associated with the diastolic blood pressure by using GWAS analysis in 69,395 european ancestry individuals; up to 133,361 european ancestry individuals(p-value = 2E-15 ;OR = 0.457). 0.4 Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. NCRV0000002362 22139419 NONHSAT180207.1 rs8109288 A N/A 13,106 european ancestry individuals//1,652 val borbera (founder/genetic isolate) individuals//593 carlantino (founder/genetic isolate) individuals//1,146 friuli venezia giulia (founder/genetic isolate) individuals//1,213 south tyrolean (founder/genetic isolate) individuals//890 sorbian (founder/genetic isolate) individuals; up to 16,960 european ancestry individuals//855 cliento (founder/genetic isolate) individuals//1,023 talana (founder/genetic isolate) individuals EFO_0004584 N/A Associate Mean platelet volume rs8109288-A of NONHSAT180207.1 is significantly associated with the mean platelet volume by using GWAS analysis in 13,106 european ancestry individuals//1,652 val borbera (founder/genetic isolate) individuals//593 carlantino (founder/genetic isolate) individuals//1,146 friuli venezia giulia (founder/genetic isolate) individuals//1,213 south tyrolean (founder/genetic isolate) individuals//890 sorbian (founder/genetic isolate) individuals; up to 16,960 european ancestry individuals//855 cliento (founder/genetic isolate) individuals//1,023 talana (founder/genetic isolate) individuals(p-value = 1E-11 ;OR = 0.029). 0.4 New gene functions in megakaryopoiesis and platelet formation. NCRV0000001544 27416945 NONHSAT188982.1 rs6013915 A N/A 16,753 european ancestry individuals; 13,354 european ancestry individuals EFO_0001360 BMI interaction Associate Modified stumvoll insulin sensitivity index (bmi interaction) rs6013915-A of NONHSAT188982.1 is significantly associated with the modified stumvoll insulin sensitivity index (bmi interaction) by using GWAS analysis in 16,753 european ancestry individuals; 13,354 european ancestry individuals(p-value = 2E-9 ;OR = 0.03705). 0.4 Genome-Wide Association Study of the Modified Stumvoll Insulin Sensitivity Index Identifies BCL2 and FAM19A2 as Novel Insulin Sensitivity Loci. NCRV0000003373 25760438 NONHSAT167522.1 rs79490558 ? N/A 89 martu australian aboriginal ancestry cases//302 martu australian aboriginal ancestry controls EFO_0001360 N/A Associate Type 2 diabetes rs79490558-? of NONHSAT167522.1 is significantly associated with the type 2 diabetes by using GWAS analysis in 89 martu australian aboriginal ancestry cases//302 martu australian aboriginal ancestry controls(p-value = 1E-6 ;OR = 0.31). 0.4 First genome-wide association study in an Australian aboriginal population provides insights into genetic risk factors for body mass index and type 2 diabetes. NCRV0000000989 19198613 NONHSAT168306.1 rs944289 T N/A 192 european ancestry cases//37,196 european ancestry controls; 432 european ancestry cases//1,727 european ancestry controls EFO_0002892 N/A Associate Thyroid cancer rs944289-T of NONHSAT168306.1 is significantly associated with the thyroid cancer by using GWAS analysis in 192 european ancestry cases//37,196 european ancestry controls; 432 european ancestry cases//1,727 european ancestry controls(p-value = 2E-9 ;OR = 1.37). 0.4 Common variants on 9q22.33 and 14q13.3 predispose to thyroid cancer in European populations. NCRV0000002886 24578125 NONHSAT140921.2 rs12917707 T N/A 10,884 european ancestry individuals EFO_0005663 N/A Associate Urinary uromodulin levels rs12917707-T of NONHSAT140921.2 is significantly associated with the urinary uromodulin levels by using GWAS analysis in 10,884 european ancestry individuals(p-value = 8E-73 ;OR = 0.32). 0.4 Common variants in UMOD associate with urinary uromodulin levels: a meta-analysis. NCRV0000000455 19915575 NONHSAT200200.1 rs2736990 C N/A 1,713 european ancestry cases//3,978 european ancestry controls; 3,361 european ancestry cases//4,573 european ancestry controls EFO_0002508 N/A Associate Parkinson's disease rs2736990-C of NONHSAT200200.1 is significantly associated with the parkinson's disease by using GWAS analysis in 1,713 european ancestry cases//3,978 european ancestry controls; 3,361 european ancestry cases//4,573 european ancestry controls(p-value = 2E-16 ;OR = 1.23). 0.4 Genome-wide association study reveals genetic risk underlying Parkinson's disease. NCRV0000002165 26584805 NONHSAT174062.1 rs2288061 G N/A 717 singaporean chinese ancestry myocardial infarction cases//644 singaporean chinese ancestry controls EFO_0007764 N/A Associate Delta-5 desaturase activity rs2288061-G of NONHSAT174062.1 is significantly associated with the delta-5 desaturase activity by using GWAS analysis in 717 singaporean chinese ancestry myocardial infarction cases//644 singaporean chinese ancestry controls(p-value = 7E-6 ;OR = 0.0904). 0.4 A genome-wide association study of n-3 and n-6 plasma fatty acids in a Singaporean Chinese population. NCRV0000001770 27863252 NONHSAT055443.2 rs60432162 C N/A 172,275 european ancestry individuals EFO_0004842 N/A Associate Eosinophil counts rs60432162-C of NONHSAT055443.2 is significantly associated with the eosinophil counts by using GWAS analysis in 172,275 european ancestry individuals(p-value = 6E-19 ;OR = 0.04065155). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001912 23326517 NONHSAT074001.2 rs6721654 T N/A 3,772 european ancestry cases//16,033 european ancestry controls; 264 asian ancestry cases//3,926 asian ancestry controls EFO_0001365 N/A Associate Age-related macular degeneration rs6721654-T of NONHSAT074001.2 is significantly associated with the age-related macular degeneration by using GWAS analysis in 3,772 european ancestry cases//16,033 european ancestry controls; 264 asian ancestry cases//3,926 asian ancestry controls(p-value = 7E-6 ;OR = 1.26). 0.4 Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis. NCRV0000002446 22589738 NONHSAT161170.1 rs12285276 G N/A 5,560 european ancestry female individuals//4,997 european ancestry male individuals EFO_0004765 N/A Associate Visceral fat rs12285276-G of NONHSAT161170.1 is significantly associated with the visceral fat by using GWAS analysis in 5,560 european ancestry female individuals//4,997 european ancestry male individuals(p-value = 9E-6 ;OR = ?). 0.4 Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. NCRV0000001797 23251661 NONHSAT148458.1 rs6686929 G N/A 815 hispanic children from 263 families EFO_0004730 N/A Associate Obesity-related traits rs6686929-G of NONHSAT148458.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 3E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. NCRV0000002780 28416818 NONHSAT016186.2 rs11598047 G N/A 8,656 european ancestry cases//102,776 european ancestry controls.; EFO_0000275 N/A Associate Atrial fibrillation rs11598047-G of NONHSAT016186.2 is significantly associated with the atrial fibrillation by using GWAS analysis in 8,656 european ancestry cases//102,776 european ancestry controls.; (p-value = 3E-21 ;OR = 1.18). 0.4 Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation. NCRV0000002230 29059683 NONHSAT164418.1 rs12422552 C N/A 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls EFO_0000305 N/A Associate Breast cancer rs12422552-C of NONHSAT164418.1 is significantly associated with the breast cancer by using GWAS analysis in 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls(p-value = 4E-15 ;OR = 1.06). 0.4 Association analysis identifies 65 new breast cancer risk loci. NCRV0000003371 18264097 NONHSAT216393.1 rs1016343 T N/A 1,854 european ancestry cases//1,894 european ancestry controls; 3,268 european ancestry cases//3,366 european ancestry controls EFO_0001663 N/A Associate Prostate cancer rs1016343-T of NONHSAT216393.1 is significantly associated with the prostate cancer by using GWAS analysis in 1,854 european ancestry cases//1,894 european ancestry controls; 3,268 european ancestry cases//3,366 european ancestry controls(p-value = 1E-7 ;OR = 1.37). 0.4 Multiple newly identified loci associated with prostate cancer susceptibility. NCRV0000001053 21037568 NONHSAT011305.2 rs501764 C N/A 589 european ancestry cases//5,199 european ancestry controls; 2,057 european ancestry cases//3,416 european ancestry controls EFO_0000183 N/A Associate Hodgkin's lymphoma rs501764-C of NONHSAT011305.2 is significantly associated with the hodgkin's lymphoma by using GWAS analysis in 589 european ancestry cases//5,199 european ancestry controls; 2,057 european ancestry cases//3,416 european ancestry controls(p-value = 7E-8 ;OR = 1.25). 0.4 A genome-wide association study of Hodgkin's lymphoma identifies new susceptibility loci at 2p16.1 (REL), 8q24.21 and 10p14 (GATA3). NCRV0000003906 20686565 NONHSAT207180.1 rs2814982 T N/A 100,184 european ancestry individuals EFO_0000319 N/A Associate Cholesterol//total rs2814982-T of NONHSAT207180.1 is significantly associated with the cholesterol//total by using GWAS analysis in 100,184 european ancestry individuals(p-value = 5E-11 ;OR = 1.86). 0.4 Biological, clinical and population relevance of 95 loci for blood lipids. NCRV0000000253 27863252 NONHSAT179793.1 rs7412 T N/A 171,529 european ancestry individuals EFO_0005192 N/A Associate Red cell distribution width rs7412-T of NONHSAT179793.1 is significantly associated with the red cell distribution width by using GWAS analysis in 171,529 european ancestry individuals(p-value = 2E-44 ;OR = 0.08988161). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002358 24124411 NONHSAT193984.1 rs80311637 A N/A 484 korean ancestry children EFO_0001421 N/A Associate Liver enzyme levels (alanine transaminase) rs80311637-A of NONHSAT193984.1 is significantly associated with the liver enzyme levels (alanine transaminase) by using GWAS analysis in 484 korean ancestry children(p-value = 7E-6 ;OR = 0.137). 0.4 Genome-wide association study of liver enzymes in korean children. NCRV0000000584 28334935 NONHSAT139199.2 rs1050828 C N/A 12,589 hispanic/latino individuals EFO_0006333 N/A Associate Iron status biomarkers (transferrin saturation) rs1050828-C of NONHSAT139199.2 is significantly associated with the iron status biomarkers (transferrin saturation) by using GWAS analysis in 12,589 hispanic/latino individuals(p-value = 4E-7 ;OR = 0.21441). 0.4 Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation? NCRV0000003309 28448500 NONHSAT121628.2 rs2245368 ? N/A 561 african american women//352 filipino ancestry women//725 indian ancestry women//19,366 european ancestry women//251 african american men//4,654 indian ancestry men//11,727 european ancestry men//959 european ancestry individuals; 1,437 african american women//5,184 european ancestry women//64 african american men//5,416 european ancestry men EFO_0001073 joint analysis main effects and physical activity interaction Associate Body mass index (joint analysis main effects and physical activity interaction) rs2245368-? of NONHSAT121628.2 is significantly associated with the body mass index (joint analysis main effects and physical activity interaction) by using GWAS analysis in 561 african american women//352 filipino ancestry women//725 indian ancestry women//19,366 european ancestry women//251 african american men//4,654 indian ancestry men//11,727 european ancestry men//959 european ancestry individuals; 1,437 african american women//5,184 european ancestry women//64 african american men//5,416 european ancestry men(p-value = 5E-9 ;OR = ?). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. NCRV0000002692 26853712 NONHSAT181714.1 rs17802111 C N/A 330 chinese ancestry left-side-affected cases//609 chinese ancestry right-side-affected cases//2,012 chinese ancestry controls; 151 chinese ancestry left-side-affected cases//292 chinese ancestry right-side-affected cases//1,669 chinese ancestry controls Orphanet_141136 N/A Associate Craniofacial microsomia rs17802111-C of NONHSAT181714.1 is significantly associated with the craniofacial microsomia by using GWAS analysis in 330 chinese ancestry left-side-affected cases//609 chinese ancestry right-side-affected cases//2,012 chinese ancestry controls; 151 chinese ancestry left-side-affected cases//292 chinese ancestry right-side-affected cases//1,669 chinese ancestry controls(p-value = 1E-17 ;OR = 1.48). 0.4 Genome-wide association study identifies multiple susceptibility loci for craniofacial microsomia. NCRV0000000968 23720494 NONHSAT205983.1 rs12153606 ? N/A 2,603 european ancestry individuals EFO_0005267 N/A Associate Blood trace element (cu levels) rs12153606-? of NONHSAT205983.1 is significantly associated with the blood trace element (cu levels) by using GWAS analysis in 2,603 european ancestry individuals(p-value = 2E-6 ;OR = 0.159). 0.4 Genome-wide association study identifies loci affecting blood copper, selenium and zinc. NCRV0000002593 26634245 NONHSAT120058.2 rs181328644 C N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs181328644-C of NONHSAT120058.2 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 3E-6 ;OR = 0.348). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000001801 25939597 NONHSAT053287.2 rs8064454 C N/A 4,600 european ancestry cases//2,941 european ancestry controls; 7,779 european ancestry cases//7,623 european ancestry controls EFO_0001663 N/A Associate Prostate cancer rs8064454-C of NONHSAT053287.2 is significantly associated with the prostate cancer by using GWAS analysis in 4,600 european ancestry cases//2,941 european ancestry controls; 7,779 european ancestry cases//7,623 european ancestry controls(p-value = 8E-29 ;OR = 1.24). 0.4 Two susceptibility loci identified for prostate cancer aggressiveness. NCRV0000000432 25811787 NONHSAT056298.2 rs1000791 T N/A 4,613 european ancestry male individuals//4,690 european ancestry female individuals//142 european ancestry individuals EFO_0004531 N/A Associate Urate levels in obese individuals rs1000791-T of NONHSAT056298.2 is significantly associated with the urate levels in obese individuals by using GWAS analysis in 4,613 european ancestry male individuals//4,690 european ancestry female individuals//142 european ancestry individuals(p-value = 4E-7 ;OR = 0.209). 0.4 Modulation of genetic associations with serum urate levels by body-mass-index in humans. NCRV0000001627 28991256 NONHSAT215692.1 rs5891007 ? N/A 7,699 chinese ancestry cases//35,476 european ancestry cases//18,327 chinese ancestry controls//46,839 european ancestry controls; 4,384 chinese ancestry cases//5,770 chinese ancestry controls EFO_0000692 N/A Associate Schizophrenia rs5891007-? of NONHSAT215692.1 is significantly associated with the schizophrenia by using GWAS analysis in 7,699 chinese ancestry cases//35,476 european ancestry cases//18,327 chinese ancestry controls//46,839 european ancestry controls; 4,384 chinese ancestry cases//5,770 chinese ancestry controls(p-value = 1E-7 ;OR = 1.1086475). 0.4 Genome-wide association analysis identifies 30 new susceptibility loci for schizophrenia. NCRV0000003475 26830138 NONHSAT164918.1 rs190909796 T N/A 2,478 european ancestry cases//979 ancestry controls both from the same 1,070 families EFO_0000249 N/A Associate Alzheimer disease and age of onset rs190909796-T of NONHSAT164918.1 is significantly associated with the alzheimer disease and age of onset by using GWAS analysis in 2,478 european ancestry cases//979 ancestry controls both from the same 1,070 families(p-value = 5E-7 ;OR = 5.038). 0.4 Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3. NCRV0000003095 28240269 NONHSAT161847.1 rs2255336 T N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008250 N/A Associate Blood protein levels rs2255336-T of NONHSAT161847.1 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 1E-13 ;OR = 0.3993). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. NCRV0000002648 21297633 NONHSAT191238.1 rs1297265 A N/A 6,687 european ancestry cases//19,718 european ancestry controls; 9,628 european ancestry cases//12,917 european ancestry controls EFO_0000729 N/A Associate Ulcerative colitis rs1297265-A of NONHSAT191238.1 is significantly associated with the ulcerative colitis by using GWAS analysis in 6,687 european ancestry cases//19,718 european ancestry controls; 9,628 european ancestry cases//12,917 european ancestry controls(p-value = 7E-13 ;OR = 1.11). 0.4 Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. NCRV0000001592 28928442 NONHSAT222700.1 rs3200611 ? N/A 2,442 european ancestry cases//217,137 european ancestry controls EFO_0008415 N/A Associate Hepatitis a rs3200611-? of NONHSAT222700.1 is significantly associated with the hepatitis a by using GWAS analysis in 2,442 european ancestry cases//217,137 european ancestry controls(p-value = 9E-6 ;OR = 0.2987). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. NCRV0000001596 19801982 NONHSAT195634.1 rs87938 A N/A 19,195 european ancestry individuals EFO_0007702 N/A Associate Bone mineral density (hip) rs87938-A of NONHSAT195634.1 is significantly associated with the bone mineral density (hip) by using GWAS analysis in 19,195 european ancestry individuals(p-value = 8E-10 ;OR = 0.07). 0.4 Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies. NCRV0000001645 25027320 NONHSAT179793.1 rs429358 ? N/A 363 european ancestry individuals; 515 individuals EFO_0000249 N/A Associate Cerebrospinal ab1-42 levels in alzheimer's disease dementia rs429358-? of NONHSAT179793.1 is significantly associated with the cerebrospinal ab1-42 levels in alzheimer's disease dementia by using GWAS analysis in 363 european ancestry individuals; 515 individuals(p-value = 4E-17 ;OR = 0.4). 0.4 SUCLG2 identified as both a determinator of CSF Abeta1-42 levels and an attenuator of cognitive decline in Alzheimer's disease. NCRV0000003575 28892059 NONHSAT176251.1 rs5910 C N/A 20,184 european ancestry cases//397,324 european ancestry controls; 5,851 european ancestry cases//5,866 european ancestry controls EFO_0002508 N/A Associate Parkinson's disease rs5910-C of NONHSAT176251.1 is significantly associated with the parkinson's disease by using GWAS analysis in 20,184 european ancestry cases//397,324 european ancestry controls; 5,851 european ancestry cases//5,866 european ancestry controls(p-value = 4E-6 ;OR = 1.056). 0.4 A meta-analysis of genome-wide association studies identifies 17 new Parkinson's disease risk loci. NCRV0000003577 26634245 NONHSAT047596.2 rs11639382 A N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs11639382-A of NONHSAT047596.2 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 7E-7 ;OR = 0.047). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000001571 27863252 NONHSAT198101.1 rs7617390 C N/A 172,332 european ancestry individuals EFO_0004527 N/A Associate Mean corpuscular hemoglobin rs7617390-C of NONHSAT198101.1 is significantly associated with the mean corpuscular hemoglobin by using GWAS analysis in 172,332 european ancestry individuals(p-value = 3E-40 ;OR = 0.06391008). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001698 28928442 NONHSAT027078.2 rs10492152 ? N/A 52,218 european ancestry cases//10,235 european ancestry controls EFO_0008412 N/A Associate Yeast infection rs10492152-? of NONHSAT027078.2 is significantly associated with the yeast infection by using GWAS analysis in 52,218 european ancestry cases//10,235 european ancestry controls(p-value = 8E-6 ;OR = 0.0451). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. NCRV0000001485 27989323 NONHSAT175156.1 rs143653036 G N/A 8,243 finnish ancestry individuals EFO_0005140 N/A Associate Macrophage inflammatory protein 1b levels rs143653036-G of NONHSAT175156.1 is significantly associated with the macrophage inflammatory protein 1b levels by using GWAS analysis in 8,243 finnish ancestry individuals(p-value = 1E-25 ;OR = 0.6966). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. NCRV0000002347 28448500 NONHSAT141480.2 rs2650492 A N/A 2,518 african american women//86,278 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//55,137 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men EFO_0001073 joint analysis main effects and physical activity interaction Associate Body mass index rs2650492-A of NONHSAT141480.2 is significantly associated with the body mass index by using GWAS analysis in 2,518 african american women//86,278 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//55,137 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men(p-value = 3E-8 ;OR = 0.0238). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. NCRV0000000452 26634245 NONHSAT213835.1 rs188593748 A N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs188593748-A of NONHSAT213835.1 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 8E-7 ;OR = 0.451). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000003778 24516586 NONHSAT095155.2 rs3733585 C N/A 259 asian ancestry cases and their unaffected parents// 272 european ancestry cases and their unaffected parents//19 cases and their unaffected parents HP_0000175 environmental tobacco smoke interaction Associate Cleft palate rs3733585-C of NONHSAT095155.2 is significantly associated with the cleft palate by using GWAS analysis in 259 asian ancestry cases and their unaffected parents// 272 european ancestry cases and their unaffected parents//19 cases and their unaffected parents(p-value = 2E-6 ;OR = 2.58). 0.4 Evidence of gene-environment interaction for two genes on chromosome 4 and environmental tobacco smoke in controlling the risk of nonsyndromic cleft palate. NCRV0000002578 23518928 NONHSAT024999.2 rs10501858 ? N/A 700 european ancestry cases//50 african ancestry cases//17 asian ancestry cases//5 american indian ancestry cases EFO_0004697 N/A Associate Estradiol plasma levels (breast cancer) rs10501858-? of NONHSAT024999.2 is significantly associated with the estradiol plasma levels (breast cancer) by using GWAS analysis in 700 european ancestry cases//50 african ancestry cases//17 asian ancestry cases//5 american indian ancestry cases(p-value = 1E-6 ;OR = 1.539). 0.4 TSPYL5 SNPs: association with plasma estradiol concentrations and aromatase expression. NCRV0000003863 28540026 NONHSAT210476.1 rs73416724 A N/A schizophrenia cases and controls (see ripke//2014)cases//up to 1,190 controls EFO_0000692 N/A Associate Schizophrenia rs73416724-A of NONHSAT210476.1 is significantly associated with the schizophrenia by using GWAS analysis in schizophrenia cases and controls (see ripke//2014)cases//up to 1,190 controls(p-value = 3E-8 ;OR = 1.09). 0.4 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. NCRV0000001463 26198764 NONHSAT069543.2 rs76832595 A N/A 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls EFO_0000692 N/A Associate Schizophrenia rs76832595-A of NONHSAT069543.2 is significantly associated with the schizophrenia by using GWAS analysis in 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls(p-value = 2E-6 ;OR = 1.08). 0.4 Genome-wide association study of schizophrenia in Ashkenazi Jews. NCRV0000000131 27225129 NONHSAT204426.1 rs6882046 A N/A 405,072 european ancestry individuals EFO_0004784 N/A Associate Educational attainment (years of education) rs6882046-A of NONHSAT204426.1 is significantly associated with the educational attainment (years of education) by using GWAS analysis in 405,072 european ancestry individuals(p-value = 8E-14 ;OR = 0.018889697). 0.4 Genome-wide association study identifies 74 loci associated with educational attainment. NCRV0000003261 28346442 NONHSAT031256.2 rs7953249 G N/A 14,049 european ancestry cases,?40,941 european ancestry controls EFO_1001516 N/A Associate High-grade serous ovarian cancer rs7953249-G of NONHSAT031256.2 is significantly associated with the high-grade serous ovarian cancer by using GWAS analysis in 14,049 european ancestry cases,?40,941 european ancestry controls(p-value = 8E-7 ;OR = 1.0811644). 0.4 Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer. NCRV0000002117 27126917 NONHSAT188473.1 rs62217115 G N/A 941 european ancestry individuals EFO_0008568 N/A Associate Night sleep phenotypes rs62217115-G of NONHSAT188473.1 is significantly associated with the night sleep phenotypes by using GWAS analysis in 941 european ancestry individuals(p-value = 3E-6 ;OR = 0.8833). 0.4 Genome-wide association analysis of actigraphic sleep phenotypes in the LIFE Adult Study. NCRV0000001074 21909110 NONHSAT189066.1 rs6015450 G N/A 74,064 european ancestry individuals; 48,607 european ancestry individuals EFO_0006340 N/A Associate Blood pressure rs6015450-G of NONHSAT189066.1 is significantly associated with the blood pressure by using GWAS analysis in 74,064 european ancestry individuals; 48,607 european ancestry individuals(p-value = 2E-12 ;OR = 0.521). 0.4 Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. NCRV0000000428 25188341 NONHSAT190480.1 rs6127813 T N/A up to 3,526 individuals EFO_0006792 N/A Associate Lewy body disease rs6127813-T of NONHSAT190480.1 is significantly associated with the lewy body disease by using GWAS analysis in up to 3,526 individuals(p-value = 3E-6 ;OR = 0.2697). 0.4 Genome-wide association meta-analysis of neuropathologic features of Alzheimer's disease and related dementias. NCRV0000000676 27863252 NONHSAT158820.1 rs415895 G N/A 170,763 european ancestry individuals EFO_0007986 N/A Associate High light scatter reticulocyte percentage of red cells rs415895-G of NONHSAT158820.1 is significantly associated with the high light scatter reticulocyte percentage of red cells by using GWAS analysis in 170,763 european ancestry individuals(p-value = 4E-9 ;OR = 0.02200319). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001865 23966867 NONHSAT025197.2 rs10894604 T N/A up to 19,744 african american individuals; up to 7,606 african american individuals EFO_0004343 N/A Associate Waist-hip ratio rs10894604-T of NONHSAT025197.2 is significantly associated with the waist-hip ratio by using GWAS analysis in up to 19,744 african american individuals; up to 7,606 african american individuals(p-value = 4E-7 ;OR = 0.06). 0.4 Genome-wide association of body fat distribution in African ancestry populations suggests new loci. NCRV0000000602 26634245 NONHSAT204868.1 rs115854050 A N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs115854050-A of NONHSAT204868.1 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 4E-6 ;OR = 0.119). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000001492 24292274 NONHSAT159793.1 rs735665 A N/A 1,739 european ancestry cases//5,199 european ancestry controls; 1,144 european ancestry cases//3,151 european ancestry controls EFO_0000095 N/A Associate Chronic lymphocytic leukemia rs735665-A of NONHSAT159793.1 is significantly associated with the chronic lymphocytic leukemia by using GWAS analysis in 1,739 european ancestry cases//5,199 european ancestry controls; 1,144 european ancestry cases//3,151 european ancestry controls(p-value = 4E-24 ;OR = 1.64). 0.4 A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia. NCRV0000002800 23222517 NONHSAT010798.2 rs3811444 T N/A 62,553 european ancestry individuals//9,308 south asian ancestry individuals; 63,506 european ancestry individuals EFO_0004305 N/A Associate Red blood cell traits rs3811444-T of NONHSAT010798.2 is significantly associated with the red blood cell traits by using GWAS analysis in 62,553 european ancestry individuals//9,308 south asian ancestry individuals; 63,506 european ancestry individuals(p-value = 5E-10 ;OR = 0.018). 0.4 Seventy-five genetic loci influencing the human red blood cell. NCRV0000002566 28448500 NONHSAT141526.2 rs2008514 ? N/A 2,518 african american women//86,278 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//55,137 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men EFO_0001073 joint analysis main effects and physical activity interaction Associate Body mass index (joint analysis main effects and physical activity interaction) rs2008514-? of NONHSAT141526.2 is significantly associated with the body mass index (joint analysis main effects and physical activity interaction) by using GWAS analysis in 2,518 african american women//86,278 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//55,137 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men(p-value = 8E-10 ;OR = ?). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. NCRV0000000212 23382691 NONHSAT210406.1 rs3097645 C N/A 2,247 european ancestry individuals EFO_0002690 N/A Associate Igg glycosylation rs3097645-C of NONHSAT210406.1 is significantly associated with the igg glycosylation by using GWAS analysis in 2,247 european ancestry individuals(p-value = 6E-7 ;OR = 0.2253). 0.4 Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. NCRV0000000749 21378990 NONHSAT115907.2 rs3798220 C N/A 22,233 european ancestry cases//64,762 european ancestry controls; 56,682 european ancestry cases and controls EFO_0001645 N/A Associate Coronary heart disease rs3798220-C of NONHSAT115907.2 is significantly associated with the coronary heart disease by using GWAS analysis in 22,233 european ancestry cases//64,762 european ancestry controls; 56,682 european ancestry cases and controls(p-value = 3E-11 ;OR = 1.51). 0.4 Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. NCRV0000003093 23284291 NONHSAT206941.1 rs1928168 T N/A 50,047 european ancestry individuals EFO_0003892 smoking interaction Associate Pulmonary function (smoking interaction) rs1928168-T of NONHSAT206941.1 is significantly associated with the pulmonary function (smoking interaction) by using GWAS analysis in 50,047 european ancestry individuals(p-value = 2E-7 ;OR = ?). 0.4 Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function. NCRV0000002528 28604730 NONHSAT210411.1 rs114984535 T N/A 29,266 european ancestry cases//56,450 european ancestry controls EFO_0001071 N/A Associate Lung cancer rs114984535-T of NONHSAT210411.1 is significantly associated with the lung cancer by using GWAS analysis in 29,266 european ancestry cases//56,450 european ancestry controls(p-value = 2E-6 ;OR = 1.2639532). 0.4 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. NCRV0000003283 28928442 NONHSAT106563.2 rs79224643 ? N/A 1,425 european ancestry cases//218,180 european ancestry controls EFO_0008405 N/A Associate Hepatitis b rs79224643-? of NONHSAT106563.2 is significantly associated with the hepatitis b by using GWAS analysis in 1,425 european ancestry cases//218,180 european ancestry controls(p-value = 8E-6 ;OR = 0.9663). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. NCRV0000003699 27863252 NONHSAT188791.1 rs4142441 G N/A 170,721 european ancestry individuals EFO_0005091 N/A Associate Monocyte count rs4142441-G of NONHSAT188791.1 is significantly associated with the monocyte count by using GWAS analysis in 170,721 european ancestry individuals(p-value = 4E-11 ;OR = 0.03335394). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000775 27863252 NONHSAT004977.2 rs663045 C N/A 170,384 european ancestry individuals EFO_0009390 N/A Associate Sum neutrophil eosinophil counts rs663045-C of NONHSAT004977.2 is significantly associated with the sum neutrophil eosinophil counts by using GWAS analysis in 170,384 european ancestry individuals(p-value = 4E-11 ;OR = 0.02372201). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000677 27989323 NONHSAT222179.1 rs35019477 GCA N/A 3,638 finnish ancestry individuals EFO_0005140 N/A Associate Interleukin-1-receptor antagonist levels rs35019477-GCA of NONHSAT222179.1 is significantly associated with the interleukin-1-receptor antagonist levels by using GWAS analysis in 3,638 finnish ancestry individuals(p-value = 7E-7 ;OR = 0.1328). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. NCRV0000002027 25811787 NONHSAT200026.1 rs1155866 G N/A up to 15,007 european ancestry male individuals//up to 16,943 european ancestry female individuals EFO_0004531 N/A Associate Urate levels (bmi interaction) rs1155866-G of NONHSAT200026.1 is significantly associated with the urate levels (bmi interaction) by using GWAS analysis in up to 15,007 european ancestry male individuals//up to 16,943 european ancestry female individuals(p-value = 2E-6 ;OR = 0.013509792). 0.4 Modulation of genetic associations with serum urate levels by body-mass-index in humans. NCRV0000002709 27863252 NONHSAT179731.1 rs2304176 C N/A 164,454 european ancestry individuals EFO_0004584 N/A Associate Mean platelet volume rs2304176-C of NONHSAT179731.1 is significantly associated with the mean platelet volume by using GWAS analysis in 164,454 european ancestry individuals(p-value = 9E-12 ;OR = 0.02958239). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003436 28957384 NONHSAT098927.2 rs115005126 C N/A 1,421 european ancestry cases//154 hispanic/latino cases//121 east asian ancestry cases//81,843 european ancestry controls//8,406 hispanic/latino controls//7,397 east asian ancestry controls EFO_1002021 N/A Associate Ankle injury rs115005126-C of NONHSAT098927.2 is significantly associated with the ankle injury by using GWAS analysis in 1,421 european ancestry cases//154 hispanic/latino cases//121 east asian ancestry cases//81,843 european ancestry controls//8,406 hispanic/latino controls//7,397 east asian ancestry controls(p-value = 7E-6 ;OR = 1.7271). 0.4 Two genetic loci associated with ankle injury. NCRV0000000563 27863252 NONHSAT180215.1 rs875622 G N/A 171,542 european ancestry individuals EFO_0007990 N/A Associate Neutrophil percentage of white cells rs875622-G of NONHSAT180215.1 is significantly associated with the neutrophil percentage of white cells by using GWAS analysis in 171,542 european ancestry individuals(p-value = 2E-39 ;OR = 0.056111). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001434 26926045 NONHSAT156640.1 rs17143387 ? N/A 6,357 latin american individuals EFO_0007824 N/A Associate Scalp hair shape rs17143387-? of NONHSAT156640.1 is significantly associated with the scalp hair shape by using GWAS analysis in 6,357 latin american individuals(p-value = 4E-8 ;OR = ?). 0.4 A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features. NCRV0000002041 28017375 NONHSAT207026.1 rs13219787 ? N/A up to 29,946 european ancestry individuals//up to 6150 african american individuals//15,074 east asian individuals.; 16,389 individuals of european and african american ancestry. EFO_0004526 N/A Associate Mean corpuscular volume rs13219787-? of NONHSAT207026.1 is significantly associated with the mean corpuscular volume by using GWAS analysis in up to 29,946 european ancestry individuals//up to 6150 african american individuals//15,074 east asian individuals.; 16,389 individuals of european and african american ancestry.(p-value = 1E-9 ;OR = ?). 0.4 Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis. NCRV0000001599 28017375 NONHSAT207026.1 rs13219787 ? N/A up to 21,020 european ancestry individuals//up to 3,621 african american individuals//up to 15,062 east asian individuals.; 16,389 individuals of european and african american ancestry. EFO_0004527 N/A Associate Mean corpuscular hemoglobin rs13219787-? of NONHSAT207026.1 is significantly associated with the mean corpuscular hemoglobin by using GWAS analysis in up to 21,020 european ancestry individuals//up to 3,621 african american individuals//up to 15,062 east asian individuals.; 16,389 individuals of european and african american ancestry.(p-value = 1E-8 ;OR = ?). 0.4 Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis. NCRV0000003128 27005778 NONHSAT097346.2 rs9637599 C N/A 2,118 erasmus rucphen (founder/genetic isolate)//22,807 european ancestry individuals EFO_0004725 N/A Associate Metabolite levels (small molecules and protein measures) rs9637599-C of NONHSAT097346.2 is significantly associated with the metabolite levels (small molecules and protein measures) by using GWAS analysis in 2,118 erasmus rucphen (founder/genetic isolate)//22,807 european ancestry individuals(p-value = 2E-35 ;OR = 0.11). 0.4 Genome-wide study for circulating metabolites identifies 62 loci and reveals novel systemic effects of LPA. NCRV0000002946 24816252 NONHSAT095147.2 rs938554 C N/A 7,824 european ancestry individuals EFO_0005664 N/A Associate Blood metabolite levels rs938554-C of NONHSAT095147.2 is significantly associated with the blood metabolite levels by using GWAS analysis in 7,824 european ancestry individuals(p-value = 6E-93 ;OR = 0.035). 0.4 An atlas of genetic influences on human blood metabolites. NCRV0000000037 22916037 NONHSAT198713.1 rs16850360 ? N/A 6,608 european ancestry individuals EFO_0004723 N/A Associate Metabolite levels rs16850360-? of NONHSAT198713.1 is significantly associated with the metabolite levels by using GWAS analysis in 6,608 european ancestry individuals(p-value = 3E-10 ;OR = ?). 0.4 Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis. NCRV0000001083 27863252 NONHSAT010798.2 rs3811444 T N/A 170,763 european ancestry individuals EFO_0007986 N/A Associate High light scatter reticulocyte count rs3811444-T of NONHSAT010798.2 is significantly associated with the high light scatter reticulocyte count by using GWAS analysis in 170,763 european ancestry individuals(p-value = 1E-30 ;OR = 0.04355681). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002449 29083406 NONHSAT208947.1 rs9259819 G N/A 180,129 european ancestry cases//180,709 european ancestry controls EFO_0003785 N/A Associate Allergic disease (asthma//hay fever or eczema) rs9259819-G of NONHSAT208947.1 is significantly associated with the allergic disease (asthma//hay fever or eczema) by using GWAS analysis in 180,129 european ancestry cases//180,709 european ancestry controls(p-value = 2E-9 ;OR = 1.036). 0.4 Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology. NCRV0000003215 24529757 NONHSAT015365.2 rs10458771 ? N/A 250 han chinese ancestry cases//250 han chinese ancestry controls EFO_0001357 N/A Associate Amyotrophic lateral sclerosis (sporadic) rs10458771-? of NONHSAT015365.2 is significantly associated with the amyotrophic lateral sclerosis (sporadic) by using GWAS analysis in 250 han chinese ancestry cases//250 han chinese ancestry controls(p-value = 3E-6 ;OR = ?). 0.4 Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations. NCRV0000001187 28240269 NONHSAT192274.1 rs241890 T N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008231 N/A Associate Blood protein levels rs241890-T of NONHSAT192274.1 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 3E-20 ;OR = 0.4995). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. NCRV0000002090 23251661 NONHSAT163119.1 rs10773920 C N/A 815 hispanic children from 263 families EFO_0001073 N/A Associate Obesity-related traits rs10773920-C of NONHSAT163119.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 8E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. NCRV0000000383 27694959 NONHSAT163268.1 rs9669179 G N/A 984 european ancestry individuals; 530 european ancestry individuals EFO_0007874 N/A Associate Gut microbiota (functional units) rs9669179-G of NONHSAT163268.1 is significantly associated with the gut microbiota (functional units) by using GWAS analysis in 984 european ancestry individuals; 530 european ancestry individuals(p-value = 3E-8 ;OR = 5.5538855). 0.4 The effect of host genetics on the gut microbiome. NCRV0000000660 21833088 NONHSAT217627.1 rs2019960 G N/A 9,772 european ancestry cases//16,849 european ancestry controls; 4,218 european ancestry cases//7,296 european ancestry controls EFO_0003885 N/A Associate Multiple sclerosis rs2019960-G of NONHSAT217627.1 is significantly associated with the multiple sclerosis by using GWAS analysis in 9,772 european ancestry cases//16,849 european ancestry controls; 4,218 european ancestry cases//7,296 european ancestry controls(p-value = 5E-9 ;OR = 1.12). 0.4 Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. NCRV0000000770 25881214 NONHSAT214636.1 rs10232860 G N/A 361 european ancestry cases//160 european ancestry controls EFO_0007051 N/A Associate Vein graft stenosis in coronary artery bypass grafting rs10232860-G of NONHSAT214636.1 is significantly associated with the vein graft stenosis in coronary artery bypass grafting by using GWAS analysis in 361 european ancestry cases//160 european ancestry controls(p-value = 5E-6 ;OR = ?). 0.4 Genetic variants associated with vein graft stenosis after coronary artery bypass grafting. NCRV0000002477 27863252 NONHSAT144816.2 rs8068017 C N/A 170,702 european ancestry individuals EFO_0004833 N/A Associate Neutrophil count rs8068017-C of NONHSAT144816.2 is significantly associated with the neutrophil count by using GWAS analysis in 170,702 european ancestry individuals(p-value = 2E-9 ;OR = 0.02369169). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003280 23251661 NONHSAT155419.1 rs28461806 G N/A 815 hispanic children from 263 families EFO_0004626 N/A Associate Obesity-related traits rs28461806-G of NONHSAT155419.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 2E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. NCRV0000001673 28441456 NONHSAT156517.1 rs79209987 G N/A 2,187 european ancestry individuals EFO_0007843 N/A Associate Facial morphology (factor 21//depth of nasal alae) rs79209987-G of NONHSAT156517.1 is significantly associated with the facial morphology (factor 21//depth of nasal alae) by using GWAS analysis in 2,187 european ancestry individuals(p-value = 3E-6 ;OR = 0.3078). 0.4 Genome-wide association study of facial morphology reveals novel associations with FREM1 and PARK2. NCRV0000002141 23251661 NONHSAT171056.1 rs7163013 G N/A 815 hispanic children from 263 families EFO_0005116 N/A Associate Obesity-related traits rs7163013-G of NONHSAT171056.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 9E-6 ;OR = 0.04). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. NCRV0000003290 25673413 NONHSAT049678.2 rs1439620 A N/A up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals EFO_0001073 N/A Associate Body mass index rs1439620-A of NONHSAT049678.2 is significantly associated with the body mass index by using GWAS analysis in up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals(p-value = 2E-6 ;OR = 0.016). 0.4 Genetic studies of body mass index yield new insights for obesity biology. NCRV0000003313 24159190 NONHSAT181238.1 rs55794209 A N/A 5110 european ancestry individuals EFO_0003777 N/A Associate Serum dimethylarginine levels (asymmetric/symetric ratio) rs55794209-A of NONHSAT181238.1 is significantly associated with the serum dimethylarginine levels (asymmetric/symetric ratio) by using GWAS analysis in 5110 european ancestry individuals(p-value = 3E-6 ;OR = 0.227). 0.4 Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality. NCRV0000000653 20639394 NONHSAT135167.2 rs10901296 ? N/A 8,841 korean ancestry individuals; 1,096 korean ancestry individuals EFO_0004570 N/A Associate Bilirubin levels rs10901296-? of NONHSAT135167.2 is significantly associated with the bilirubin levels by using GWAS analysis in 8,841 korean ancestry individuals; 1,096 korean ancestry individuals(p-value = 3E-7 ;OR = 0.092). 0.4 Genome-wide association of serum bilirubin levels in Korean population. NCRV0000001633 25282103 NONHSAT029960.2 rs3825199 A N/A 253,288 european ancestry individuals; 80,067 european ancestry individuals EFO_0004339 N/A Associate Height rs3825199-A of NONHSAT029960.2 is significantly associated with the height by using GWAS analysis in 253,288 european ancestry individuals; 80,067 european ancestry individuals(p-value = 4E-49 ;OR = 0.051). 0.4 Defining the role of common variation in the genomic and biological architecture of adult human height. NCRV0000000061 29221444 NONHSAT199425.1 rs17295603 ? N/A 691 african american individuals; 205 african american individuals EFO_0004723 N/A Associate Coronary artery calcified atherosclerotic plaque score in type 2 diabetes rs17295603-? of NONHSAT199425.1 is significantly associated with the coronary artery calcified atherosclerotic plaque score in type 2 diabetes by using GWAS analysis in 691 african american individuals; 205 african american individuals(p-value = 8E-6 ;OR = 1.185). 0.4 Genome-wide association study of coronary artery calcified atherosclerotic plaque in African Americans with type 2 diabetes. NCRV0000002606 19483685 NONHSAT093877.2 rs10937275 ? N/A 58 european ancestry cases//282 european ancestry controls EFO_0004228 N/A Associate Drug-induced liver injury (flucloxacillin) rs10937275-? of NONHSAT093877.2 is significantly associated with the drug-induced liver injury (flucloxacillin) by using GWAS analysis in 58 european ancestry cases//282 european ancestry controls(p-value = 1E-8 ;OR = 4.1). 0.4 HLA-B*5701 genotype is a major determinant of drug-induced liver injury due to flucloxacillin. NCRV0000001626 26634245 NONHSAT047596.2 rs11639347 T N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs11639347-T of NONHSAT047596.2 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 7E-7 ;OR = 0.047). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000000492 24951543 NONHSAT213625.1 rs1179624 T N/A 2,369 malay ancestry individuals//2,200 indian ancestry individuals//2,571 chinese ancestry individuals HP_0011142 N/A Associate Age-related nuclear cataracts rs1179624-T of NONHSAT213625.1 is significantly associated with the age-related nuclear cataracts by using GWAS analysis in 2,369 malay ancestry individuals//2,200 indian ancestry individuals//2,571 chinese ancestry individuals(p-value = 5E-6 ;OR = 0.06). 0.4 Meta-analysis of genome-wide association studies in multiethnic Asians identifies two loci for age-related nuclear cataract. NCRV0000003963 25918132 NONHSAT102373.2 rs74935252 A N/A 74 european ancestry cases//824 european ancestry controls EFO_0000270 N/A Associate Diisocyanate-induced asthma rs74935252-A of NONHSAT102373.2 is significantly associated with the diisocyanate-induced asthma by using GWAS analysis in 74 european ancestry cases//824 european ancestry controls(p-value = 1E-6 ;OR = 34.03). 0.4 Genome-Wide Association Study Identifies Novel Loci Associated With Diisocyanate-Induced Occupational Asthma. NCRV0000002562 25282103 NONHSAT207500.1 rs12209223 A N/A 253,288 european ancestry individuals; 80,067 european ancestry individuals EFO_0004339 N/A Associate Height rs12209223-A of NONHSAT207500.1 is significantly associated with the height by using GWAS analysis in 253,288 european ancestry individuals; 80,067 european ancestry individuals(p-value = 5E-25 ;OR = 0.051). 0.4 Defining the role of common variation in the genomic and biological architecture of adult human height. NCRV0000000573 25305756 NONHSAT174827.1 rs3803800 A N/A 1,194 han chinese ancestry cases//902 han chinese ancestry controls//1,553 european ancestry cases//3,050 european ancestry controls; 2,491 east asian ancestry cases//1,780 east asian ancestry controls//2,420 european ancestry cases//7,222 european ancestry controls EFO_0004194 N/A Associate Iga nephropathy rs3803800-A of NONHSAT174827.1 is significantly associated with the iga nephropathy by using GWAS analysis in 1,194 han chinese ancestry cases//902 han chinese ancestry controls//1,553 european ancestry cases//3,050 european ancestry controls; 2,491 east asian ancestry cases//1,780 east asian ancestry controls//2,420 european ancestry cases//7,222 european ancestry controls(p-value = 9E-6 ;OR = 1.12). 0.4 Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens. NCRV0000002061 28892062 NONHSAT222071.1 rs3932549 C N/A up to 72,390 japanese ancestry women//up to 85,894 japanese ancestry men; up to 10,048 japanese ancestry women//up to 5,098 japanese ancestry men//up to 181,999 european ancestry women//up to 140,155 european ancestry controls EFO_0001073 N/A Associate Body mass index rs3932549-C of NONHSAT222071.1 is significantly associated with the body mass index by using GWAS analysis in up to 72,390 japanese ancestry women//up to 85,894 japanese ancestry men; up to 10,048 japanese ancestry women//up to 5,098 japanese ancestry men//up to 181,999 european ancestry women//up to 140,155 european ancestry controls(p-value = 2E-9 ;OR = 0.025). 0.4 Genome-wide association study identifies 112 new loci for body mass index in the Japanese population. NCRV0000002830 27846195 NONHSAT165617.1 rs181534711 G N/A 1,390 european ancestry individuals EFO_0000692 paliperidone Associate Response to paliperidone in schizophrenia (panss score) rs181534711-G of NONHSAT165617.1 is significantly associated with the response to paliperidone in schizophrenia (panss score) by using GWAS analysis in 1,390 european ancestry individuals(p-value = 3E-8 ;OR = 20.6563). 0.4 Genome-wide association study of paliperidone efficacy. NCRV0000001687 22936669 NONHSAT077462.2 rs3792109 A N/A 1,277 european ancestry cases//1,488 european ancestry controls; 1,365 european ancestry cases//1,396 european ancestry controls EFO_0000384 N/A Associate Crohn's disease rs3792109-A of NONHSAT077462.2 is significantly associated with the crohn's disease by using GWAS analysis in 1,277 european ancestry cases//1,488 european ancestry controls; 1,365 european ancestry cases//1,396 european ancestry controls(p-value = 5E-9 ;OR = 1.38). 0.4 A genome-wide association study on a southern European population identifies a new Crohn's disease susceptibility locus at RBX1-EP300. NCRV0000001324 23382691 NONHSAT001678.2 rs10751776 C N/A 2,247 european ancestry individuals EFO_0002690 N/A Associate Igg glycosylation rs10751776-C of NONHSAT001678.2 is significantly associated with the igg glycosylation by using GWAS analysis in 2,247 european ancestry individuals(p-value = 7E-6 ;OR = 0.1484). 0.4 Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. NCRV0000003818 28928442 NONHSAT108603.2 rs2844790 ? N/A 4,426 european ancestry cases//84,290 european ancestry controls EFO_0008407 N/A Associate Tuberculosis rs2844790-? of NONHSAT108603.2 is significantly associated with the tuberculosis by using GWAS analysis in 4,426 european ancestry cases//84,290 european ancestry controls(p-value = 1E-8 ;OR = 0.1888). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. NCRV0000002822 19838195 NONHSAT161117.1 rs10742326 G N/A 1,310 european ancestry cases//7,859 european ancestry controls; 1,963 european ancestry cases//4,329 european ancestry controls EFO_0002690 N/A Associate Systemic lupus erythematosus rs10742326-G of NONHSAT161117.1 is significantly associated with the systemic lupus erythematosus by using GWAS analysis in 1,310 european ancestry cases//7,859 european ancestry controls; 1,963 european ancestry cases//4,329 european ancestry controls(p-value = 4E-6 ;OR = 1.14). 0.4 A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus. NCRV0000001598 26198764 NONHSAT195403.1 rs6800435 A N/A 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls EFO_0000692 N/A Associate Schizophrenia rs6800435-A of NONHSAT195403.1 is significantly associated with the schizophrenia by using GWAS analysis in 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls(p-value = 5E-7 ;OR = 1.08). 0.4 Genome-wide association study of schizophrenia in Ashkenazi Jews. NCRV0000000610 27863252 NONHSAT217648.1 rs1982094 T N/A 170,384 european ancestry individuals EFO_0009390 N/A Associate Sum neutrophil eosinophil counts rs1982094-T of NONHSAT217648.1 is significantly associated with the sum neutrophil eosinophil counts by using GWAS analysis in 170,384 european ancestry individuals(p-value = 3E-16 ;OR = 0.07404138). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000476 26502338 NONHSAT090131.2 rs9311676 C N/A 5,201 european ancestry cases//9,066 european ancestry controls; 2,018 european ancestry cases//6,925 european ancestry controls EFO_0002690 N/A Associate Systemic lupus erythematosus rs9311676-C of NONHSAT090131.2 is significantly associated with the systemic lupus erythematosus by using GWAS analysis in 5,201 european ancestry cases//9,066 european ancestry controls; 2,018 european ancestry cases//6,925 european ancestry controls(p-value = 3E-14 ;OR = 1.17). 0.4 Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus. NCRV0000002708 22412388 NONHSAT003779.2 rs11209026 G N/A 737 ashkenazi jewish cases//2,257 ashkenazi jewish controls; 971 ashkenazi jewish cases//2,124 ashkenazi jewish controls EFO_0000384 N/A Associate Crohn's disease rs11209026-G of NONHSAT003779.2 is significantly associated with the crohn's disease by using GWAS analysis in 737 ashkenazi jewish cases//2,257 ashkenazi jewish controls; 971 ashkenazi jewish cases//2,124 ashkenazi jewish controls(p-value = 1E-18 ;OR = 2.2). 0.4 A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci. NCRV0000000605 25187374 NONHSAT120359.2 rs730497 ? N/A 24,740 east asian ancestry individuals; 21,345 east asian ancestry individuals EFO_0001360 N/A Associate Fasting plasma glucose rs730497-? of NONHSAT120359.2 is significantly associated with the fasting plasma glucose by using GWAS analysis in 24,740 east asian ancestry individuals; 21,345 east asian ancestry individuals(p-value = 8E-27 ;OR = 0.121). 0.4 Genome-wide association meta-analysis identifies novel variants associated with fasting plasma glucose in East Asians. NCRV0000001773 28443625 NONHSAT141865.2 rs9925964 A N/A 98,173 european ancestry women//64,373 european ancestry men//5,829 european ancestry individuals//10,500 african american/afro-caribbean ancestry women//2,706 african american/afro-caribbean ancestry men//1,030 indian asian ancestry women//7,648 indian asian ancestry men//1,793 filipino ancestry women//2,944 hispanic/latino ancestry women//1,764 hispanic/latino ancestry men; 21,496 european ancestry women//24,385 european ancestry men//118,364 european ancestry individuals//2,326 african american/afro-caribbean ancestry women//855 african american/afro-caribbean ancestry men EFO_0001073 adjusted for smoking behaviour Associate Bmi (adjusted for smoking behaviour) rs9925964-A of NONHSAT141865.2 is significantly associated with the bmi (adjusted for smoking behaviour) by using GWAS analysis in 98,173 european ancestry women//64,373 european ancestry men//5,829 european ancestry individuals//10,500 african american/afro-caribbean ancestry women//2,706 african american/afro-caribbean ancestry men//1,030 indian asian ancestry women//7,648 indian asian ancestry men//1,793 filipino ancestry women//2,944 hispanic/latino ancestry women//1,764 hispanic/latino ancestry men; 21,496 european ancestry women//24,385 european ancestry men//118,364 european ancestry individuals//2,326 african american/afro-caribbean ancestry women//855 african american/afro-caribbean ancestry men(p-value = 5E-8 ;OR = 0.0185). 0.4 Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. NCRV0000003896 26220383 NONHSAT168560.1 rs118166657 ? N/A 34 korean ancestry cases//1,080 korean ancestry healthy controls EFO_1001253 Epilepsy and lamotrigine-induced Associate Epilepsy and lamotrigine-induced maculopapular eruptions rs118166657-? of NONHSAT168560.1 is significantly associated with the epilepsy and lamotrigine-induced maculopapular eruptions by using GWAS analysis in 34 korean ancestry cases//1,080 korean ancestry healthy controls(p-value = 1E-7 ;OR = 7.2). 0.4 GWAS identifies two susceptibility loci for lamotrigine-induced skin rash in patients with epilepsy. NCRV0000001245 27622933 NONHSAT202570.1 rs56388524 ? N/A 1,861 european ancestry non-responder cases//192,070 european ancestry healthy controls EFO_0003761 antidepressants Associate Non-response to bupropion and depression rs56388524-? of NONHSAT202570.1 is significantly associated with the non-response to bupropion and depression by using GWAS analysis in 1,861 european ancestry non-responder cases//192,070 european ancestry healthy controls(p-value = 7E-7 ;OR = 1.798). 0.4 Analysis of 23andMe antidepressant efficacy survey data: implication of circadian rhythm and neuroplasticity in bupropion response. NCRV0000000538 26394269 NONHSAT161546.1 rs6421571 C N/A 2,764 european ancestry cases//10,475 european ancestry controls; 3,716 european ancestry cases// 4,261 european ancestry controls EFO_1001486 N/A Associate Primary biliary cholangitis rs6421571-C of NONHSAT161546.1 is significantly associated with the primary biliary cholangitis by using GWAS analysis in 2,764 european ancestry cases//10,475 european ancestry controls; 3,716 european ancestry cases// 4,261 european ancestry controls(p-value = 2E-13 ;OR = 1.39). 0.4 International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways. NCRV0000000352 24925725 NONHSAT147157.2 rs2236178 ? N/A 588 european ancestry cases//1,412 european ancestry controls EFO_0005761 N/A Associate Lupus nephritis in systemic lupus erythematosus rs2236178-? of NONHSAT147157.2 is significantly associated with the lupus nephritis in systemic lupus erythematosus by using GWAS analysis in 588 european ancestry cases//1,412 european ancestry controls(p-value = 5E-6 ;OR = 1.4706). 0.4 Lupus nephritis susceptibility loci in women with systemic lupus erythematosus. NCRV0000001964 23696099 NONHSAT139199.2 rs1050828 A N/A 1904 african american individuals; 411 african american individuals EFO_0004526 N/A Associate Red blood cell traits rs1050828-A of NONHSAT139199.2 is significantly associated with the red blood cell traits by using GWAS analysis in 1904 african american individuals; 411 african american individuals(p-value = 1E-14 ;OR = 2.46). 0.4 Genetic variants that confer resistance to malaria are associated with red blood cell traits in African-Americans: an electronic medical record-based genome-wide association study. NCRV0000002064 23696099 NONHSAT139199.2 rs1050828 A N/A 1904 african american individuals; 411 african american individuals EFO_0004527 N/A Associate Red blood cell traits rs1050828-A of NONHSAT139199.2 is significantly associated with the red blood cell traits by using GWAS analysis in 1904 african american individuals; 411 african american individuals(p-value = 9E-9 ;OR = 0.72). 0.4 Genetic variants that confer resistance to malaria are associated with red blood cell traits in African-Americans: an electronic medical record-based genome-wide association study. NCRV0000000681 26634245 NONHSAT161284.1 rs118084537 T N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs118084537-T of NONHSAT161284.1 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 6E-8 ;OR = 0.124). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000003553 20171287 NONHSAT194156.1 rs10511089 ? N/A 740 european ancestry individuals EFO_0004464 N/A Associate Brain structure rs10511089-? of NONHSAT194156.1 is significantly associated with the brain structure by using GWAS analysis in 740 european ancestry individuals(p-value = 7E-7 ;OR = ?). 0.4 Voxelwise genome-wide association study (vGWAS). NCRV0000001848 27863252 NONHSAT197523.1 rs6782228 C N/A 172,435 european ancestry individuals EFO_0004308 N/A Associate White blood cell count rs6782228-C of NONHSAT197523.1 is significantly associated with the white blood cell count by using GWAS analysis in 172,435 european ancestry individuals(p-value = 1E-14 ;OR = 0.03151812). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000570 26631737 NONHSAT152363.1 rs4072037 T N/A up to 54,450 european ancestry individuals EFO_0007778 N/A Associate Urinary albumin-to-creatinine ratio rs4072037-T of NONHSAT152363.1 is significantly associated with the urinary albumin-to-creatinine ratio by using GWAS analysis in up to 54,450 european ancestry individuals(p-value = 3E-6 ;OR = 0.029). 0.4 Genome-wide Association Studies Identify Genetic Loci Associated With Albuminuria in Diabetes. NCRV0000000822 20881960 NONHSAT200487.1 rs7689420 T N/A 133,653 european ancestry individuals; 50,074 european ancestry individuals EFO_0004339 N/A Associate Height rs7689420-T of NONHSAT200487.1 is significantly associated with the height by using GWAS analysis in 133,653 european ancestry individuals; 50,074 european ancestry individuals(p-value = 6E-51 ;OR = 0.073). 0.4 Hundreds of variants clustered in genomic loci and biological pathways affect human height. NCRV0000001014 27588450 NONHSAT217977.1 rs10109414 T N/A 23,553 european ancestry individuals//23,536 japanese individuals//16,325 hispanic individuals//8,224 african american individuals EFO_0003884 N/A Associate Glomerular filtration rate rs10109414-T of NONHSAT217977.1 is significantly associated with the glomerular filtration rate by using GWAS analysis in 23,553 european ancestry individuals//23,536 japanese individuals//16,325 hispanic individuals//8,224 african american individuals(p-value = 3E-7 ;OR = 0.605). 0.4 Trans-ethnic Fine Mapping Highlights Kidney-Function Genes Linked to Salt Sensitivity. NCRV0000001751 24487271 NONHSAT097958.2 rs6828740 C N/A 103 european ancestry cases//5,653 european ancestry controls HP_0012219 N/A Associate Erythema nodosum in inflammatory bowel disease rs6828740-C of NONHSAT097958.2 is significantly associated with the erythema nodosum in inflammatory bowel disease by using GWAS analysis in 103 european ancestry cases//5,653 european ancestry controls(p-value = 5E-8 ;OR = 4.14). 0.4 Clinical, serologic, and genetic factors associated with pyoderma gangrenosum and erythema nodosum in inflammatory bowel disease patients. NCRV0000000460 25673413 NONHSAT075231.2 rs355810 A N/A up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals EFO_0001073 N/A Associate Body mass index rs355810-A of NONHSAT075231.2 is significantly associated with the body mass index by using GWAS analysis in up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals(p-value = 5E-6 ;OR = 0.014). 0.4 Genetic studies of body mass index yield new insights for obesity biology. NCRV0000000808 28346442 NONHSAT031256.2 rs7953249 G N/A 22,406 european ancestry cases//40,941 european ancestry controls EFO_0001075 N/A Associate Epithelial ovarian cancer rs7953249-G of NONHSAT031256.2 is significantly associated with the epithelial ovarian cancer by using GWAS analysis in 22,406 european ancestry cases//40,941 european ancestry controls(p-value = 5E-10 ;OR = 1.0834533). 0.4 Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer. NCRV0000000985 22990020 NONHSAT214890.1 rs6976053 ? N/A 19,599 european ancestry individuals; 10,764 european ancestry individuals EFO_0001360 N/A Associate Plasminogen activator inhibitor type 1 levels (pai-1) rs6976053-? of NONHSAT214890.1 is significantly associated with the plasminogen activator inhibitor type 1 levels (pai-1) by using GWAS analysis in 19,599 european ancestry individuals; 10,764 european ancestry individuals(p-value = 6E-13 ;OR = 0.048). 0.4 Genome-wide association study for circulating levels of PAI-1 provides novel insights into its regulation. NCRV0000001650 28017375 NONHSAT164350.1 rs10849023 ? N/A up to 29,946 european ancestry individuals//up to 6150 african american individuals//15,074 east asian individuals.; 16,389 individuals of european and african american ancestry. EFO_0004526 N/A Associate Mean corpuscular volume rs10849023-? of NONHSAT164350.1 is significantly associated with the mean corpuscular volume by using GWAS analysis in up to 29,946 european ancestry individuals//up to 6150 african american individuals//15,074 east asian individuals.; 16,389 individuals of european and african american ancestry.(p-value = 1E-8 ;OR = ?). 0.4 Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis. NCRV0000001660 28199695 NONHSAT103789.2 rs56398801 T N/A 69,057 european ancestry individuals without immune related conditions EFO_0008377 N/A Associate Itch intensity from mosquito bite adjusted by bite size rs56398801-T of NONHSAT103789.2 is significantly associated with the itch intensity from mosquito bite adjusted by bite size by using GWAS analysis in 69,057 european ancestry individuals without immune related conditions(p-value = 1E-7 ;OR = 0.0577585). 0.4 GWAS of self-reported mosquito bite size, itch intensity and attractiveness to mosquitoes implicates immune-related predisposition loci. NCRV0000001473 23648065 NONHSAT210951.1 rs9386485 T N/A 371 japanese ancestry cases//825 japanese ancestry controls DOID_615 all antimetabolite drugs Associate Adverse response to chemotherapy (neutropenia/leucopenia) rs9386485-T of NONHSAT210951.1 is significantly associated with the adverse response to chemotherapy (neutropenia/leucopenia) by using GWAS analysis in 371 japanese ancestry cases//825 japanese ancestry controls(p-value = 3E-6 ;OR = 1.524). 0.4 Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan. NCRV0000002788 28017375 NONHSAT164350.1 rs10849023 ? N/A up to 21,020 european ancestry individuals//up to 3,621 african american individuals//up to 15,062 east asian individuals.; 16,389 individuals of european and african american ancestry. EFO_0004527 N/A Associate Mean corpuscular hemoglobin rs10849023-? of NONHSAT164350.1 is significantly associated with the mean corpuscular hemoglobin by using GWAS analysis in up to 21,020 european ancestry individuals//up to 3,621 african american individuals//up to 15,062 east asian individuals.; 16,389 individuals of european and african american ancestry.(p-value = 1E-8 ;OR = ?). 0.4 Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis. NCRV0000002432 23817571 NONHSAT185350.1 rs11122895 T N/A 5,789 european ancestry cases//10,056 european ancestry controls; 6,114 european ancestry cases//9,920 european ancestry controls EFO_0005298 N/A Associate Allergic sensitization rs11122895-T of NONHSAT185350.1 is significantly associated with the allergic sensitization by using GWAS analysis in 5,789 european ancestry cases//10,056 european ancestry controls; 6,114 european ancestry cases//9,920 european ancestry controls(p-value = 2E-6 ;OR = 1.09). 0.4 Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization. NCRV0000001579 20889312 NONHSAT169903.1 rs915071 ? N/A 651 european ancestry bipolar cases//1,171 european ancestry schizophrenia cases//2,412 european ancestry controls EFO_0000677 N/A Associate Bipolar disorder and schizophrenia rs915071-? of NONHSAT169903.1 is significantly associated with the bipolar disorder and schizophrenia by using GWAS analysis in 651 european ancestry bipolar cases//1,171 european ancestry schizophrenia cases//2,412 european ancestry controls(p-value = 2E-6 ;OR = 1.2346). 0.4 A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. NCRV0000001452 28448500 NONHSAT186760.1 rs6752378 A N/A 561 african american women//352 filipino ancestry women//725 indian ancestry women//19,366 european ancestry women//251 african american men//4,654 indian ancestry men//11,727 european ancestry men//959 european ancestry individuals; 1,437 african american women//5,184 european ancestry women//64 african american men//5,416 european ancestry men EFO_0001073 joint analysis main effects and physical activity interaction Associate Body mass index rs6752378-A of NONHSAT186760.1 is significantly associated with the body mass index by using GWAS analysis in 561 african american women//352 filipino ancestry women//725 indian ancestry women//19,366 european ancestry women//251 african american men//4,654 indian ancestry men//11,727 european ancestry men//959 european ancestry individuals; 1,437 african american women//5,184 european ancestry women//64 african american men//5,416 european ancestry men(p-value = 7E-18 ;OR = 0.0331). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. NCRV0000000740 24249740 NONHSAT202867.1 rs6894139 ? N/A 5,833 european ancestry females//2,639 european ancestry males//784 han chinese ancestry females//763 han chinese ancestry males//712 african american females//409 hispanic females; 7,010 european ancestry females//3,772 european ancestry males//2,980 east asian ancestry females//2,159 east asian ancestry males EFO_0003923 N/A Associate Bone mineral density rs6894139-? of NONHSAT202867.1 is significantly associated with the bone mineral density by using GWAS analysis in 5,833 european ancestry females//2,639 european ancestry males//784 han chinese ancestry females//763 han chinese ancestry males//712 african american females//409 hispanic females; 7,010 european ancestry females//3,772 european ancestry males//2,980 east asian ancestry females//2,159 east asian ancestry males(p-value = 7E-18 ;OR = ?). 0.4 Multistage genome-wide association meta-analyses identified two new loci for bone mineral density. NCRV0000002579 21390209 NONHSAT182593.1 rs744373 ? N/A 1,831 european ancestry cases//1,764 european ancestry controls; 751 cases//751 controls EFO_0000249 N/A Associate Alzheimer's disease (late onset) rs744373-? of NONHSAT182593.1 is significantly associated with the alzheimer's disease (late onset) by using GWAS analysis in 1,831 european ancestry cases//1,764 european ancestry controls; 751 cases//751 controls(p-value = 1E-10 ;OR = 1.19). 0.4 Meta-analysis for genome-wide association study identifies multiple variants at the BIN1 locus associated with late-onset Alzheimer's disease. NCRV0000001007 21441570 NONHSAT144195.2 rs2696835 C N/A 973 european ancestry cases//1,856 european ancestry controls EFO_0003770 N/A Associate Diabetic retinopathy rs2696835-C of NONHSAT144195.2 is significantly associated with the diabetic retinopathy by using GWAS analysis in 973 european ancestry cases//1,856 european ancestry controls(p-value = 3E-6 ;OR = 2.27). 0.4 Genome-wide meta-analysis for severe diabetic retinopathy. NCRV0000000171 27863252 NONHSAT155096.1 rs1912580 C N/A 171,771 european ancestry individuals EFO_0009389 N/A Associate Sum eosinophil basophil counts rs1912580-C of NONHSAT155096.1 is significantly associated with the sum eosinophil basophil counts by using GWAS analysis in 171,771 european ancestry individuals(p-value = 3E-14 ;OR = 0.03775522). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003367 28247064 NONHSAT208618.1 rs316341 G N/A 3,146 individuals EFO_0000249 N/A Associate Cerebrospinal fluid ab1-42 levels rs316341-G of NONHSAT208618.1 is significantly associated with the cerebrospinal fluid ab1-42 levels by using GWAS analysis in 3,146 individuals(p-value = 2E-8 ;OR = 0.025). 0.4 Genome-wide association study identifies four novel loci associated with Alzheimer's endophenotypes and disease modifiers. NCRV0000000430 28199695 NONHSAT106388.2 rs9391907 C N/A 84,724 european ancestry individuals EFO_0008378 N/A Associate Mosquito bite size rs9391907-C of NONHSAT106388.2 is significantly associated with the mosquito bite size by using GWAS analysis in 84,724 european ancestry individuals(p-value = 3E-6 ;OR = 0.0292716). 0.4 GWAS of self-reported mosquito bite size, itch intensity and attractiveness to mosquitoes implicates immune-related predisposition loci. NCRV0000002220 27527254 NONHSAT069465.2 rs7255 T N/A 4,112 european ancestry cases//17,159 european ancestry controls EFO_0000478 N/A Associate Esophageal adenocarcinoma rs7255-T of NONHSAT069465.2 is significantly associated with the esophageal adenocarcinoma by using GWAS analysis in 4,112 european ancestry cases//17,159 european ancestry controls(p-value = 4E-8 ;OR = 1.1654). 0.4 Genome-wide association studies in oesophageal adenocarcinoma and Barrett's oesophagus: a large-scale meta-analysis. NCRV0000002740 27863252 NONHSAT053664.2 rs4796622 G N/A 170,763 european ancestry individuals EFO_0007986 N/A Associate High light scatter reticulocyte percentage of red cells rs4796622-G of NONHSAT053664.2 is significantly associated with the high light scatter reticulocyte percentage of red cells by using GWAS analysis in 170,763 european ancestry individuals(p-value = 1E-17 ;OR = 0.05538642). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001457 22956598 NONHSAT203866.1 rs13361160 C N/A 1,308 european ancestry female cases//5,791 european ancestry female controls; 1,480 european ancestry female cases//7,989 european ancestry female controls EFO_0003843 N/A Associate Pain rs13361160-C of NONHSAT203866.1 is significantly associated with the pain by using GWAS analysis in 1,308 european ancestry female cases//5,791 european ancestry female controls; 1,480 european ancestry female cases//7,989 european ancestry female controls(p-value = 5E-7 ;OR = 1.17). 0.4 Genome-wide association study meta-analysis of chronic widespread pain: evidence for involvement of the 5p15.2 region. NCRV0000003188 27989323 NONHSAT192463.1 rs199832865 TAGA N/A 3,685 finnish ancestry individuals EFO_0005140 N/A Associate Interferon gamma-induced protein 10 levels rs199832865-TAGA of NONHSAT192463.1 is significantly associated with the interferon gamma-induced protein 10 levels by using GWAS analysis in 3,685 finnish ancestry individuals(p-value = 2E-6 ;OR = 0.7659). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. NCRV0000003195 29221444 NONHSAT158538.1 rs192211484 ? N/A 345 african american cases//346 african american controls; 137 african american cases//68 african american controls EFO_0004723 N/A Associate Coronary artery calcified atherosclerotic plaque (90 or 130 hu threshold) in type 2 diabetes rs192211484-? of NONHSAT158538.1 is significantly associated with the coronary artery calcified atherosclerotic plaque (90 or 130 hu threshold) in type 2 diabetes by using GWAS analysis in 345 african american cases//346 african american controls; 137 african american cases//68 african american controls(p-value = 9E-6 ;OR = 0.343). 0.4 Genome-wide association study of coronary artery calcified atherosclerotic plaque in African Americans with type 2 diabetes. NCRV0000003758 27089181 NONHSAT171866.1 rs11073619 T N/A 180,281 korculan (founder/genetic isolate)//split (founder/genetic isolate)//vis (founder/genetic isolate)//erasmus rucphen (founder/genetic isolate) and other european ancestry individuals EFO_0007869 N/A Associate Positive affect rs11073619-T of NONHSAT171866.1 is significantly associated with the positive affect by using GWAS analysis in 180,281 korculan (founder/genetic isolate)//split (founder/genetic isolate)//vis (founder/genetic isolate)//erasmus rucphen (founder/genetic isolate) and other european ancestry individuals(p-value = 1E-6 ;OR = 0.0279). 0.4 Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses. NCRV0000003808 27863252 NONHSAT073752.2 rs7560180 T N/A 172,925 european ancestry individuals EFO_0004509 N/A Associate Hemoglobin concentration rs7560180-T of NONHSAT073752.2 is significantly associated with the hemoglobin concentration by using GWAS analysis in 172,925 european ancestry individuals(p-value = 1E-17 ;OR = 0.03704176). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001254 28703135 NONHSAT158562.1 rs11200638 A N/A 377 thai ancestry cases//1,074 thai ancestry controls; 222 thai ancestry cases//623 thai ancestry controls EFO_0001365 N/A Associate Neovascular age-related macular degeneration rs11200638-A of NONHSAT158562.1 is significantly associated with the neovascular age-related macular degeneration by using GWAS analysis in 377 thai ancestry cases//1,074 thai ancestry controls; 222 thai ancestry cases//623 thai ancestry controls(p-value = 5E-17 ;OR = 2.12). 0.4 Genome-wide association study of neovascular age-related macular degeneration in the Thai population. NCRV0000003271 27179730 NONHSAT179793.1 rs7412 ? N/A 883 european ancestry individuals with clinical and behavioral ideal cardiovascular health//10,825 european ancestry individuals without clinical and behavioral ideal cardiovascular health; 522 european ancestry individuals EFO_0000319 N/A Associate Ideal cardiovascular health (clinical and behavioural) rs7412-? of NONHSAT179793.1 is significantly associated with the ideal cardiovascular health (clinical and behavioural) by using GWAS analysis in 883 european ancestry individuals with clinical and behavioral ideal cardiovascular health//10,825 european ancestry individuals without clinical and behavioral ideal cardiovascular health; 522 european ancestry individuals(p-value = 9E-16 ;OR = ?). 0.4 Genetic loci associated with ideal cardiovascular health: A meta-analysis of genome-wide association studies. NCRV0000003135 21156761 NONHSAT105522.2 rs2961663 ? N/A 1,147 european ancestry acpa positive ra cases//774 european ancestry acpa negative ra cases//1,079 european ancestry controls; 887 european ancestry acpa positive ra cases//1,218 european ancestry controls EFO_0000685 N/A Associate Rheumatoid arthritis rs2961663-? of NONHSAT105522.2 is significantly associated with the rheumatoid arthritis by using GWAS analysis in 1,147 european ancestry acpa positive ra cases//774 european ancestry acpa negative ra cases//1,079 european ancestry controls; 887 european ancestry acpa positive ra cases//1,218 european ancestry controls(p-value = 4E-6 ;OR = ?). 0.4 A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis. NCRV0000000991 29059683 NONHSAT160012.1 rs217727 A N/A 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls EFO_0000305 N/A Associate Breast cancer rs217727-A of NONHSAT160012.1 is significantly associated with the breast cancer by using GWAS analysis in 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls(p-value = 4E-14 ;OR = 0.0598). 0.4 Association analysis identifies 65 new breast cancer risk loci. NCRV0000000838 26634245 NONHSAT047568.2 rs1062980 T N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs1062980-T of NONHSAT047568.2 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 1E-9 ;OR = 0.054). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000003807 27863252 NONHSAT205599.1 rs6880621 A N/A 172,952 european ancestry individuals EFO_0004305 N/A Associate Red blood cell count rs6880621-A of NONHSAT205599.1 is significantly associated with the red blood cell count by using GWAS analysis in 172,952 european ancestry individuals(p-value = 4E-9 ;OR = 0.02133613). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001411 21323541 NONHSAT108734.2 rs1265159 T N/A 556 european ancestry cases//2,338 european ancestry controls EFO_0004254 N/A Associate Idiopathic membranous nephropathy rs1265159-T of NONHSAT108734.2 is significantly associated with the idiopathic membranous nephropathy by using GWAS analysis in 556 european ancestry cases//2,338 european ancestry controls(p-value = 4E-37 ;OR = 2.42). 0.4 Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy. NCRV0000003846 27863252 NONHSAT186815.1 rs4670221 G N/A 164,454 european ancestry individuals EFO_0004584 N/A Associate Mean platelet volume rs4670221-G of NONHSAT186815.1 is significantly associated with the mean platelet volume by using GWAS analysis in 164,454 european ancestry individuals(p-value = 3E-10 ;OR = 0.02458502). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002319 22216198 NONHSAT188679.1 rs11906160 ? N/A 397 european ancestry individuals from 21 families EFO_0004633 N/A Associate Anticoagulant levels rs11906160-? of NONHSAT188679.1 is significantly associated with the anticoagulant levels by using GWAS analysis in 397 european ancestry individuals from 21 families(p-value = 1E-6 ;OR = ?). 0.4 A genome-wide association study of the Protein C anticoagulant pathway. NCRV0000001278 21886157 NONHSAT083312.2 rs2023634 G N/A 2,820 european ancestry individuals EFO_0004725 N/A Associate Metabolic traits rs2023634-G of NONHSAT083312.2 is significantly associated with the metabolic traits by using GWAS analysis in 2,820 european ancestry individuals(p-value = 2E-22 ;OR = 0.113). 0.4 Human metabolic individuality in biomedical and pharmaceutical research. NCRV0000002093 22704111 NONHSAT197024.1 rs950146 C N/A 125 european ancestry cases//403 european ancestry controls EFO_0004234 N/A Associate Erectile dysfunction in type 1 diabetes rs950146-C of NONHSAT197024.1 is significantly associated with the erectile dysfunction in type 1 diabetes by using GWAS analysis in 125 european ancestry cases//403 european ancestry controls(p-value = 4E-6 ;OR = ?). 0.4 Pilot genome-wide association search identifies potential loci for risk of erectile dysfunction in type 1 diabetes using the DCCT/EDIC study cohort. NCRV0000000507 28448500 NONHSAT113087.2 rs943005 ? N/A 2,518 african american women//86,278 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//55,137 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men EFO_0001073 joint analysis main effects and physical activity interaction Associate Body mass index (joint analysis main effects and physical activity interaction) rs943005-? of NONHSAT113087.2 is significantly associated with the body mass index (joint analysis main effects and physical activity interaction) by using GWAS analysis in 2,518 african american women//86,278 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//55,137 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men(p-value = 4E-8 ;OR = ?). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. NCRV0000001717 28470677 NONHSAT167804.1 rs17077369 G N/A 868 european ancestry cases; 820 european ancestry cases EFO_0002618 N/A Associate Survival in pancreatic cancer rs17077369-G of NONHSAT167804.1 is significantly associated with the survival in pancreatic cancer by using GWAS analysis in 868 european ancestry cases; 820 european ancestry cases(p-value = 3E-6 ;OR = 1.63). 0.4 Genetic polymorphisms associated with pancreatic cancer survival: a genome-wide association study. NCRV0000002010 27863252 NONHSAT219494.1 rs11446839 TG N/A 166,066 european ancestry individuals EFO_0004309 N/A Associate Platelet count rs11446839-TG of NONHSAT219494.1 is significantly associated with the platelet count by using GWAS analysis in 166,066 european ancestry individuals(p-value = 3E-15 ;OR = 0.0288123). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000426 27588450 NONHSAT183488.1 rs715 C N/A 23,553 european ancestry individuals//23,536 japanese individuals//16,325 hispanic individuals//8,224 african american individuals EFO_0003884 N/A Associate Glomerular filtration rate rs715-C of NONHSAT183488.1 is significantly associated with the glomerular filtration rate by using GWAS analysis in 23,553 european ancestry individuals//23,536 japanese individuals//16,325 hispanic individuals//8,224 african american individuals(p-value = 1E-11 ;OR = 0.876). 0.4 Trans-ethnic Fine Mapping Highlights Kidney-Function Genes Linked to Salt Sensitivity. NCRV0000001291 27046643 NONHSAT089767.2 rs11130222 ? N/A 111,114 european ancestry individuals EFO_0004784 N/A Associate Educational attainment rs11130222-? of NONHSAT089767.2 is significantly associated with the educational attainment by using GWAS analysis in 111,114 european ancestry individuals(p-value = 4E-14 ;OR = 0.0324711). 0.4 Genome-wide association study of cognitive functions and educational attainment in UK Biobank (N=112 151). NCRV0000000760 20834067 NONHSAT169881.1 rs7493138 ? N/A 1,173 individuals EFO_0004300 N/A Associate Longevity rs7493138-? of NONHSAT169881.1 is significantly associated with the longevity by using GWAS analysis in 1,173 individuals(p-value = 1E-6 ;OR = ?). 0.4 Joint influence of small-effect genetic variants on human longevity. NCRV0000000544 26634245 NONHSAT210149.1 rs147846168 A N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs147846168-A of NONHSAT210149.1 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 1E-8 ;OR = 3.109). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000000348 27089181 NONHSAT204426.1 rs6882046 A N/A 170,911 european ancestry individuals EFO_0007660 N/A Associate Neuroticism rs6882046-A of NONHSAT204426.1 is significantly associated with the neuroticism by using GWAS analysis in 170,911 european ancestry individuals(p-value = 2E-7 ;OR = 0.019748092). 0.4 Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses. NCRV0000002179 27863252 NONHSAT200150.1 rs13122305 A N/A 169,545 european ancestry individuals EFO_0007997 N/A Associate Granulocyte percentage of myeloid white cells rs13122305-A of NONHSAT200150.1 is significantly associated with the granulocyte percentage of myeloid white cells by using GWAS analysis in 169,545 european ancestry individuals(p-value = 2E-11 ;OR = 0.0253314). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000250 22683750 NONHSAT149602.1 rs17029069 T N/A 7,482 european ancestry individuals; 7,151 european ancestry individuals EFO_0004278 N/A Associate Cardiac repolarization rs17029069-T of NONHSAT149602.1 is significantly associated with the cardiac repolarization by using GWAS analysis in 7,482 european ancestry individuals; 7,151 european ancestry individuals(p-value = 8E-6 ;OR = 1.29). 0.4 A meta-analysis of genome-wide association studies of the electrocardiographic early repolarization pattern. NCRV0000000583 28443625 NONHSAT168811.1 rs2160077 A N/A 97,400 european ancestry women//63,892 european ancestry men//5,829 european ancestry individuals//10,500 african american/afro-caribbean ancestry women//2,706 african american/afro-caribbean ancestry men//1,030 indian asian ancestry women//7,648 indian asian ancestry men//1,793 filipino ancestry women//2,944 hispanic/latino ancestry women//1,764 hispanic/latino ancestry men; 21,496 european ancestry women//24,385 european ancestry men//118,364 european ancestry individuals//2,326 african american/afro-caribbean ancestry women//855 african american/afro-caribbean ancestry men EFO_0007789 adjusted for BMI (adjusted for smoking behaviour) Associate Waist circumference adjusted for bmi (adjusted for smoking behaviour) rs2160077-A of NONHSAT168811.1 is significantly associated with the waist circumference adjusted for bmi (adjusted for smoking behaviour) by using GWAS analysis in 97,400 european ancestry women//63,892 european ancestry men//5,829 european ancestry individuals//10,500 african american/afro-caribbean ancestry women//2,706 african american/afro-caribbean ancestry men//1,030 indian asian ancestry women//7,648 indian asian ancestry men//1,793 filipino ancestry women//2,944 hispanic/latino ancestry women//1,764 hispanic/latino ancestry men; 21,496 european ancestry women//24,385 european ancestry men//118,364 european ancestry individuals//2,326 african american/afro-caribbean ancestry women//855 african american/afro-caribbean ancestry men(p-value = 2E-8 ;OR = 0.0196). 0.4 Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. NCRV0000002784 27863252 NONHSAT207815.1 rs13204927 A N/A 172,332 european ancestry individuals EFO_0004527 N/A Associate Mean corpuscular hemoglobin rs13204927-A of NONHSAT207815.1 is significantly associated with the mean corpuscular hemoglobin by using GWAS analysis in 172,332 european ancestry individuals(p-value = 5E-30 ;OR = 0.04869638). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001759 20708005 NONHSAT032705.2 rs1305088 A N/A 236 european ancestry cases EFO_0003095 N/A Associate Non-alcoholic fatty liver disease histology (other) rs1305088-A of NONHSAT032705.2 is significantly associated with the non-alcoholic fatty liver disease histology (other) by using GWAS analysis in 236 european ancestry cases(p-value = 9E-6 ;OR = 0.58). 0.4 Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease. NCRV0000002378 28604730 NONHSAT130430.2 rs62560775 G N/A 11,273 european ancestry cases// 55,483 european ancestry controls EFO_0000571 N/A Associate Lung adenocarcinoma rs62560775-G of NONHSAT130430.2 is significantly associated with the lung adenocarcinoma by using GWAS analysis in 11,273 european ancestry cases// 55,483 european ancestry controls(p-value = 2E-9 ;OR = 1.1804289). 0.4 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. NCRV0000001843 24684796 NONHSAT170351.1 rs17244419 T N/A 423 type 2 diabetes cases and 127 unaffected siblings from 257 families EFO_0003925 N/A Associate Cognitive function rs17244419-T of NONHSAT170351.1 is significantly associated with the cognitive function by using GWAS analysis in 423 type 2 diabetes cases and 127 unaffected siblings from 257 families(p-value = 8E-6 ;OR = 8.6504). 0.4 Heritability and genetic association analysis of cognition in the Diabetes Heart Study. NCRV0000003498 28158719 NONHSAT197521.1 rs4328821 A N/A up to 11,809 hispanic/latino american individuals; up to 7,200 hispanic/latino american individuals EFO_0005090 N/A Associate White blood cell count (basophil) rs4328821-A of NONHSAT197521.1 is significantly associated with the white blood cell count (basophil) by using GWAS analysis in up to 11,809 hispanic/latino american individuals; up to 7,200 hispanic/latino american individuals(p-value = 1E-20 ;OR = 0.066). 0.4 Genome-wide association of white blood cell counts in Hispanic/Latino Americans: the Hispanic Community Health Study/Study of Latinos. NCRV0000002453 26691988 NONHSAT122368.2 rs7803454 ? N/A 16,144 european ancestry cases//17,832 european ancestry controls; 473 asian ancestry cases//1,099 asian ancestry controls//52 african ancestry cases//361 african ancestry cases//254 other non-european ancestry cases//694 other non-european ancestry controls EFO_0001365 N/A Associate Advanced age-related macular degeneration rs7803454-? of NONHSAT122368.2 is significantly associated with the advanced age-related macular degeneration by using GWAS analysis in 16,144 european ancestry cases//17,832 european ancestry controls; 473 asian ancestry cases//1,099 asian ancestry controls//52 african ancestry cases//361 african ancestry cases//254 other non-european ancestry cases//694 other non-european ancestry controls(p-value = 5E-9 ;OR = 1.13). 0.4 A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants. NCRV0000000013 27863252 NONHSAT175429.1 rs56378716 G N/A 170,702 european ancestry individuals EFO_0004833 N/A Associate Neutrophil count rs56378716-G of NONHSAT175429.1 is significantly associated with the neutrophil count by using GWAS analysis in 170,702 european ancestry individuals(p-value = 2E-18 ;OR = 0.1400379). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003925 25673412 NONHSAT168677.1 rs17109256 A N/A up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women EFO_0004343 N/A Associate Waist-hip ratio rs17109256-A of NONHSAT168677.1 is significantly associated with the waist-hip ratio by using GWAS analysis in up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women(p-value = 3E-8 ;OR = 0.0227). 0.4 New genetic loci link adipose and insulin biology to body fat distribution. NCRV0000001715 28195142 NONHSAT036425.2 rs116909374 T N/A 2,637 european ancestry cases//364 non-array typed//familial imputed icelandic ancestry cases//134,811 european ancestry controls//152,739 non-array typed//familial imputed icelandic ancestry controls. EFO_0002892 N/A Associate Thyroid cancer rs116909374-T of NONHSAT036425.2 is significantly associated with the thyroid cancer by using GWAS analysis in 2,637 european ancestry cases//364 non-array typed//familial imputed icelandic ancestry cases//134,811 european ancestry controls//152,739 non-array typed//familial imputed icelandic ancestry controls.(p-value = 1E-16 ;OR = 1.81). 0.4 A genome-wide association study yields five novel thyroid cancer risk loci. NCRV0000002666 25705162 NONHSAT030736.2 rs739496 A N/A 8,842 korean ancestry individuals; 7,861 korean ancestry individuals EFO_0004309 N/A Associate Platelet count rs739496-A of NONHSAT030736.2 is significantly associated with the platelet count by using GWAS analysis in 8,842 korean ancestry individuals; 7,861 korean ancestry individuals(p-value = 7E-12 ;OR = 8.25). 0.4 Genome-wide association study identifies candidate Loci associated with platelet count in koreans. NCRV0000002222 28199695 NONHSAT175317.1 rs111937789 G N/A 84,724 european ancestry individuals EFO_0008378 N/A Associate Mosquito bite size rs111937789-G of NONHSAT175317.1 is significantly associated with the mosquito bite size by using GWAS analysis in 84,724 european ancestry individuals(p-value = 2E-6 ;OR = 1.4852). 0.4 GWAS of self-reported mosquito bite size, itch intensity and attractiveness to mosquitoes implicates immune-related predisposition loci. NCRV0000000207 27595289 NONHSAT173314.1 rs7192392 ? N/A 291 european ancestry recipients with acute graft versus host disease//288 european ancestry recipients without acute graft versus host disease EFO_0004599 N/A Associate Acute graft versus host disease in bone marrow transplantation (recipient effect) rs7192392-? of NONHSAT173314.1 is significantly associated with the acute graft versus host disease in bone marrow transplantation (recipient effect) by using GWAS analysis in 291 european ancestry recipients with acute graft versus host disease//288 european ancestry recipients without acute graft versus host disease(p-value = 2E-7 ;OR = ?). 0.4 Novel HLA-DP region susceptibility loci associated with severe acute GvHD. NCRV0000001300 27989323 NONHSAT122589.2 rs62486616 G N/A 8,189 finnish ancestry individuals EFO_0005140 N/A Associate Interleukin-6 levels rs62486616-G of NONHSAT122589.2 is significantly associated with the interleukin-6 levels by using GWAS analysis in 8,189 finnish ancestry individuals(p-value = 9E-6 ;OR = 0.2878). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. NCRV0000001820 27611488 NONHSAT187774.1 rs6761859 ? N/A 819 african american non-allergic asthma cases//2,218 african american allergic asthma cases 4,360 african american controls//808 european american non-allergic asthma cases//1,464 european american allergic asthma cases//11,975 european american controls EFO_0000270 N/A Associate Asthma rs6761859-? of NONHSAT187774.1 is significantly associated with the asthma by using GWAS analysis in 819 african american non-allergic asthma cases//2,218 african american allergic asthma cases 4,360 african american controls//808 european american non-allergic asthma cases//1,464 european american allergic asthma cases//11,975 european american controls(p-value = 4E-6 ;OR = 0.634). 0.4 Identification of Four Novel Loci in Asthma in European American and African American Populations. NCRV0000001568 27117709 NONHSAT211293.1 rs11155804 ? N/A 4,939 european ancestry estrogen receptor-negative cases//14,352 european ancestry controls; 7,333 european ancestry estrogen receptor-negative cases//7,797 european ancestry brca1 mutation carrier cases//7,455 european ancestry brca1 mutation carrier controls//42,468 european ancestry controls EFO_0000305 N/A Associate Breast cancer rs11155804-? of NONHSAT211293.1 is significantly associated with the breast cancer by using GWAS analysis in 4,939 european ancestry estrogen receptor-negative cases//14,352 european ancestry controls; 7,333 european ancestry estrogen receptor-negative cases//7,797 european ancestry brca1 mutation carrier cases//7,455 european ancestry brca1 mutation carrier controls//42,468 european ancestry controls(p-value = 4E-28 ;OR = 1.15). 0.4 Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer. NCRV0000003232 19079260 NONHSAT018519.2 rs6265 G N/A 72,598 european ancestry individuals//1,160 african american individuals; up to 11,036 european ancestry individuals//32,615 individuals EFO_0001073 N/A Associate Body mass index rs6265-G of NONHSAT018519.2 is significantly associated with the body mass index by using GWAS analysis in 72,598 european ancestry individuals//1,160 african american individuals; up to 11,036 european ancestry individuals//32,615 individuals(p-value = 5E-10 ;OR = 4.58). 0.4 Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity. NCRV0000001606 27863252 NONHSAT192269.1 rs5994578 T N/A 171,529 european ancestry individuals EFO_0005192 N/A Associate Red cell distribution width rs5994578-T of NONHSAT192269.1 is significantly associated with the red cell distribution width by using GWAS analysis in 171,529 european ancestry individuals(p-value = 7E-21 ;OR = 0.0338412). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003669 25575512 NONHSAT115824.2 rs17830011 ? N/A 1,376 old order amish individuals EFO_0000319 N/A Associate Lipoprotein (a) - cholesterol levels rs17830011-? of NONHSAT115824.2 is significantly associated with the lipoprotein (a) - cholesterol levels by using GWAS analysis in 1,376 old order amish individuals(p-value = 5E-9 ;OR = ?). 0.4 Evidence for several independent genetic variants affecting lipoprotein (a) cholesterol levels. NCRV0000000024 22560479 NONHSAT150873.1 rs4658627 A N/A 573 european ancestry children; 107 european ancestry children//591 hispanic children//233 children EFO_0004591 N/A Associate Asthma (childhood onset) rs4658627-A of NONHSAT150873.1 is significantly associated with the asthma (childhood onset) by using GWAS analysis in 573 european ancestry children; 107 european ancestry children//591 hispanic children//233 children(p-value = 6E-6 ;OR = 0.13). 0.4 Genome-wide association study of the age of onset of childhood asthma. NCRV0000001065 21448238 NONHSAT192703.1 rs140174 G N/A 2,116 european ancestry cases//7,318 european ancestry controls//330 dutch founder cases//1,216 dutch founder controls; 2,957 european ancestry cases//5,774 european ancestry controls EFO_0003821 N/A Associate Migraine rs140174-G of NONHSAT192703.1 is significantly associated with the migraine by using GWAS analysis in 2,116 european ancestry cases//7,318 european ancestry controls//330 dutch founder cases//1,216 dutch founder controls; 2,957 european ancestry cases//5,774 european ancestry controls(p-value = 8E-6 ;OR = 1.08). 0.4 Meta-analysis of genome-wide association for migraine in six population-based European cohorts. NCRV0000002007 27863252 NONHSAT010798.2 rs3811444 T N/A 172,925 european ancestry individuals EFO_0004509 N/A Associate Hemoglobin concentration rs3811444-T of NONHSAT010798.2 is significantly associated with the hemoglobin concentration by using GWAS analysis in 172,925 european ancestry individuals(p-value = 1E-9 ;OR = 0.02286733). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003153 25961943 NONHSAT213445.1 rs10260606 C N/A up to 62,166 european ancestry individuals EFO_0000319 N/A Associate Cholesterol//total rs10260606-C of NONHSAT213445.1 is significantly associated with the cholesterol//total by using GWAS analysis in up to 62,166 european ancestry individuals(p-value = 1E-11 ;OR = 0.05). 0.4 The impact of low-frequency and rare variants on lipid levels. NCRV0000001415 27182965 NONHSAT002478.2 rs3748682 ? N/A 17,558 european ancestry cases//117,083 european ancestry controls EFO_0004705 N/A Associate Hypothyroidism rs3748682-? of NONHSAT002478.2 is significantly associated with the hypothyroidism by using GWAS analysis in 17,558 european ancestry cases//117,083 european ancestry controls(p-value = 7E-6 ;OR = ?). 0.4 Detection and interpretation of shared genetic influences on 42 human traits. NCRV0000001024 19458352 NONHSAT197739.1 rs4679904 G N/A 505 european ancestry cases//1,507 european ancestry controls; 526 european ancestry cases//1,206 european ancestry controls EFO_0004267 N/A Associate Primary biliary cholangitis rs4679904-G of NONHSAT197739.1 is significantly associated with the primary biliary cholangitis by using GWAS analysis in 505 european ancestry cases//1,507 european ancestry controls; 526 european ancestry cases//1,206 european ancestry controls(p-value = 1E-6 ;OR = 1.38). 0.4 Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants. NCRV0000000112 27702941 NONHSAT213219.1 rs11400459 A N/A 9,054 european ancestry individuals; 822 european ancestry individuals EFO_0007872 N/A Associate Caffeine metabolism (plasma 1,3,7-trimethylxanthine (caffeine) level) rs11400459-A of NONHSAT213219.1 is significantly associated with the caffeine metabolism (plasma 1,3,7-trimethylxanthine (caffeine) level) by using GWAS analysis in 9,054 european ancestry individuals; 822 european ancestry individuals(p-value = 6E-6 ;OR = 4.52). 0.4 Genome-wide association study of caffeine metabolites provides new insights to caffeine metabolism and dietary caffeine-consumption behavior. NCRV0000001153 28928442 NONHSAT172173.1 rs140427966 ? N/A 35,000 european ancestry cases//33,478 european ancestry controls EFO_0008413 N/A Associate Urinary tract infection frequency rs140427966-? of NONHSAT172173.1 is significantly associated with the urinary tract infection frequency by using GWAS analysis in 35,000 european ancestry cases//33,478 european ancestry controls(p-value = 1E-7 ;OR = 0.3806). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. NCRV0000003004 27863252 NONHSAT155755.1 rs7332 A N/A 170,761 european ancestry individuals EFO_0007986 N/A Associate High light scatter reticulocyte count rs7332-A of NONHSAT155755.1 is significantly associated with the high light scatter reticulocyte count by using GWAS analysis in 170,761 european ancestry individuals(p-value = 4E-11 ;OR = 0.0237027). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000397 22286173 NONHSAT017198.2 rs2280543 T N/A 1,383 japanese ancestry cases//5,484 japanese ancestry controls; 1,048 japanese ancestry cases//7,212 japanese ancestry controls EFO_0003870 N/A Associate Intracranial aneurysm rs2280543-T of NONHSAT017198.2 is significantly associated with the intracranial aneurysm by using GWAS analysis in 1,383 japanese ancestry cases//5,484 japanese ancestry controls; 1,048 japanese ancestry cases//7,212 japanese ancestry controls(p-value = 3E-6 ;OR = 1.251). 0.4 Genome-wide association study for intracranial aneurysm in the Japanese population identifies three candidate susceptible loci and a functional genetic variant at EDNRA. NCRV0000000759 28928442 NONHSAT067101.2 rs516316 C N/A 31,227 european ancestry cases//54,153 european ancestry controls EFO_0008404 N/A Associate Mumps rs516316-C of NONHSAT067101.2 is significantly associated with the mumps by using GWAS analysis in 31,227 european ancestry cases//54,153 european ancestry controls(p-value = 1E-71 ;OR = 1.25). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. NCRV0000001180 27863252 NONHSAT221416.1 rs149037075 T N/A 172,433 european ancestry individuals EFO_0004526 N/A Associate Mean corpuscular volume rs149037075-T of NONHSAT221416.1 is significantly associated with the mean corpuscular volume by using GWAS analysis in 172,433 european ancestry individuals(p-value = 3E-51 ;OR = 0.1105021). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002302 27863252 NONHSAT221416.1 rs149037075 T N/A 172,332 european ancestry individuals EFO_0004527 N/A Associate Mean corpuscular hemoglobin rs149037075-T of NONHSAT221416.1 is significantly associated with the mean corpuscular hemoglobin by using GWAS analysis in 172,332 european ancestry individuals(p-value = 3E-20 ;OR = 0.06772414). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002000 28452372 NONHSAT153828.1 rs10874312 A N/A 110,517 european ancestry individuals; EFO_0003884 creatinine Associate Glomerular filtration rate (creatinine) rs10874312-A of NONHSAT153828.1 is significantly associated with the glomerular filtration rate (creatinine) by using GWAS analysis in 110,517 european ancestry individuals; (p-value = 2E-8 ;OR = 0.0057). 0.4 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function. NCRV0000000390 27863252 NONHSAT162404.1 rs1800973 A N/A 170,721 european ancestry individuals EFO_0005091 N/A Associate Monocyte count rs1800973-A of NONHSAT162404.1 is significantly associated with the monocyte count by using GWAS analysis in 170,721 european ancestry individuals(p-value = 1E-53 ;OR = 0.1145819). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003108 24039173 NONHSAT149960.1 rs7535475 ? N/A 2,246 european ancestry individuals EFO_0003761 N/A Associate Functional impairment in major depressive disorder//bipolar disorder and schizophrenia rs7535475-? of NONHSAT149960.1 is significantly associated with the functional impairment in major depressive disorder//bipolar disorder and schizophrenia by using GWAS analysis in 2,246 european ancestry individuals(p-value = 3E-6 ;OR = ?). 0.4 Genetic predictors of risk and resilience in psychiatric disorders: a cross-disorder genome-wide association study of functional impairment in major depressive disorder, bipolar disorder, and schizophrenia. NCRV0000003316 28540026 NONHSAT210476.1 rs73416724 A N/A up to 6,197 european ancestry asd cases//up to 7,377 european ancestry controls//up to 1,190 asd cases//up to 1,190 controls EFO_0003756 N/A Associate Autism spectrum disorder rs73416724-A of NONHSAT210476.1 is significantly associated with the autism spectrum disorder by using GWAS analysis in up to 6,197 european ancestry asd cases//up to 7,377 european ancestry controls//up to 1,190 asd cases//up to 1,190 controls(p-value = 3E-8 ;OR = 1.09). 0.4 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. NCRV0000003952 28762467 NONHSAT174755.1 rs9675270 ? N/A 36 european ancestry cases//5,170 european ancestry untreated controls HP_0012235 Sulfasalazine-induced Associate Sulfasalazine-induced agranulocytosis rs9675270-? of NONHSAT174755.1 is significantly associated with the sulfasalazine-induced agranulocytosis by using GWAS analysis in 36 european ancestry cases//5,170 european ancestry untreated controls(p-value = 1E-7 ;OR = 4.64). 0.4 Sulfasalazine-Induced Agranulocytosis Is Associated With the Human Leukocyte Antigen Locus. NCRV0000002837 26198764 NONHSAT095883.2 rs6825268 G N/A 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls EFO_0000692 N/A Associate Schizophrenia rs6825268-G of NONHSAT095883.2 is significantly associated with the schizophrenia by using GWAS analysis in 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls(p-value = 4E-7 ;OR = 1.0526316). 0.4 Genome-wide association study of schizophrenia in Ashkenazi Jews. NCRV0000002614 21909115 NONHSAT108210.2 rs1799945 G N/A 69,395 european ancestry individuals; up to 133,361 european ancestry individuals EFO_0000319 N/A Associate Systolic blood pressure rs1799945-G of NONHSAT108210.2 is significantly associated with the systolic blood pressure by using GWAS analysis in 69,395 european ancestry individuals; up to 133,361 european ancestry individuals(p-value = 8E-12 ;OR = 0.627). 0.4 Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. NCRV0000002662 21408207 NONHSAT194927.1 rs12629106 ? N/A 811 anti-dsdna positive european ancestry cases//906 anti-dsdna negative european ancestry cases//4,813 european ancestry controls EFO_0002690 N/A Associate Systemic lupus erythematosus rs12629106-? of NONHSAT194927.1 is significantly associated with the systemic lupus erythematosus by using GWAS analysis in 811 anti-dsdna positive european ancestry cases//906 anti-dsdna negative european ancestry cases//4,813 european ancestry controls(p-value = 4E-6 ;OR = 1.56). 0.4 Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production. NCRV0000000120 22331829 NONHSAT107892.2 rs6924995 ? N/A 6,989 european ancestry individuals EFO_0007804 N/A Associate Response to statins (ldl cholesterol change) rs6924995-? of NONHSAT107892.2 is significantly associated with the response to statins (ldl cholesterol change) by using GWAS analysis in 6,989 european ancestry individuals(p-value = 5E-7 ;OR = 4.1). 0.4 Genetic determinants of statin-induced low-density lipoprotein cholesterol reduction: the Justification for the Use of Statins in Prevention: an Intervention Trial Evaluating Rosuvastatin (JUPITER) trial. NCRV0000002326 25673413 NONHSAT028070.2 rs11168854 G N/A up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals EFO_0001073 N/A Associate Body mass index rs11168854-G of NONHSAT028070.2 is significantly associated with the body mass index by using GWAS analysis in up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals(p-value = 1E-6 ;OR = 0.016). 0.4 Genetic studies of body mass index yield new insights for obesity biology. NCRV0000003684 27455348 NONHSAT191051.1 rs75087725 ? N/A 12,577 european ancestry cases//23,475 european ancestry controls; 2,579 european ancestry cases//2,767 european ancestry controls EFO_0000253 N/A Associate Amyotrophic lateral sclerosis rs75087725-? of NONHSAT191051.1 is significantly associated with the amyotrophic lateral sclerosis by using GWAS analysis in 12,577 european ancestry cases//23,475 european ancestry controls; 2,579 european ancestry cases//2,767 european ancestry controls(p-value = 3E-10 ;OR = 1.47). 0.4 Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis. NCRV0000000427 27863252 NONHSAT207279.1 rs16895831 T N/A 170,702 european ancestry individuals EFO_0004833 N/A Associate Neutrophil count rs16895831-T of NONHSAT207279.1 is significantly associated with the neutrophil count by using GWAS analysis in 170,702 european ancestry individuals(p-value = 1E-10 ;OR = 0.02879943). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002466 20581827 NONHSAT224320.1 rs5945326 A N/A 8,130 european ancestry cases//38,987 european ancestry controls; up to 34,412 european ancestry cases//59,925 european ancestry controls EFO_0001360 N/A Associate Type 2 diabetes rs5945326-A of NONHSAT224320.1 is significantly associated with the type 2 diabetes by using GWAS analysis in 8,130 european ancestry cases//38,987 european ancestry controls; up to 34,412 european ancestry cases//59,925 european ancestry controls(p-value = 3E-10 ;OR = 1.27). 0.4 Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. NCRV0000000364 26634245 NONHSAT075862.2 rs113142635 C N/A 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio in copd rs113142635-C of NONHSAT075862.2 is significantly associated with the post bronchodilator fev1/fvc ratio in copd by using GWAS analysis in 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases(p-value = 5E-6 ;OR = 0.165). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000001988 28754779 NONHSAT224109.1 rs2179628 ? N/A 1,959 european ancestry cases//1,488 european ancestry alcohol abuse controls//4,552 european ancestry controls EFO_1002013 N/A Associate Alcoholic chronic pancreatitis rs2179628-? of NONHSAT224109.1 is significantly associated with the alcoholic chronic pancreatitis by using GWAS analysis in 1,959 european ancestry cases//1,488 european ancestry alcohol abuse controls//4,552 european ancestry controls(p-value = 1E-7 ;OR = 2.4949129). 0.4 Genome-wide association study identifies inversion in the CTRB1-CTRB2 locus to modify risk for alcoholic and non-alcoholic chronic pancreatitis. NCRV0000000892 27723758 NONHSAT217625.1 rs11299600 ? N/A 1,635 european ancestry cases//4,852 european ancestry controls EFO_1001929 N/A Associate Selective iga deficiency rs11299600-? of NONHSAT217625.1 is significantly associated with the selective iga deficiency by using GWAS analysis in 1,635 european ancestry cases//4,852 european ancestry controls(p-value = 4E-11 ;OR = 1.369863). 0.4 Common variants at PVT1, ATG13-AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency. NCRV0000003304 27015805 NONHSAT150790.1 rs553626126 ? N/A 45,627 middle-aged british individuals EFO_0007796 N/A Associate Parental longevity (combined parental age at death) rs553626126-? of NONHSAT150790.1 is significantly associated with the parental longevity (combined parental age at death) by using GWAS analysis in 45,627 middle-aged british individuals(p-value = 9E-6 ;OR = 0.176503). 0.4 Human longevity is influenced by many genetic variants: evidence from 75,000 UK Biobank participants. NCRV0000002211 23251661 NONHSAT159135.1 rs28362944 G N/A 815 hispanic children from 263 families EFO_0004466 N/A Associate Obesity-related traits rs28362944-G of NONHSAT159135.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 9E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. NCRV0000002168 23969696 NONHSAT191834.1 rs4817986 T N/A 91,323 european ancestry individuals; 8,423 african american individuals//1,447 hispanic individuals EFO_0004623 N/A Associate Fibrinogen rs4817986-T of NONHSAT191834.1 is significantly associated with the fibrinogen by using GWAS analysis in 91,323 european ancestry individuals; 8,423 african american individuals//1,447 hispanic individuals(p-value = 2E-11 ;OR = 0.008). 0.4 Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease. NCRV0000001281 20932310 NONHSAT189111.1 rs4925189 G N/A 172 european ancestry alzheimer's disease cases//109 european ancestry mild cognitive impairment cases//109 european ancestry controls EFO_0000249 N/A Associate Cerebrospinal t-tau levels rs4925189-G of NONHSAT189111.1 is significantly associated with the cerebrospinal t-tau levels by using GWAS analysis in 172 european ancestry alzheimer's disease cases//109 european ancestry mild cognitive impairment cases//109 european ancestry controls(p-value = 6E-7 ;OR = ?). 0.4 Genome-wide association reveals genetic effects on human Abeta42 and tau protein levels in cerebrospinal fluids: a case control study. NCRV0000000503 20041166 NONHSAT023594.2 rs12274302 ? N/A 2,362 european ancestry cases EFO_0000180 N/A Associate Hiv-1 control rs12274302-? of NONHSAT023594.2 is significantly associated with the hiv-1 control by using GWAS analysis in 2,362 european ancestry cases(p-value = 4E-7 ;OR = ?). 0.4 Common genetic variation and the control of HIV-1 in humans. NCRV0000002749 19207018 NONHSAT179559.1 rs2562456 ? N/A 112 european ancestry individuals EFO_0003843 N/A Associate Pain rs2562456-? of NONHSAT179559.1 is significantly associated with the pain by using GWAS analysis in 112 european ancestry individuals(p-value = 2E-10 ;OR = ?). 0.4 Genome-wide association study of acute post-surgical pain in humans. NCRV0000002608 22832961 NONHSAT215384.1 rs3748140 ? N/A 1,291 european ancestry cases//938 european ancestry controls; 509 european ancestry cases//753 european ancestry controls//2,218 cases//2,583 controls EFO_0000249 N/A Associate Alzheimer's disease rs3748140-? of NONHSAT215384.1 is significantly associated with the alzheimer's disease by using GWAS analysis in 1,291 european ancestry cases//938 european ancestry controls; 509 european ancestry cases//753 european ancestry controls//2,218 cases//2,583 controls(p-value = 3E-7 ;OR = 2.43). 0.4 Genome-wide association study of Alzheimer's disease. NCRV0000003620 27702941 NONHSAT047252.2 rs62005807 C N/A 9,054 european ancestry individuals; 822 european ancestry individuals EFO_0007872 N/A Associate Caffeine metabolism (plasma 1,3,7-trimethylxanthine (caffeine) level) rs62005807-C of NONHSAT047252.2 is significantly associated with the caffeine metabolism (plasma 1,3,7-trimethylxanthine (caffeine) level) by using GWAS analysis in 9,054 european ancestry individuals; 822 european ancestry individuals(p-value = 3E-9 ;OR = 5.92). 0.4 Genome-wide association study of caffeine metabolites provides new insights to caffeine metabolism and dietary caffeine-consumption behavior. NCRV0000003618 20383145 NONHSAT176422.1 rs8068318 G N/A 23,812 european ancestry individuals; 16,626 european ancestry individuals EFO_0003884 N/A Associate Creatinine levels rs8068318-G of NONHSAT176422.1 is significantly associated with the creatinine levels by using GWAS analysis in 23,812 european ancestry individuals; 16,626 european ancestry individuals(p-value = 3E-10 ;OR = 0.8). 0.4 Genetic loci influencing kidney function and chronic kidney disease. NCRV0000001802 27918534 NONHSAT006322.2 rs6587515 A N/A 3,684 european ancestry women//3,640 european ancestry men//1,284 african american women//877 african american men//746 hispanic ancestry women//699 hispanic ancestry men//390 asian ancestry women//378 asian ancestry men// 294 old order amish (founder/genetic isolate) women//248 old order amish (founder/genetic isolate) men. EFO_0000589 N/A Associate Pericardial adipose tissue adjusted for height and weight rs6587515-A of NONHSAT006322.2 is significantly associated with the pericardial adipose tissue adjusted for height and weight by using GWAS analysis in 3,684 european ancestry women//3,640 european ancestry men//1,284 african american women//877 african american men//746 hispanic ancestry women//699 hispanic ancestry men//390 asian ancestry women//378 asian ancestry men// 294 old order amish (founder/genetic isolate) women//248 old order amish (founder/genetic isolate) men.(p-value = 3E-9 ;OR = 5.94). 0.4 Multiethnic genome-wide meta-analysis of ectopic fat depots identifies loci associated with adipocyte development and differentiation. NCRV0000002595 29059430 NONHSAT024388.2 rs74949440 T N/A 131 european ancestry cases//493 european ancestry controls EFO_0000305 treated with more than 10 gray radiotherapy Associate Breast cancer in childhood cancer survivors treated with more than 10 gray radiotherapy rs74949440-T of NONHSAT024388.2 is significantly associated with the breast cancer in childhood cancer survivors treated with more than 10 gray radiotherapy by using GWAS analysis in 131 european ancestry cases//493 european ancestry controls(p-value = 6E-8 ;OR = 2.59). 0.4 Genome-Wide Association Study to Identify Susceptibility Loci That Modify Radiation-Related Risk for Breast Cancer After Childhood Cancer.LID - 10.1093/jnci/djx058 [doi]AB - Background: Childhood cancer survivors treated with chest-directed rad NCRV0000003181 28892062 NONHSAT127778.2 rs12680842 G N/A up to 72,390 japanese ancestry women//up to 85,894 japanese ancestry men; up to 10,048 japanese ancestry women//up to 5,098 japanese ancestry men//up to 181,999 european ancestry women//up to 140,155 european ancestry controls EFO_0001073 N/A Associate Body mass index rs12680842-G of NONHSAT127778.2 is significantly associated with the body mass index by using GWAS analysis in up to 72,390 japanese ancestry women//up to 85,894 japanese ancestry men; up to 10,048 japanese ancestry women//up to 5,098 japanese ancestry men//up to 181,999 european ancestry women//up to 140,155 european ancestry controls(p-value = 2E-11 ;OR = 0.016). 0.4 Genome-wide association study identifies 112 new loci for body mass index in the Japanese population. NCRV0000001467 23251661 NONHSAT215466.1 rs13271465 A N/A 815 hispanic children from 263 families EFO_0005119 N/A Associate Obesity-related traits rs13271465-A of NONHSAT215466.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 8E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. NCRV0000003812 27135401 NONHSAT053287.2 rs11263763 A N/A 2,082 european ancestry endometrioid cases//130 european ancestry cases// 9,544 european ancestry controls; 4,553 european ancestry endometrioid cases//972 european ancestry cases//27,600 european ancestry controls EFO_1001512 N/A Associate Endometrial cancer rs11263763-A of NONHSAT053287.2 is significantly associated with the endometrial cancer by using GWAS analysis in 2,082 european ancestry endometrioid cases//130 european ancestry cases// 9,544 european ancestry controls; 4,553 european ancestry endometrioid cases//972 european ancestry cases//27,600 european ancestry controls(p-value = 3E-19 ;OR = 1.2). 0.4 Five endometrial cancer risk loci identified through genome-wide association analysis. NCRV0000003114 27135401 NONHSAT053287.2 rs11263763 A N/A 2,082 european ancestry cases//9,544 european ancestry controls; 4,553 european ancestry cases//27,600 european ancestry controls EFO_1001514 N/A Associate Endometrial endometrioid carcinoma rs11263763-A of NONHSAT053287.2 is significantly associated with the endometrial endometrioid carcinoma by using GWAS analysis in 2,082 european ancestry cases//9,544 european ancestry controls; 4,553 european ancestry cases//27,600 european ancestry controls(p-value = 7E-17 ;OR = 1.2). 0.4 Five endometrial cancer risk loci identified through genome-wide association analysis. NCRV0000003022 28112199 NONHSAT185338.1 rs12711846 G N/A 1,842 european ancestry chronic lymphocytic leukemia cases//1,465 european ancestry hodgkin lymphoma cases//3,790 european ancestry multiple myeloma cases//7,324 european ancestry controls EFO_0001378 N/A Associate B-cell malignancies (chronic lymphocytic leukemia//hodgkin lymphoma or multiple myeloma) (pleiotropy) rs12711846-G of NONHSAT185338.1 is significantly associated with the b-cell malignancies (chronic lymphocytic leukemia//hodgkin lymphoma or multiple myeloma) (pleiotropy) by using GWAS analysis in 1,842 european ancestry chronic lymphocytic leukemia cases//1,465 european ancestry hodgkin lymphoma cases//3,790 european ancestry multiple myeloma cases//7,324 european ancestry controls(p-value = 3E-14 ;OR = ?). 0.4 Genome-wide association analysis of chronic lymphocytic leukaemia, Hodgkin lymphoma and multiple myeloma identifies pleiotropic risk loci. NCRV0000003118 28928442 NONHSAT208940.1 rs111469561 ? N/A 24,994 european ancestry cases//37,451 european ancestry controls EFO_0008406 N/A Associate Plantar warts rs111469561-? of NONHSAT208940.1 is significantly associated with the plantar warts by using GWAS analysis in 24,994 european ancestry cases//37,451 european ancestry controls(p-value = 1E-6 ;OR = 0.29). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. NCRV0000001431 27989323 NONHSAT036223.2 rs10131977 C N/A 3,475 finnish ancestry individuals EFO_0005140 N/A Associate Interleukin-2 levels rs10131977-C of NONHSAT036223.2 is significantly associated with the interleukin-2 levels by using GWAS analysis in 3,475 finnish ancestry individuals(p-value = 9E-6 ;OR = 0.1208). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. NCRV0000002355 27325353 NONHSAT172059.1 rs1689953 T N/A 9,822 european ancestry individuals EFO_0007999 N/A Associate Lower body strength rs1689953-T of NONHSAT172059.1 is significantly associated with the lower body strength by using GWAS analysis in 9,822 european ancestry individuals(p-value = 2E-6 ;OR = 4.76). 0.4 GWAS analysis of handgrip and lower body strength in older adults in the CHARGE consortium. NCRV0000002426 26053186 NONHSAT155311.1 rs12220014 ? N/A 362 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//438 european ancestry current smoker individuals//449 latino current smoker individuals//704 japanese ancestry current smoker individuals EFO_0001071 in smokers Associate 3-hydroxypropylmercapturic acid levels in smokers rs12220014-? of NONHSAT155311.1 is significantly associated with the 3-hydroxypropylmercapturic acid levels in smokers by using GWAS analysis in 362 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//438 european ancestry current smoker individuals//449 latino current smoker individuals//704 japanese ancestry current smoker individuals(p-value = 4E-6 ;OR = 0.6201). 0.4 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. NCRV0000000556 21926972 NONHSAT187939.1 rs2176528 C N/A 7,481 european ancestry cases//9,250 european ancestry controls; 4,496 european ancestry cases//42,422 european ancestry controls EFO_0000289 N/A Associate Bipolar disorder rs2176528-C of NONHSAT187939.1 is significantly associated with the bipolar disorder by using GWAS analysis in 7,481 european ancestry cases//9,250 european ancestry controls; 4,496 european ancestry cases//42,422 european ancestry controls(p-value = 4E-6 ;OR = 1.12). 0.4 Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. NCRV0000002122 25673413 NONHSAT168677.1 rs7141420 T N/A up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals EFO_0001073 N/A Associate Body mass index rs7141420-T of NONHSAT168677.1 is significantly associated with the body mass index by using GWAS analysis in up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals(p-value = 1E-11 ;OR = 0.026). 0.4 Genetic studies of body mass index yield new insights for obesity biology. NCRV0000000278 27927641 NONHSAT178893.1 rs8097070 ? N/A 178 european ancestry cases//434 european ancestry controls//81 hispanic/latin american cases//177 hispanic/latin american controls//511 cases//6,336 controls EFO_1001999 N/A Associate Systemic juvenile idiopathic arthritis rs8097070-? of NONHSAT178893.1 is significantly associated with the systemic juvenile idiopathic arthritis by using GWAS analysis in 178 european ancestry cases//434 european ancestry controls//81 hispanic/latin american cases//177 hispanic/latin american controls//511 cases//6,336 controls(p-value = 2E-6 ;OR = 3.333333). 0.4 Genetic architecture distinguishes systemic juvenile idiopathic arthritis from other forms of juvenile idiopathic arthritis: clinical and therapeutic implications. NCRV0000002636 28240269 NONHSAT198706.1 rs16850073 T N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008059 N/A Associate Blood protein levels rs16850073-T of NONHSAT198706.1 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 1E-97 ;OR = 0.8877). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. NCRV0000000302 22923026 NONHSAT194170.1 rs17023900 G N/A 1,033 japanese ancestry cases//1,042 japanese ancestry controls//1,043 latino cases//1,057 latino controls; 1,583 japanese ancestry cases//3,386 japanese ancestry controls//1,854 european ancestry cases//3,748 european ancestry controls EFO_0001663 N/A Associate Prostate cancer rs17023900-G of NONHSAT194170.1 is significantly associated with the prostate cancer by using GWAS analysis in 1,033 japanese ancestry cases//1,042 japanese ancestry controls//1,043 latino cases//1,057 latino controls; 1,583 japanese ancestry cases//3,386 japanese ancestry controls//1,854 european ancestry cases//3,748 european ancestry controls(p-value = 6E-8 ;OR = 1.41). 0.4 Evaluating genetic risk for prostate cancer among Japanese and Latinos. NCRV0000000064 26634245 NONHSAT093003.2 rs146844429 G N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs146844429-G of NONHSAT093003.2 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 3E-7 ;OR = 2.36). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000003643 17554300 NONHSAT207283.1 rs6458307 ? N/A 1,868 european ancestry cases//2,938 european ancestry controls EFO_0000289 N/A Associate Bipolar disorder rs6458307-? of NONHSAT207283.1 is significantly associated with the bipolar disorder by using GWAS analysis in 1,868 european ancestry cases//2,938 european ancestry controls(p-value = 4E-6 ;OR = 1.19). 0.4 Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. NCRV0000003116 24836286 NONHSAT157209.1 rs704017 G N/A 2,098 east asian ancestry cases//6,172 east asian ancestry controls; 12,865 east asian ancestry cases//25,773 east asian ancestry controls//up to 16,984 european ancestry cases//up to 18,262 european ancestry controls EFO_0005842 N/A Associate Colorectal cancer rs704017-G of NONHSAT157209.1 is significantly associated with the colorectal cancer by using GWAS analysis in 2,098 east asian ancestry cases//6,172 east asian ancestry controls; 12,865 east asian ancestry cases//25,773 east asian ancestry controls//up to 16,984 european ancestry cases//up to 18,262 european ancestry controls(p-value = 2E-8 ;OR = 1.1). 0.4 Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk. NCRV0000002708 17447842 NONHSAT003779.2 rs11209026 ? N/A 547 european ancestry cases//928 european ancestry controls; 1,266 european ancestry cases//559 european ancestry controls//up to 428 european ancestry trios EFO_0000384 N/A Associate Crohn's disease rs11209026-? of NONHSAT003779.2 is significantly associated with the crohn's disease by using GWAS analysis in 547 european ancestry cases//928 european ancestry controls; 1,266 european ancestry cases//559 european ancestry controls//up to 428 european ancestry trios(p-value = 2E-18 ;OR = 2.92). 0.4 Novel Crohn disease locus identified by genome-wide association maps to a gene desert on 5p13.1 and modulates expression of PTGER4. NCRV0000003901 22658654 NONHSAT206313.1 rs959573 ? N/A 443 european ancestry cases EFO_0002508 N/A Associate Parkinson's disease (motor and cognition) rs959573-? of NONHSAT206313.1 is significantly associated with the parkinson's disease (motor and cognition) by using GWAS analysis in 443 european ancestry cases(p-value = 5E-6 ;OR = 1.92). 0.4 Genomic determinants of motor and cognitive outcomes in Parkinson's disease. NCRV0000003133 19219042 NONHSAT211293.1 rs2046210 A N/A 1,505 chinese ancestry cases//1,522 chinese ancestry controls; 5,026 chinese ancestry cases//2,476 chinese ancestry controls//1,591 european ancestry cases//1,466 european ancestry controls EFO_0000305 N/A Associate Breast cancer rs2046210-A of NONHSAT211293.1 is significantly associated with the breast cancer by using GWAS analysis in 1,505 chinese ancestry cases//1,522 chinese ancestry controls; 5,026 chinese ancestry cases//2,476 chinese ancestry controls//1,591 european ancestry cases//1,466 european ancestry controls(p-value = 2E-15 ;OR = 1.29). 0.4 Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1. NCRV0000003369 28448500 NONHSAT210418.1 rs943466 G N/A 2,518 african american women//86,278 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//55,137 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men EFO_0001073 joint analysis main effects and physical activity interaction Associate Body mass index rs943466-G of NONHSAT210418.1 is significantly associated with the body mass index by using GWAS analysis in 2,518 african american women//86,278 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//55,137 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men(p-value = 3E-8 ;OR = 0.0242). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. NCRV0000002715 20852632 NONHSAT185940.1 rs2072590 T N/A 1,768 european ancestry cases//2,354 european ancestry controls; 8,709 european ancestry cases//51,764 european ancestry controls EFO_0001075 N/A Associate Ovarian cancer rs2072590-T of NONHSAT185940.1 is significantly associated with the ovarian cancer by using GWAS analysis in 1,768 european ancestry cases//2,354 european ancestry controls; 8,709 european ancestry cases//51,764 european ancestry controls(p-value = 5E-14 ;OR = 1.16). 0.4 A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24. NCRV0000001619 28448500 NONHSAT186577.1 rs4854344 T N/A 561 african american women//352 filipino ancestry women//725 indian ancestry women//19,366 european ancestry women//251 african american men//4,654 indian ancestry men//11,727 european ancestry men//959 european ancestry individuals; 1,437 african american women//5,184 european ancestry women//64 african american men//5,416 european ancestry men EFO_0001073 joint analysis main effects and physical activity interaction Associate Body mass index rs4854344-T of NONHSAT186577.1 is significantly associated with the body mass index by using GWAS analysis in 561 african american women//352 filipino ancestry women//725 indian ancestry women//19,366 european ancestry women//251 african american men//4,654 indian ancestry men//11,727 european ancestry men//959 european ancestry individuals; 1,437 african american women//5,184 european ancestry women//64 african american men//5,416 european ancestry men(p-value = 2E-22 ;OR = 0.0678). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. NCRV0000000695 25673413 NONHSAT128025.2 rs3134353 T N/A up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals EFO_0001073 N/A Associate Body mass index rs3134353-T of NONHSAT128025.2 is significantly associated with the body mass index by using GWAS analysis in up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals(p-value = 7E-6 ;OR = 0.018). 0.4 Genetic studies of body mass index yield new insights for obesity biology. NCRV0000002390 23918034 NONHSAT087096.2 rs13058467 C N/A 88 european ancestry cases//580 european ancestry controls EFO_0005321 N/A Associate Molar-incisor hypomineralization rs13058467-C of NONHSAT087096.2 is significantly associated with the molar-incisor hypomineralization by using GWAS analysis in 88 european ancestry cases//580 european ancestry controls(p-value = 4E-7 ;OR = 4.4). 0.4 Genome-wide association study (GWAS) for molar-incisor hypomineralization (MIH). NCRV0000003708 22864933 NONHSAT149946.1 rs576523 ? N/A up to 84 east asian ancestry lymphoblastoid cell lines//up to 164 european ancestry lymphoblastoid cell lines//up to 173 african ancestry lymphoblastoid cell lines//up to 82 african american lymphoblastoid cell lines GO_0097327 N/A Associate Capecitabine sensitivity rs576523-? of NONHSAT149946.1 is significantly associated with the capecitabine sensitivity by using GWAS analysis in up to 84 east asian ancestry lymphoblastoid cell lines//up to 164 european ancestry lymphoblastoid cell lines//up to 173 african ancestry lymphoblastoid cell lines//up to 82 african american lymphoblastoid cell lines(p-value = 2E-7 ;OR = ?). 0.4 Identification of novel germline polymorphisms governing capecitabine sensitivity. NCRV0000000977 27863252 NONHSAT010798.2 rs3811444 T N/A 172,433 european ancestry individuals EFO_0004526 N/A Associate Mean corpuscular volume rs3811444-T of NONHSAT010798.2 is significantly associated with the mean corpuscular volume by using GWAS analysis in 172,433 european ancestry individuals(p-value = 2E-63 ;OR = 0.06266884). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003435 23670970 NONHSAT154486.1 rs4077468 A N/A 644 cystic fibrosis-related diabetes cases//2,415 cystic fibrosis controls; 124 cystic fibrosis-related diabetes cases//570 cystic fibrosis controls EFO_0001360 N/A Associate Cystic fibrosis-related diabetes rs4077468-A of NONHSAT154486.1 is significantly associated with the cystic fibrosis-related diabetes by using GWAS analysis in 644 cystic fibrosis-related diabetes cases//2,415 cystic fibrosis controls; 124 cystic fibrosis-related diabetes cases//570 cystic fibrosis controls(p-value = 1E-9 ;OR = 1.39). 0.4 Genetic modifiers of cystic fibrosis-related diabetes. NCRV0000003496 27863252 NONHSAT010798.2 rs3811444 T N/A 172,851 european ancestry individuals EFO_0004527 N/A Associate Mean corpuscular hemoglobin concentration rs3811444-T of NONHSAT010798.2 is significantly associated with the mean corpuscular hemoglobin concentration by using GWAS analysis in 172,851 european ancestry individuals(p-value = 4E-39 ;OR = 0.04786762). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003225 27399966 NONHSAT184970.1 rs6705628 ? N/A 1,659 chinese ancestry cases//3,398 chinese ancestry controls//4,036 european ancestry cases//6,959 european ancestry controls; 3,043 chinese ancestry cases//5,074 chinese ancestry controls//2,643 european ancestry cases//9,032 european ancestry controls EFO_0002690 N/A Associate Systemic lupus erythematosus rs6705628-? of NONHSAT184970.1 is significantly associated with the systemic lupus erythematosus by using GWAS analysis in 1,659 chinese ancestry cases//3,398 chinese ancestry controls//4,036 european ancestry cases//6,959 european ancestry controls; 3,043 chinese ancestry cases//5,074 chinese ancestry controls//2,643 european ancestry cases//9,032 european ancestry controls(p-value = 3E-8 ;OR = 1.4). 0.4 Genome-wide association meta-analysis in Chinese and European individuals identifies ten new loci associated with systemic lupus erythematosus. NCRV0000000510 24121790 NONHSAT194847.1 rs7632500 C N/A 3,928 european ancestry cases//3,207 european ancestry controls; 1,636 european ancestry cases//6,911 european ancestry controls EFO_0000478 N/A Associate Digestive system disease (barrett's esophagus and esophageal adenocarcinoma combined) rs7632500-C of NONHSAT194847.1 is significantly associated with the digestive system disease (barrett's esophagus and esophageal adenocarcinoma combined) by using GWAS analysis in 3,928 european ancestry cases//3,207 european ancestry controls; 1,636 european ancestry cases//6,911 european ancestry controls(p-value = 1E-6 ;OR = 1.37). 0.4 A genome-wide association study identifies new susceptibility loci for esophageal adenocarcinoma and Barrett's esophagus. NCRV0000000580 27126917 NONHSAT183305.1 rs62182887 A N/A 874 european ancestry individuals EFO_0007828 N/A Associate Daytime sleep phenotypes rs62182887-A of NONHSAT183305.1 is significantly associated with the daytime sleep phenotypes by using GWAS analysis in 874 european ancestry individuals(p-value = 3E-6 ;OR = 1.15). 0.4 Genome-wide association analysis of actigraphic sleep phenotypes in the LIFE Adult Study. NCRV0000000554 27863252 NONHSAT182281.1 rs34020101 T N/A 172,275 european ancestry individuals EFO_0004842 N/A Associate Eosinophil counts rs34020101-T of NONHSAT182281.1 is significantly associated with the eosinophil counts by using GWAS analysis in 172,275 european ancestry individuals(p-value = 5E-32 ;OR = 0.04290931). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000778 22036096 NONHSAT188617.1 rs1044573 A N/A 3,933 european ancestry cases//8,965 european ancestry controls EFO_0003956 N/A Associate Allergic rhinitis rs1044573-A of NONHSAT188617.1 is significantly associated with the allergic rhinitis by using GWAS analysis in 3,933 european ancestry cases//8,965 european ancestry controls(p-value = 1E-6 ;OR = 1.15). 0.4 A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order. NCRV0000001543 24159190 NONHSAT178760.1 rs78192384 A N/A 5110 european ancestry individuals EFO_0005418 N/A Associate Symmetrical dimethylarginine levels rs78192384-A of NONHSAT178760.1 is significantly associated with the symmetrical dimethylarginine levels by using GWAS analysis in 5110 european ancestry individuals(p-value = 7E-6 ;OR = 0.27). 0.4 Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality. NCRV0000002730 23263486 NONHSAT130710.2 rs10813960 T N/A 49,825 european ancestry males//60,522 european ancestry females; up to 32,813 european ancestry individuals EFO_0004531 N/A Associate Urate levels rs10813960-T of NONHSAT130710.2 is significantly associated with the urate levels by using GWAS analysis in 49,825 european ancestry males//60,522 european ancestry females; up to 32,813 european ancestry individuals(p-value = 4E-7 ;OR = 0.03). 0.4 Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. NCRV0000001528 23535729 NONHSAT217627.1 rs11780156 T N/A 10,052 european ancestry cases//12,575 european ancestry controls; 45,290 european ancestry cases//41,880 european ancestry controls EFO_0000305 N/A Associate Breast cancer rs11780156-T of NONHSAT217627.1 is significantly associated with the breast cancer by using GWAS analysis in 10,052 european ancestry cases//12,575 european ancestry controls; 45,290 european ancestry cases//41,880 european ancestry controls(p-value = 3E-11 ;OR = 1.07). 0.4 Large-scale genotyping identifies 41 new loci associated with breast cancer risk. NCRV0000001023 19060911 NONHSAT179794.1 rs439401 G N/A 17,100 european ancestry individuals//715 orcadian individuals EFO_0000319 N/A Associate Triglycerides rs439401-G of NONHSAT179794.1 is significantly associated with the triglycerides by using GWAS analysis in 17,100 european ancestry individuals//715 orcadian individuals(p-value = 2E-9 ;OR = 0.09). 0.4 Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. NCRV0000001172 28892062 NONHSAT145215.2 rs3026101 C N/A up to 72,390 japanese ancestry women//up to 85,894 japanese ancestry men; up to 10,048 japanese ancestry women//up to 5,098 japanese ancestry men//up to 181,999 european ancestry women//up to 140,155 european ancestry controls EFO_0001073 N/A Associate Body mass index rs3026101-C of NONHSAT145215.2 is significantly associated with the body mass index by using GWAS analysis in up to 72,390 japanese ancestry women//up to 85,894 japanese ancestry men; up to 10,048 japanese ancestry women//up to 5,098 japanese ancestry men//up to 181,999 european ancestry women//up to 140,155 european ancestry controls(p-value = 9E-9 ;OR = 0.014). 0.4 Genome-wide association study identifies 112 new loci for body mass index in the Japanese population. NCRV0000001369 23006423 NONHSAT063953.2 rs7260598 ? N/A 96 african american lymphoblastoid cell lines//96 european ancestry lymphoblastoid cell lines//96 han chinese ancestry lymphoblastoid cell lines GO_1901555 EFO_0007804 Associate Response to taxane treatment (placlitaxel) rs7260598-? of NONHSAT063953.2 is significantly associated with the response to taxane treatment (placlitaxel) by using GWAS analysis in 96 african american lymphoblastoid cell lines//96 european ancestry lymphoblastoid cell lines//96 han chinese ancestry lymphoblastoid cell lines(p-value = 6E-6 ;OR = ?). 0.4 Genetic association with overall survival of taxane-treated lung cancer patients - a genome-wide association study in human lymphoblastoid cell lines followed by a clinical association study. NCRV0000000241 27863252 NONHSAT158820.1 rs415895 G N/A 172,851 european ancestry individuals EFO_0004527 N/A Associate Mean corpuscular hemoglobin concentration rs415895-G of NONHSAT158820.1 is significantly associated with the mean corpuscular hemoglobin concentration by using GWAS analysis in 172,851 european ancestry individuals(p-value = 5E-11 ;OR = 0.02381166). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000879 28314753 NONHSAT115190.2 rs2230926 G N/A 700 japanese ancestry cases//1,797 japanese ancestry controls//564 european ancestry cases//1,776 european ancestry controls; 564 japanese ancestry cases//1,863 japanese ancestry controls//2,592 european ancestry cases//9,315 european ancestry controls EFO_0000717 N/A Associate Systemic sclerosis rs2230926-G of NONHSAT115190.2 is significantly associated with the systemic sclerosis by using GWAS analysis in 700 japanese ancestry cases//1,797 japanese ancestry controls//564 european ancestry cases//1,776 european ancestry controls; 564 japanese ancestry cases//1,863 japanese ancestry controls//2,592 european ancestry cases//9,315 european ancestry controls(p-value = 2E-6 ;OR = 0.801). 0.4 Transethnic meta-analysis identifies GSDMA and PRDM1 as susceptibility genes to systemic sclerosis. NCRV0000001514 27863252 NONHSAT142350.2 rs535680968 CT N/A 172,378 european ancestry individuals EFO_0007991 N/A Associate Eosinophil percentage of white cells rs535680968-CT of NONHSAT142350.2 is significantly associated with the eosinophil percentage of white cells by using GWAS analysis in 172,378 european ancestry individuals(p-value = 1E-12 ;OR = 0.02823114). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001771 25231870 NONHSAT143379.2 rs929843 A N/A up to 182,413 european ancestry females EFO_0004703 N/A Associate Menarche (age at onset) rs929843-A of NONHSAT143379.2 is significantly associated with the menarche (age at onset) by using GWAS analysis in up to 182,413 european ancestry females(p-value = 1E-11 ;OR = 0.04). 0.4 Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. NCRV0000003404 27863252 NONHSAT142350.2 rs535680968 CT N/A 170,672 european ancestry individuals EFO_0007994 N/A Associate Neutrophil percentage of granulocytes rs535680968-CT of NONHSAT142350.2 is significantly associated with the neutrophil percentage of granulocytes by using GWAS analysis in 170,672 european ancestry individuals(p-value = 6E-11 ;OR = 0.0262416). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000092 27863252 NONHSAT142350.2 rs535680968 CT N/A 170,536 european ancestry individuals EFO_0007996 N/A Associate Eosinophil percentage of granulocytes rs535680968-CT of NONHSAT142350.2 is significantly associated with the eosinophil percentage of granulocytes by using GWAS analysis in 170,536 european ancestry individuals(p-value = 6E-11 ;OR = 0.02623913). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003333 27488534 NONHSAT179751.1 rs2316205 C N/A 437 european ancestry individuals//364 african american individuals//453 latino individuals//674 japanese american individuals//311 native hawaiian ancestry individuals EFO_0004318 N/A Associate Nicotine metabolite ratio in current smokers rs2316205-C of NONHSAT179751.1 is significantly associated with the nicotine metabolite ratio in current smokers by using GWAS analysis in 437 european ancestry individuals//364 african american individuals//453 latino individuals//674 japanese american individuals//311 native hawaiian ancestry individuals(p-value = 4E-14 ;OR = 0.1786). 0.4 Novel Association of Genetic Markers Affecting CYP2A6 Activity and Lung Cancer Risk. NCRV0000000252 28928442 NONHSAT190368.1 rs184381862 ? N/A 842 european ancestry cases//82,778 european ancestry controls EFO_0008411 N/A Associate Bacterial meningitis rs184381862-? of NONHSAT190368.1 is significantly associated with the bacterial meningitis by using GWAS analysis in 842 european ancestry cases//82,778 european ancestry controls(p-value = 3E-6 ;OR = 1.4256). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. NCRV0000001519 28604732 NONHSAT027070.2 rs2900333 T N/A 3,558 european ancestry cases//13,970 european ancestry controls EFO_1000566 N/A Associate Testicular germ cell tumor rs2900333-T of NONHSAT027070.2 is significantly associated with the testicular germ cell tumor by using GWAS analysis in 3,558 european ancestry cases//13,970 european ancestry controls(p-value = 3E-8 ;OR = 1.1764705). 0.4 Meta-analysis of five genome-wide association studies identifies multiple new loci associated with testicular germ cell tumor. NCRV0000001519 28604728 NONHSAT027070.2 rs2900333 C N/A 5,518 european ancestry cases//19,055 european ancestry controls; 1,801 european ancestry cases//4,027 european ancestry controls EFO_1000566 N/A Associate Testicular germ cell tumor rs2900333-C of NONHSAT027070.2 is significantly associated with the testicular germ cell tumor by using GWAS analysis in 5,518 european ancestry cases//19,055 european ancestry controls; 1,801 european ancestry cases//4,027 european ancestry controls(p-value = 9E-13 ;OR = 1.2). 0.4 Identification of 19 new risk loci and potential regulatory mechanisms influencing susceptibility to testicular germ cell tumor. NCRV0000003139 28067908 NONHSAT206871.1 rs17119 ? N/A 12,366 european and unknown ancestry cases//33,609 european and unknown ancestry controls EFO_0000729 N/A Associate Ulcerative colitis rs17119-? of NONHSAT206871.1 is significantly associated with the ulcerative colitis by using GWAS analysis in 12,366 european and unknown ancestry cases//33,609 european and unknown ancestry controls(p-value = 7E-7 ;OR = ?). 0.4 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. NCRV0000001635 27989323 NONHSAT173596.1 rs35137126 GC N/A 7,701 finnish ancestry individuals EFO_0008165 N/A Associate Interferon gamma levels rs35137126-GC of NONHSAT173596.1 is significantly associated with the interferon gamma levels by using GWAS analysis in 7,701 finnish ancestry individuals(p-value = 9E-6 ;OR = 0.0772). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. NCRV0000001462 20436469 NONHSAT218889.1 rs987525 A N/A 825 european ancestry trios//1,038 asian ancestry trios; 2,194 asian ancestry family members//322 south asian ancestry family members//3,830 european ancestry family members//1,769 south and central american ancestry family members EFO_0003959 N/A Associate Cleft lip rs987525-A of NONHSAT218889.1 is significantly associated with the cleft lip by using GWAS analysis in 825 european ancestry trios//1,038 asian ancestry trios; 2,194 asian ancestry family members//322 south asian ancestry family members//3,830 european ancestry family members//1,769 south and central american ancestry family members(p-value = 4E-16 ;OR = 1.78). 0.4 A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4. NCRV0000003458 23666240 NONHSAT027070.2 rs2900333 C N/A 986 european ancestry cases//4,946 european ancestry controls; 1,064 european ancestry cases//10,082 european ancestry controls EFO_0005088 N/A Associate Testicular germ cell tumor rs2900333-C of NONHSAT027070.2 is significantly associated with the testicular germ cell tumor by using GWAS analysis in 986 european ancestry cases//4,946 european ancestry controls; 1,064 european ancestry cases//10,082 european ancestry controls(p-value = 1E-13 ;OR = 1.32). 0.4 Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14. NCRV0000002621 28604730 NONHSAT219406.1 rs10758203 G N/A 11,273 european ancestry cases// 55,483 european ancestry controls EFO_0000571 N/A Associate Lung adenocarcinoma rs10758203-G of NONHSAT219406.1 is significantly associated with the lung adenocarcinoma by using GWAS analysis in 11,273 european ancestry cases// 55,483 european ancestry controls(p-value = 9E-7 ;OR = 1.0911608). 0.4 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. NCRV0000003042 26034056 NONHSAT216396.1 rs6983267 G N/A 6,406 european ancestry cases//601 african american cases//288 east asian ancestry cases//488 latino cases30,866 european ancestry controls//1,650 african american controls//2,938 east asian ancestry controls//3,141 latino controls; 4,599 european ancestry cases//2,265 african american cases//2,940 european ancestry controls//2,414 african american controls EFO_0001663 N/A Associate Prostate cancer rs6983267-G of NONHSAT216396.1 is significantly associated with the prostate cancer by using GWAS analysis in 6,406 european ancestry cases//601 african american cases//288 east asian ancestry cases//488 latino cases30,866 european ancestry controls//1,650 african american controls//2,938 east asian ancestry controls//3,141 latino controls; 4,599 european ancestry cases//2,265 african american cases//2,940 european ancestry controls//2,414 african american controls(p-value = 3E-24 ;OR = 1.25). 0.4 A large multiethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences. NCRV0000001159 25673413 NONHSAT171950.1 rs4984406 T N/A up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals EFO_0001073 N/A Associate Body mass index rs4984406-T of NONHSAT171950.1 is significantly associated with the body mass index by using GWAS analysis in up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals(p-value = 1E-6 ;OR = 0.019). 0.4 Genetic studies of body mass index yield new insights for obesity biology. NCRV0000002647 28346443 NONHSAT086659.2 rs2235573 G N/A 6,191 european ancestry cases//18,190 european ancestry controls. EFO_0000519 N/A Associate Glioblastoma rs2235573-G of NONHSAT086659.2 is significantly associated with the glioblastoma by using GWAS analysis in 6,191 european ancestry cases//18,190 european ancestry controls.(p-value = 2E-10 ;OR = 1.15). 0.4 Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors. NCRV0000003835 22589738 NONHSAT151459.1 rs7547921 A N/A 5,560 european ancestry female individuals//4,997 european ancestry male individuals EFO_0004767 N/A Associate Visceral adipose tissue/subcutaneous adipose tissue ratio rs7547921-A of NONHSAT151459.1 is significantly associated with the visceral adipose tissue/subcutaneous adipose tissue ratio by using GWAS analysis in 5,560 european ancestry female individuals//4,997 european ancestry male individuals(p-value = 8E-6 ;OR = ?). 0.4 Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. NCRV0000002146 26634245 NONHSAT205693.1 rs140065777 T N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs140065777-T of NONHSAT205693.1 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 4E-6 ;OR = 0.312). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000001538 26912274 NONHSAT032215.2 rs2440012 C N/A 2,178 han chinese ancestry centenarian cases//2,299 han chinese ancestry middle-age controls EFO_0004300 N/A Associate Longevity rs2440012-C of NONHSAT032215.2 is significantly associated with the longevity by using GWAS analysis in 2,178 han chinese ancestry centenarian cases//2,299 han chinese ancestry middle-age controls(p-value = 4E-8 ;OR = 1.6611296). 0.4 Novel loci and pathways significantly associated with longevity. NCRV0000000520 28754779 NONHSAT123845.2 rs4987704 ? N/A 1,959 european ancestry cases//1,488 european ancestry alcohol abuse controls//4,552 european ancestry controls EFO_1002013 N/A Associate Alcoholic chronic pancreatitis rs4987704-? of NONHSAT123845.2 is significantly associated with the alcoholic chronic pancreatitis by using GWAS analysis in 1,959 european ancestry cases//1,488 european ancestry alcohol abuse controls//4,552 european ancestry controls(p-value = 2E-6 ;OR = 1.404692). 0.4 Genome-wide association study identifies inversion in the CTRB1-CTRB2 locus to modify risk for alcoholic and non-alcoholic chronic pancreatitis. NCRV0000001702 23382691 NONHSAT190020.1 rs586446 C N/A 2,247 european ancestry individuals EFO_0002690 N/A Associate Igg glycosylation rs586446-C of NONHSAT190020.1 is significantly associated with the igg glycosylation by using GWAS analysis in 2,247 european ancestry individuals(p-value = 2E-6 ;OR = 0.2296). 0.4 Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. NCRV0000002212 27863252 NONHSAT144156.2 rs6540234 C N/A 169,545 european ancestry individuals EFO_0007997 N/A Associate Granulocyte percentage of myeloid white cells rs6540234-C of NONHSAT144156.2 is significantly associated with the granulocyte percentage of myeloid white cells by using GWAS analysis in 169,545 european ancestry individuals(p-value = 1E-42 ;OR = 0.05408768). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002864 26301688 NONHSAT017487.2 rs17885785 T N/A 97 european ancestry thyroiditis cases//107 european ancestry ankylosing spondylitis cases//100 european ancestry psoriasis cases//173 european ancestry celiac disease cases//254 european ancestry systemic lupus erythematosus cases//308 european ancestry common variable inmunodeficiency cases//865 european ancestry ulcerative colitis cases//1,086 european ancestry type 1 diabetes cases//1,123 european ancestry juvenile idiopathic arthritis cases//1,922 european ancestry crohn's disease cases//10,718 european ancestry controls EFO_0000540 N/A Associate Pediatric autoimmune diseases rs17885785-T of NONHSAT017487.2 is significantly associated with the pediatric autoimmune diseases by using GWAS analysis in 97 european ancestry thyroiditis cases//107 european ancestry ankylosing spondylitis cases//100 european ancestry psoriasis cases//173 european ancestry celiac disease cases//254 european ancestry systemic lupus erythematosus cases//308 european ancestry common variable inmunodeficiency cases//865 european ancestry ulcerative colitis cases//1,086 european ancestry type 1 diabetes cases//1,123 european ancestry juvenile idiopathic arthritis cases//1,922 european ancestry crohn's disease cases//10,718 european ancestry controls(p-value = 8E-11 ;OR = ?). 0.4 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases. NCRV0000002885 23251661 NONHSAT079731.2 rs8120917 A N/A 815 hispanic children from 263 families EFO_0004908 N/A Associate Obesity-related traits rs8120917-A of NONHSAT079731.2 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 6E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. NCRV0000001049 20834067 NONHSAT193352.1 rs9616906 ? N/A 1,173 individuals EFO_0004300 N/A Associate Longevity rs9616906-? of NONHSAT193352.1 is significantly associated with the longevity by using GWAS analysis in 1,173 individuals(p-value = 1E-6 ;OR = ?). 0.4 Joint influence of small-effect genetic variants on human longevity. NCRV0000002338 22139419 NONHSAT180207.1 rs8109288 G N/A 38,891 european ancestry individuals//1,661 val borbera (founder/genetic isolate) individuals//521 carlantino (founder/genetic isolate) individuals//1,198 friuli venezia giulia (founder/genetic isolate) individuals//1,213 south tyrolean (founder/genetic isolate) individuals//890 sorbian (founder/genetic isolate) individuals//4,292 sardinian (founder/genetic isolate) individuals; up to 16,949 european ancestry individuals//854 cliento (founder/genetic isolate) individuals//1,035 talana (founder/genetic isolate) individuals EFO_0004309 N/A Associate Platelet count rs8109288-G of NONHSAT180207.1 is significantly associated with the platelet count by using GWAS analysis in 38,891 european ancestry individuals//1,661 val borbera (founder/genetic isolate) individuals//521 carlantino (founder/genetic isolate) individuals//1,198 friuli venezia giulia (founder/genetic isolate) individuals//1,213 south tyrolean (founder/genetic isolate) individuals//890 sorbian (founder/genetic isolate) individuals//4,292 sardinian (founder/genetic isolate) individuals; up to 16,949 european ancestry individuals//854 cliento (founder/genetic isolate) individuals//1,035 talana (founder/genetic isolate) individuals(p-value = 3E-10 ;OR = 11.945). 0.4 New gene functions in megakaryopoiesis and platelet formation. NCRV0000000513 21782286 NONHSAT060562.2 rs10412199 G N/A 16,995 european ancestry individuals GO_0007568 N/A Associate Aging (time to event) rs10412199-G of NONHSAT060562.2 is significantly associated with the aging (time to event) by using GWAS analysis in 16,995 european ancestry individuals(p-value = 3E-6 ;OR = 1.1). 0.4 A genome-wide association study of aging. NCRV0000001510 26634245 NONHSAT186566.1 rs150411716 T N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs150411716-T of NONHSAT186566.1 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 3E-6 ;OR = 1.69). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000002228 27797806 NONHSAT186459.1 rs6431308 A N/A 1,778 european ancestry cases//5,376 european ancestry controls; 1,029 european ancestry cases//1,065 european ancestry controls EFO_0003108 N/A Associate Essential tremor rs6431308-A of NONHSAT186459.1 is significantly associated with the essential tremor by using GWAS analysis in 1,778 european ancestry cases//5,376 european ancestry controls; 1,029 european ancestry cases//1,065 european ancestry controls(p-value = 2E-7 ;OR = 1.2345679). 0.4 Genome-wide association study in essential tremor identifies three new loci. NCRV0000002036 28604728 NONHSAT151091.1 rs4240895 T N/A 5,518 european ancestry cases//19,055 european ancestry controls; 1,801 european ancestry cases//4,027 european ancestry controls EFO_1000566 N/A Associate Testicular germ cell tumor rs4240895-T of NONHSAT151091.1 is significantly associated with the testicular germ cell tumor by using GWAS analysis in 5,518 european ancestry cases//19,055 european ancestry controls; 1,801 european ancestry cases//4,027 european ancestry controls(p-value = 6E-13 ;OR = 1.14). 0.4 Identification of 19 new risk loci and potential regulatory mechanisms influencing susceptibility to testicular germ cell tumor. NCRV0000000251 25903422 NONHSAT161617.1 rs55974252 C N/A 3,496 european ancestry cases//5,186 european ancestry controls//1,588 chinese ancestry cases//3,546 chinese ancestry controls; 5,134 european ancestry cases//5,633 european ancestry controls//5,151 chinese ancestry cases//5,152 chinese ancestry controls EFO_0000676 N/A Associate Psoriasis rs55974252-C of NONHSAT161617.1 is significantly associated with the psoriasis by using GWAS analysis in 3,496 european ancestry cases//5,186 european ancestry controls//1,588 chinese ancestry cases//3,546 chinese ancestry controls; 5,134 european ancestry cases//5,633 european ancestry controls//5,151 chinese ancestry cases//5,152 chinese ancestry controls(p-value = 3E-6 ;OR = 1.12). 0.4 Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility. NCRV0000002299 27992416 NONHSAT185367.1 rs62158211 T N/A 111,975 european ancestry individuals EFO_0008568 N/A Associate Sleep duration rs62158211-T of NONHSAT185367.1 is significantly associated with the sleep duration by using GWAS analysis in 111,975 european ancestry individuals(p-value = 5E-14 ;OR = 0.039). 0.4 Genome-wide association analyses of sleep disturbance traits identify new loci and highlight shared genetics with neuropsychiatric and metabolic traits. NCRV0000000475 23251661 NONHSAT066320.2 rs8103033 G N/A 815 hispanic children from 263 families EFO_0005190 N/A Associate Obesity-related traits rs8103033-G of NONHSAT066320.2 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 8E-6 ;OR = 0.04). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. NCRV0000000837 23918034 NONHSAT142986.2 rs1126179 G N/A 88 european ancestry cases//580 european ancestry controls EFO_0005321 N/A Associate Molar-incisor hypomineralization rs1126179-G of NONHSAT142986.2 is significantly associated with the molar-incisor hypomineralization by using GWAS analysis in 88 european ancestry cases//580 european ancestry controls(p-value = 3E-6 ;OR = 2.13). 0.4 Genome-wide association study (GWAS) for molar-incisor hypomineralization (MIH). NCRV0000002053 28334935 NONHSAT186971.1 rs144403535 A N/A 12,586 hispanic/latino individuals EFO_0006334 N/A Associate Iron status biomarkers (total iron binding capacity) rs144403535-A of NONHSAT186971.1 is significantly associated with the iron status biomarkers (total iron binding capacity) by using GWAS analysis in 12,586 hispanic/latino individuals(p-value = 7E-8 ;OR = 1.095). 0.4 Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation? NCRV0000002684 23505185 NONHSAT186494.1 rs11680012 C N/A 928 french canadian individuals EFO_0001073 N/A Associate Adiposity rs11680012-C of NONHSAT186494.1 is significantly associated with the adiposity by using GWAS analysis in 928 french canadian individuals(p-value = 4E-6 ;OR = 0.581). 0.4 A variant in the LRRFIP1 gene is associated with adiposity and inflammation. NCRV0000003029 20018283 NONHSAT196733.1 rs17366568 G N/A 4,659 european ancestry individuals; 13,795 european ancestry individuals EFO_0000319 N/A Associate Adiponectin levels rs17366568-G of NONHSAT196733.1 is significantly associated with the adiponectin levels by using GWAS analysis in 4,659 european ancestry individuals; 13,795 european ancestry individuals(p-value = 1E-41 ;OR = 0.13). 0.4 Clear detection of ADIPOQ locus as the major gene for plasma adiponectin: results of genome-wide association analyses including 4659 European individuals. NCRV0000000526 21685187 NONHSAT210414.1 rs9394152 T N/A 3,397 european ancestry cases EFO_0005670 N/A Associate Age at smoking initiation in chronic obstructive pulmonary disease rs9394152-T of NONHSAT210414.1 is significantly associated with the age at smoking initiation in chronic obstructive pulmonary disease by using GWAS analysis in 3,397 european ancestry cases(p-value = 7E-8 ;OR = 0.045). 0.4 Genome-wide association study of smoking behaviours in patients with COPD. NCRV0000001858 25811787 NONHSAT192210.1 rs11705126 C N/A 4,613 european ancestry male individuals//4,690 european ancestry female individuals//142 european ancestry individuals EFO_0004531 N/A Associate Urate levels in obese individuals rs11705126-C of NONHSAT192210.1 is significantly associated with the urate levels in obese individuals by using GWAS analysis in 4,613 european ancestry male individuals//4,690 european ancestry female individuals//142 european ancestry individuals(p-value = 4E-6 ;OR = 0.236). 0.4 Modulation of genetic associations with serum urate levels by body-mass-index in humans. NCRV0000000035 27863252 NONHSAT108210.2 rs1799945 G N/A 170,690 european ancestry individuals EFO_0007986 N/A Associate Reticulocyte count rs1799945-G of NONHSAT108210.2 is significantly associated with the reticulocyte count by using GWAS analysis in 170,690 european ancestry individuals(p-value = 2E-30 ;OR = 0.0573814). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001645 26252872 NONHSAT179793.1 rs429358 T N/A up to 883 european and other ancestry individuals EFO_0000249 N/A Associate Cerebral amyloid deposition (pet imaging) rs429358-T of NONHSAT179793.1 is significantly associated with the cerebral amyloid deposition (pet imaging) by using GWAS analysis in up to 883 european and other ancestry individuals(p-value = 8E-32 ;OR = 0.13). 0.4 Variations in the FRA10AC1 Fragile Site and 15q21 Are Associated with Cerebrospinal Fluid Abeta1-42 Level. NCRV0000001999 19836008 NONHSAT108486.2 rs4324798 A N/A 5,739 european ancestry cases//5,848 european ancestry controls; 7,561 european ancestry cases//13,818 european ancestry controls EFO_0000571 N/A Associate Lung adenocarcinoma rs4324798-A of NONHSAT108486.2 is significantly associated with the lung adenocarcinoma by using GWAS analysis in 5,739 european ancestry cases//5,848 european ancestry controls; 7,561 european ancestry cases//13,818 european ancestry controls(p-value = 2E-8 ;OR = 1.16). 0.4 A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma. NCRV0000001061 25866641 NONHSAT170655.1 rs10152207 ? N/A 171 european ancestry cases EFO_1000657 N/A Associate Survival in rectal cancer rs10152207-? of NONHSAT170655.1 is significantly associated with the survival in rectal cancer by using GWAS analysis in 171 european ancestry cases(p-value = 5E-6 ;OR = 3.06). 0.4 A genome wide association study on Newfoundland colorectal cancer patients' survival outcomes. NCRV0000003823 19448619 NONHSAT166352.1 rs7333181 A N/A 2,979 european ancestry female individuals; 2,560 european ancestry female individuals EFO_0004704 N/A Associate Menopause (age at onset) rs7333181-A of NONHSAT166352.1 is significantly associated with the menopause (age at onset) by using GWAS analysis in 2,979 european ancestry female individuals; 2,560 european ancestry female individuals(p-value = 3E-8 ;OR = 0.52). 0.4 Loci at chromosomes 13, 19 and 20 influence age at natural menopause. NCRV0000002782 26835600 NONHSAT077747.2 rs111706465 ? N/A 38,937 european ancestry morning chronotype individuals//50,346 european ancestry evening chronotype individuals EFO_0004354 N/A Associate Morning vs. evening chronotype rs111706465-? of NONHSAT077747.2 is significantly associated with the morning vs. evening chronotype by using GWAS analysis in 38,937 european ancestry morning chronotype individuals//50,346 european ancestry evening chronotype individuals(p-value = 2E-8 ;OR = ?). 0.4 GWAS of 89,283 individuals identifies genetic variants associated with self-reporting of being a morning person. NCRV0000002940 29064472 NONHSAT213948.1 rs17867775 T N/A 114 african ancestry schizophrenia cases//69 african schizo-affective cases//41 african ancestry bipolar disorder cases//76 african ancestry controls//116 european ancestry schizophrenia cases//86 european ancestry schizo-affective cases//165 european ancestry bipolar disorder cases//182 european ancestry controls EFO_0000677 N/A Associate Anti-saccade response rs17867775-T of NONHSAT213948.1 is significantly associated with the anti-saccade response by using GWAS analysis in 114 african ancestry schizophrenia cases//69 african schizo-affective cases//41 african ancestry bipolar disorder cases//76 african ancestry controls//116 european ancestry schizophrenia cases//86 european ancestry schizo-affective cases//165 european ancestry bipolar disorder cases//182 european ancestry controls(p-value = 6E-6 ;OR = ?). 0.4 Genome-wide association studies of smooth pursuit and antisaccade eye movements in psychotic disorders: findings from the B-SNIP study. NCRV0000003226 27863252 NONHSAT044111.2 rs261332 G N/A 172,925 european ancestry individuals EFO_0004509 N/A Associate Hemoglobin concentration rs261332-G of NONHSAT044111.2 is significantly associated with the hemoglobin concentration by using GWAS analysis in 172,925 european ancestry individuals(p-value = 7E-9 ;OR = 0.02541862). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001140 27863252 NONHSAT161775.1 rs4149577 A N/A 170,721 european ancestry individuals EFO_0005091 N/A Associate Monocyte count rs4149577-A of NONHSAT161775.1 is significantly associated with the monocyte count by using GWAS analysis in 170,721 european ancestry individuals(p-value = 1E-16 ;OR = 0.02984807). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002982 23903356 NONHSAT215396.1 rs4841132 G N/A 1,367 european ancestry individuals//817 hispanic individuals//1,075 afro-caribbean individuals//1,178 thai ancestry individuals; 2,798 european ancestry individuals//228 french canadian founder population individuals EFO_0005187 N/A Associate Glycemic traits (pregnancy) rs4841132-G of NONHSAT215396.1 is significantly associated with the glycemic traits (pregnancy) by using GWAS analysis in 1,367 european ancestry individuals//817 hispanic individuals//1,075 afro-caribbean individuals//1,178 thai ancestry individuals; 2,798 european ancestry individuals//228 french canadian founder population individuals(p-value = 5E-15 ;OR = 0.0294). 0.4 Identification of HKDC1 and BACE2 as genes influencing glycemic traits during pregnancy through genome-wide association studies. NCRV0000002999 27723757 NONHSAT023550.2 rs1126809 G N/A 2,853 european ancestry cases and 37,405 european ancestry controls; 1,827 european ancestry cases and 2,181 european ancestry controls EFO_0004208 N/A Associate Vitiligo rs1126809-G of NONHSAT023550.2 is significantly associated with the vitiligo by using GWAS analysis in 2,853 european ancestry cases and 37,405 european ancestry controls; 1,827 european ancestry cases and 2,181 european ancestry controls(p-value = 1E-43 ;OR = 1.497006). 0.4 Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants. NCRV0000003820 27046643 NONHSAT148836.1 rs11210887 ? N/A 111,114 european ancestry individuals EFO_0004784 N/A Associate Educational attainment rs11210887-? of NONHSAT148836.1 is significantly associated with the educational attainment by using GWAS analysis in 111,114 european ancestry individuals(p-value = 1E-8 ;OR = 0.0261903). 0.4 Genome-wide association study of cognitive functions and educational attainment in UK Biobank (N=112 151). NCRV0000003350 27659466 NONHSAT201025.1 rs1344852 ? N/A 59,565 european ancestry individuals//690 orcadian (founder/genetic isolate) individuals; 13,263 european ancestry individuals//3,603 african american individuals//4,619 indian ancestry individuals EFO_0003777 N/A Associate Qrs duration rs1344852-? of NONHSAT201025.1 is significantly associated with the qrs duration by using GWAS analysis in 59,565 european ancestry individuals//690 orcadian (founder/genetic isolate) individuals; 13,263 european ancestry individuals//3,603 african american individuals//4,619 indian ancestry individuals(p-value = 1E-9 ;OR = 0.47). 0.4 52 Genetic Loci Influencing Myocardial Mass. NCRV0000003197 27863252 NONHSAT200257.1 rs7679673 A N/A 170,702 european ancestry individuals EFO_0004833 N/A Associate Neutrophil count rs7679673-A of NONHSAT200257.1 is significantly associated with the neutrophil count by using GWAS analysis in 170,702 european ancestry individuals(p-value = 2E-10 ;OR = 0.02345559). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001235 26663301 NONHSAT115190.2 rs2230926 ? N/A 1,174 korean ancestry cases//4,246 korean ancestry controls; 739 korean ancestry cases// 677 chinese ancestry cases// 436 korean ancestry controls//709 chinese ancestry controls EFO_0002690 N/A Associate Systemic lupus erythematosus rs2230926-? of NONHSAT115190.2 is significantly associated with the systemic lupus erythematosus by using GWAS analysis in 1,174 korean ancestry cases//4,246 korean ancestry controls; 739 korean ancestry cases// 677 chinese ancestry cases// 436 korean ancestry controls//709 chinese ancestry controls(p-value = 2E-14 ;OR = 1.93). 0.4 Identification of a Systemic Lupus Erythematosus Risk Locus Spanning ATG16L2, FCHSD2, and P2RY2 in Koreans. NCRV0000003042 21743057 NONHSAT216396.1 rs6983267 G N/A 2,782 european ancestry cases//4,458 european ancestry controls; 7,358 european ancestry cases//6,732 european ancestry controls EFO_0001663 N/A Associate Prostate cancer rs6983267-G of NONHSAT216396.1 is significantly associated with the prostate cancer by using GWAS analysis in 2,782 european ancestry cases//4,458 european ancestry controls; 7,358 european ancestry cases//6,732 european ancestry controls(p-value = 9E-6 ;OR = 1.2). 0.4 Genome-wide association study identifies new prostate cancer susceptibility loci. NCRV0000001183 27863252 NONHSAT180720.1 rs11086102 C N/A 170,494 european ancestry individuals EFO_0007989 N/A Associate Monocyte percentage of white cells rs11086102-C of NONHSAT180720.1 is significantly associated with the monocyte percentage of white cells by using GWAS analysis in 170,494 european ancestry individuals(p-value = 1E-26 ;OR = 0.03966003). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003857 24144296 NONHSAT163675.1 rs10400419 T N/A 12,531 european ancestry individuals; 8,216 asian ancestry individuals EFO_0005318 N/A Associate Axial length rs10400419-T of NONHSAT163675.1 is significantly associated with the axial length by using GWAS analysis in 12,531 european ancestry individuals; 8,216 asian ancestry individuals(p-value = 2E-7 ;OR = 0.0562). 0.4 Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error. NCRV0000001605 19578365 NONHSAT192354.1 rs2284063 G N/A 1,524 european ancestry twins; 4,107 european ancestry individuals//3,131 european ancestry cases//4,276 european ancestry controls EFO_0000625 N/A Associate Cutaneous nevi rs2284063-G of NONHSAT192354.1 is significantly associated with the cutaneous nevi by using GWAS analysis in 1,524 european ancestry twins; 4,107 european ancestry individuals//3,131 european ancestry cases//4,276 european ancestry controls(p-value = 3E-8 ;OR = 0.08). 0.4 Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi. NCRV0000003271 25961943 NONHSAT179793.1 rs7412 C N/A up to 62,166 european ancestry individuals EFO_0000319 N/A Associate Cholesterol//total rs7412-C of NONHSAT179793.1 is significantly associated with the cholesterol//total by using GWAS analysis in up to 62,166 european ancestry individuals(p-value = 8E-239 ;OR = 0.413). 0.4 The impact of low-frequency and rare variants on lipid levels. NCRV0000000360 28739976 NONHSAT217903.1 rs7826238 T N/A 150,134 european ancestry individuals; 87,359 european ancestry individuals//140,886 european and unknown ancestry individuals EFO_0000319 N/A Associate Systolic blood pressure rs7826238-T of NONHSAT217903.1 is significantly associated with the systolic blood pressure by using GWAS analysis in 150,134 european ancestry individuals; 87,359 european ancestry individuals//140,886 european and unknown ancestry individuals(p-value = 3E-15 ;OR = 0.335). 0.4 Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.LID - HYPERTENSIONAHA.117.09438 [pii]LID - 10.1161/HYPERTENSIONAHA.117.09438 [doi]AB - Elevated blood pressure NCRV0000003679 27126917 NONHSAT001472.2 rs2473317 G N/A 874 european ancestry individuals EFO_0007828 N/A Associate Daytime sleep phenotypes rs2473317-G of NONHSAT001472.2 is significantly associated with the daytime sleep phenotypes by using GWAS analysis in 874 european ancestry individuals(p-value = 3E-6 ;OR = 0.8577). 0.4 Genome-wide association analysis of actigraphic sleep phenotypes in the LIFE Adult Study. NCRV0000002557 22001757 NONHSAT155729.1 rs754466 T N/A up to 52,350 european ancestry individuals//up to 8,739 indian asian ancestry individuals EFO_0001421 N/A Associate Liver enzyme levels (gamma-glutamyl transferase) rs754466-T of NONHSAT155729.1 is significantly associated with the liver enzyme levels (gamma-glutamyl transferase) by using GWAS analysis in up to 52,350 european ancestry individuals//up to 8,739 indian asian ancestry individuals(p-value = 6E-10 ;OR = 3.5). 0.4 Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. NCRV0000002851 27863252 NONHSAT031256.2 rs2255531 A N/A 164,339 european ancestry individuals EFO_0007985 N/A Associate Plateletcrit rs2255531-A of NONHSAT031256.2 is significantly associated with the plateletcrit by using GWAS analysis in 164,339 european ancestry individuals(p-value = 4E-16 ;OR = 0.03117565). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000358 24509480 NONHSAT186947.1 rs243088 T N/A 12,171 european ancestry cases//56,862 european ancestry controls//6,952 east asian ancestry cases//11,865 east asian ancestry controls//5,561 south asian ancestry cases//14,458 south asian ancestry controls//1,804 mexican ancestry cases//779 mexican ancestry controls; 21,491 european ancestry cases//55,647 european ancestry controls EFO_0001360 N/A Associate Type 2 diabetes rs243088-T of NONHSAT186947.1 is significantly associated with the type 2 diabetes by using GWAS analysis in 12,171 european ancestry cases//56,862 european ancestry controls//6,952 east asian ancestry cases//11,865 east asian ancestry controls//5,561 south asian ancestry cases//14,458 south asian ancestry controls//1,804 mexican ancestry cases//779 mexican ancestry controls; 21,491 european ancestry cases//55,647 european ancestry controls(p-value = 3E-6 ;OR = 1.09). 0.4 Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. NCRV0000001847 19483685 NONHSAT207105.1 rs2395029 ? N/A 58 european ancestry cases//282 european ancestry controls EFO_0004228 N/A Associate Drug-induced liver injury (flucloxacillin) rs2395029-? of NONHSAT207105.1 is significantly associated with the drug-induced liver injury (flucloxacillin) by using GWAS analysis in 58 european ancestry cases//282 european ancestry controls(p-value = 9E-33 ;OR = 45.0). 0.4 HLA-B*5701 genotype is a major determinant of drug-induced liver injury due to flucloxacillin. NCRV0000001435 26634245 NONHSAT064139.2 rs1353531 T N/A 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases EFO_0003892 N/A Associate Post bronchodilator fev1 in copd rs1353531-T of NONHSAT064139.2 is significantly associated with the post bronchodilator fev1 in copd by using GWAS analysis in 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases(p-value = 1E-6 ;OR = 0.151). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000003478 23251661 NONHSAT209020.1 rs2296743 A N/A 815 hispanic children from 263 families EFO_0003939 N/A Associate Obesity-related traits rs2296743-A of NONHSAT209020.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 8E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. NCRV0000003815 28443625 NONHSAT036194.2 rs12885454 A N/A 98,173 european ancestry women//64,373 european ancestry men//5,829 european ancestry individuals//10,500 african american/afro-caribbean ancestry women//2,706 african american/afro-caribbean ancestry men//1,030 indian asian ancestry women//7,648 indian asian ancestry men//1,793 filipino ancestry women//2,944 hispanic/latino ancestry women//1,764 hispanic/latino ancestry men; 21,496 european ancestry women//24,385 european ancestry men//118,364 european ancestry individuals//2,326 african american/afro-caribbean ancestry women//855 african american/afro-caribbean ancestry men EFO_0001073 adjusted for smoking behaviour Associate Bmi (adjusted for smoking behaviour) rs12885454-A of NONHSAT036194.2 is significantly associated with the bmi (adjusted for smoking behaviour) by using GWAS analysis in 98,173 european ancestry women//64,373 european ancestry men//5,829 european ancestry individuals//10,500 african american/afro-caribbean ancestry women//2,706 african american/afro-caribbean ancestry men//1,030 indian asian ancestry women//7,648 indian asian ancestry men//1,793 filipino ancestry women//2,944 hispanic/latino ancestry women//1,764 hispanic/latino ancestry men; 21,496 european ancestry women//24,385 european ancestry men//118,364 european ancestry individuals//2,326 african american/afro-caribbean ancestry women//855 african american/afro-caribbean ancestry men(p-value = 1E-6 ;OR = 0.0165). 0.4 Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. NCRV0000001705 25608926 NONHSAT161775.1 rs1860545 A N/A 2,332 european ancestry cases and 5,233 european ancestry controls; 764 european ancestry cases and 2,256 european ancestry controls EFO_0004192 N/A Associate Alopecia areata rs1860545-A of NONHSAT161775.1 is significantly associated with the alopecia areata by using GWAS analysis in 2,332 european ancestry cases and 5,233 european ancestry controls; 764 european ancestry cases and 2,256 european ancestry controls(p-value = 8E-6 ;OR = 1.16661). 0.4 Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci. NCRV0000003257 28334935 NONHSAT215396.1 rs4841132 A N/A 12,586 hispanic/latino individuals EFO_0006334 N/A Associate Iron status biomarkers (total iron binding capacity) rs4841132-A of NONHSAT215396.1 is significantly associated with the iron status biomarkers (total iron binding capacity) by using GWAS analysis in 12,586 hispanic/latino individuals(p-value = 7E-8 ;OR = 0.116). 0.4 Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation? NCRV0000003579 26604143 NONHSAT201188.1 rs13130484 T N/A 34,744 european ancestry children; 11,313 european ancestry children EFO_0001073 N/A Associate Childhood body mass index rs13130484-T of NONHSAT201188.1 is significantly associated with the childhood body mass index by using GWAS analysis in 34,744 european ancestry children; 11,313 european ancestry children(p-value = 2E-23 ;OR = 0.067). 0.4 Genome-wide association analysis identifies three new susceptibility loci for childhood body mass index. NCRV0000003774 22001757 NONHSAT059500.2 rs4503880 T N/A up to 52,350 european ancestry individuals//up to 8,739 indian asian ancestry individuals EFO_0001421 N/A Associate Liver enzyme levels (gamma-glutamyl transferase) rs4503880-T of NONHSAT059500.2 is significantly associated with the liver enzyme levels (gamma-glutamyl transferase) by using GWAS analysis in up to 52,350 european ancestry individuals//up to 8,739 indian asian ancestry individuals(p-value = 3E-12 ;OR = 3.6). 0.4 Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. NCRV0000000834 29083406 NONHSAT165172.1 rs6489785 T N/A 180,129 european ancestry cases//180,709 european ancestry controls EFO_0003785 N/A Associate Allergic disease (asthma//hay fever or eczema) rs6489785-T of NONHSAT165172.1 is significantly associated with the allergic disease (asthma//hay fever or eczema) by using GWAS analysis in 180,129 european ancestry cases//180,709 european ancestry controls(p-value = 2E-15 ;OR = 1.043). 0.4 Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology. NCRV0000001265 29083406 NONHSAT209018.1 rs10947428 C N/A 180,129 european ancestry cases//180,709 european ancestry controls EFO_0003785 N/A Associate Allergic disease (asthma//hay fever or eczema) rs10947428-C of NONHSAT209018.1 is significantly associated with the allergic disease (asthma//hay fever or eczema) by using GWAS analysis in 180,129 european ancestry cases//180,709 european ancestry controls(p-value = 4E-13 ;OR = 1.046). 0.4 Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology. NCRV0000003120 27863252 NONHSAT108771.2 rs2523696 T N/A 171,529 european ancestry individuals EFO_0005192 N/A Associate Red cell distribution width rs2523696-T of NONHSAT108771.2 is significantly associated with the red cell distribution width by using GWAS analysis in 171,529 european ancestry individuals(p-value = 9E-15 ;OR = 0.02759642). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002266 26192919 NONHSAT154192.1 rs10800309 ? N/A 6,968 european ancestry cases//20,464 european ancestry controls; 10,679 european ancestry cases//26,715 european ancestry controls//397 iranian ancestry cases//342 iranian ancestry controls//1,239 indian ancestry cases//990 indian ancestry controls//1,134 east asian ancestry cases//3,719 east asian ancestry controls EFO_0000729 N/A Associate Ulcerative colitis rs10800309-? of NONHSAT154192.1 is significantly associated with the ulcerative colitis by using GWAS analysis in 6,968 european ancestry cases//20,464 european ancestry controls; 10,679 european ancestry cases//26,715 european ancestry controls//397 iranian ancestry cases//342 iranian ancestry controls//1,239 indian ancestry cases//990 indian ancestry controls//1,134 east asian ancestry cases//3,719 east asian ancestry controls(p-value = 4E-25 ;OR = ?). 0.4 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. NCRV0000002301 26586795 NONHSAT178495.1 rs1442089 C N/A up to 462 european ancestry cases; up to 435 european ancestry cases EFO_0005842 N/A Associate Survival in colorectal cancer (distant metastatic) rs1442089-C of NONHSAT178495.1 is significantly associated with the survival in colorectal cancer (distant metastatic) by using GWAS analysis in up to 462 european ancestry cases; up to 435 european ancestry cases(p-value = 2E-6 ;OR = 1.56). 0.4 Common genetic variation and survival after colorectal cancer diagnosis: a genome-wide analysis. NCRV0000002135 22889921 NONHSAT028154.2 rs297941 ? N/A 1,279 european ancestry cases//5,139 european ancestry controls//299 european ancestry trios//93 south african afrikaner ancestry cases//158 south african afrikaner ancestry controls//93 ashkenazi jewish cases//260 ashkenazi jewish controls//101 hispanic and unknown ancestry trios EFO_0004242 N/A Associate Obsessive-compulsive disorder rs297941-? of NONHSAT028154.2 is significantly associated with the obsessive-compulsive disorder by using GWAS analysis in 1,279 european ancestry cases//5,139 european ancestry controls//299 european ancestry trios//93 south african afrikaner ancestry cases//158 south african afrikaner ancestry controls//93 ashkenazi jewish cases//260 ashkenazi jewish controls//101 hispanic and unknown ancestry trios(p-value = 5E-7 ;OR = 1.23). 0.4 Genome-wide association study of obsessive-compulsive disorder. NCRV0000003552 27863252 NONHSAT197523.1 rs6782228 C N/A 170,702 european ancestry individuals EFO_0004833 N/A Associate Neutrophil count rs6782228-C of NONHSAT197523.1 is significantly associated with the neutrophil count by using GWAS analysis in 170,702 european ancestry individuals(p-value = 6E-17 ;OR = 0.03407596). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000783 27622933 NONHSAT215093.1 rs2402960 ? N/A 7,795 european ancestry responder cases//191,173 european ancestry healthy controls EFO_0003761 N/A Associate Response to antidepressants and depression rs2402960-? of NONHSAT215093.1 is significantly associated with the response to antidepressants and depression by using GWAS analysis in 7,795 european ancestry responder cases//191,173 european ancestry healthy controls(p-value = 8E-7 ;OR = 1.098901). 0.4 Analysis of 23andMe antidepressant efficacy survey data: implication of circadian rhythm and neuroplasticity in bupropion response. NCRV0000000703 27082954 NONHSAT002566.2 rs755249 G N/A 104 european ancestry cases//1,519 european ancestry controls//34 african american cases//520 african american controls EFO_0004265 traffic-related air pollution interaction Associate Peripheral arterial disease (traffic-related air pollution interaction) rs755249-G of NONHSAT002566.2 is significantly associated with the peripheral arterial disease (traffic-related air pollution interaction) by using GWAS analysis in 104 european ancestry cases//1,519 european ancestry controls//34 african american cases//520 african american controls(p-value = 2E-8 ;OR = 3.45). 0.4 Genetic Variants in the Bone Morphogenic Protein Gene Family Modify the Association between Residential Exposure to Traffic and Peripheral Arterial Disease. NCRV0000001123 23128233 NONHSAT191834.1 rs2836878 G N/A 12,924 european ancestry cases//21,442 european ancestry controls; 25,683 european ancestry cases//17,015 european ancestry controls EFO_0003767 N/A Associate Inflammatory bowel disease rs2836878-G of NONHSAT191834.1 is significantly associated with the inflammatory bowel disease by using GWAS analysis in 12,924 european ancestry cases//21,442 european ancestry controls; 25,683 european ancestry cases//17,015 european ancestry controls(p-value = 5E-48 ;OR = 1.18). 0.4 Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. NCRV0000000941 28187132 NONHSAT211630.1 rs1008897 G N/A 950 han chinese ancestry individuals//245 european ancestry individuals; 653 east asian ancestry individuals//785 european ancestry individuals EFO_0005140 N/A Associate Serum galactose-deficient iga1 levels rs1008897-G of NONHSAT211630.1 is significantly associated with the serum galactose-deficient iga1 levels by using GWAS analysis in 950 han chinese ancestry individuals//245 european ancestry individuals; 653 east asian ancestry individuals//785 european ancestry individuals(p-value = 5E-8 ;OR = 0.24). 0.4 GWAS for serum galactose-deficient IgA1 implicates critical genes of the O-glycosylation pathway. NCRV0000001588 19734545 NONHSAT183075.1 rs4668356 ? N/A up to 1,295 individuals EFO_0003926 N/A Associate Cognitive performance rs4668356-? of NONHSAT183075.1 is significantly associated with the cognitive performance by using GWAS analysis in up to 1,295 individuals(p-value = 1E-6 ;OR = ?). 0.4 A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB. NCRV0000001178 26634245 NONHSAT153280.1 rs7542813 A N/A 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases EFO_0003892 N/A Associate Post bronchodilator fev1 in copd rs7542813-A of NONHSAT153280.1 is significantly associated with the post bronchodilator fev1 in copd by using GWAS analysis in 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases(p-value = 2E-6 ;OR = 0.971). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000003440 25281659 NONHSAT198353.1 rs1380294 T N/A 28,238 european ancestry individuals EFO_0006785 N/A Associate Infant length rs1380294-T of NONHSAT198353.1 is significantly associated with the infant length by using GWAS analysis in 28,238 european ancestry individuals(p-value = 3E-14 ;OR = 0.108). 0.4 A novel common variant in DCST2 is associated with length in early life and height in adulthood. NCRV0000001209 28644415 NONHSAT153820.1 rs1327609 ? N/A 141 individuals EFO_0008111 N/A Associate Prudent dietary pattern rs1327609-? of NONHSAT153820.1 is significantly associated with the prudent dietary pattern by using GWAS analysis in 141 individuals(p-value = 5E-6 ;OR = ?). 0.4 Genome-Wide Association Study of Dietary Pattern Scores.LID - E649 [pii]LID - 10.3390/nu9070649 [doi]AB - Dietary patterns, representing global food supplies rather than specific nutrients or food intakes, have been associated with cardiovascul NCRV0000000901 18821565 NONHSAT213007.1 rs10227331 ? N/A 930 european ancestry trios GO_0007610 N/A Associate Inattentive symptoms rs10227331-? of NONHSAT213007.1 is significantly associated with the inattentive symptoms by using GWAS analysis in 930 european ancestry trios(p-value = 4E-6 ;OR = ?). 0.4 Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations. NCRV0000000435 27976721 NONHSAT218737.1 rs10100465 G N/A 2,743 chinese ancestry cases//3,573 chinese ancestry controls; 5,413 han chinese ancestry cases//12,037 han chinese ancestry controls EFO_0001054 N/A Associate Leprosy rs10100465-G of NONHSAT218737.1 is significantly associated with the leprosy by using GWAS analysis in 2,743 chinese ancestry cases//3,573 chinese ancestry controls; 5,413 han chinese ancestry cases//12,037 han chinese ancestry controls(p-value = 3E-11 ;OR = 1.1764705). 0.4 A large-scale genome-wide association and meta-analysis identified four novel susceptibility loci for leprosy. NCRV0000000400 25524916 NONHSAT196746.1 rs523079 ? N/A up to 4,176 mexican american individuals EFO_0001360 N/A Associate Glucose homeostasis traits rs523079-? of NONHSAT196746.1 is significantly associated with the glucose homeostasis traits by using GWAS analysis in up to 4,176 mexican american individuals(p-value = 2E-7 ;OR = 0.25). 0.4 Genetic Variants Associated With Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium. NCRV0000002990 21460842 NONHSAT017198.2 rs2280543 G N/A 1,607 japanese ancestry cases//1,428 japanese ancestry controls; 3,439 japanese ancestry cases//3,244 japanese ancestry controls EFO_0000731 N/A Associate Uterine fibroids rs2280543-G of NONHSAT017198.2 is significantly associated with the uterine fibroids by using GWAS analysis in 1,607 japanese ancestry cases//1,428 japanese ancestry controls; 3,439 japanese ancestry cases//3,244 japanese ancestry controls(p-value = 4E-12 ;OR = 1.39). 0.4 A genome-wide association study identifies three loci associated with susceptibility to uterine fibroids. NCRV0000003541 28441456 NONHSAT167992.1 rs140008767 G N/A 2,187 european ancestry individuals EFO_0007841 N/A Associate Facial morphology (factor 18) rs140008767-G of NONHSAT167992.1 is significantly associated with the facial morphology (factor 18) by using GWAS analysis in 2,187 european ancestry individuals(p-value = 4E-7 ;OR = 0.3317). 0.4 Genome-wide association study of facial morphology reveals novel associations with FREM1 and PARK2. NCRV0000001600 26198764 NONHSAT130600.2 rs10967586 G N/A 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls EFO_0000692 N/A Associate Schizophrenia rs10967586-G of NONHSAT130600.2 is significantly associated with the schizophrenia by using GWAS analysis in 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls(p-value = 5E-7 ;OR = 1.0869565). 0.4 Genome-wide association study of schizophrenia in Ashkenazi Jews. NCRV0000000672 19786962 NONHSAT158620.1 rs4751178 G N/A 200 european ancestry cases; 186 european ancestry cases EFO_0004336 N/A Associate Speech perception in dyslexia rs4751178-G of NONHSAT158620.1 is significantly associated with the speech perception in dyslexia by using GWAS analysis in 200 european ancestry cases; 186 european ancestry cases(p-value = 7E-6 ;OR = ?). 0.4 First genome-wide association scan on neurophysiological endophenotypes points to trans-regulation effects on SLC2A3 in dyslexic children. NCRV0000003836 23251661 NONHSAT059073.2 rs9304270 A N/A 815 hispanic children from 263 families EFO_0005187 N/A Associate Obesity-related traits rs9304270-A of NONHSAT059073.2 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 2E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. NCRV0000003567 24743840 NONHSAT165681.1 rs7999699 ? N/A 9,287 european ancestry cases//9,117 european ancestry controls EFO_0005842 diet interaction Associate Colorectal cancer (diet interaction) rs7999699-? of NONHSAT165681.1 is significantly associated with the colorectal cancer (diet interaction) by using GWAS analysis in 9,287 european ancestry cases//9,117 european ancestry controls(p-value = 3E-6 ;OR = 1.32). 0.4 Genome-wide diet-gene interaction analyses for risk of colorectal cancer. NCRV0000001407 26634245 NONHSAT176146.1 rs12185265 C N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs12185265-C of NONHSAT176146.1 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 3E-6 ;OR = 0.01). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000003601 23382691 NONHSAT084503.2 rs16982515 C N/A 2,247 european ancestry individuals EFO_0002690 N/A Associate Igg glycosylation rs16982515-C of NONHSAT084503.2 is significantly associated with the igg glycosylation by using GWAS analysis in 2,247 european ancestry individuals(p-value = 3E-6 ;OR = 0.3117). 0.4 Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. NCRV0000003663 27455349 NONHSAT205027.1 rs12513649 G N/A 3,072 samoan (founder/genetic isolate) individuals; 2,102 samoan (founder/genetic isolate) individuals EFO_0001073 N/A Associate Body mass index rs12513649-G of NONHSAT205027.1 is significantly associated with the body mass index by using GWAS analysis in 3,072 samoan (founder/genetic isolate) individuals; 2,102 samoan (founder/genetic isolate) individuals(p-value = 5E-14 ;OR = 0.041). 0.4 A thrifty variant in CREBRF strongly influences body mass index in Samoans. NCRV0000003518 27863252 NONHSAT151306.1 rs112203773 A N/A 171,542 european ancestry individuals EFO_0007990 N/A Associate Neutrophil percentage of white cells rs112203773-A of NONHSAT151306.1 is significantly associated with the neutrophil percentage of white cells by using GWAS analysis in 171,542 european ancestry individuals(p-value = 4E-9 ;OR = 0.0381765). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002464 24483146 NONHSAT150699.1 rs10495285 ? N/A 60 european ancestry lymphoblastoid cell lines//54 african american lymphoblastoid cell lines//60 han chinese ancestry lymphoblastoid cell lines EFO_0005655 N/A Associate Response to cytadine analogues (cytosine arabinoside) rs10495285-? of NONHSAT150699.1 is significantly associated with the response to cytadine analogues (cytosine arabinoside) by using GWAS analysis in 60 european ancestry lymphoblastoid cell lines//54 african american lymphoblastoid cell lines//60 han chinese ancestry lymphoblastoid cell lines(p-value = 4E-7 ;OR = ?). 0.4 Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines. NCRV0000001882 28112199 NONHSAT185338.1 rs12711846 G N/A 1,842 european ancestry chronic lymphocytic leukemia cases//1,465 european ancestry hodgkin lymphoma cases//3,790 european ancestry multiple myeloma cases//7,324 european ancestry controls EFO_0000095 N/A Associate B-cell malignancies (chronic lymphocytic leukemia//hodgkin lymphoma or multiple myeloma) (pleiotropy) rs12711846-G of NONHSAT185338.1 is significantly associated with the b-cell malignancies (chronic lymphocytic leukemia//hodgkin lymphoma or multiple myeloma) (pleiotropy) by using GWAS analysis in 1,842 european ancestry chronic lymphocytic leukemia cases//1,465 european ancestry hodgkin lymphoma cases//3,790 european ancestry multiple myeloma cases//7,324 european ancestry controls(p-value = 3E-14 ;OR = ?). 0.4 Genome-wide association analysis of chronic lymphocytic leukaemia, Hodgkin lymphoma and multiple myeloma identifies pleiotropic risk loci. NCRV0000003747 28540026 NONHSAT202647.1 rs4391122 ? N/A schizophrenia cases and controls (see ripke//2014)cases//up to 1,190 controls EFO_0000692 N/A Associate Schizophrenia rs4391122-? of NONHSAT202647.1 is significantly associated with the schizophrenia by using GWAS analysis in schizophrenia cases and controls (see ripke//2014)cases//up to 1,190 controls(p-value = 2E-9 ;OR = 1.0638298). 0.4 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. NCRV0000001203 23092984 NONHSAT192163.1 rs1930961 ? N/A 2,196 european and other ancestry cases//8,148 european and other ancestry controls EFO_0000289 N/A Associate Bipolar disorder with mood-incongruent psychosis rs1930961-? of NONHSAT192163.1 is significantly associated with the bipolar disorder with mood-incongruent psychosis by using GWAS analysis in 2,196 european and other ancestry cases//8,148 european and other ancestry controls(p-value = 9E-6 ;OR = 1.39). 0.4 Genome-wide association of mood-incongruent psychotic bipolar disorder. NCRV0000000341 21658281 NONHSAT069162.2 rs6716724 ? N/A 88 european ancestry cases//517 european ancestry controls EFO_0004278 N/A Associate Sudden cardiac arrest rs6716724-? of NONHSAT069162.2 is significantly associated with the sudden cardiac arrest by using GWAS analysis in 88 european ancestry cases//517 european ancestry controls(p-value = 6E-7 ;OR = 1.39). 0.4 GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease. NCRV0000000752 23743675 NONHSAT169371.1 rs7144649 ? N/A 2,322 european ancestry individuals from 118 families//2,593 european ancestry individuals; EFO_0003829 N/A Associate Alcohol consumption rs7144649-? of NONHSAT169371.1 is significantly associated with the alcohol consumption by using GWAS analysis in 2,322 european ancestry individuals from 118 families//2,593 european ancestry individuals; (p-value = 4E-6 ;OR = 0.09). 0.4 A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks. NCRV0000003348 27863252 NONHSAT061038.2 rs10409243 T N/A 170,384 european ancestry individuals EFO_0009390 N/A Associate Sum neutrophil eosinophil counts rs10409243-T of NONHSAT061038.2 is significantly associated with the sum neutrophil eosinophil counts by using GWAS analysis in 170,384 european ancestry individuals(p-value = 5E-9 ;OR = 0.02187366). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001625 27863252 NONHSAT108739.2 rs28749551 C N/A 170,721 european ancestry individuals EFO_0005091 N/A Associate Monocyte count rs28749551-C of NONHSAT108739.2 is significantly associated with the monocyte count by using GWAS analysis in 170,721 european ancestry individuals(p-value = 8E-18 ;OR = 0.03930922). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003102 25056061 NONHSAT141673.2 rs12691307 A N/A 32,405 european ancestry cases//42,221 european ancestry controls//1,235 european ancestry cases and 1,235 european ancestry controls from 1235 parent-offspring trios//1,836 east asian ancestry cases//3,383 east asian ancestry controls; 1,513 european ancestry cases//66,236 european ancestry controls EFO_0000692 N/A Associate Schizophrenia rs12691307-A of NONHSAT141673.2 is significantly associated with the schizophrenia by using GWAS analysis in 32,405 european ancestry cases//42,221 european ancestry controls//1,235 european ancestry cases and 1,235 european ancestry controls from 1235 parent-offspring trios//1,836 east asian ancestry cases//3,383 east asian ancestry controls; 1,513 european ancestry cases//66,236 european ancestry controls(p-value = 5E-11 ;OR = 1.073). 0.4 Biological insights from 108 schizophrenia-associated genetic loci. NCRV0000000083 26634245 NONHSAT169584.1 rs144560641 A N/A 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio in copd rs144560641-A of NONHSAT169584.1 is significantly associated with the post bronchodilator fev1/fvc ratio in copd by using GWAS analysis in 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases(p-value = 2E-6 ;OR = 0.055). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000000124 21627779 NONHSAT218019.1 rs569214 ? N/A 319 european ancestry cases//769 european ancestry controls//2,690 cases//2,237 controls; 4,982 european ancestry cases//7,961 european ancestry controls//2,190 cases//3,374 controls EFO_0000249 N/A Associate Alzheimer's disease rs569214-? of NONHSAT218019.1 is significantly associated with the alzheimer's disease by using GWAS analysis in 319 european ancestry cases//769 european ancestry controls//2,690 cases//2,237 controls; 4,982 european ancestry cases//7,961 european ancestry controls//2,190 cases//3,374 controls(p-value = 4E-8 ;OR = 1.14). 0.4 The membrane-spanning 4-domains, subfamily A (MS4A) gene cluster contains a common variant associated with Alzheimer's disease. NCRV0000002166 28017375 NONHSAT013359.2 rs7085433 ? N/A up to 21,020 european ancestry individuals//up to 3,621 african american individuals//up to 15,062 east asian individuals.; 16,389 individuals of european and african american ancestry. EFO_0004527 N/A Associate Mean corpuscular hemoglobin rs7085433-? of NONHSAT013359.2 is significantly associated with the mean corpuscular hemoglobin by using GWAS analysis in up to 21,020 european ancestry individuals//up to 3,621 african american individuals//up to 15,062 east asian individuals.; 16,389 individuals of european and african american ancestry.(p-value = 3E-8 ;OR = ?). 0.4 Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis. NCRV0000003906 24097068 NONHSAT207180.1 rs2814982 T N/A 94,595 european ancestry individuals; 93,982 european ancestry individuals EFO_0000319 N/A Associate Cholesterol//total rs2814982-T of NONHSAT207180.1 is significantly associated with the cholesterol//total by using GWAS analysis in 94,595 european ancestry individuals; 93,982 european ancestry individuals(p-value = 4E-15 ;OR = 0.044). 0.4 Discovery and refinement of loci associated with lipid levels. NCRV0000000998 19165155 NONHSAT196733.1 rs6773957 A N/A 997 european ancestry cases//989 european ancestry controls EFO_0000319 N/A Associate Adiponectin levels rs6773957-A of NONHSAT196733.1 is significantly associated with the adiponectin levels by using GWAS analysis in 997 european ancestry cases//989 european ancestry controls(p-value = 5E-8 ;OR = ?). 0.4 Genome-wide linkage and association analyses to identify genes influencing adiponectin levels: the GEMS Study. NCRV0000002643 23449627 NONHSAT207103.1 rs7751505 C N/A up to 5,043 european ancestry males//up to 5,756 european ancestry females EFO_0001382 N/A Associate Pubertal anthropometrics rs7751505-C of NONHSAT207103.1 is significantly associated with the pubertal anthropometrics by using GWAS analysis in up to 5,043 european ancestry males//up to 5,756 european ancestry females(p-value = 4E-6 ;OR = 0.07). 0.4 Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity. NCRV0000002300 26634245 NONHSAT210312.1 rs181783266 T N/A 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio in copd rs181783266-T of NONHSAT210312.1 is significantly associated with the post bronchodilator fev1/fvc ratio in copd by using GWAS analysis in 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases(p-value = 9E-7 ;OR = 0.207). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000002860 28598419 NONHSAT214786.1 rs1558001 T N/A 698 african american preterm birth mothers//1,035 african american term birth mothers EFO_0005112 N/A Associate Gestational age at birth (maternal effect) rs1558001-T of NONHSAT214786.1 is significantly associated with the gestational age at birth (maternal effect) by using GWAS analysis in 698 african american preterm birth mothers//1,035 african american term birth mothers(p-value = 1E-7 ;OR = 0.81). 0.4 Genome-wide approach identifies a novel gene-maternal pre-pregnancy BMI interaction on preterm birth. NCRV0000003230 25241909 NONHSAT198812.1 rs2869966 T N/A 3,777 european ancestry cases//3,520 european ancestry smoker controls EFO_0000341 N/A Associate Chronic obstructive pulmonary disease rs2869966-T of NONHSAT198812.1 is significantly associated with the chronic obstructive pulmonary disease by using GWAS analysis in 3,777 european ancestry cases//3,520 european ancestry smoker controls(p-value = 7E-10 ;OR = 1.29). 0.4 Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease. NCRV0000003464 29077507 NONHSAT187338.1 rs35520189 C N/A 677 african american women//544 african american men//115 asian women//113 asian men//1,825 european ancestry women//3,902 european ancestry men// 7,492 hispanic women//5,065 hispanic men EFO_0003918 N/A Associate Obstructive sleep apnea trait (apnea hypopnea index) rs35520189-C of NONHSAT187338.1 is significantly associated with the obstructive sleep apnea trait (apnea hypopnea index) by using GWAS analysis in 677 african american women//544 african american men//115 asian women//113 asian men//1,825 european ancestry women//3,902 european ancestry men// 7,492 hispanic women//5,065 hispanic men(p-value = 6E-6 ;OR = 0.064). 0.4 Multiethnic Meta-Analysis Identifies RAI1 as a Possible Obstructive Sleep Apnea-related Quantitative Trait Locus in Men. NCRV0000001712 28060188 NONHSAT205819.1 rs13166103 ? N/A 2,307 celtic ancestry individuals//1,102 slavic ancestry individuals EFO_0001360 N/A Associate Type 2 diabetes (age of onset) rs13166103-? of NONHSAT205819.1 is significantly associated with the type 2 diabetes (age of onset) by using GWAS analysis in 2,307 celtic ancestry individuals//1,102 slavic ancestry individuals(p-value = 4E-6 ;OR = ?). 0.4 PROX1 gene CC genotype as a major determinant of early onset of type 2 diabetes in slavic study participants from Action in Diabetes and Vascular Disease: Preterax and Diamicron MR Controlled Evaluation study. NCRV0000002617 27286809 NONHSAT149348.1 rs469772 T N/A 65,000 individuals (c-reactive protein)//100,184 individuals (total cholesterol) EFO_0000195 N/A Associate C-reactive protein levels or total cholesterol levels (pleiotropy) rs469772-T of NONHSAT149348.1 is significantly associated with the c-reactive protein levels or total cholesterol levels (pleiotropy) by using GWAS analysis in 65,000 individuals (c-reactive protein)//100,184 individuals (total cholesterol)(p-value = 2E-8 ;OR = ?). 0.4 Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation. NCRV0000000019 26965164 NONHSAT006319.2 rs12045807 C N/A 592 european ancestry cases//2,676 european ancestry controls; 367 european ancestry cases//5,159 european ancestry controls EFO_0005938 N/A Associate Congenital left-sided heart lesions rs12045807-C of NONHSAT006319.2 is significantly associated with the congenital left-sided heart lesions by using GWAS analysis in 592 european ancestry cases//2,676 european ancestry controls; 367 european ancestry cases//5,159 european ancestry controls(p-value = 9E-7 ;OR = 1.61). 0.4 A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20. NCRV0000001202 29059683 NONHSAT159884.1 rs11822830 G N/A 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls EFO_0000305 N/A Associate Breast cancer rs11822830-G of NONHSAT159884.1 is significantly associated with the breast cancer by using GWAS analysis in 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls(p-value = 2E-14 ;OR = 0.0483). 0.4 Association analysis identifies 65 new breast cancer risk loci. NCRV0000003559 28017375 NONHSAT206981.1 rs198846 ? N/A up to 40,258 european ancestry individuals//16,128 african american individuals//up to 15,252 east asian ancestry individuals.; 16,389 european and african american individuals EFO_0004509 N/A Associate Hemoglobin levels rs198846-? of NONHSAT206981.1 is significantly associated with the hemoglobin levels by using GWAS analysis in up to 40,258 european ancestry individuals//16,128 african american individuals//up to 15,252 east asian ancestry individuals.; 16,389 european and african american individuals(p-value = 1E-8 ;OR = ?). 0.4 Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis. NCRV0000003132 20167578 NONHSAT152520.1 rs6136 T N/A up to 9,813 european ancestry individuals HP_0001658 N/A Associate Soluble levels of adhesion molecules rs6136-T of NONHSAT152520.1 is significantly associated with the soluble levels of adhesion molecules by using GWAS analysis in up to 9,813 european ancestry individuals(p-value = 4E-61 ;OR = 22.6). 0.4 Large-scale genomic studies reveal central role of ABO in sP-selectin and sICAM-1 levels. NCRV0000002367 27015805 NONHSAT201047.1 rs113082832 ? N/A 45,627 middle-aged british individuals EFO_0007796 N/A Associate Parental longevity (combined parental age at death) rs113082832-? of NONHSAT201047.1 is significantly associated with the parental longevity (combined parental age at death) by using GWAS analysis in 45,627 middle-aged british individuals(p-value = 5E-6 ;OR = 0.074566). 0.4 Human longevity is influenced by many genetic variants: evidence from 75,000 UK Biobank participants. NCRV0000003315 26830138 NONHSAT212859.1 rs116932763 A N/A 2,478 european ancestry cases//979 ancestry controls both from the same 1,070 families EFO_0000249 N/A Associate Alzheimer disease and age of onset rs116932763-A of NONHSAT212859.1 is significantly associated with the alzheimer disease and age of onset by using GWAS analysis in 2,478 european ancestry cases//979 ancestry controls both from the same 1,070 families(p-value = 2E-7 ;OR = 5.171). 0.4 Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3. NCRV0000001753 28054174 NONHSAT129368.2 rs4246129 ? N/A 272 asian ancestry case-parent trios//161 asian ancestry controls//38 european ancestry cases//296 european ancestry case-parent trios//835 european ancestry controls//40 latino or african cases//34 latino or african case-parent trios//704 latino or african controls//14 case-parent trios. HP_0000175 N/A Associate Cleft palate rs4246129-? of NONHSAT129368.2 is significantly associated with the cleft palate by using GWAS analysis in 272 asian ancestry case-parent trios//161 asian ancestry controls//38 european ancestry cases//296 european ancestry case-parent trios//835 european ancestry controls//40 latino or african cases//34 latino or african case-parent trios//704 latino or african controls//14 case-parent trios.(p-value = 5E-6 ;OR = 2.0). 0.4 Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate. NCRV0000003895 26969751 NONHSAT158576.1 rs7897969 ? N/A 5,008 european ancestry prepubescent females//5,082 european ancestry prepubescent males//4,238 european ancestry pubescent females//4,185 european ancestry pubescent males//2,680 european ancestry post-pubescent females//2,496 european ancestry post-pubescent males EFO_0006336 N/A Associate Diastolic blood pressure rs7897969-? of NONHSAT158576.1 is significantly associated with the diastolic blood pressure by using GWAS analysis in 5,008 european ancestry prepubescent females//5,082 european ancestry prepubescent males//4,238 european ancestry pubescent females//4,185 european ancestry pubescent males//2,680 european ancestry post-pubescent females//2,496 european ancestry post-pubescent males(p-value = 5E-7 ;OR = 0.749). 0.4 International Genome-Wide Association Study Consortium Identifies Novel Loci Associated With Blood Pressure in Children and Adolescents. NCRV0000003865 28654678 NONHSAT166454.1 rs314879 ? N/A 389 east asian ancestry individuals//189 south asian ancestry individuals//492 european ancestry individuals//467 sub-saharan african ancestry individuals//59 african american individuals//157 hispanic/latino individuals EFO_0000769 N/A Associate Epstein-barr virus copy number in lymphoblastoid cell lines rs314879-? of NONHSAT166454.1 is significantly associated with the epstein-barr virus copy number in lymphoblastoid cell lines by using GWAS analysis in 389 east asian ancestry individuals//189 south asian ancestry individuals//492 european ancestry individuals//467 sub-saharan african ancestry individuals//59 african american individuals//157 hispanic/latino individuals(p-value = 5E-7 ;OR = ?). 0.4 Genetic factors affecting EBV copy number in lymphoblastoid cell lines derived from the 1000 Genome Project samples. NCRV0000000812 28604730 NONHSAT206787.1 rs654351 G N/A 7,426 european ancestry cases//55,627 european ancestry controls EFO_0000708 N/A Associate Squamous cell lung carcinoma rs654351-G of NONHSAT206787.1 is significantly associated with the squamous cell lung carcinoma by using GWAS analysis in 7,426 european ancestry cases//55,627 european ancestry controls(p-value = 2E-6 ;OR = 1.101157). 0.4 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. NCRV0000003602 26584805 NONHSAT060409.2 rs2074552 T N/A 717 singaporean chinese ancestry myocardial infarction cases//644 singaporean chinese ancestry controls EFO_0000319 N/A Associate Plasma omega-6 polyunsaturated fatty acid levels (gamma-linolenic acid) rs2074552-T of NONHSAT060409.2 is significantly associated with the plasma omega-6 polyunsaturated fatty acid levels (gamma-linolenic acid) by using GWAS analysis in 717 singaporean chinese ancestry myocardial infarction cases//644 singaporean chinese ancestry controls(p-value = 2E-6 ;OR = 0.1056). 0.4 A genome-wide association study of n-3 and n-6 plasma fatty acids in a Singaporean Chinese population. NCRV0000002757 24816252 NONHSAT095768.2 rs3099557 A N/A 7,824 european ancestry individuals EFO_0005664 N/A Associate Blood metabolite levels rs3099557-A of NONHSAT095768.2 is significantly associated with the blood metabolite levels by using GWAS analysis in 7,824 european ancestry individuals(p-value = 2E-39 ;OR = 0.148). 0.4 An atlas of genetic influences on human blood metabolites. NCRV0000000525 26634245 NONHSAT047599.2 rs4887087 T N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1 rs4887087-T of NONHSAT047599.2 is significantly associated with the post bronchodilator fev1 by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 2E-8 ;OR = 0.066). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000000862 26390057 NONHSAT159899.1 rs11222084 A N/A 31,516 east asian ancestry individuals// 35,352 european ancestry individuals//33,126 south asian ancestry individuals; 87,205 individuals//48,268 east asian ancestry individuals//68,456 european ancestry individuals and 16,328 south asian ancestry individuals EFO_0005763 N/A Associate Pulse pressure rs11222084-A of NONHSAT159899.1 is significantly associated with the pulse pressure by using GWAS analysis in 31,516 east asian ancestry individuals// 35,352 european ancestry individuals//33,126 south asian ancestry individuals; 87,205 individuals//48,268 east asian ancestry individuals//68,456 european ancestry individuals and 16,328 south asian ancestry individuals(p-value = 4E-6 ;OR = 0.4993). 0.4 Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation. NCRV0000001730 26198764 NONHSAT166533.1 rs11616416 A N/A 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls EFO_0000692 N/A Associate Schizophrenia rs11616416-A of NONHSAT166533.1 is significantly associated with the schizophrenia by using GWAS analysis in 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls(p-value = 7E-6 ;OR = 1.06). 0.4 Genome-wide association study of schizophrenia in Ashkenazi Jews. NCRV0000002094 25282103 NONHSAT210897.1 rs314263 T N/A 253,288 european ancestry individuals; 80,067 european ancestry individuals EFO_0004339 N/A Associate Height rs314263-T of NONHSAT210897.1 is significantly associated with the height by using GWAS analysis in 253,288 european ancestry individuals; 80,067 european ancestry individuals(p-value = 1E-42 ;OR = 0.043). 0.4 Defining the role of common variation in the genomic and biological architecture of adult human height. NCRV0000000161 26584805 NONHSAT106762.2 rs316338 G N/A 717 singaporean chinese ancestry myocardial infarction cases//644 singaporean chinese ancestry controls EFO_0000319 N/A Associate Plasma omega-6 polyunsaturated fatty acid levels (gamma-linolenic acid) rs316338-G of NONHSAT106762.2 is significantly associated with the plasma omega-6 polyunsaturated fatty acid levels (gamma-linolenic acid) by using GWAS analysis in 717 singaporean chinese ancestry myocardial infarction cases//644 singaporean chinese ancestry controls(p-value = 7E-6 ;OR = 0.1076). 0.4 A genome-wide association study of n-3 and n-6 plasma fatty acids in a Singaporean Chinese population. NCRV0000000384 21983787 NONHSAT192354.1 rs6001027 ? N/A 2,804 european ancestry cases//7,618 european ancestry controls; 5,551 european ancestry cases//7,449 european ancestry controls EFO_0000756 N/A Associate Melanoma rs6001027-? of NONHSAT192354.1 is significantly associated with the melanoma by using GWAS analysis in 2,804 european ancestry cases//7,618 european ancestry controls; 5,551 european ancestry cases//7,449 european ancestry controls(p-value = 2E-6 ;OR = 1.18). 0.4 Genome-wide association study identifies three new melanoma susceptibility loci. NCRV0000002613 26053186 NONHSAT185197.1 rs60866311 ? N/A 361 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//440 european ancestry current smoker individuals//452 latino current smoker individuals//702 japanese ancestry current smoker individuals EFO_0001071 in smokers Associate 3-hydroxy-1-methylpropylmercapturic acid levels in smokers rs60866311-? of NONHSAT185197.1 is significantly associated with the 3-hydroxy-1-methylpropylmercapturic acid levels in smokers by using GWAS analysis in 361 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//440 european ancestry current smoker individuals//452 latino current smoker individuals//702 japanese ancestry current smoker individuals(p-value = 9E-7 ;OR = 0.7469). 0.4 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. NCRV0000001005 27863252 NONHSAT108210.2 rs1799945 G N/A 172,925 european ancestry individuals EFO_0004509 N/A Associate Hemoglobin concentration rs1799945-G of NONHSAT108210.2 is significantly associated with the hemoglobin concentration by using GWAS analysis in 172,925 european ancestry individuals(p-value = 2E-103 ;OR = 0.1067434). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001297 22952603 NONHSAT151213.1 rs12123383 ? N/A 1 american indian ancestry individual//18 african american individuals//10 asian ancestry individuals//325 european ancestry individuals//17 hispanic individuals//10 individuals GO_0042493 N/A Associate Response to amphetamines rs12123383-? of NONHSAT151213.1 is significantly associated with the response to amphetamines by using GWAS analysis in 1 american indian ancestry individual//18 african american individuals//10 asian ancestry individuals//325 european ancestry individuals//17 hispanic individuals//10 individuals(p-value = 4E-6 ;OR = ?). 0.4 Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13). NCRV0000003125 27863252 NONHSAT145456.2 rs377079849 C N/A 169,822 european ancestry individuals EFO_0007987 N/A Associate Granulocyte count rs377079849-C of NONHSAT145456.2 is significantly associated with the granulocyte count by using GWAS analysis in 169,822 european ancestry individuals(p-value = 2E-9 ;OR = 0.02318978). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001220 27863252 NONHSAT145456.2 rs377079849 C N/A 169,219 european ancestry individuals EFO_0007988 N/A Associate Myeloid white cell count rs377079849-C of NONHSAT145456.2 is significantly associated with the myeloid white cell count by using GWAS analysis in 169,219 european ancestry individuals(p-value = 3E-9 ;OR = 0.02311696). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002901 23969696 NONHSAT129677.2 rs7464572 C N/A 91,323 european ancestry individuals; 8,423 african american individuals//1,447 hispanic individuals EFO_0004623 N/A Associate Fibrinogen rs7464572-C of NONHSAT129677.2 is significantly associated with the fibrinogen by using GWAS analysis in 91,323 european ancestry individuals; 8,423 african american individuals//1,447 hispanic individuals(p-value = 1E-9 ;OR = 0.007). 0.4 Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease. NCRV0000001737 25961943 NONHSAT152916.1 rs340839 A N/A up to 62,166 european ancestry individuals EFO_0000319 N/A Associate Triglycerides rs340839-A of NONHSAT152916.1 is significantly associated with the triglycerides by using GWAS analysis in up to 62,166 european ancestry individuals(p-value = 4E-10 ;OR = 0.039). 0.4 The impact of low-frequency and rare variants on lipid levels. NCRV0000002321 17554300 NONHSAT157830.1 rs6601764 C N/A 1,748 european ancestry cases//2,938 european ancestry controls; (see parkes 2007) EFO_0000384 N/A Associate Crohn's disease rs6601764-C of NONHSAT157830.1 is significantly associated with the crohn's disease by using GWAS analysis in 1,748 european ancestry cases//2,938 european ancestry controls; (see parkes 2007)(p-value = 9E-6 ;OR = 1.16). 0.4 Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. NCRV0000002299 27494321 NONHSAT185367.1 rs62158211 T N/A 127,573 british individuals; 47,180 individuals EFO_0008568 N/A Associate Sleep duration (oversleepers vs undersleepers) rs62158211-T of NONHSAT185367.1 is significantly associated with the sleep duration (oversleepers vs undersleepers) by using GWAS analysis in 127,573 british individuals; 47,180 individuals(p-value = 1E-7 ;OR = 1.0638298). 0.4 Genome-Wide Association Analyses in 128,266 Individuals Identifies New Morningness and Sleep Duration Loci. NCRV0000001854 29083406 NONHSAT161546.1 rs12365699 G N/A 180,129 european ancestry cases//180,709 european ancestry controls EFO_0003785 N/A Associate Allergic disease (asthma//hay fever or eczema) rs12365699-G of NONHSAT161546.1 is significantly associated with the allergic disease (asthma//hay fever or eczema) by using GWAS analysis in 180,129 european ancestry cases//180,709 european ancestry controls(p-value = 5E-18 ;OR = 1.061). 0.4 Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology. NCRV0000002642 28067908 NONHSAT183947.1 rs76527535 ? N/A 12,194 european and unknown ancestry cases//28,072 european and unknown ancestry controls EFO_0000384 N/A Associate Crohn's disease rs76527535-? of NONHSAT183947.1 is significantly associated with the crohn's disease by using GWAS analysis in 12,194 european and unknown ancestry cases//28,072 european and unknown ancestry controls(p-value = 5E-6 ;OR = ?). 0.4 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. NCRV0000000710 25133637 NONHSAT168677.1 rs12882679 G N/A 953 bangladeshi ancestry underweight females//1,269 bangladeshi ancestry normal weight females//1,146 bangladeshi ancestry underweight males//1,106 normal weight males EFO_0005936 N/A Associate Underweight status rs12882679-G of NONHSAT168677.1 is significantly associated with the underweight status by using GWAS analysis in 953 bangladeshi ancestry underweight females//1,269 bangladeshi ancestry normal weight females//1,146 bangladeshi ancestry underweight males//1,106 normal weight males(p-value = 1E-6 ;OR = 0.057). 0.4 Genome-wide association studies and heritability estimates of body mass index related phenotypes in Bangladeshi adults. NCRV0000000312 28240269 NONHSAT202532.1 rs13157656 C N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008093 N/A Associate Blood protein levels rs13157656-C of NONHSAT202532.1 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 1E-16 ;OR = 0.4008). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. NCRV0000001235 27399966 NONHSAT115190.2 rs2230926 ? N/A 1,659 chinese ancestry cases//3,398 chinese ancestry controls//4,036 european ancestry cases//6,959 european ancestry controls; 3,043 chinese ancestry cases//5,074 chinese ancestry controls//2,643 european ancestry cases//9,032 european ancestry controls EFO_0002690 N/A Associate Systemic lupus erythematosus rs2230926-? of NONHSAT115190.2 is significantly associated with the systemic lupus erythematosus by using GWAS analysis in 1,659 chinese ancestry cases//3,398 chinese ancestry controls//4,036 european ancestry cases//6,959 european ancestry controls; 3,043 chinese ancestry cases//5,074 chinese ancestry controls//2,643 european ancestry cases//9,032 european ancestry controls(p-value = 1E-12 ;OR = 2.03). 0.4 Genome-wide association meta-analysis in Chinese and European individuals identifies ten new loci associated with systemic lupus erythematosus. NCRV0000000174 28540026 NONHSAT108925.2 rs9274390 T N/A schizophrenia cases and controls (see ripke//2014)cases//up to 1,190 controls EFO_0000692 N/A Associate Schizophrenia rs9274390-T of NONHSAT108925.2 is significantly associated with the schizophrenia by using GWAS analysis in schizophrenia cases and controls (see ripke//2014)cases//up to 1,190 controls(p-value = 2E-14 ;OR = 1.13). 0.4 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. NCRV0000001456 26192919 NONHSAT206588.1 rs7773324 A N/A 12,882 european ancestry cases//21,770 european ancestry controls; 25,273 european ancestry cases//26,715 european ancestry controls//548 iranian ancestry cases//342 iranian ancestry control//1,423 indian ancestry cases//990 indian ancestry controls//2,824 east asian ancestry cases//3,719 east asian ancestry controls EFO_0003767 N/A Associate Inflammatory bowel disease rs7773324-A of NONHSAT206588.1 is significantly associated with the inflammatory bowel disease by using GWAS analysis in 12,882 european ancestry cases//21,770 european ancestry controls; 25,273 european ancestry cases//26,715 european ancestry controls//548 iranian ancestry cases//342 iranian ancestry control//1,423 indian ancestry cases//990 indian ancestry controls//2,824 east asian ancestry cases//3,719 east asian ancestry controls(p-value = 6E-9 ;OR = 1.0637687). 0.4 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. NCRV0000003630 24528284 NONHSAT087030.2 rs1065852 ? N/A 300 european ancestry escitalpram treated individuals//130 european ancestry citalopram treated individuals EFO_0003761 serotonin reuptake inhibitors Associate Response to serotonin reuptake inhibitors in major depressive disorder (plasma drug and metabolite levels) rs1065852-? of NONHSAT087030.2 is significantly associated with the response to serotonin reuptake inhibitors in major depressive disorder (plasma drug and metabolite levels) by using GWAS analysis in 300 european ancestry escitalpram treated individuals//130 european ancestry citalopram treated individuals(p-value = 2E-16 ;OR = ?). 0.4 Citalopram and escitalopram plasma drug and metabolite concentrations: genome-wide associations. NCRV0000001337 22286219 NONHSAT179793.1 rs7412 ? N/A 8,330 european ancestry individuals EFO_0004529 N/A Associate Lipid metabolism phenotypes rs7412-? of NONHSAT179793.1 is significantly associated with the lipid metabolism phenotypes by using GWAS analysis in 8,330 european ancestry individuals(p-value = 3E-58 ;OR = 0.75). 0.4 Genome-wide association study identifies multiple loci influencing human serum metabolite levels. NCRV0000000047 27863252 NONHSAT183670.1 rs35669853 A N/A 170,494 european ancestry individuals EFO_0007989 N/A Associate Monocyte percentage of white cells rs35669853-A of NONHSAT183670.1 is significantly associated with the monocyte percentage of white cells by using GWAS analysis in 170,494 european ancestry individuals(p-value = 4E-9 ;OR = 0.02665776). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000233 22359512 NONHSAT188483.1 rs680379 ? N/A 4,034 european ancestry individuals EFO_0000677 N/A Associate Sphingolipid levels rs680379-? of NONHSAT188483.1 is significantly associated with the sphingolipid levels by using GWAS analysis in 4,034 european ancestry individuals(p-value = 2E-16 ;OR = 0.0). 0.4 Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations. NCRV0000002884 26394269 NONHSAT203488.1 rs2546890 A N/A 2,764 european ancestry cases//10,475 european ancestry controls; 3,716 european ancestry cases// 4,261 european ancestry controls EFO_1001486 N/A Associate Primary biliary cholangitis rs2546890-A of NONHSAT203488.1 is significantly associated with the primary biliary cholangitis by using GWAS analysis in 2,764 european ancestry cases//10,475 european ancestry controls; 3,716 european ancestry cases// 4,261 european ancestry controls(p-value = 1E-10 ;OR = 1.1494253). 0.4 International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways. NCRV0000003776 23382691 NONHSAT199797.1 rs11942476 C N/A 2,247 european ancestry individuals EFO_0002690 N/A Associate Igg glycosylation rs11942476-C of NONHSAT199797.1 is significantly associated with the igg glycosylation by using GWAS analysis in 2,247 european ancestry individuals(p-value = 6E-6 ;OR = 0.2144). 0.4 Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. NCRV0000003420 24952745 NONHSAT081876.2 rs1805128 T N/A up to 70,389 european ancestry individuals//up to 672 orcadian individuals; up to 33,316 european ancestry individuals EFO_0004278 N/A Associate Qt interval rs1805128-T of NONHSAT081876.2 is significantly associated with the qt interval by using GWAS analysis in up to 70,389 european ancestry individuals//up to 672 orcadian individuals; up to 33,316 european ancestry individuals(p-value = 2E-18 ;OR = 7.42). 0.4 Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. NCRV0000002893 23648065 NONHSAT181389.1 rs4666360 C N/A 218 japanese ancestry cases//364 japanese controls DOID_1227 paclitaxel Associate Adverse response to chemotherapy (neutropenia/leucopenia) rs4666360-C of NONHSAT181389.1 is significantly associated with the adverse response to chemotherapy (neutropenia/leucopenia) by using GWAS analysis in 218 japanese ancestry cases//364 japanese controls(p-value = 3E-6 ;OR = 2.136). 0.4 Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan. NCRV0000001491 24390342 NONHSAT002470.2 rs28411352 T N/A up to 14,361 european ancestry cases//up to 42,923 european ancestry controls//up to 4,873 east asian ancestry cases//up to 17,642 east asian ancestry controls; up to 3,775 european ancestry cases//up to 5,801 european ancestry controls//up to 6,871 east asian ancestry cases//up to 6,392 east asian ancestry controls EFO_0000685 N/A Associate Rheumatoid arthritis rs28411352-T of NONHSAT002470.2 is significantly associated with the rheumatoid arthritis by using GWAS analysis in up to 14,361 european ancestry cases//up to 42,923 european ancestry controls//up to 4,873 east asian ancestry cases//up to 17,642 east asian ancestry controls; up to 3,775 european ancestry cases//up to 5,801 european ancestry controls//up to 6,871 east asian ancestry cases//up to 6,392 east asian ancestry controls(p-value = 3E-12 ;OR = 1.11). 0.4 Genetics of rheumatoid arthritis contributes to biology and drug discovery. NCRV0000001949 22675492 NONHSAT178648.1 rs17056274 G N/A 1,583 european ancestry female individuals EFO_0004697 N/A Associate Estradiol levels rs17056274-G of NONHSAT178648.1 is significantly associated with the estradiol levels by using GWAS analysis in 1,583 european ancestry female individuals(p-value = 4E-6 ;OR = 0.658). 0.4 Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women. NCRV0000003788 27989323 NONHSAT061484.2 rs144075571 G N/A 3,421 finnish ancestry individuals EFO_0005140 N/A Associate Rantes levels rs144075571-G of NONHSAT061484.2 is significantly associated with the rantes levels by using GWAS analysis in 3,421 finnish ancestry individuals(p-value = 4E-6 ;OR = 0.3831). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. NCRV0000002866 26031901 NONHSAT037609.2 rs917063 ? N/A 160 european and other ancestry zileuton-treated cases//144 european and other ancestry placebo-controlled cases; 149 european and other ancestry zileuton-treated cases//73 european and other ancestry placebo-controlled cases EFO_0005921 N/A Associate Response to zileuton treatment in asthma (fev1 change interaction) rs917063-? of NONHSAT037609.2 is significantly associated with the response to zileuton treatment in asthma (fev1 change interaction) by using GWAS analysis in 160 european and other ancestry zileuton-treated cases//144 european and other ancestry placebo-controlled cases; 149 european and other ancestry zileuton-treated cases//73 european and other ancestry placebo-controlled cases(p-value = 1E-6 ;OR = 0.34). 0.4 Genome-wide association study of leukotriene modifier response in asthma. NCRV0000002935 25648963 NONHSAT188523.1 rs6046393 T N/A up to 27,337 european ancestry individuals//up to 472 korkulan individuals//up to 1,267 erasmus rucphen family individuals; up to 10,617 european ancestry individuals//up to 3,811 african american individuals EFO_0006805 N/A Associate Verbal declarative memory rs6046393-T of NONHSAT188523.1 is significantly associated with the verbal declarative memory by using GWAS analysis in up to 27,337 european ancestry individuals//up to 472 korkulan individuals//up to 1,267 erasmus rucphen family individuals; up to 10,617 european ancestry individuals//up to 3,811 african american individuals(p-value = 2E-6 ;OR = 0.2954). 0.4 Genome-wide studies of verbal declarative memory in nondemented older people: the Cohorts for Heart and Aging Research in Genomic Epidemiology consortium. NCRV0000000555 27863252 NONHSAT010798.2 rs3811444 T N/A 164,454 european ancestry individuals EFO_0004584 N/A Associate Mean platelet volume rs3811444-T of NONHSAT010798.2 is significantly associated with the mean platelet volume by using GWAS analysis in 164,454 european ancestry individuals(p-value = 2E-62 ;OR = 0.06369665). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001642 27863252 NONHSAT182126.1 rs57339844 G N/A 164,454 european ancestry individuals EFO_0004584 N/A Associate Mean platelet volume rs57339844-G of NONHSAT182126.1 is significantly associated with the mean platelet volume by using GWAS analysis in 164,454 european ancestry individuals(p-value = 4E-9 ;OR = 0.02152956). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003750 27989323 NONHSAT195709.1 rs11720094 G N/A 8,293 finnish ancestry individuals EFO_0005140 N/A Associate Monocyte chemoattractant protein-1 levels rs11720094-G of NONHSAT195709.1 is significantly associated with the monocyte chemoattractant protein-1 levels by using GWAS analysis in 8,293 finnish ancestry individuals(p-value = 2E-11 ;OR = 0.1058). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. NCRV0000003051 27863252 NONHSAT190541.1 rs558916355 T N/A 164,433 european ancestry individuals EFO_0007984 N/A Associate Platelet distribution width rs558916355-T of NONHSAT190541.1 is significantly associated with the platelet distribution width by using GWAS analysis in 164,433 european ancestry individuals(p-value = 3E-61 ;OR = 0.4589503). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000592 25378659 NONHSAT187422.1 rs12623976 A N/A 10,129 european ancestry individuals EFO_0006796 N/A Associate Very long-chain saturated fatty acid levels (fatty acid 22:0) rs12623976-A of NONHSAT187422.1 is significantly associated with the very long-chain saturated fatty acid levels (fatty acid 22:0) by using GWAS analysis in 10,129 european ancestry individuals(p-value = 8E-6 ;OR = 4.469). 0.4 Genetic loci associated with circulating levels of very long-chain saturated fatty acids. NCRV0000002722 28598419 NONHSAT214786.1 rs1558001 T N/A 461 african american spontaneous preterm birth mothers//1,035 african american term birth mothers EFO_0006917 N/A Associate Spontaneous preterm birth (maternal effect) rs1558001-T of NONHSAT214786.1 is significantly associated with the spontaneous preterm birth (maternal effect) by using GWAS analysis in 461 african american spontaneous preterm birth mothers//1,035 african american term birth mothers(p-value = 3E-8 ;OR = 1.7). 0.4 Genome-wide approach identifies a novel gene-maternal pre-pregnancy BMI interaction on preterm birth. NCRV0000001275 28604730 NONHSAT067101.2 rs681343 T N/A 11,273 european ancestry cases// 55,483 european ancestry controls EFO_0000571 N/A Associate Lung adenocarcinoma rs681343-T of NONHSAT067101.2 is significantly associated with the lung adenocarcinoma by using GWAS analysis in 11,273 european ancestry cases// 55,483 european ancestry controls(p-value = 5E-6 ;OR = 1.0764673). 0.4 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. NCRV0000002291 25188341 NONHSAT171318.1 rs28479400 G N/A up to 4,232 individuals EFO_0006798 N/A Associate Neuritic plaque rs28479400-G of NONHSAT171318.1 is significantly associated with the neuritic plaque by using GWAS analysis in up to 4,232 individuals(p-value = 2E-6 ;OR = 0.7864). 0.4 Genome-wide association meta-analysis of neuropathologic features of Alzheimer's disease and related dementias. NCRV0000000628 24927181 NONHSAT204996.1 rs13153995 C N/A 1,893 european ancestry cases//5,132 european ancestry controls; 2,063 european ancestry cases//1,970 european ancestry controls EFO_0003894 N/A Associate Acne (severe) rs13153995-C of NONHSAT204996.1 is significantly associated with the acne (severe) by using GWAS analysis in 1,893 european ancestry cases//5,132 european ancestry controls; 2,063 european ancestry cases//1,970 european ancestry controls(p-value = 3E-6 ;OR = 1.22). 0.4 Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. NCRV0000000558 27863252 NONHSAT220313.1 rs605642 A N/A 172,275 european ancestry individuals EFO_0004842 N/A Associate Eosinophil counts rs605642-A of NONHSAT220313.1 is significantly associated with the eosinophil counts by using GWAS analysis in 172,275 european ancestry individuals(p-value = 2E-13 ;OR = 0.02687869). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001776 28054174 NONHSAT154533.1 rs1109430 ? N/A 83 asian ancestry cases//1,445 asian ancestry case-parent trios//161 asian ancestry controls//208 european ancestry cases//1,284 european ancestry case-parent trios//835 european ancestry controls//610 latino or african cases//663 latino or african case-parent trios//704 latino or african controls//35 case-parent trios. MONDO_0000358 N/A Associate Orofacial clefts rs1109430-? of NONHSAT154533.1 is significantly associated with the orofacial clefts by using GWAS analysis in 83 asian ancestry cases//1,445 asian ancestry case-parent trios//161 asian ancestry controls//208 european ancestry cases//1,284 european ancestry case-parent trios//835 european ancestry controls//610 latino or african cases//663 latino or african case-parent trios//704 latino or african controls//35 case-parent trios.(p-value = 1E-21 ;OR = 1.82). 0.4 Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate. NCRV0000002154 28017375 NONHSAT206981.1 rs198846 ? N/A up to 29,946 european ancestry individuals//up to 6150 african american individuals//15,074 east asian individuals.; 16,389 individuals of european and african american ancestry. EFO_0004526 N/A Associate Mean corpuscular volume rs198846-? of NONHSAT206981.1 is significantly associated with the mean corpuscular volume by using GWAS analysis in up to 29,946 european ancestry individuals//up to 6150 african american individuals//15,074 east asian individuals.; 16,389 individuals of european and african american ancestry.(p-value = 3E-37 ;OR = ?). 0.4 Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis. NCRV0000002661 28017375 NONHSAT206981.1 rs198846 ? N/A up to 21,020 european ancestry individuals//up to 3,621 african american individuals//up to 15,062 east asian individuals.; 16,389 european and african american individuals. EFO_0004527 N/A Associate Mean corpuscular hemoglobin concentration rs198846-? of NONHSAT206981.1 is significantly associated with the mean corpuscular hemoglobin concentration by using GWAS analysis in up to 21,020 european ancestry individuals//up to 3,621 african american individuals//up to 15,062 east asian individuals.; 16,389 european and african american individuals.(p-value = 1E-8 ;OR = ?). 0.4 Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis. NCRV0000000020 21897333 NONHSAT192186.1 rs4417 A N/A 192 european ancestry male cases EFO_0000180 N/A Associate Fat distribution (hiv) rs4417-A of NONHSAT192186.1 is significantly associated with the fat distribution (hiv) by using GWAS analysis in 192 european ancestry male cases(p-value = 5E-6 ;OR = ?). 0.4 Genes linked to energy metabolism and immunoregulatory mechanisms are associated with subcutaneous adipose tissue distribution in HIV-infected men. NCRV0000002381 28199695 NONHSAT098201.2 rs55665660 T N/A 69,057 european ancestry individuals without immune related conditions EFO_0008377 N/A Associate Itch intensity from mosquito bite adjusted by bite size rs55665660-T of NONHSAT098201.2 is significantly associated with the itch intensity from mosquito bite adjusted by bite size by using GWAS analysis in 69,057 european ancestry individuals without immune related conditions(p-value = 6E-7 ;OR = 0.0434329). 0.4 GWAS of self-reported mosquito bite size, itch intensity and attractiveness to mosquitoes implicates immune-related predisposition loci. NCRV0000002298 23222517 NONHSAT201217.1 rs218238 A N/A 62,553 european ancestry individuals//9,308 south asian ancestry individuals; 63,506 european ancestry individuals EFO_0004305 N/A Associate Red blood cell traits rs218238-A of NONHSAT201217.1 is significantly associated with the red blood cell traits by using GWAS analysis in 62,553 european ancestry individuals//9,308 south asian ancestry individuals; 63,506 european ancestry individuals(p-value = 3E-39 ;OR = 0.033). 0.4 Seventy-five genetic loci influencing the human red blood cell. NCRV0000002921 27029810 NONHSAT179793.1 rs429358 C N/A 138,536 british ancestry mothers//133,545 british ancestry fathers; 24,168 european ancestry individuals//681 african ancestry individuals//962 afro-caribbean individuals//1,613 south asian ancestry individuals//338 chinese ancestry individuals EFO_0004300 N/A Associate Lifespan rs429358-C of NONHSAT179793.1 is significantly associated with the lifespan by using GWAS analysis in 138,536 british ancestry mothers//133,545 british ancestry fathers; 24,168 european ancestry individuals//681 african ancestry individuals//962 afro-caribbean individuals//1,613 south asian ancestry individuals//338 chinese ancestry individuals(p-value = 1E-20 ;OR = 0.1014). 0.4 Variants near CHRNA3/5 and APOE have age- and sex-related effects on human lifespan. NCRV0000002241 27863252 NONHSAT203752.1 rs13181874 C N/A 172,851 european ancestry individuals EFO_0004527 N/A Associate Mean corpuscular hemoglobin concentration rs13181874-C of NONHSAT203752.1 is significantly associated with the mean corpuscular hemoglobin concentration by using GWAS analysis in 172,851 european ancestry individuals(p-value = 2E-22 ;OR = 0.03475236). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003894 27863252 NONHSAT183670.1 rs35669853 A N/A 169,545 european ancestry individuals EFO_0007997 N/A Associate Granulocyte percentage of myeloid white cells rs35669853-A of NONHSAT183670.1 is significantly associated with the granulocyte percentage of myeloid white cells by using GWAS analysis in 169,545 european ancestry individuals(p-value = 2E-11 ;OR = 0.03052791). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002887 28165464 NONHSAT015489.2 rs6586163 A N/A 4,478 european ancestry cases and 13,213 european ancestry controls.; 1,722 european ancestry cases and 4,385 european ancestry controls. EFO_0000095 N/A Associate Chronic lymphocytic leukemia rs6586163-A of NONHSAT015489.2 is significantly associated with the chronic lymphocytic leukemia by using GWAS analysis in 4,478 european ancestry cases and 13,213 european ancestry controls.; 1,722 european ancestry cases and 4,385 european ancestry controls.(p-value = 1E-15 ;OR = 1.23). 0.4 Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia. NCRV0000003275 27863252 NONHSAT204675.1 rs3812049 G N/A 171,643 european ancestry individuals EFO_0004587 N/A Associate Lymphocyte counts rs3812049-G of NONHSAT204675.1 is significantly associated with the lymphocyte counts by using GWAS analysis in 171,643 european ancestry individuals(p-value = 1E-9 ;OR = 0.02515204). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003694 21685187 NONHSAT182644.1 rs10189546 G N/A 3,397 european ancestry cases EFO_0005670 N/A Associate Age at smoking initiation in chronic obstructive pulmonary disease rs10189546-G of NONHSAT182644.1 is significantly associated with the age at smoking initiation in chronic obstructive pulmonary disease by using GWAS analysis in 3,397 european ancestry cases(p-value = 2E-6 ;OR = 0.059). 0.4 Genome-wide association study of smoking behaviours in patients with COPD. NCRV0000001329 29221444 NONHSAT191597.1 rs4819052 ? N/A 345 african american cases//346 african american controls; 137 african american cases//68 african american controls EFO_0004723 N/A Associate Coronary artery calcified atherosclerotic plaque (90 or 130 hu threshold) in type 2 diabetes rs4819052-? of NONHSAT191597.1 is significantly associated with the coronary artery calcified atherosclerotic plaque (90 or 130 hu threshold) in type 2 diabetes by using GWAS analysis in 345 african american cases//346 african american controls; 137 african american cases//68 african american controls(p-value = 8E-6 ;OR = 0.132). 0.4 Genome-wide association study of coronary artery calcified atherosclerotic plaque in African Americans with type 2 diabetes. NCRV0000001330 29071344 NONHSAT185675.1 rs13031275 C N/A 3,041 african american individuals//1,618 european ancestry individuals; 1,612 african american individuals//1,551 european ancestry individuals EFO_0003761 N/A Associate Major depression and alcohol dependence rs13031275-C of NONHSAT185675.1 is significantly associated with the major depression and alcohol dependence by using GWAS analysis in 3,041 african american individuals//1,618 european ancestry individuals; 1,612 african american individuals//1,551 european ancestry individuals(p-value = 5E-6 ;OR = 1.032). 0.4 Genetic Risk Variants Associated With Comorbid Alcohol Dependence and Major Depression. NCRV0000003085 19801982 NONHSAT153491.1 rs6426749 C N/A 19,195 european ancestry individuals EFO_0007702 N/A Associate Bone mineral density (hip) rs6426749-C of NONHSAT153491.1 is significantly associated with the bone mineral density (hip) by using GWAS analysis in 19,195 european ancestry individuals(p-value = 9E-8 ;OR = 0.08). 0.4 Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies. NCRV0000000789 23725790 NONHSAT080583.2 rs965808 G N/A 256 european ancestry individuals; 384 european ancestry individuals GO_0006306 N/A Associate Dna methylation (variation) rs965808-G of NONHSAT080583.2 is significantly associated with the dna methylation (variation) by using GWAS analysis in 256 european ancestry individuals; 384 european ancestry individuals(p-value = 5E-9 ;OR = ?). 0.4 GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association. NCRV0000001998 27846195 NONHSAT183299.1 rs59000197 T N/A 1,390 european ancestry cases EFO_0000692 paliperidone Associate Response to paliperidone in schizophrenia (negative marder score) rs59000197-T of NONHSAT183299.1 is significantly associated with the response to paliperidone in schizophrenia (negative marder score) by using GWAS analysis in 1,390 european ancestry cases(p-value = 6E-6 ;OR = 2.5473). 0.4 Genome-wide association study of paliperidone efficacy. NCRV0000002288 28448500 NONHSAT176298.1 rs1808192 ? N/A 561 african american women//352 filipino ancestry women//725 indian ancestry women//19,366 european ancestry women//251 african american men//4,654 indian ancestry men//11,727 european ancestry men//959 european ancestry individuals; 1,437 african american women//5,184 european ancestry women//64 african american men//5,416 european ancestry men EFO_0001073 joint analysis main effects and physical activity interaction Associate Body mass index (joint analysis main effects and physical activity interaction) rs1808192-? of NONHSAT176298.1 is significantly associated with the body mass index (joint analysis main effects and physical activity interaction) by using GWAS analysis in 561 african american women//352 filipino ancestry women//725 indian ancestry women//19,366 european ancestry women//251 african american men//4,654 indian ancestry men//11,727 european ancestry men//959 european ancestry individuals; 1,437 african american women//5,184 european ancestry women//64 african american men//5,416 european ancestry men(p-value = 3E-9 ;OR = ?). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. NCRV0000002200 27863252 NONHSAT108210.2 rs1799945 G N/A 172,851 european ancestry individuals EFO_0004527 N/A Associate Mean corpuscular hemoglobin concentration rs1799945-G of NONHSAT108210.2 is significantly associated with the mean corpuscular hemoglobin concentration by using GWAS analysis in 172,851 european ancestry individuals(p-value = 1E-135 ;OR = 0.1196674). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002605 27182965 NONHSAT209157.1 rs227808 ? N/A 9,009 european ancestry cases//8,491 european ancestry controls EFO_0004191 N/A Associate Male-pattern baldness rs227808-? of NONHSAT209157.1 is significantly associated with the male-pattern baldness by using GWAS analysis in 9,009 european ancestry cases//8,491 european ancestry controls(p-value = 3E-9 ;OR = 1.1820331). 0.4 Detection and interpretation of shared genetic influences on 42 human traits. NCRV0000002579 21460840 NONHSAT182593.1 rs744373 ? N/A 6,688 european ancestry cases//13,685 european ancestry controls; 13,182 european ancestry cases//26,161 european ancestry controls EFO_0000249 N/A Associate Alzheimer's disease rs744373-? of NONHSAT182593.1 is significantly associated with the alzheimer's disease by using GWAS analysis in 6,688 european ancestry cases//13,685 european ancestry controls; 13,182 european ancestry cases//26,161 european ancestry controls(p-value = 3E-14 ;OR = 1.17). 0.4 Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. NCRV0000002485 25918132 NONHSAT067392.2 rs116520962 A N/A 74 european ancestry cases//824 european ancestry controls EFO_0000270 Diisocyanate-induced Associate Diisocyanate-induced asthma rs116520962-A of NONHSAT067392.2 is significantly associated with the diisocyanate-induced asthma by using GWAS analysis in 74 european ancestry cases//824 european ancestry controls(p-value = 2E-6 ;OR = 15.23). 0.4 Genome-Wide Association Study Identifies Novel Loci Associated With Diisocyanate-Induced Occupational Asthma. NCRV0000003240 25288136 NONHSAT211718.1 rs6968554 A N/A 17,479 european ancestry high consumption individuals//31,049 european ancestry no or low consumption individuals; 6,497 european ancestry high consumption individuals//432 african american high consumption individuals//6,972 european ancestry no or low consumption individuals//3,413 african american no or low consumption individuals EFO_0004330 N/A Associate Coffee consumption rs6968554-A of NONHSAT211718.1 is significantly associated with the coffee consumption by using GWAS analysis in 17,479 european ancestry high consumption individuals//31,049 european ancestry no or low consumption individuals; 6,497 european ancestry high consumption individuals//432 african american high consumption individuals//6,972 european ancestry no or low consumption individuals//3,413 african american no or low consumption individuals(p-value = 7E-15 ;OR = 0.2). 0.4 Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption. NCRV0000003191 28247064 NONHSAT192799.1 rs41157 T N/A 3,146 individuals EFO_0000249 N/A Associate Cerebrospinal p-tau181p levels rs41157-T of NONHSAT192799.1 is significantly associated with the cerebrospinal p-tau181p levels by using GWAS analysis in 3,146 individuals(p-value = 4E-6 ;OR = 0.025). 0.4 Genome-wide association study identifies four novel loci associated with Alzheimer's endophenotypes and disease modifiers. NCRV0000003725 21665990 NONHSAT150262.1 rs1061170 C N/A 2,594 european ancestry cases//4,134 european ancestry controls; 5,640 european ancestry cases//52,174 european ancestry controls EFO_0001365 N/A Associate Age-related macular degeneration rs1061170-C of NONHSAT150262.1 is significantly associated with the age-related macular degeneration by using GWAS analysis in 2,594 european ancestry cases//4,134 european ancestry controls; 5,640 european ancestry cases//52,174 european ancestry controls(p-value = 1E-261 ;OR = 2.41). 0.4 Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration. NCRV0000002833 26192919 NONHSAT216433.1 rs6651252 G N/A 5,956 european ancestry cases//14,927 european ancestry controls; 14,594 european ancestry cases//26,715 european ancestry controls//151 iranian ancestry cases//342 iranian ancestry controls//184 indian ancestry cases//990 indian ancestry controls//1,690 east asian ancestry cases//3,719 east asian ancestry controls EFO_0000384 N/A Associate Crohn's disease rs6651252-G of NONHSAT216433.1 is significantly associated with the crohn's disease by using GWAS analysis in 5,956 european ancestry cases//14,927 european ancestry controls; 14,594 european ancestry cases//26,715 european ancestry controls//151 iranian ancestry cases//342 iranian ancestry controls//184 indian ancestry cases//990 indian ancestry controls//1,690 east asian ancestry cases//3,719 east asian ancestry controls(p-value = 4E-16 ;OR = 1.1607062). 0.4 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. NCRV0000001210 21242260 NONHSAT216396.1 rs6983267 G N/A 1,583 japanese ancestry cases//1,898 japanese ancestry controls; 4,584 japanese ancestry cases//225 korean ancestry distal cases//2,973 east asian ancestry controls EFO_0005842 N/A Associate Colorectal cancer rs6983267-G of NONHSAT216396.1 is significantly associated with the colorectal cancer by using GWAS analysis in 1,583 japanese ancestry cases//1,898 japanese ancestry controls; 4,584 japanese ancestry cases//225 korean ancestry distal cases//2,973 east asian ancestry controls(p-value = 2E-8 ;OR = 1.18). 0.4 Common variant in 6q26-q27 is associated with distal colon cancer in an Asian population. NCRV0000003690 28869590 NONHSAT009449.2 rs340874 C N/A 6,353 south asian ancestry cases//7,179 south asian ancestry controls//3,871 european ancestry cases//16,427 european ancestry controls//34,840 cases//114,981 controls; 7,888 south asian ancestry cases//20,679 south asian ancestry controls//387 european ancestry cases//2,092 european ancestry controls//19,998 east asian ancestry cases//30,983 east asian ancestry controls EFO_0001360 N/A Associate Type 2 diabetes rs340874-C of NONHSAT009449.2 is significantly associated with the type 2 diabetes by using GWAS analysis in 6,353 south asian ancestry cases//7,179 south asian ancestry controls//3,871 european ancestry cases//16,427 european ancestry controls//34,840 cases//114,981 controls; 7,888 south asian ancestry cases//20,679 south asian ancestry controls//387 european ancestry cases//2,092 european ancestry controls//19,998 east asian ancestry cases//30,983 east asian ancestry controls(p-value = 1E-8 ;OR = 0.0597). 0.4 Identification of new susceptibility loci for type 2 diabetes and shared etiological pathways with coronary heart disease. NCRV0000003662 28604730 NONHSAT160778.1 rs78334599 G N/A 29,266 european ancestry cases//56,450 european ancestry controls EFO_0001071 N/A Associate Lung cancer rs78334599-G of NONHSAT160778.1 is significantly associated with the lung cancer by using GWAS analysis in 29,266 european ancestry cases//56,450 european ancestry controls(p-value = 8E-7 ;OR = 1.1687047). 0.4 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. NCRV0000003168 20881960 NONHSAT096531.2 rs17081935 T N/A 133,653 european ancestry individuals; 50,074 european ancestry individuals EFO_0004339 N/A Associate Height rs17081935-T of NONHSAT096531.2 is significantly associated with the height by using GWAS analysis in 133,653 european ancestry individuals; 50,074 european ancestry individuals(p-value = 4E-11 ;OR = 0.03). 0.4 Hundreds of variants clustered in genomic loci and biological pathways affect human height. NCRV0000003705 22863734 NONHSAT197280.1 rs7632427 ? N/A up to 666 european ancestry trios//399 european ancestry cases//1,318 european ancestry controls; up to 795 east asian ancestry trios MONDO_0000358 N/A Associate Orofacial clefts rs7632427-? of NONHSAT197280.1 is significantly associated with the orofacial clefts by using GWAS analysis in up to 666 european ancestry trios//399 european ancestry cases//1,318 european ancestry controls; up to 795 east asian ancestry trios(p-value = 4E-8 ;OR = ?). 0.4 Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci. NCRV0000002261 25608926 NONHSAT221073.1 rs12348691 G N/A 2,332 european ancestry cases and 5,233 european ancestry controls; 764 european ancestry cases and 2,256 european ancestry controls EFO_0004192 N/A Associate Alopecia areata rs12348691-G of NONHSAT221073.1 is significantly associated with the alopecia areata by using GWAS analysis in 2,332 european ancestry cases and 5,233 european ancestry controls; 764 european ancestry cases and 2,256 european ancestry controls(p-value = 9E-7 ;OR = 1.1840065). 0.4 Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci. NCRV0000003079 27863252 NONHSAT164108.1 rs3833788 C N/A 172,332 european ancestry individuals EFO_0004527 N/A Associate Mean corpuscular hemoglobin rs3833788-C of NONHSAT164108.1 is significantly associated with the mean corpuscular hemoglobin by using GWAS analysis in 172,332 european ancestry individuals(p-value = 3E-39 ;OR = 0.04751259). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000613 23408906 NONHSAT112932.2 rs11755845 T N/A up to 14,459 european ancestry females//up to 10,936 european ancestry males//up to 433 old order amish females//up to 592 old order amish males EFO_1000627 N/A Associate Thyroid hormone levels rs11755845-T of NONHSAT112932.2 is significantly associated with the thyroid hormone levels by using GWAS analysis in up to 14,459 european ancestry females//up to 10,936 european ancestry males//up to 433 old order amish females//up to 592 old order amish males(p-value = 2E-10 ;OR = 0.065). 0.4 A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function. NCRV0000003668 25241763 NONHSAT022168.2 rs1346 T N/A 18,963 european ancestry individuals//2,131 erasmus rucphen individuals; 2,453 chinese ancestry individuals//2,026 indian ancestry individuals//2,305 malay ancestry individuals EFO_0004832 N/A Associate Vertical cup-disc ratio rs1346-T of NONHSAT022168.2 is significantly associated with the vertical cup-disc ratio by using GWAS analysis in 18,963 european ancestry individuals//2,131 erasmus rucphen individuals; 2,453 chinese ancestry individuals//2,026 indian ancestry individuals//2,305 malay ancestry individuals(p-value = 5E-13 ;OR = 0.012). 0.4 Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process. NCRV0000002342 29186694 NONHSAT167990.1 rs2251499 ? N/A 107,207 european ancestry individuals EFO_0008354 N/A Associate Cognitive ability rs2251499-? of NONHSAT167990.1 is significantly associated with the cognitive ability by using GWAS analysis in 107,207 european ancestry individuals(p-value = 1E-10 ;OR = 6.457). 0.4 Large-Scale Cognitive GWAS Meta-Analysis Reveals Tissue-Specific Neural Expression and Potential Nootropic Drug Targets. NCRV0000002625 27863252 NONHSAT090401.2 rs35592432 C N/A 171,643 european ancestry individuals EFO_0004587 N/A Associate Lymphocyte counts rs35592432-C of NONHSAT090401.2 is significantly associated with the lymphocyte counts by using GWAS analysis in 171,643 european ancestry individuals(p-value = 4E-20 ;OR = 0.1099726). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002299 28604731 NONHSAT185367.1 rs62158211 T N/A 112,411 european ancestry male individuals EFO_0008568 N/A Associate Sleep duration rs62158211-T of NONHSAT185367.1 is significantly associated with the sleep duration by using GWAS analysis in 112,411 european ancestry male individuals(p-value = 1E-12 ;OR = 0.037). 0.4 Genome-wide association analysis of insomnia complaints identifies risk genes and genetic overlap with psychiatric and metabolic traits. NCRV0000000254 28371326 NONHSAT179794.1 rs445925 A N/A 862 han chinese ancestry cases//880 han chinese ancestry controls; 656 han chinese ancestry cases//933 han chinese ancestry controls EFO_0000319 N/A Associate Ldl cholesterol levels rs445925-A of NONHSAT179794.1 is significantly associated with the ldl cholesterol levels by using GWAS analysis in 862 han chinese ancestry cases//880 han chinese ancestry controls; 656 han chinese ancestry cases//933 han chinese ancestry controls(p-value = 1E-13 ;OR = 0.22). 0.4 Susceptibility loci for metabolic syndrome and metabolic components identified in Han Chinese: a multi-stage genome-wide association study. NCRV0000003882 26192919 NONHSAT203343.1 rs6863411 A N/A 5,956 european ancestry cases//14,927 european ancestry controls; 14,594 european ancestry cases//26,715 european ancestry controls//151 iranian ancestry cases//342 iranian ancestry controls//184 indian ancestry cases//990 indian ancestry controls//1,690 east asian ancestry cases//3,719 east asian ancestry controls EFO_0000384 N/A Associate Crohn's disease rs6863411-A of NONHSAT203343.1 is significantly associated with the crohn's disease by using GWAS analysis in 5,956 european ancestry cases//14,927 european ancestry controls; 14,594 european ancestry cases//26,715 european ancestry controls//151 iranian ancestry cases//342 iranian ancestry controls//184 indian ancestry cases//990 indian ancestry controls//1,690 east asian ancestry cases//3,719 east asian ancestry controls(p-value = 2E-14 ;OR = 1.1018033). 0.4 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. NCRV0000000724 29228715 NONHSAT048401.2 rs16944613 ? N/A 978 austrian ancestry colorectal cancer cases//636 austrian ancestry advanced colorectal adenoma cases//4,294 european ancestry controls EFO_0005842 N/A Associate Colorectal cancer rs16944613-? of NONHSAT048401.2 is significantly associated with the colorectal cancer by using GWAS analysis in 978 austrian ancestry colorectal cancer cases//636 austrian ancestry advanced colorectal adenoma cases//4,294 european ancestry controls(p-value = 2E-6 ;OR = 1.343). 0.4 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas. NCRV0000002412 23251661 NONHSAT148514.1 rs17360053 G N/A 815 hispanic children from 263 families EFO_0004735 N/A Associate Obesity-related traits rs17360053-G of NONHSAT148514.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 9E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. NCRV0000001251 26561523 NONHSAT003744.2 rs1892534 T N/A 120,246 european ancestry individuals EFO_0004623 N/A Associate Fibrinogen levels rs1892534-T of NONHSAT003744.2 is significantly associated with the fibrinogen levels by using GWAS analysis in 120,246 european ancestry individuals(p-value = 4E-15 ;OR = 0.0073). 0.4 A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration. NCRV0000002532 23251661 NONHSAT148514.1 rs17360053 G N/A 815 hispanic children from 263 families EFO_0004736 N/A Associate Obesity-related traits rs17360053-G of NONHSAT148514.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 9E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. NCRV0000000641 27989323 NONHSAT087041.2 rs187166731 C N/A 3,638 finnish ancestry individuals EFO_0005140 N/A Associate Interleukin-1-receptor antagonist levels rs187166731-C of NONHSAT087041.2 is significantly associated with the interleukin-1-receptor antagonist levels by using GWAS analysis in 3,638 finnish ancestry individuals(p-value = 5E-6 ;OR = 0.2325). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. NCRV0000000270 28540026 NONHSAT202647.1 rs4391122 ? N/A up to 6,197 european ancestry asd cases//up to 7,377 european ancestry controls//up to 1,190 asd cases//up to 1,190 controls EFO_0003756 N/A Associate Autism spectrum disorder rs4391122-? of NONHSAT202647.1 is significantly associated with the autism spectrum disorder by using GWAS analysis in up to 6,197 european ancestry asd cases//up to 7,377 european ancestry controls//up to 1,190 asd cases//up to 1,190 controls(p-value = 2E-9 ;OR = 1.0638298). 0.4 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. NCRV0000000682 23793025 NONHSAT217342.1 rs4493873 ? N/A 5,175 european ancestry clinic-based cases//13,972 european ancestry clinic-based controls EFO_0003821 N/A Associate Migraine - clinic-based rs4493873-? of NONHSAT217342.1 is significantly associated with the migraine - clinic-based by using GWAS analysis in 5,175 european ancestry clinic-based cases//13,972 european ancestry clinic-based controls(p-value = 5E-6 ;OR = 1.14). 0.4 Genome-wide meta-analysis identifies new susceptibility loci for migraine. NCRV0000001201 24665060 NONHSAT154340.1 rs953554 ? N/A 754 bangladeshi ancestry never smoker males//2,565 bangladeshi ancestry never smoker females//1,837 bangladeshi ancestry ever smoker males//198 bangladeshi ancestry ever smoker females EFO_0005670 N/A Associate Smoking initiation rs953554-? of NONHSAT154340.1 is significantly associated with the smoking initiation by using GWAS analysis in 754 bangladeshi ancestry never smoker males//2,565 bangladeshi ancestry never smoker females//1,837 bangladeshi ancestry ever smoker males//198 bangladeshi ancestry ever smoker females(p-value = 6E-6 ;OR = ?). 0.4 Genome-wide association study of smoking behaviours among Bangladeshi adults. NCRV0000003891 27863252 NONHSAT144816.2 rs8068017 C N/A 169,822 european ancestry individuals EFO_0007987 N/A Associate Granulocyte count rs8068017-C of NONHSAT144816.2 is significantly associated with the granulocyte count by using GWAS analysis in 169,822 european ancestry individuals(p-value = 5E-10 ;OR = 0.0245413). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002410 23406873 NONHSAT206401.1 rs248471 G N/A 665 han chinese ancestry cases//960 han chinese ancestry controls; 2,128 han chinese ancestry cases//3,683 han chinese ancestry controls EFO_0004207 N/A Associate Myopia (pathological) rs248471-G of NONHSAT206401.1 is significantly associated with the myopia (pathological) by using GWAS analysis in 665 han chinese ancestry cases//960 han chinese ancestry controls; 2,128 han chinese ancestry cases//3,683 han chinese ancestry controls(p-value = 2E-6 ;OR = 1.19). 0.4 A genome-wide meta-analysis identifies two novel loci associated with high myopia in the Han Chinese population. NCRV0000002998 27863252 NONHSAT198706.1 rs16850073 T N/A 172,435 european ancestry individuals EFO_0004308 N/A Associate White blood cell count rs16850073-T of NONHSAT198706.1 is significantly associated with the white blood cell count by using GWAS analysis in 172,435 european ancestry individuals(p-value = 3E-34 ;OR = 0.04534241). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003456 23396134 NONHSAT131771.2 rs11145465 A N/A 37,382 european ancestry individuals//3,995 chinese ancestry individuals//2,273 malay ancestry individuals//2,108 indian ancestry individuals HP_0000539 N/A Associate Refractive error rs11145465-A of NONHSAT131771.2 is significantly associated with the refractive error by using GWAS analysis in 37,382 european ancestry individuals//3,995 chinese ancestry individuals//2,273 malay ancestry individuals//2,108 indian ancestry individuals(p-value = 7E-9 ;OR = 0.124). 0.4 Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia. NCRV0000000319 24430505 NONHSAT174674.1 rs7188801 G N/A 2,483 east asian ancestry individuals//1,885 european ancestry individuals//11,146 individuals; 10,074 european ancestry individuals//2,870 european and other ancestry individuals//21,434 individuals EFO_0005654 N/A Associate Bone properties (heel) rs7188801-G of NONHSAT174674.1 is significantly associated with the bone properties (heel) by using GWAS analysis in 2,483 east asian ancestry individuals//1,885 european ancestry individuals//11,146 individuals; 10,074 european ancestry individuals//2,870 european and other ancestry individuals//21,434 individuals(p-value = 8E-6 ;OR = 0.05). 0.4 Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium. NCRV0000002890 23793025 NONHSAT050231.2 rs1437588 ? N/A 23,285 european ancestry cases//95,425 european ancestry controls EFO_0003821 N/A Associate Migraine rs1437588-? of NONHSAT050231.2 is significantly associated with the migraine by using GWAS analysis in 23,285 european ancestry cases//95,425 european ancestry controls(p-value = 3E-6 ;OR = 1.05). 0.4 Genome-wide meta-analysis identifies new susceptibility loci for migraine. NCRV0000000337 27225129 NONHSAT070902.2 rs356992 C N/A 405,072 european ancestry individuals EFO_0004784 N/A Associate Educational attainment (years of education) rs356992-C of NONHSAT070902.2 is significantly associated with the educational attainment (years of education) by using GWAS analysis in 405,072 european ancestry individuals(p-value = 4E-12 ;OR = 0.016876938). 0.4 Genome-wide association study identifies 74 loci associated with educational attainment. NCRV0000001479 28394258 NONHSAT160058.1 rs10839968 C N/A 30,201 european ancestry individuals EFO_0003777 N/A Associate Left ventricle systolic dysfunction rs10839968-C of NONHSAT160058.1 is significantly associated with the left ventricle systolic dysfunction by using GWAS analysis in 30,201 european ancestry individuals(p-value = 7E-6 ;OR = 0.3109). 0.4 Large-scale genome-wide analysis identifies genetic variants associated with cardiac structure and function. NCRV0000003137 29059683 NONHSAT081192.2 rs2822999 G N/A 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls EFO_0000305 N/A Associate Breast cancer rs2822999-G of NONHSAT081192.2 is significantly associated with the breast cancer by using GWAS analysis in 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls(p-value = 2E-11 ;OR = 0.0589). 0.4 Association analysis identifies 65 new breast cancer risk loci. NCRV0000003428 26634245 NONHSAT023893.2 rs569444 A N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs569444-A of NONHSAT023893.2 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 2E-7 ;OR = 0.016). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000000754 28552477 NONHSAT149925.1 rs77141833 C N/A 374 cases Orphanet_232 N/A Associate Red blood cell density in sickle cell anemia rs77141833-C of NONHSAT149925.1 is significantly associated with the red blood cell density in sickle cell anemia by using GWAS analysis in 374 cases(p-value = 2E-6 ;OR = 1.12). 0.4 Genome-wide association study of erythrocyte density in sickle cell disease patients. NCRV0000001612 28240269 NONHSAT108768.2 rs2284178 T N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0008234 N/A Associate Blood protein levels rs2284178-T of NONHSAT108768.2 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 1E-14 ;OR = 0.3444). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. NCRV0000002424 22006218 NONHSAT213837.1 rs1404697 ? N/A 8,842 korean ancestry individuals; 1,366 african american individuals//671 european ancestry individuals EFO_0004318 N/A Associate Smoking behavior rs1404697-? of NONHSAT213837.1 is significantly associated with the smoking behavior by using GWAS analysis in 8,842 korean ancestry individuals; 1,366 african american individuals//671 european ancestry individuals(p-value = 5E-6 ;OR = ?). 0.4 Large-scale genome-wide association study of Asian population reveals genetic factors in FRMD4A and other loci influencing smoking initiation and nicotine dependence. NCRV0000001234 25742292 NONHSAT150206.1 rs12408261 ? N/A 1,686 bangladeshi women EFO_0006918 N/A Associate Number of pregnancies rs12408261-? of NONHSAT150206.1 is significantly associated with the number of pregnancies by using GWAS analysis in 1,686 bangladeshi women(p-value = 3E-6 ;OR = 0.28). 0.4 Genome-wide association study of parity in Bangladeshi women. NCRV0000001826 28053049 NONHSAT196718.1 rs710446 ? N/A 16,169 european ancestry individuals; 2,045 european ancestry individuals EFO_0004694 N/A Associate Factor xi rs710446-? of NONHSAT196718.1 is significantly associated with the factor xi by using GWAS analysis in 16,169 european ancestry individuals; 2,045 european ancestry individuals(p-value = 2E-302 ;OR = 0.0888). 0.4 Genome-wide association study with additional genetic and post-transcriptional analyses reveals novel regulators of plasma factor XI levels. NCRV0000002547 18821564 NONHSAT193307.1 rs9627183 C N/A 105 european ancestry cases//34 hispanic cases//26 african american cases//22 cases EFO_0003888 N/A Associate Attention deficit hyperactivity disorder rs9627183-C of NONHSAT193307.1 is significantly associated with the attention deficit hyperactivity disorder by using GWAS analysis in 105 european ancestry cases//34 hispanic cases//26 african american cases//22 cases(p-value = 3E-6 ;OR = ?). 0.4 Genome-wide association study of response to methylphenidate in 187 children with attention-deficit/hyperactivity disorder. NCRV0000003907 22688191 NONHSAT004742.2 rs1198588 ? N/A 2,111 european ancestry cases//2,535 european ancestry controls; 11,271 european ancestry cases//14,601 european ancestry controls EFO_0000692 N/A Associate Schizophrenia rs1198588-? of NONHSAT004742.2 is significantly associated with the schizophrenia by using GWAS analysis in 2,111 european ancestry cases//2,535 european ancestry controls; 11,271 european ancestry cases//14,601 european ancestry controls(p-value = 5E-7 ;OR = 1.12). 0.4 Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder. NCRV0000003092 27863252 NONHSAT180243.1 rs2285627 C N/A 171,846 european ancestry individuals EFO_0005090 N/A Associate White blood cell count (basophil) rs2285627-C of NONHSAT180243.1 is significantly associated with the white blood cell count (basophil) by using GWAS analysis in 171,846 european ancestry individuals(p-value = 1E-9 ;OR = 0.02261553). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001170 20195266 NONHSAT210772.1 rs1577917 ? N/A 421 european ancestry//214 african american//and 103 cases GO_0097338 N/A Associate Response to antipsychotic treatment rs1577917-? of NONHSAT210772.1 is significantly associated with the response to antipsychotic treatment by using GWAS analysis in 421 european ancestry//214 african american//and 103 cases(p-value = 3E-6 ;OR = ?). 0.4 Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs. NCRV0000003498 21738478 NONHSAT197521.1 rs4328821 A N/A 8,794 japanese ancestry individuals; 5,998 japanese ancestry individuals EFO_0005090 N/A Associate White blood cell types rs4328821-A of NONHSAT197521.1 is significantly associated with the white blood cell types by using GWAS analysis in 8,794 japanese ancestry individuals; 5,998 japanese ancestry individuals(p-value = 5E-40 ;OR = 0.161). 0.4 Identification of nine novel loci associated with white blood cell subtypes in a Japanese population. NCRV0000000458 26424050 NONHSAT175903.1 rs8753 T N/A 2,364 northern european ancestry cases//7,435 northern european ancestry controls; up to 1,490 european ancestry cases//up to 1,723 european ancestry controls EFO_0000326 N/A Associate Non-glioblastoma glioma rs8753-T of NONHSAT175903.1 is significantly associated with the non-glioblastoma glioma by using GWAS analysis in 2,364 northern european ancestry cases//7,435 northern european ancestry controls; up to 1,490 european ancestry cases//up to 1,723 european ancestry controls(p-value = 8E-18 ;OR = 3.09). 0.4 Genome-wide association study identifies multiple susceptibility loci for glioma. NCRV0000001347 27863252 NONHSAT163205.1 rs12820863 T N/A 172,275 european ancestry individuals EFO_0004842 N/A Associate Eosinophil counts rs12820863-T of NONHSAT163205.1 is significantly associated with the eosinophil counts by using GWAS analysis in 172,275 european ancestry individuals(p-value = 4E-9 ;OR = 0.02283322). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001678 23251661 NONHSAT060537.2 rs12977510 A N/A 815 hispanic children from 263 families EFO_0004626 N/A Associate Obesity-related traits rs12977510-A of NONHSAT060537.2 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 6E-6 ;OR = 0.03). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. NCRV0000001643 25644384 NONHSAT179017.1 rs307120 ? N/A 51,719 european ancestry individuals 1,473 erasmus rupchen (founder/genetic isolate) individuals//327 korculan (founder/genetic isolate) individuals//430 orcadian (founder/genetic isolate) individuals EFO_0003925 N/A Associate Cognitive function rs307120-? of NONHSAT179017.1 is significantly associated with the cognitive function by using GWAS analysis in 51,719 european ancestry individuals 1,473 erasmus rupchen (founder/genetic isolate) individuals//327 korculan (founder/genetic isolate) individuals//430 orcadian (founder/genetic isolate) individuals(p-value = 5E-6 ;OR = 0.0277). 0.4 Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53949). NCRV0000000863 27863252 NONHSAT008671.2 rs1434282 T N/A 172,952 european ancestry individuals EFO_0004305 N/A Associate Red blood cell count rs1434282-T of NONHSAT008671.2 is significantly associated with the red blood cell count by using GWAS analysis in 172,952 european ancestry individuals(p-value = 7E-29 ;OR = 0.04484456). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002189 27863252 NONHSAT206588.1 rs55713716 A N/A 172,275 european ancestry individuals EFO_0004842 N/A Associate Eosinophil counts rs55713716-A of NONHSAT206588.1 is significantly associated with the eosinophil counts by using GWAS analysis in 172,275 european ancestry individuals(p-value = 1E-21 ;OR = 0.04793884). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001741 27082954 NONHSAT158939.1 rs16914101 ? N/A 104 european ancestry cases//1,519 european ancestry controls//34 african american cases//520 african american controls EFO_0004265 traffic-related air pollution interaction Associate Peripheral arterial disease (traffic-related air pollution interaction) rs16914101-? of NONHSAT158939.1 is significantly associated with the peripheral arterial disease (traffic-related air pollution interaction) by using GWAS analysis in 104 european ancestry cases//1,519 european ancestry controls//34 african american cases//520 african american controls(p-value = 2E-6 ;OR = 4.9). 0.4 Genetic Variants in the Bone Morphogenic Protein Gene Family Modify the Association between Residential Exposure to Traffic and Peripheral Arterial Disease. NCRV0000001974 21681796 NONHSAT055957.2 rs1055129 G N/A 9,361 european ancestry individuals; 3,024 european ancestry individuals Orphanet_136 N/A Associate White matter hyperintensity burden rs1055129-G of NONHSAT055957.2 is significantly associated with the white matter hyperintensity burden by using GWAS analysis in 9,361 european ancestry individuals; 3,024 european ancestry individuals(p-value = 3E-11 ;OR = ?). 0.4 Genome-wide association studies of cerebral white matter lesion burden: the CHARGE consortium. NCRV0000000268 26154020 NONHSAT175735.1 rs906175 T N/A 530 european ancestry cases//926 european ancestry controls Orphanet_282 N/A Associate Frontotemporal dementia rs906175-T of NONHSAT175735.1 is significantly associated with the frontotemporal dementia by using GWAS analysis in 530 european ancestry cases//926 european ancestry controls(p-value = 1E-7 ;OR = 1.58). 0.4 A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia. NCRV0000000245 26256467 NONHSAT203634.1 rs10866682 C N/A 872 european ancestry individuals; 843 old order amish individuals EFO_0000319 N/A Associate Postprandial triglyceride response to high fat diet meal rs10866682-C of NONHSAT203634.1 is significantly associated with the postprandial triglyceride response to high fat diet meal by using GWAS analysis in 872 european ancestry individuals; 843 old order amish individuals(p-value = 6E-7 ;OR = 0.4356). 0.4 Genome-wide association study of triglyceride response to a high-fat meal among participants of the NHLBI Genetics of Lipid Lowering Drugs and Diet Network (GOLDN). NCRV0000003604 19176441 NONHSAT204051.1 rs267759 A N/A 356 european ancestry cases//53 black cases//78 cases EFO_0000220 N/A Associate Response to treatment for acute lymphoblastic leukemia rs267759-A of NONHSAT204051.1 is significantly associated with the response to treatment for acute lymphoblastic leukemia by using GWAS analysis in 356 european ancestry cases//53 black cases//78 cases(p-value = 7E-6 ;OR = 3.23). 0.4 Genome-wide interrogation of germline genetic variation associated with treatment response in childhood acute lymphoblastic leukemia. NCRV0000001947 29059683 NONHSAT196478.1 rs2136690 G N/A 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls EFO_0000305 N/A Associate Breast cancer rs2136690-G of NONHSAT196478.1 is significantly associated with the breast cancer by using GWAS analysis in 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls(p-value = 4E-6 ;OR = 0.0289). 0.4 Association analysis identifies 65 new breast cancer risk loci. NCRV0000001577 26829030 NONHSAT023550.2 rs1126809 A N/A 6,891 european ancestry cases//54,566 european ancestry controls; 810 european ancestry cases// 5,600 european ancestry controls EFO_0000707 N/A Associate Squamous cell carcinoma rs1126809-A of NONHSAT023550.2 is significantly associated with the squamous cell carcinoma by using GWAS analysis in 6,891 european ancestry cases//54,566 european ancestry controls; 810 european ancestry cases// 5,600 european ancestry controls(p-value = 2E-20 ;OR = 1.19). 0.4 Identification of Susceptibility Loci for Cutaneous Squamous Cell Carcinoma. NCRV0000002114 26634245 NONHSAT182562.1 rs142793646 A N/A 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio in copd rs142793646-A of NONHSAT182562.1 is significantly associated with the post bronchodilator fev1/fvc ratio in copd by using GWAS analysis in 5,439 european ancestry current and former smoker cases//821 african american current and former smoker cases(p-value = 4E-7 ;OR = 0.404). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000001063 27863252 NONHSAT219044.1 rs73381355 T N/A 172,433 european ancestry individuals EFO_0004526 N/A Associate Mean corpuscular volume rs73381355-T of NONHSAT219044.1 is significantly associated with the mean corpuscular volume by using GWAS analysis in 172,433 european ancestry individuals(p-value = 1E-10 ;OR = 0.04282849). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001276 27863252 NONHSAT219044.1 rs73381355 T N/A 172,332 european ancestry individuals EFO_0004527 N/A Associate Mean corpuscular hemoglobin rs73381355-T of NONHSAT219044.1 is significantly associated with the mean corpuscular hemoglobin by using GWAS analysis in 172,332 european ancestry individuals(p-value = 2E-10 ;OR = 0.04238021). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000169 28928442 NONHSAT149487.1 rs10494021 ? N/A 46,936 european ancestry cases//74,874 european ancestry controls EFO_0007904 N/A Associate Childhood ear infection rs10494021-? of NONHSAT149487.1 is significantly associated with the childhood ear infection by using GWAS analysis in 46,936 european ancestry cases//74,874 european ancestry controls(p-value = 7E-6 ;OR = 1.1399). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. NCRV0000002556 25855136 NONHSAT162210.1 rs11170164 T N/A 4,572 european ancestry cases//266,358 european ancestry controls; up to 956 european ancestry cases//up to 4,214 european ancestry controls//526 cases//528 controls EFO_0004193 N/A Associate Basal cell carcinoma rs11170164-T of NONHSAT162210.1 is significantly associated with the basal cell carcinoma by using GWAS analysis in 4,572 european ancestry cases//266,358 european ancestry controls; up to 956 european ancestry cases//up to 4,214 european ancestry controls//526 cases//528 controls(p-value = 9E-9 ;OR = 1.29). 0.4 New basal cell carcinoma susceptibility loci. NCRV0000001963 28443625 NONHSAT152966.1 rs765751 C N/A 95,362 european ancestry women//62,085 european ancestry men//5,829 european ancestry individuals//10,500 african american/afro-caribbean ancestry women//2,706 african american/afro-caribbean ancestry men//1,030 indian asian ancestry women//7,648 indian asian ancestry men//1,793 filipino ancestry women//2,944 hispanic/latino ancestry women//1,764 hispanic/latino ancestry men; 21,496 european ancestry women//24,385 european ancestry men//118,364 european ancestry individuals//2,326 african american/afro-caribbean ancestry women//855 african american/afro-caribbean ancestry men EFO_0007788 adjusted for smoking behaviour Associate Waist-to-hip ratio adjusted for bmi (adjusted for smoking behaviour) rs765751-C of NONHSAT152966.1 is significantly associated with the waist-to-hip ratio adjusted for bmi (adjusted for smoking behaviour) by using GWAS analysis in 95,362 european ancestry women//62,085 european ancestry men//5,829 european ancestry individuals//10,500 african american/afro-caribbean ancestry women//2,706 african american/afro-caribbean ancestry men//1,030 indian asian ancestry women//7,648 indian asian ancestry men//1,793 filipino ancestry women//2,944 hispanic/latino ancestry women//1,764 hispanic/latino ancestry men; 21,496 european ancestry women//24,385 european ancestry men//118,364 european ancestry individuals//2,326 african american/afro-caribbean ancestry women//855 african american/afro-caribbean ancestry men(p-value = 9E-31 ;OR = 0.031). 0.4 Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. NCRV0000002933 28135244 NONHSAT001665.2 rs6686889 T N/A 140,886 european ancestry individuals; 190,318 european ancestry individuals EFO_0006336 N/A Associate Diastolic blood pressure rs6686889-T of NONHSAT001665.2 is significantly associated with the diastolic blood pressure by using GWAS analysis in 140,886 european ancestry individuals; 190,318 european ancestry individuals(p-value = 4E-9 ;OR = 0.185). 0.4 Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk. NCRV0000003488 28031287 NONHSAT179731.1 rs2304176 ? N/A 133 japanese ancestry individuals. EFO_0005772 N/A Associate Cerebrospinal fluid biomarker levels rs2304176-? of NONHSAT179731.1 is significantly associated with the cerebrospinal fluid biomarker levels by using GWAS analysis in 133 japanese ancestry individuals.(p-value = 7E-33 ;OR = ?). 0.4 Genome-wide quantitative trait loci mapping of the human cerebrospinal fluid proteome. NCRV0000002016 25649181 NONHSAT186899.1 rs17835319 A N/A 175 users// 6,268 nonusers EFO_0003761 SSRI exposure interaction Associate Depressive symptoms (ssri exposure interaction) rs17835319-A of NONHSAT186899.1 is significantly associated with the depressive symptoms (ssri exposure interaction) by using GWAS analysis in 175 users// 6,268 nonusers(p-value = 2E-6 ;OR = 0.74). 0.4 Identifying genetic loci associated with antidepressant drug response with drug-gene interaction models in a population-based study. NCRV0000003434 25751625 NONHSAT173881.1 rs3803662 A N/A 15,748 european ancestry cases//18,084 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls EFO_0000305 N/A Associate Breast cancer rs3803662-A of NONHSAT173881.1 is significantly associated with the breast cancer by using GWAS analysis in 15,748 european ancestry cases//18,084 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls(p-value = 4E-117 ;OR = 1.24). 0.4 Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer. NCRV0000002925 28183528 NONHSAT054945.2 rs2632516 ? N/A 4,829 european ancestry cases//9,740 european ancestry controls//607 african american cases//2,270 african american controls//416 japanese ancestry cases//743 japanese ancestry controls//51 israeli-arab ancestry cases//64 israeli-arab ancestry controls; 2,751 european ancestry cases//11,497 european ancestry controls EFO_0000249 N/A Associate Alzheimer's disease rs2632516-? of NONHSAT054945.2 is significantly associated with the alzheimer's disease by using GWAS analysis in 4,829 european ancestry cases//9,740 european ancestry controls//607 african american cases//2,270 african american controls//416 japanese ancestry cases//743 japanese ancestry controls//51 israeli-arab ancestry cases//64 israeli-arab ancestry controls; 2,751 european ancestry cases//11,497 european ancestry controls(p-value = 4E-8 ;OR = 1.0869565). 0.4 Transethnic genome-wide scan identifies novel Alzheimer's disease loci. NCRV0000001499 25646338 NONHSAT221600.1 rs7870863 A N/A 8,013 european ancestry individuals; 1,082 african american individuals//669 chinese ancestry individuals//657 hispanic individuals EFO_0006821 N/A Associate Trans fatty acid levels rs7870863-A of NONHSAT221600.1 is significantly associated with the trans fatty acid levels by using GWAS analysis in 8,013 european ancestry individuals; 1,082 african american individuals//669 chinese ancestry individuals//657 hispanic individuals(p-value = 4E-6 ;OR = 0.0048). 0.4 Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium. NCRV0000002414 22993228 NONHSAT108944.2 rs9469300 A N/A 4,683 european ancestry individuals EFO_0004994 N/A Associate Disc degeneration (lumbar) rs9469300-A of NONHSAT108944.2 is significantly associated with the disc degeneration (lumbar) by using GWAS analysis in 4,683 european ancestry individuals(p-value = 1E-7 ;OR = 0.19). 0.4 Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects. NCRV0000003072 23934736 NONHSAT188403.1 rs6085533 A N/A 1,260 african american individuals EFO_0005276 N/A Associate Metabolite levels (x-11787) rs6085533-A of NONHSAT188403.1 is significantly associated with the metabolite levels (x-11787) by using GWAS analysis in 1,260 african american individuals(p-value = 1E-6 ;OR = 0.04). 0.4 Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study. NCRV0000002491 28448500 NONHSAT213292.1 rs1055144 T N/A 2,518 african american women//83,707 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//52,993 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men EFO_0007788 in active individuals Associate Waist-to-hip ratio adjusted for bmi in active individuals rs1055144-T of NONHSAT213292.1 is significantly associated with the waist-to-hip ratio adjusted for bmi in active individuals by using GWAS analysis in 2,518 african american women//83,707 european ancestry women//1,773 filipino ancestry women//1,030 indian ancestry women//1,457 african american men//52,993 european ancestry men//7,648 indian ancestry men//5,527 european ancestry individuals; 6,244 african american women//17,531 european ancestry women//329 african american men//19,956 european ancestry men(p-value = 6E-13 ;OR = 0.0404). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. NCRV0000001091 28448500 NONHSAT213292.1 rs1055144 T N/A 561 african american women//352 filipino ancestry women//725 indian ancestry women//19,288 european ancestry women//251 african american men//4,654 indian ancestry men//11,681 european ancestry men//959 european ancestry individuals; 1,437 african american women//5,184 european ancestry women//64 african american men//5,416 european ancestry men EFO_0007789 joint analysis main effects and physical activity interaction Associate Waist circumference adjusted for bmi in active individuals rs1055144-T of NONHSAT213292.1 is significantly associated with the waist circumference adjusted for bmi in active individuals by using GWAS analysis in 561 african american women//352 filipino ancestry women//725 indian ancestry women//19,288 european ancestry women//251 african american men//4,654 indian ancestry men//11,681 european ancestry men//959 european ancestry individuals; 1,437 african american women//5,184 european ancestry women//64 african american men//5,416 european ancestry men(p-value = 6E-12 ;OR = 0.0357). 0.4 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. NCRV0000002089 24951543 NONHSAT115335.2 rs75796365 C N/A 2,369 malay ancestry individuals//2,200 indian ancestry individuals//2,571 chinese ancestry individuals HP_0011142 N/A Associate Age-related nuclear cataracts rs75796365-C of NONHSAT115335.2 is significantly associated with the age-related nuclear cataracts by using GWAS analysis in 2,369 malay ancestry individuals//2,200 indian ancestry individuals//2,571 chinese ancestry individuals(p-value = 3E-6 ;OR = 0.13). 0.4 Meta-analysis of genome-wide association studies in multiethnic Asians identifies two loci for age-related nuclear cataract. NCRV0000001528 29059683 NONHSAT217627.1 rs11780156 T N/A 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls EFO_0000305 N/A Associate Breast cancer rs11780156-T of NONHSAT217627.1 is significantly associated with the breast cancer by using GWAS analysis in 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls(p-value = 1E-13 ;OR = 1.05). 0.4 Association analysis identifies 65 new breast cancer risk loci. NCRV0000001167 27089181 NONHSAT199055.1 rs6842789 A N/A 170,911 european ancestry individuals EFO_0007660 N/A Associate Neuroticism rs6842789-A of NONHSAT199055.1 is significantly associated with the neuroticism by using GWAS analysis in 170,911 european ancestry individuals(p-value = 4E-6 ;OR = 0.02267423). 0.4 Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses. NCRV0000003472 26634245 NONHSAT047580.2 rs8040868NR ? N/A 6,659 european ancestry current and former smoker individuals EFO_0003892 N/A Associate Pre bronchodilator fev1 rs8040868NR-? of NONHSAT047580.2 is significantly associated with the pre bronchodilator fev1 by using GWAS analysis in 6,659 european ancestry current and former smoker individuals(p-value = 4E-11 ;OR = 0.08504). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000002876 26417704 NONHSAT161116.1 rs7929679 G N/A 4,139 european and other ancestry p.phe508del homozygote cases// 2,226 european and other ancestry cases Orphanet_586 N/A Associate Lung disease severity in cystic fibrosis rs7929679-G of NONHSAT161116.1 is significantly associated with the lung disease severity in cystic fibrosis by using GWAS analysis in 4,139 european and other ancestry p.phe508del homozygote cases// 2,226 european and other ancestry cases(p-value = 1E-7 ;OR = ?). 0.4 Genome-wide association meta-analysis identifies five modifier loci of lung disease severity in cystic fibrosis. NCRV0000001027 29077507 NONHSAT078048.2 rs142002225 T N/A 677 african american women//544 african american men//115 asian women//113 asian men//1,825 european ancestry women//3,902 european ancestry men// 7,492 hispanic women//5,065 hispanic men EFO_0003918 N/A Associate Obstructive sleep apnea trait (apnea hypopnea index) rs142002225-T of NONHSAT078048.2 is significantly associated with the obstructive sleep apnea trait (apnea hypopnea index) by using GWAS analysis in 677 african american women//544 african american men//115 asian women//113 asian men//1,825 european ancestry women//3,902 european ancestry men// 7,492 hispanic women//5,065 hispanic men(p-value = 3E-7 ;OR = 0.108). 0.4 Multiethnic Meta-Analysis Identifies RAI1 as a Possible Obstructive Sleep Apnea-related Quantitative Trait Locus in Men. NCRV0000001036 26184070 NONHSAT127684.2 rs4500123 ? N/A 750 european ancestry child and adolescent cases EFO_0003888 N/A Associate Oppositional defiant disorder dimensions in attention-deficit hyperactivity disorder rs4500123-? of NONHSAT127684.2 is significantly associated with the oppositional defiant disorder dimensions in attention-deficit hyperactivity disorder by using GWAS analysis in 750 european ancestry child and adolescent cases(p-value = 6E-6 ;OR = ?). 0.4 Gene-set and multivariate genome-wide association analysis of oppositional defiant behavior subtypes in attention-deficit/hyperactivity disorder. NCRV0000002004 26776603 NONHSAT016481.2 rs1679568 ? N/A 31 japanese ancestry mild cases//282 japanese ancestry moderate cases//131 japanese ancestry severe cases EFO_0000685 N/A Associate Response to anti-tnf therapy in rheumatoid arthritis rs1679568-? of NONHSAT016481.2 is significantly associated with the response to anti-tnf therapy in rheumatoid arthritis by using GWAS analysis in 31 japanese ancestry mild cases//282 japanese ancestry moderate cases//131 japanese ancestry severe cases(p-value = 8E-7 ;OR = 0.35). 0.4 A longitudinal genome-wide association study of anti-tumor necrosis factor response among Japanese patients with rheumatoid arthritis. NCRV0000002506 26691988 NONHSAT060783.2 rs2230199 ? N/A 16,144 european ancestry cases//17,832 european ancestry controls; 473 asian ancestry cases//1,099 asian ancestry controls//52 african ancestry cases//361 african ancestry cases//254 other non-european ancestry cases//694 other non-european ancestry controls EFO_0001365 N/A Associate Advanced age-related macular degeneration rs2230199-? of NONHSAT060783.2 is significantly associated with the advanced age-related macular degeneration by using GWAS analysis in 16,144 european ancestry cases//17,832 european ancestry controls; 473 asian ancestry cases//1,099 asian ancestry controls//52 african ancestry cases//361 african ancestry cases//254 other non-european ancestry cases//694 other non-european ancestry controls(p-value = 4E-69 ;OR = 1.43). 0.4 A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants. NCRV0000003695 27927641 NONHSAT173311.1 rs78507369 ? N/A 178 european ancestry cases//434 european ancestry controls//81 hispanic/latin american cases//177 hispanic/latin american controls//511 cases//6,336 controls EFO_1001999 N/A Associate Systemic juvenile idiopathic arthritis rs78507369-? of NONHSAT173311.1 is significantly associated with the systemic juvenile idiopathic arthritis by using GWAS analysis in 178 european ancestry cases//434 european ancestry controls//81 hispanic/latin american cases//177 hispanic/latin american controls//511 cases//6,336 controls(p-value = 2E-6 ;OR = 3.0). 0.4 Genetic architecture distinguishes systemic juvenile idiopathic arthritis from other forms of juvenile idiopathic arthritis: clinical and therapeutic implications. NCRV0000002772 28453575 NONHSAT160034.1 rs33930165 C N/A 12,502 hispanic/latino individuals; 4,772 hispanic/latino individuals EFO_0004527 N/A Associate Mean corpuscular hemoglobin concentration rs33930165-C of NONHSAT160034.1 is significantly associated with the mean corpuscular hemoglobin concentration by using GWAS analysis in 12,502 hispanic/latino individuals; 4,772 hispanic/latino individuals(p-value = 7E-24 ;OR = 1.86). 0.4 Genome-wide association study of red blood cell traits in Hispanics/Latinos: The Hispanic Community Health Study/Study of Latinos. NCRV0000002083 23793025 NONHSAT155061.1 rs11816922 A N/A 23,285 european ancestry cases//95,425 european ancestry controls EFO_0003821 N/A Associate Migraine rs11816922-A of NONHSAT155061.1 is significantly associated with the migraine by using GWAS analysis in 23,285 european ancestry cases//95,425 european ancestry controls(p-value = 5E-6 ;OR = 1.1). 0.4 Genome-wide meta-analysis identifies new susceptibility loci for migraine. NCRV0000001010 26075790 NONHSAT075637.2 rs711830 ? N/A 1,003 european ancestry invasive cases//641 european ancestry low malignant potential cases//21,693 european ancestry controls EFO_0006462 N/A Associate Mucinous ovarian carcinoma rs711830-? of NONHSAT075637.2 is significantly associated with the mucinous ovarian carcinoma by using GWAS analysis in 1,003 european ancestry invasive cases//641 european ancestry low malignant potential cases//21,693 european ancestry controls(p-value = 8E-12 ;OR = 1.3). 0.4 Genome-wide significant risk associations for mucinous ovarian carcinoma. NCRV0000002519 24324551 NONHSAT041709.2 rs10468092 ? N/A 207 brazilian ancestry cases//306 brazilian ancestry controls EFO_0005529 in Tripanosoma cruzi seropositivity Associate Chagas cardiomyopathy in tripanosoma cruzi seropositivity rs10468092-? of NONHSAT041709.2 is significantly associated with the chagas cardiomyopathy in tripanosoma cruzi seropositivity by using GWAS analysis in 207 brazilian ancestry cases//306 brazilian ancestry controls(p-value = 4E-6 ;OR = ?). 0.4 Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects. NCRV0000003535 26007630 NONHSAT208975.1 rs6919908 T N/A 2,194 european ancestry multiple myeloma cases//251 european ancestry monoclonal gammopathy cases//294,390 european ancestry controls; 586 european ancestry multiple myeloma cases//2,111 european ancestry controls EFO_0000203 N/A Associate Multiple myeloma and monoclonal gammopathy rs6919908-T of NONHSAT208975.1 is significantly associated with the multiple myeloma and monoclonal gammopathy by using GWAS analysis in 2,194 european ancestry multiple myeloma cases//251 european ancestry monoclonal gammopathy cases//294,390 european ancestry controls; 586 european ancestry multiple myeloma cases//2,111 european ancestry controls(p-value = 6E-10 ;OR = 0.23). 0.4 Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma. NCRV0000000648 27989323 NONHSAT183730.1 rs77240236 C N/A 3,631 finnish ancestry individuals EFO_0005140 N/A Associate Ctack levels rs77240236-C of NONHSAT183730.1 is significantly associated with the ctack levels by using GWAS analysis in 3,631 finnish ancestry individuals(p-value = 5E-6 ;OR = 0.2551). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. NCRV0000001683 22446963 NONHSAT172778.1 rs7404928 T N/A 4,074 japanese ancestry cases//16,891 japanese ancestry controls; 5,277 japanese ancestry cases//21,684 japanese ancestry controls EFO_0000685 N/A Associate Rheumatoid arthritis rs7404928-T of NONHSAT172778.1 is significantly associated with the rheumatoid arthritis by using GWAS analysis in 4,074 japanese ancestry cases//16,891 japanese ancestry controls; 5,277 japanese ancestry cases//21,684 japanese ancestry controls(p-value = 4E-6 ;OR = 1.08). 0.4 Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population. NCRV0000000330 29228715 NONHSAT167225.1 rs7985095 ? N/A 855 austrian ancestry colonoscopy-negative controls//3,439 european ancestry controls NCIT_C16450 N/A Associate Colonoscopy-negative controls vs population controls rs7985095-? of NONHSAT167225.1 is significantly associated with the colonoscopy-negative controls vs population controls by using GWAS analysis in 855 austrian ancestry colonoscopy-negative controls//3,439 european ancestry controls(p-value = 8E-6 ;OR = 1.3544629). 0.4 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas. NCRV0000001058 28240269 NONHSAT196733.1 rs17366568 ? N/A 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals EFO_0004502 N/A Associate Blood protein levels rs17366568-? of NONHSAT196733.1 is significantly associated with the blood protein levels by using GWAS analysis in 997 european ancestry individuals; 338 arab//south asian and filipino ancestry individuals(p-value = 6E-7 ;OR = 0.2953). 0.4 Connecting genetic risk to disease end points through the human blood plasma proteome. NCRV0000001453 25575512 NONHSAT208336.1 rs926657 ? N/A 1,376 old order amish individuals EFO_0000319 N/A Associate Lipoprotein (a) - cholesterol levels rs926657-? of NONHSAT208336.1 is significantly associated with the lipoprotein (a) - cholesterol levels by using GWAS analysis in 1,376 old order amish individuals(p-value = 5E-9 ;OR = ?). 0.4 Evidence for several independent genetic variants affecting lipoprotein (a) cholesterol levels. NCRV0000003011 25961943 NONHSAT179794.1 rs438811 T N/A up to 62,166 european ancestry individuals EFO_0000319 N/A Associate Triglycerides rs438811-T of NONHSAT179794.1 is significantly associated with the triglycerides by using GWAS analysis in up to 62,166 european ancestry individuals(p-value = 9E-37 ;OR = 0.096). 0.4 The impact of low-frequency and rare variants on lipid levels. NCRV0000001232 25673412 NONHSAT018519.2 rs6265 T N/A up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women EFO_0005093 N/A Associate Hip circumference rs6265-T of NONHSAT018519.2 is significantly associated with the hip circumference by using GWAS analysis in up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women(p-value = 1E-14 ;OR = 0.0343). 0.4 New genetic loci link adipose and insulin biology to body fat distribution. NCRV0000001927 23535033 NONHSAT185508.1 rs78022502 ? N/A 303 european ancestry cases; EFO_0000249 N/A Associate Alzheimer's disease (cognitive decline) rs78022502-? of NONHSAT185508.1 is significantly associated with the alzheimer's disease (cognitive decline) by using GWAS analysis in 303 european ancestry cases; (p-value = 2E-6 ;OR = 0.23). 0.4 Genome-wide association study of the rate of cognitive decline in Alzheimer's disease. NCRV0000003716 28540026 NONHSAT108925.2 rs9274390 T N/A up to 6,197 european ancestry asd cases//up to 7,377 european ancestry controls//up to 1,190 asd cases//up to 1,190 controls EFO_0003756 N/A Associate Autism spectrum disorder rs9274390-T of NONHSAT108925.2 is significantly associated with the autism spectrum disorder by using GWAS analysis in up to 6,197 european ancestry asd cases//up to 7,377 european ancestry controls//up to 1,190 asd cases//up to 1,190 controls(p-value = 2E-14 ;OR = 1.13). 0.4 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. NCRV0000003516 19197348 NONHSAT196500.1 rs2222328 C N/A 2,906 kosraen individuals EFO_0004342 N/A Associate Quantitative traits rs2222328-C of NONHSAT196500.1 is significantly associated with the quantitative traits by using GWAS analysis in 2,906 kosraen individuals(p-value = 8E-7 ;OR = 0.22). 0.4 Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae. NCRV0000000950 23704328 NONHSAT176513.1 rs8080944 A N/A 11,513 european ancestry individuals; GO_0042476 N/A Associate Primary tooth development (number of teeth) rs8080944-A of NONHSAT176513.1 is significantly associated with the primary tooth development (number of teeth) by using GWAS analysis in 11,513 european ancestry individuals; (p-value = 2E-19 ;OR = 0.221). 0.4 Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances. NCRV0000001497 27863252 NONHSAT015107.2 rs116052829 T N/A 164,339 european ancestry individuals EFO_0007985 N/A Associate Plateletcrit rs116052829-T of NONHSAT015107.2 is significantly associated with the plateletcrit by using GWAS analysis in 164,339 european ancestry individuals(p-value = 1E-10 ;OR = 0.03848108). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002221 26053186 NONHSAT208328.1 rs78995442 ? N/A 362 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//438 european ancestry current smoker individuals//449 latino current smoker individuals//704 japanese ancestry current smoker individuals EFO_0001071 in smokers Associate 3-hydroxypropylmercapturic acid levels in smokers rs78995442-? of NONHSAT208328.1 is significantly associated with the 3-hydroxypropylmercapturic acid levels in smokers by using GWAS analysis in 362 african american current smoker individuals//329 native hawaiian ancestry current smoker individuals//438 european ancestry current smoker individuals//449 latino current smoker individuals//704 japanese ancestry current smoker individuals(p-value = 5E-6 ;OR = 0.6532). 0.4 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. NCRV0000003446 28739976 NONHSAT176422.1 rs2240736 T N/A 150,134 european ancestry individuals; 87,359 european ancestry individuals//140,886 european and unknown ancestry individuals EFO_0000319 N/A Associate Systolic blood pressure rs2240736-T of NONHSAT176422.1 is significantly associated with the systolic blood pressure by using GWAS analysis in 150,134 european ancestry individuals; 87,359 european ancestry individuals//140,886 european and unknown ancestry individuals(p-value = 4E-6 ;OR = 0.389). 0.4 Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.LID - HYPERTENSIONAHA.117.09438 [pii]LID - 10.1161/HYPERTENSIONAHA.117.09438 [doi]AB - Elevated blood pressure NCRV0000002761 27989323 NONHSAT157442.1 rs72819454 C N/A 3,634 finnish ancestry individuals EFO_0005140 N/A Associate Interleukin-9 levels rs72819454-C of NONHSAT157442.1 is significantly associated with the interleukin-9 levels by using GWAS analysis in 3,634 finnish ancestry individuals(p-value = 8E-6 ;OR = 0.3325). 0.4 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. NCRV0000001792 23251661 NONHSAT212008.1 rs10232743 A N/A 815 hispanic children from 263 families EFO_0004887 N/A Associate Obesity-related traits rs10232743-A of NONHSAT212008.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 7E-6 ;OR = 0.04). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. NCRV0000000547 19079261 NONHSAT186577.1 rs6548238 C N/A 32,387 european ancestry individuals; 59,082 european ancestry individuals EFO_0001073 N/A Associate Body mass index rs6548238-C of NONHSAT186577.1 is significantly associated with the body mass index by using GWAS analysis in 32,387 european ancestry individuals; 59,082 european ancestry individuals(p-value = 1E-18 ;OR = 0.26). 0.4 Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. NCRV0000000981 25897833 NONHSAT207105.1 rs1055569 ? N/A up to 170 cases//5,200 controls EFO_0004720 N/A Associate Psychotic symptoms and prion disease rs1055569-? of NONHSAT207105.1 is significantly associated with the psychotic symptoms and prion disease by using GWAS analysis in up to 170 cases//5,200 controls(p-value = 3E-6 ;OR = 2.36). 0.4 Genome-wide association study of behavioural and psychiatric features in human prion disease. NCRV0000001041 24478790 NONHSAT125368.2 rs11787341 A N/A 4,829 european ancestry individuals from 586 families with exceptional longevity EFO_0004505 N/A Associate Telomere length rs11787341-A of NONHSAT125368.2 is significantly associated with the telomere length by using GWAS analysis in 4,829 european ancestry individuals from 586 families with exceptional longevity(p-value = 9E-7 ;OR = ?). 0.4 Genome wide association and linkage analyses identified three loci-4q25, 17q23.2, and 10q11.21-associated with variation in leukocyte telomere length: the Long Life Family Study. NCRV0000001144 25282103 NONHSAT151256.1 rs2806561 A N/A 253,288 european ancestry individuals; 80,067 european ancestry individuals EFO_0004339 N/A Associate Height rs2806561-A of NONHSAT151256.1 is significantly associated with the height by using GWAS analysis in 253,288 european ancestry individuals; 80,067 european ancestry individuals(p-value = 2E-20 ;OR = 0.027). 0.4 Defining the role of common variation in the genomic and biological architecture of adult human height. NCRV0000000311 25390645 NONHSAT148272.1 rs12120353 A N/A 324 african american cases//273 african american controls//757 european ancestry cases//940 european ancestry controls EFO_0006788 N/A Associate Anxiety disorder rs12120353-A of NONHSAT148272.1 is significantly associated with the anxiety disorder by using GWAS analysis in 324 african american cases//273 african american controls//757 european ancestry cases//940 european ancestry controls(p-value = 3E-6 ;OR = 2.13). 0.4 Genome-wide and gene-based association studies of anxiety disorders in European and African American samples. NCRV0000000511 26316170 NONHSAT207123.1 rs3129716 ? N/A 661 european ancestry cases//487 european ancestry controls; 4,467 european ancestry cases//9,114 european ancestry controls EFO_0002690 N/A Associate Systemic lupus erythematosus rs3129716-? of NONHSAT207123.1 is significantly associated with the systemic lupus erythematosus by using GWAS analysis in 661 european ancestry cases//487 european ancestry controls; 4,467 european ancestry cases//9,114 european ancestry controls(p-value = 4E-9 ;OR = ?). 0.4 Identification of a New Susceptibility Locus for Systemic Lupus Erythematosus on Chromosome 12 in Individuals of European Ancestry. NCRV0000003286 28604730 NONHSAT130430.2 rs62560775 G N/A 29,266 european ancestry cases//56,450 european ancestry controls EFO_0001071 N/A Associate Lung cancer rs62560775-G of NONHSAT130430.2 is significantly associated with the lung cancer by using GWAS analysis in 29,266 european ancestry cases//56,450 european ancestry controls(p-value = 6E-7 ;OR = 1.1056006). 0.4 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. NCRV0000001563 27197191 NONHSAT053287.2 rs12601991 T N/A 5,020 european ancestry lung cancer cases//3,718 european ancestry lung adenocarcinoma cases//3,422 european ancestry lung squamous cell carcinoma cases//15,414 european ancestry colorectal cancer cases//10,809 european ancestry breast cancer cases//4,939 european ancestry estrogen receptor negative breast cancer cases//1,098 european ancestry ovarian cancer cases//2,556 european ancestry serous ovarian cancer cases//715 european ancestry ovarian endometrioid carcinoma cases//9,710 european ancestry prostate cancer cases//4,450 european ancestry aggressive prostate cancer cases// 61,820 european ancestry controls EFO_0000311 N/A Associate Cancer rs12601991-T of NONHSAT053287.2 is significantly associated with the cancer by using GWAS analysis in 5,020 european ancestry lung cancer cases//3,718 european ancestry lung adenocarcinoma cases//3,422 european ancestry lung squamous cell carcinoma cases//15,414 european ancestry colorectal cancer cases//10,809 european ancestry breast cancer cases//4,939 european ancestry estrogen receptor negative breast cancer cases//1,098 european ancestry ovarian cancer cases//2,556 european ancestry serous ovarian cancer cases//715 european ancestry ovarian endometrioid carcinoma cases//9,710 european ancestry prostate cancer cases//4,450 european ancestry aggressive prostate cancer cases// 61,820 european ancestry controls(p-value = 1E-9 ;OR = 1.1). 0.4 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations. NCRV0000003087 27863252 NONHSAT179793.1 rs7412 T N/A 170,763 european ancestry individuals EFO_0007986 N/A Associate High light scatter reticulocyte count rs7412-T of NONHSAT179793.1 is significantly associated with the high light scatter reticulocyte count by using GWAS analysis in 170,763 european ancestry individuals(p-value = 1E-35 ;OR = 0.08121525). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002150 22959728 NONHSAT183890.1 rs1510510 ? N/A up to 4,243 european ancestry cases//up to 5,112 european ancestry controls EFO_0000253 N/A Associate Amyotrophic lateral sclerosis in c9orf72 mutation positive individuals rs1510510-? of NONHSAT183890.1 is significantly associated with the amyotrophic lateral sclerosis in c9orf72 mutation positive individuals by using GWAS analysis in up to 4,243 european ancestry cases//up to 5,112 european ancestry controls(p-value = 7E-6 ;OR = 1.3). 0.4 Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1. NCRV0000002155 27322543 NONHSAT158561.1 rs2223089 ? N/A 59,674 european ancestry cases//316,078 european ancestry controls EFO_0003821 N/A Associate Migraine rs2223089-? of NONHSAT158561.1 is significantly associated with the migraine by using GWAS analysis in 59,674 european ancestry cases//316,078 european ancestry controls(p-value = 3E-8 ;OR = 1.0752687). 0.4 Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine. NCRV0000001885 26198764 NONHSAT124866.2 rs2945232 C N/A 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls EFO_0000692 N/A Associate Schizophrenia rs2945232-C of NONHSAT124866.2 is significantly associated with the schizophrenia by using GWAS analysis in 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls(p-value = 2E-8 ;OR = 1.0638298). 0.4 Genome-wide association study of schizophrenia in Ashkenazi Jews. NCRV0000000912 28181694 NONHSAT078943.2 rs8115445 G N/A 488 european ancestry female children//445 european ancestry male children; 245 european ancestry female children//241 european ancestry male children EFO_0007621 N/A Associate Pediatric bone mineral content (radius) rs8115445-G of NONHSAT078943.2 is significantly associated with the pediatric bone mineral content (radius) by using GWAS analysis in 488 european ancestry female children//445 european ancestry male children; 245 european ancestry female children//241 european ancestry male children(p-value = 2E-6 ;OR = 0.255737). 0.4 A Genomewide Association Study Identifies Two Sex-Specific Loci, at SPTB and IZUMO3, Influencing Pediatric Bone Mineral Density at Multiple Skeletal Sites. NCRV0000000096 28429243 NONHSAT129504.2 rs6988985 C N/A 707 european ancestry postmenopausal cases//52 african ancestry postmenopausal cases//15 asian ancestry postmenopausal cases EFO_0007972 N/A Associate Plasma androstenedione levels in resected early stage-receptor positive breast cancer rs6988985-C of NONHSAT129504.2 is significantly associated with the plasma androstenedione levels in resected early stage-receptor positive breast cancer by using GWAS analysis in 707 european ancestry postmenopausal cases//52 african ancestry postmenopausal cases//15 asian ancestry postmenopausal cases(p-value = 7E-7 ;OR = 0.25). 0.4 SLCO1B1 polymorphisms and plasma estrone conjugates in postmenopausal women with ER+ breast cancer: genome-wide association studies of the estrone pathway. NCRV0000000070 27863252 NONHSAT004977.2 rs663045 C N/A 172,435 european ancestry individuals EFO_0004308 N/A Associate White blood cell count rs663045-C of NONHSAT004977.2 is significantly associated with the white blood cell count by using GWAS analysis in 172,435 european ancestry individuals(p-value = 6E-10 ;OR = 0.02226758). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001050 25187353 NONHSAT148900.1 rs11211480 G N/A 161 european ancestry cases//1,196 european ancestry clozapine-treated and untreated controls HP_0012235 N/A Associate Clozapine-induced agranulocytosis rs11211480-G of NONHSAT148900.1 is significantly associated with the clozapine-induced agranulocytosis by using GWAS analysis in 161 european ancestry cases//1,196 european ancestry clozapine-treated and untreated controls(p-value = 2E-6 ;OR = 1.9278966). 0.4 Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles. NCRV0000000779 27863252 NONHSAT175429.1 rs56378716 G N/A 169,822 european ancestry individuals EFO_0007987 N/A Associate Granulocyte count rs56378716-G of NONHSAT175429.1 is significantly associated with the granulocyte count by using GWAS analysis in 169,822 european ancestry individuals(p-value = 6E-17 ;OR = 0.1341307). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002599 27863252 NONHSAT175429.1 rs56378716 G N/A 169,219 european ancestry individuals EFO_0007988 N/A Associate Myeloid white cell count rs56378716-G of NONHSAT175429.1 is significantly associated with the myeloid white cell count by using GWAS analysis in 169,219 european ancestry individuals(p-value = 4E-17 ;OR = 0.1350727). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000302 25939597 NONHSAT194170.1 rs17023900 G N/A 4,600 european ancestry cases//2,941 european ancestry controls; 7,779 european ancestry cases//7,623 european ancestry controls EFO_0001663 N/A Associate Prostate cancer rs17023900-G of NONHSAT194170.1 is significantly associated with the prostate cancer by using GWAS analysis in 4,600 european ancestry cases//2,941 european ancestry controls; 7,779 european ancestry cases//7,623 european ancestry controls(p-value = 1E-11 ;OR = 1.26). 0.4 Two susceptibility loci identified for prostate cancer aggressiveness. NCRV0000003883 28008999 NONHSAT003779.2 rs11209026 ? N/A 622 polish ancestry child cases//496 polish ancestry adult cases//582 polish ancestry controls; 192 polish ancestry child cases//185 polish ancestry adult cases//352 polish ancestry controls EFO_0003767 N/A Associate Inflammatory bowel disease rs11209026-? of NONHSAT003779.2 is significantly associated with the inflammatory bowel disease by using GWAS analysis in 622 polish ancestry child cases//496 polish ancestry adult cases//582 polish ancestry controls; 192 polish ancestry child cases//185 polish ancestry adult cases//352 polish ancestry controls(p-value = 2E-6 ;OR = 2.169659). 0.4 Genetic architecture differences between pediatric and adult-onset inflammatory bowel diseases in the Polish population. NCRV0000001382 24376456 NONHSAT154717.1 rs16849553 C N/A up to 6,882 individuals EFO_0006340 alcohol consumption interaction Associate Mean arterial pressure (alcohol consumption interaction) rs16849553-C of NONHSAT154717.1 is significantly associated with the mean arterial pressure (alcohol consumption interaction) by using GWAS analysis in up to 6,882 individuals(p-value = 7E-7 ;OR = 1.452). 0.4 Gene-alcohol interactions identify several novel blood pressure loci including a promising locus near SLC16A9. NCRV0000000625 22829776 NONHSAT161941.1 rs4149056 T N/A 21,791 european ancestry individuals; 8,175 european ancestry individuals EFO_0004696 N/A Associate Sex hormone-binding globulin levels rs4149056-T of NONHSAT161941.1 is significantly associated with the sex hormone-binding globulin levels by using GWAS analysis in 21,791 european ancestry individuals; 8,175 european ancestry individuals(p-value = 2E-8 ;OR = 0.029). 0.4 A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation. NCRV0000000542 23496005 NONHSAT164337.1 rs12425451 ? N/A 585 european ancestry cases; 387 european ancestry cases EFO_0000614 N/A Associate Narcolepsy with cataplexy rs12425451-? of NONHSAT164337.1 is significantly associated with the narcolepsy with cataplexy by using GWAS analysis in 585 european ancestry cases; 387 european ancestry cases(p-value = 2E-7 ;OR = 6.7866). 0.4 Clinical, polysomnographic and genome-wide association analyses of narcolepsy with cataplexy: a European Narcolepsy Network study. NCRV0000002959 27863252 NONHSAT167237.1 rs1887639 C N/A 170,721 european ancestry individuals EFO_0005091 N/A Associate Monocyte count rs1887639-C of NONHSAT167237.1 is significantly associated with the monocyte count by using GWAS analysis in 170,721 european ancestry individuals(p-value = 4E-11 ;OR = 0.02382637). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001043 20173747 NONHSAT198931.1 rs6843082 G N/A 1,335 european ancestry cases//12,844 european ancestry controls; 1,164 european ancestry cases//3,607 european ancestry controls EFO_0000275 N/A Associate Atrial fibrillation rs6843082-G of NONHSAT198931.1 is significantly associated with the atrial fibrillation by using GWAS analysis in 1,335 european ancestry cases//12,844 european ancestry controls; 1,164 european ancestry cases//3,607 european ancestry controls(p-value = 3E-28 ;OR = 2.03). 0.4 Common variants in KCNN3 are associated with lone atrial fibrillation. NCRV0000002235 28869590 NONHSAT200935.1 rs4689388 A N/A 6,353 south asian ancestry cases//7,179 south asian ancestry controls//3,871 european ancestry cases//16,427 european ancestry controls//34,840 cases//114,981 controls; 7,888 south asian ancestry cases//20,679 south asian ancestry controls//387 european ancestry cases//2,092 european ancestry controls//19,998 east asian ancestry cases//30,983 east asian ancestry controls EFO_0001360 N/A Associate Type 2 diabetes rs4689388-A of NONHSAT200935.1 is significantly associated with the type 2 diabetes by using GWAS analysis in 6,353 south asian ancestry cases//7,179 south asian ancestry controls//3,871 european ancestry cases//16,427 european ancestry controls//34,840 cases//114,981 controls; 7,888 south asian ancestry cases//20,679 south asian ancestry controls//387 european ancestry cases//2,092 european ancestry controls//19,998 east asian ancestry cases//30,983 east asian ancestry controls(p-value = 1E-15 ;OR = 0.075). 0.4 Identification of new susceptibility loci for type 2 diabetes and shared etiological pathways with coronary heart disease. NCRV0000000498 27863252 NONHSAT148900.1 rs11211480 G N/A 172,332 european ancestry individuals EFO_0004527 N/A Associate Mean corpuscular hemoglobin rs11211480-G of NONHSAT148900.1 is significantly associated with the mean corpuscular hemoglobin by using GWAS analysis in 172,332 european ancestry individuals(p-value = 8E-17 ;OR = 0.02955099). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002240 26708285 NONHSAT101414.2 rs16880442 G N/A 2,563 saudi arab ancestry cases//1,868 saudi arab ancestry controls; 866 saudi arab ancestry cases//371 saudi arab ancestry controls EFO_0000612 N/A Associate Myocardial infarction rs16880442-G of NONHSAT101414.2 is significantly associated with the myocardial infarction by using GWAS analysis in 2,563 saudi arab ancestry cases//1,868 saudi arab ancestry controls; 866 saudi arab ancestry cases//371 saudi arab ancestry controls(p-value = 2E-8 ;OR = 1.4084507). 0.4 A genome-wide association study reveals susceptibility loci for myocardial infarction/coronary artery disease in Saudi Arabs. NCRV0000003555 27723756 NONHSAT159782.1 rs7113056 C N/A 1,812 european ancestry individuals EFO_0007874 bacterial taxa Associate Gut microbiota (bacterial taxa) rs7113056-C of NONHSAT159782.1 is significantly associated with the gut microbiota (bacterial taxa) by using GWAS analysis in 1,812 european ancestry individuals(p-value = 2E-13 ;OR = 0.5). 0.4 Genome-wide association analysis identifies variation in vitamin D receptor and other host factors influencing the gut microbiota. NCRV0000002958 25317112 NONHSAT191800.1 rs11088226 G N/A 977 korean ancestry female cases//3,622 korean ancestry female controls//804 korean ancestry male cases//3,335 korean ancestry male controls EFO_0000217 N/A Associate Gastritis rs11088226-G of NONHSAT191800.1 is significantly associated with the gastritis by using GWAS analysis in 977 korean ancestry female cases//3,622 korean ancestry female controls//804 korean ancestry male cases//3,335 korean ancestry male controls(p-value = 4E-6 ;OR = 1.3). 0.4 Epidemiological and genome-wide association study of gastritis or gastric ulcer in korean populations. NCRV0000000065 22885922 NONHSAT152910.1 rs2075423 G N/A 6,377 european ancestry male cases//5,794 european ancestry female cases//22,243 european ancestry male controls//34,619 european ancestry female controls; 12,938 european ancestry male cases//8,553 european ancestry female cases//904 pakistani ancestry male cases//274 pakistani ancestry female cases//30,273 european ancestry male controls//25,374 european ancestry female controls//2,088 pakistani ancestry male controls//384 pakistani ancestry female controls EFO_0001360 N/A Associate Type 2 diabetes rs2075423-G of NONHSAT152910.1 is significantly associated with the type 2 diabetes by using GWAS analysis in 6,377 european ancestry male cases//5,794 european ancestry female cases//22,243 european ancestry male controls//34,619 european ancestry female controls; 12,938 european ancestry male cases//8,553 european ancestry female cases//904 pakistani ancestry male cases//274 pakistani ancestry female cases//30,273 european ancestry male controls//25,374 european ancestry female controls//2,088 pakistani ancestry male controls//384 pakistani ancestry female controls(p-value = 8E-9 ;OR = 1.07). 0.4 Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. NCRV0000000413 27863252 NONHSAT207279.1 rs16895831 T N/A 170,494 european ancestry individuals EFO_0007989 N/A Associate Monocyte percentage of white cells rs16895831-T of NONHSAT207279.1 is significantly associated with the monocyte percentage of white cells by using GWAS analysis in 170,494 european ancestry individuals(p-value = 3E-10 ;OR = 0.02809162). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003254 21302353 NONHSAT202627.1 rs1844437 C N/A 3,304 european ancestry individuals EFO_0004242 N/A Associate Hoarding rs1844437-C of NONHSAT202627.1 is significantly associated with the hoarding by using GWAS analysis in 3,304 european ancestry individuals(p-value = 2E-6 ;OR = 0.62). 0.4 Genome-wide association study of hoarding traits. NCRV0000002495 23459936 NONHSAT119567.2 rs2521634 ? N/A 4,504 european ancestry individuals; 656 european ancestry and african american individuals EFO_0000649 N/A Associate Periodontitis rs2521634-? of NONHSAT119567.2 is significantly associated with the periodontitis by using GWAS analysis in 4,504 european ancestry individuals; 656 european ancestry and african american individuals(p-value = 4E-7 ;OR = 1.49). 0.4 Exploring the genetic basis of chronic periodontitis: a genome-wide association study. NCRV0000000375 28017375 NONHSAT184699.1 rs13027161 ? N/A up to 29,946 european ancestry individuals//up to 6150 african american individuals//15,074 east asian individuals.; 16,389 individuals of european and african american ancestry. EFO_0004526 N/A Associate Mean corpuscular volume rs13027161-? of NONHSAT184699.1 is significantly associated with the mean corpuscular volume by using GWAS analysis in up to 29,946 european ancestry individuals//up to 6150 african american individuals//15,074 east asian individuals.; 16,389 individuals of european and african american ancestry.(p-value = 3E-12 ;OR = ?). 0.4 Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis. NCRV0000003766 26192919 NONHSAT191834.1 rs2836878 A N/A 5,956 european ancestry cases//14,927 european ancestry controls; 14,594 european ancestry cases//26,715 european ancestry controls//151 iranian ancestry cases//342 iranian ancestry controls//184 indian ancestry cases//990 indian ancestry controls//1,690 east asian ancestry cases//3,719 east asian ancestry controls EFO_0000384 N/A Associate Crohn's disease rs2836878-A of NONHSAT191834.1 is significantly associated with the crohn's disease by using GWAS analysis in 5,956 european ancestry cases//14,927 european ancestry controls; 14,594 european ancestry cases//26,715 european ancestry controls//151 iranian ancestry cases//342 iranian ancestry controls//184 indian ancestry cases//990 indian ancestry controls//1,690 east asian ancestry cases//3,719 east asian ancestry controls(p-value = 5E-15 ;OR = 1.114705). 0.4 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. NCRV0000001680 18193044 NONHSAT215498.1 rs328 G N/A 2,758 individuals; 18,544 individuals EFO_0000319 N/A Associate Hdl cholesterol rs328-G of NONHSAT215498.1 is significantly associated with the hdl cholesterol by using GWAS analysis in 2,758 individuals; 18,544 individuals(p-value = 9E-23 ;OR = 0.17). 0.4 Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans. NCRV0000003561 29213071 NONHSAT183231.1 rs13413665 T N/A 15,997 hispanic/latino individuals EFO_0004278 N/A Associate Qt interval rs13413665-T of NONHSAT183231.1 is significantly associated with the qt interval by using GWAS analysis in 15,997 hispanic/latino individuals(p-value = 3E-6 ;OR = 3.36). 0.4 GWAS of the electrocardiographic QT interval in Hispanics/Latinos generalizes previously identified loci and identifies population-specific signals. NCRV0000001641 26460308 NONHSAT206292.1 rs7712513 C N/A 852 european ancestry cases; 685 european ancestry cases EFO_0000403 treated with immunochemotherapy Associate Event free survival in diffuse large b-cell lymphoma treated with immunochemotherapy rs7712513-C of NONHSAT206292.1 is significantly associated with the event free survival in diffuse large b-cell lymphoma treated with immunochemotherapy by using GWAS analysis in 852 european ancestry cases; 685 european ancestry cases(p-value = 2E-7 ;OR = 1.39). 0.4 Genome-Wide Association Study of Event-Free Survival in Diffuse Large B-Cell Lymphoma Treated With Immunochemotherapy. NCRV0000000977 28453575 NONHSAT010798.2 rs3811444 T N/A 12,502 hispanic/latino individuals; 4,772 hispanic/latino individuals EFO_0004526 N/A Associate Mean corpuscular volume rs3811444-T of NONHSAT010798.2 is significantly associated with the mean corpuscular volume by using GWAS analysis in 12,502 hispanic/latino individuals; 4,772 hispanic/latino individuals(p-value = 4E-6 ;OR = 0.382). 0.4 Genome-wide association study of red blood cell traits in Hispanics/Latinos: The Hispanic Community Health Study/Study of Latinos. NCRV0000003544 27863252 NONHSAT199163.1 rs4835473 T N/A 170,548 european ancestry individuals EFO_0007986 N/A Associate Immature fraction of reticulocytes rs4835473-T of NONHSAT199163.1 is significantly associated with the immature fraction of reticulocytes by using GWAS analysis in 170,548 european ancestry individuals(p-value = 1E-41 ;OR = 0.05190101). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000107 23446634 NONHSAT139199.2 rs1050828 T N/A up to 16,485 african american individuals; 9,692 african american individuals//21,020 european ancestry individuals//14,088 japanese ancestry individuals EFO_0004305 N/A Associate Red blood cell traits rs1050828-T of NONHSAT139199.2 is significantly associated with the red blood cell traits by using GWAS analysis in up to 16,485 african american individuals; 9,692 african american individuals//21,020 european ancestry individuals//14,088 japanese ancestry individuals(p-value = 4E-19 ;OR = 0.108). 0.4 Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network. NCRV0000001725 29059683 NONHSAT076862.2 rs11693806 G N/A 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls EFO_0000305 N/A Associate Breast cancer rs11693806-G of NONHSAT076862.2 is significantly associated with the breast cancer by using GWAS analysis in 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls(p-value = 3E-26 ;OR = 0.0739). 0.4 Association analysis identifies 65 new breast cancer risk loci. NCRV0000001809 24529757 NONHSAT198840.1 rs13133845 ? N/A 250 han chinese ancestry cases//250 han chinese ancestry controls EFO_0001357 N/A Associate Amyotrophic lateral sclerosis (sporadic) rs13133845-? of NONHSAT198840.1 is significantly associated with the amyotrophic lateral sclerosis (sporadic) by using GWAS analysis in 250 han chinese ancestry cases//250 han chinese ancestry controls(p-value = 6E-6 ;OR = ?). 0.4 Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations. NCRV0000000725 20041166 NONHSAT207105.1 rs2395029 ? N/A 2,362 european ancestry cases EFO_0000180 N/A Associate Hiv-1 control rs2395029-? of NONHSAT207105.1 is significantly associated with the hiv-1 control by using GWAS analysis in 2,362 european ancestry cases(p-value = 1E-11 ;OR = ?). 0.4 Common genetic variation and the control of HIV-1 in humans. NCRV0000000254 23118302 NONHSAT179794.1 rs445925 T N/A 6,851 european ancestry individuals; 13,664 european ancestry individuals EFO_0000319 N/A Associate Lipoprotein-associated phospholipase a2 activity and mass rs445925-T of NONHSAT179794.1 is significantly associated with the lipoprotein-associated phospholipase a2 activity and mass by using GWAS analysis in 6,851 european ancestry individuals; 13,664 european ancestry individuals(p-value = 1E-56 ;OR = 0.071). 0.4 Genome-wide association study evaluating lipoprotein-associated phospholipase A2 mass and activity at baseline and after rosuvastatin therapy. NCRV0000003581 17903292 NONHSAT190812.1 rs9305354 ? N/A 822 individuals EFO_0004285 N/A Associate Urinary albumin excretion rs9305354-? of NONHSAT190812.1 is significantly associated with the urinary albumin excretion by using GWAS analysis in 822 individuals(p-value = 8E-6 ;OR = ?). 0.4 A genome-wide association for kidney function and endocrine-related traits in the NHLBI's Framingham Heart Study. NCRV0000002033 23897914 NONHSAT172132.1 rs10162694 A N/A 117 african american newborn cases//108 african american newborn controls//448 hispanic newborn cases//460 hispanic newborn controls//74 asian or pacific islander ancestry newborn cases//93 asian or pacific islander ancestry newborn controls//174 european ancestry newborn cases//216 european ancestry newborn controls//14 newborn cases//22 newborn controls; 371 newborn cases//424 newborn controls Orphanet_70589 N/A Associate Bronchopulmonary dysplasia rs10162694-A of NONHSAT172132.1 is significantly associated with the bronchopulmonary dysplasia by using GWAS analysis in 117 african american newborn cases//108 african american newborn controls//448 hispanic newborn cases//460 hispanic newborn controls//74 asian or pacific islander ancestry newborn cases//93 asian or pacific islander ancestry newborn controls//174 european ancestry newborn cases//216 european ancestry newborn controls//14 newborn cases//22 newborn controls; 371 newborn cases//424 newborn controls(p-value = 9E-6 ;OR = 1.55). 0.4 A genome-wide association study (GWAS) for bronchopulmonary dysplasia. NCRV0000001087 28604730 NONHSAT210414.1 rs210191 G N/A 29,266 european ancestry cases//56,450 european ancestry controls EFO_0001071 N/A Associate Lung cancer rs210191-G of NONHSAT210414.1 is significantly associated with the lung cancer by using GWAS analysis in 29,266 european ancestry cases//56,450 european ancestry controls(p-value = 9E-6 ;OR = 1.237917). 0.4 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. NCRV0000000434 27863252 NONHSAT180721.1 rs74929147 A N/A 172,433 european ancestry individuals EFO_0004526 N/A Associate Mean corpuscular volume rs74929147-A of NONHSAT180721.1 is significantly associated with the mean corpuscular volume by using GWAS analysis in 172,433 european ancestry individuals(p-value = 4E-13 ;OR = 0.05570995). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003201 27863252 NONHSAT180721.1 rs74929147 A N/A 172,332 european ancestry individuals EFO_0004527 N/A Associate Mean corpuscular hemoglobin rs74929147-A of NONHSAT180721.1 is significantly associated with the mean corpuscular hemoglobin by using GWAS analysis in 172,332 european ancestry individuals(p-value = 1E-10 ;OR = 0.04950154). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002481 27863252 NONHSAT175429.1 rs56378716 G N/A 171,542 european ancestry individuals EFO_0007990 N/A Associate Neutrophil percentage of white cells rs56378716-G of NONHSAT175429.1 is significantly associated with the neutrophil percentage of white cells by using GWAS analysis in 171,542 european ancestry individuals(p-value = 2E-15 ;OR = 0.1262833). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002404 26584805 NONHSAT189294.1 rs2206405 T N/A 717 singaporean chinese ancestry myocardial infarction cases//644 singaporean chinese ancestry controls EFO_0000319 N/A Associate Plasma omega-6 polyunsaturated fatty acid levels (gamma-linolenic acid) rs2206405-T of NONHSAT189294.1 is significantly associated with the plasma omega-6 polyunsaturated fatty acid levels (gamma-linolenic acid) by using GWAS analysis in 717 singaporean chinese ancestry myocardial infarction cases//644 singaporean chinese ancestry controls(p-value = 1E-6 ;OR = 0.1241). 0.4 A genome-wide association study of n-3 and n-6 plasma fatty acids in a Singaporean Chinese population. NCRV0000003386 27918536 NONHSAT192941.1 rs9611519 T N/A 122,867 european ancestry individuals; 137,994 european ancestry individuals EFO_0007660 N/A Associate Neuroticism rs9611519-T of NONHSAT192941.1 is significantly associated with the neuroticism by using GWAS analysis in 122,867 european ancestry individuals; 137,994 european ancestry individuals(p-value = 9E-9 ;OR = 0.053). 0.4 Genome-wide analyses for personality traits identify six genomic loci and show correlations with psychiatric disorders. NCRV0000002808 28928442 NONHSAT203945.1 rs74703333 ? N/A 6,812 european ancestry cases//113,837 european ancestry controls EFO_0008409 N/A Associate Scarlet fever rs74703333-? of NONHSAT203945.1 is significantly associated with the scarlet fever by using GWAS analysis in 6,812 european ancestry cases//113,837 european ancestry controls(p-value = 3E-6 ;OR = 1.939). 0.4 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. NCRV0000003661 27028160 NONHSAT095826.2 rs73252553 A N/A up to 6,000 african american ancestry individuals//8,754 european ancestry individuals; at least 1,893 european ancestry individuals EFO_0008457 N/A Associate Cannabis dependence symptom count rs73252553-A of NONHSAT095826.2 is significantly associated with the cannabis dependence symptom count by using GWAS analysis in up to 6,000 african american ancestry individuals//8,754 european ancestry individuals; at least 1,893 european ancestry individuals(p-value = 5E-6 ;OR = ?). 0.4 Genome-wide Association Study of Cannabis Dependence Severity, Novel Risk Variants, and Shared Genetic Risks. NCRV0000003502 27770636 NONHSAT189188.1 rs147597631 T N/A 1,825 african american ancestry cases//3,784 african american ancestry controls; EFO_1001870 N/A Associate Late-onset alzheimer's disease rs147597631-T of NONHSAT189188.1 is significantly associated with the late-onset alzheimer's disease by using GWAS analysis in 1,825 african american ancestry cases//3,784 african american ancestry controls; (p-value = 2E-6 ;OR = 0.18). 0.4 Two novel loci, COBL and SLC10A2, for Alzheimer's disease in African Americans. NCRV0000000819 18391951 NONHSAT172375.1 rs2554380 T N/A 30,968 european ancestry individuals; 8,541 european ancestry individuals EFO_0004339 N/A Associate Height rs2554380-T of NONHSAT172375.1 is significantly associated with the height by using GWAS analysis in 30,968 european ancestry individuals; 8,541 european ancestry individuals(p-value = 9E-7 ;OR = 4.5). 0.4 Many sequence variants affecting diversity of adult human height. NCRV0000002832 27863252 NONHSAT217884.1 rs7826487 G N/A 171,846 european ancestry individuals EFO_0005090 N/A Associate White blood cell count (basophil) rs7826487-G of NONHSAT217884.1 is significantly associated with the white blood cell count (basophil) by using GWAS analysis in 171,846 european ancestry individuals(p-value = 2E-14 ;OR = 0.04210421). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001511 27863252 NONHSAT217884.1 rs7826487 G N/A 170,721 european ancestry individuals EFO_0005091 N/A Associate Monocyte count rs7826487-G of NONHSAT217884.1 is significantly associated with the monocyte count by using GWAS analysis in 170,721 european ancestry individuals(p-value = 7E-17 ;OR = 0.04697075). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000685 22832960 NONHSAT200428.1 rs987360 T N/A up to 12,433 european ancestry individuals EFO_0004825 N/A Associate Temperament rs987360-T of NONHSAT200428.1 is significantly associated with the temperament by using GWAS analysis in up to 12,433 european ancestry individuals(p-value = 2E-6 ;OR = 0.27). 0.4 A genome-wide meta-analysis of association studies of Cloninger's Temperament Scales. NCRV0000003374 27863252 NONHSAT217648.1 rs1982094 T N/A 172,435 european ancestry individuals EFO_0004308 N/A Associate White blood cell count rs1982094-T of NONHSAT217648.1 is significantly associated with the white blood cell count by using GWAS analysis in 172,435 european ancestry individuals(p-value = 8E-15 ;OR = 0.07033336). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002100 28334899 NONHSAT179413.1 rs2278236 A N/A 34,930 east asian ancestry individuals//187,167 european ancestry individuals; 8,741 chinese ancestry individuals EFO_0000319 N/A Associate Hdl cholesterol levels rs2278236-A of NONHSAT179413.1 is significantly associated with the hdl cholesterol levels by using GWAS analysis in 34,930 east asian ancestry individuals//187,167 european ancestry individuals; 8,741 chinese ancestry individuals(p-value = 1E-16 ;OR = 0.0331). 0.4 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels. NCRV0000001242 27863252 NONHSAT207279.1 rs16895831 T N/A 171,542 european ancestry individuals EFO_0007990 N/A Associate Neutrophil percentage of white cells rs16895831-T of NONHSAT207279.1 is significantly associated with the neutrophil percentage of white cells by using GWAS analysis in 171,542 european ancestry individuals(p-value = 2E-10 ;OR = 0.02848855). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002865 20668430 NONHSAT192870.1 rs2239785 G N/A 56 african american cases//61 european ancestry cases//1,759 african american controls//1,531 european ancestry controls; 299 european ancestry cases EFO_0004236 N/A Associate Glomerulosclerosis rs2239785-G of NONHSAT192870.1 is significantly associated with the glomerulosclerosis by using GWAS analysis in 56 african american cases//61 european ancestry cases//1,759 african american controls//1,531 european ancestry controls; 299 european ancestry cases(p-value = 5E-13 ;OR = ?). 0.4 A risk allele for focal segmental glomerulosclerosis in African Americans is located within a region containing APOL1 and MYH9. NCRV0000003701 27863252 NONHSAT003744.2 rs1892534 T N/A 169,822 european ancestry individuals EFO_0007987 N/A Associate Granulocyte count rs1892534-T of NONHSAT003744.2 is significantly associated with the granulocyte count by using GWAS analysis in 169,822 european ancestry individuals(p-value = 4E-37 ;OR = 0.04711612). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003723 27863252 NONHSAT207279.1 rs16895831 T N/A 172,378 european ancestry individuals EFO_0007991 N/A Associate Eosinophil percentage of white cells rs16895831-T of NONHSAT207279.1 is significantly associated with the eosinophil percentage of white cells by using GWAS analysis in 172,378 european ancestry individuals(p-value = 3E-12 ;OR = 0.0312655). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003305 27863252 NONHSAT003744.2 rs1892534 T N/A 169,219 european ancestry individuals EFO_0007988 N/A Associate Myeloid white cell count rs1892534-T of NONHSAT003744.2 is significantly associated with the myeloid white cell count by using GWAS analysis in 169,219 european ancestry individuals(p-value = 8E-36 ;OR = 0.04634622). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003874 27863252 NONHSAT207279.1 rs16895831 T N/A 170,672 european ancestry individuals EFO_0007994 N/A Associate Neutrophil percentage of granulocytes rs16895831-T of NONHSAT207279.1 is significantly associated with the neutrophil percentage of granulocytes by using GWAS analysis in 170,672 european ancestry individuals(p-value = 2E-12 ;OR = 0.0315432). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000000495 27863252 NONHSAT207279.1 rs16895831 T N/A 170,536 european ancestry individuals EFO_0007996 N/A Associate Eosinophil percentage of granulocytes rs16895831-T of NONHSAT207279.1 is significantly associated with the eosinophil percentage of granulocytes by using GWAS analysis in 170,536 european ancestry individuals(p-value = 1E-13 ;OR = 0.03316487). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002546 27863252 NONHSAT207279.1 rs16895831 T N/A 169,545 european ancestry individuals EFO_0007997 N/A Associate Granulocyte percentage of myeloid white cells rs16895831-T of NONHSAT207279.1 is significantly associated with the granulocyte percentage of myeloid white cells by using GWAS analysis in 169,545 european ancestry individuals(p-value = 7E-12 ;OR = 0.0306608). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003949 18464913 NONHSAT175903.1 rs6761 ? N/A 1,200 european ancestry individuals; up to 4,590 european ancestry individuals EFO_0004696 N/A Associate Protein quantitative trait loci rs6761-? of NONHSAT175903.1 is significantly associated with the protein quantitative trait loci by using GWAS analysis in 1,200 european ancestry individuals; up to 4,590 european ancestry individuals(p-value = 3E-7 ;OR = ?). 0.4 A genome-wide association study identifies protein quantitative trait loci (pQTLs). NCRV0000001726 27089181 NONHSAT178381.1 rs1557341 A N/A 170,911 european ancestry individuals EFO_0007660 N/A Associate Neuroticism rs1557341-A of NONHSAT178381.1 is significantly associated with the neuroticism by using GWAS analysis in 170,911 european ancestry individuals(p-value = 6E-9 ;OR = 0.021337654). 0.4 Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses. NCRV0000000184 25673413 NONHSAT004062.2 rs12401738 A N/A up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals EFO_0001073 N/A Associate Body mass index rs12401738-A of NONHSAT004062.2 is significantly associated with the body mass index by using GWAS analysis in up to 104,666 european ancestry male individuals//up to 132,115 european ancestry female individuals//370 african american male individuals//517 african american female individuals//512 hispanic male individuals//764 hispanic female individuals; up to 48,274 european ancestry male individuals//up to 39,864 european ancestry female individuals//2,441 african american or afro-caribbean male individuals//6,314 african american or afro-caribbean female individuals//919 filipino male individuals//828 filipino female individuals//205 seychelles male individuals//287 seychelles female individuals//2,964 south asian ancestry male individuals//658 south asian ancestry female individuals(p-value = 2E-10 ;OR = 0.02). 0.4 Genetic studies of body mass index yield new insights for obesity biology. NCRV0000003718 20881960 NONHSAT053365.2 rs1043515 A N/A 133,653 european ancestry individuals; 50,074 european ancestry individuals EFO_0004339 N/A Associate Height rs1043515-A of NONHSAT053365.2 is significantly associated with the height by using GWAS analysis in 133,653 european ancestry individuals; 50,074 european ancestry individuals(p-value = 3E-10 ;OR = 0.023). 0.4 Hundreds of variants clustered in genomic loci and biological pathways affect human height. NCRV0000000487 28115739 NONHSAT195091.1 rs4438643 G N/A 1,027 european american cases//383 african american cases EFO_0005611 N/A Associate Methadone dose in opioid dependence rs4438643-G of NONHSAT195091.1 is significantly associated with the methadone dose in opioid dependence by using GWAS analysis in 1,027 european american cases//383 african american cases(p-value = 7E-6 ;OR = 0.2085). 0.4 Genome-wide association study of therapeutic opioid dosing identifies a novel locus upstream of OPRM1. NCRV0000000573 22864923 NONHSAT174827.1 rs3803800 ? N/A 1,999 han chinese ancestry male individuals; 1,496 east asian ancestry male individuals EFO_0004194 N/A Associate Iga levels rs3803800-? of NONHSAT174827.1 is significantly associated with the iga levels by using GWAS analysis in 1,999 han chinese ancestry male individuals; 1,496 east asian ancestry male individuals(p-value = 3E-7 ;OR = ?). 0.4 Genome-wide association study identifies TNFSF13 as a susceptibility gene for IgA in a South Chinese population in smokers. NCRV0000002437 21294900 NONHSAT195850.1 rs6549373 T N/A 1,017 african american individuals EFO_0004761 N/A Associate Uric acid levels rs6549373-T of NONHSAT195850.1 is significantly associated with the uric acid levels by using GWAS analysis in 1,017 african american individuals(p-value = 2E-6 ;OR = 0.349). 0.4 A genome-wide association study of serum uric acid in African Americans. NCRV0000001418 28754176 NONHSAT041529.2 rs3817591 ? N/A 390 mexican children//490 bangladeshi children EFO_0008237 N/A Associate Motor development (prenatal lead exposure interaction) rs3817591-? of NONHSAT041529.2 is significantly associated with the motor development (prenatal lead exposure interaction) by using GWAS analysis in 390 mexican children//490 bangladeshi children(p-value = 1E-6 ;OR = ?). 0.4 Genome-wide gene by lead exposure interaction analysis identifies UNC5D as a candidate gene for neurodevelopment. NCRV0000003340 21801394 NONHSAT108734.2 rs3094188 A N/A 424 european ancestry cases//1,881 european ancestry controls EFO_0004276 N/A Associate Drug-induced stevens-johnson syndrome or toxic epidermal necrolysis (sjs/ten) rs3094188-A of NONHSAT108734.2 is significantly associated with the drug-induced stevens-johnson syndrome or toxic epidermal necrolysis (sjs/ten) by using GWAS analysis in 424 european ancestry cases//1,881 european ancestry controls(p-value = 3E-8 ;OR = 1.59). 0.4 Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe. NCRV0000001351 28346442 NONHSAT075637.2 rs711830 A N/A 2,966 european ancestry cases//40,941 european ancestry controls EFO_1001516 N/A Associate High-grade serous ovarian cancer rs711830-A of NONHSAT075637.2 is significantly associated with the high-grade serous ovarian cancer by using GWAS analysis in 2,966 european ancestry cases//40,941 european ancestry controls(p-value = 8E-13 ;OR = 1.1268522). 0.4 Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer. NCRV0000003010 27863252 NONHSAT073752.2 rs7563124 A N/A 173,039 european ancestry individuals EFO_0004348 N/A Associate Hematocrit rs7563124-A of NONHSAT073752.2 is significantly associated with the hematocrit by using GWAS analysis in 173,039 european ancestry individuals(p-value = 8E-20 ;OR = 0.03930806). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002362 22423221 NONHSAT180207.1 rs8109288 G N/A 16,388 african american individuals EFO_0004584 N/A Associate Mean platelet volume rs8109288-G of NONHSAT180207.1 is significantly associated with the mean platelet volume by using GWAS analysis in 16,388 african american individuals(p-value = 3E-9 ;OR = 0.26). 0.4 A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans. NCRV0000003971 25342443 NONHSAT190100.1 rs6104691 A N/A 7,600 european ancestry individuals; 343 european ancestry individuals//1,472 old order amish individuals//8,564 individuals EFO_0006503 N/A Associate Mammographic density (dense area) rs6104691-A of NONHSAT190100.1 is significantly associated with the mammographic density (dense area) by using GWAS analysis in 7,600 european ancestry individuals; 343 european ancestry individuals//1,472 old order amish individuals//8,564 individuals(p-value = 1E-6 ;OR = ?). 0.4 Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk. NCRV0000000708 26584805 NONHSAT038090.2 rs746629 T N/A 717 singaporean chinese ancestry myocardial infarction cases//644 singaporean chinese ancestry controls EFO_0000319 N/A Associate Plasma omega-6 polyunsaturated fatty acid levels (linoleic acid) rs746629-T of NONHSAT038090.2 is significantly associated with the plasma omega-6 polyunsaturated fatty acid levels (linoleic acid) by using GWAS analysis in 717 singaporean chinese ancestry myocardial infarction cases//644 singaporean chinese ancestry controls(p-value = 2E-6 ;OR = 0.0237). 0.4 A genome-wide association study of n-3 and n-6 plasma fatty acids in a Singaporean Chinese population. NCRV0000002134 21782286 NONHSAT186492.1 rs10202497 C N/A 16,995 european ancestry individuals GO_0007568 N/A Associate Aging (time to event) rs10202497-C of NONHSAT186492.1 is significantly associated with the aging (time to event) by using GWAS analysis in 16,995 european ancestry individuals(p-value = 8E-6 ;OR = 1.12). 0.4 A genome-wide association study of aging. NCRV0000001224 24189344 NONHSAT152129.1 rs6537825 A N/A 275 chinese ancestry cases and 550 chinese ancestry controls from 275 trios//136 chinese ancestry cases//984 chinese ancestry controls; 1,299 european ancestry cases and 2,598 european ancestry controls from 1,299 trios EFO_0003756 N/A Associate Autism rs6537825-A of NONHSAT152129.1 is significantly associated with the autism by using GWAS analysis in 275 chinese ancestry cases and 550 chinese ancestry controls from 275 trios//136 chinese ancestry cases//984 chinese ancestry controls; 1,299 european ancestry cases and 2,598 european ancestry controls from 1,299 trios(p-value = 3E-8 ;OR = 1.4). 0.4 Common genetic variants on 1p13.2 associate with risk of autism. NCRV0000003284 21383967 NONHSAT217631.1 rs975730 ? N/A 4,533 european ancestry celiac disease cases//5,539 european ancestry rheumatoid arthritis cases//27,981 european ancestry controls; 2,169 european ancestry celiac disease cases//2,845 european ancestry rheumatoid arthritis cases//7,199 european ancestry controls EFO_0000540 N/A Associate Celiac disease or rheumatoid arthritis rs975730-? of NONHSAT217631.1 is significantly associated with the celiac disease or rheumatoid arthritis by using GWAS analysis in 4,533 european ancestry celiac disease cases//5,539 european ancestry rheumatoid arthritis cases//27,981 european ancestry controls; 2,169 european ancestry celiac disease cases//2,845 european ancestry rheumatoid arthritis cases//7,199 european ancestry controls(p-value = 2E-8 ;OR = ?). 0.4 Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci. NCRV0000000079 22005931 NONHSAT174682.1 rs12933233 ? N/A 1,190 european ancestry cases//1,032 cases EFO_0000249 N/A Associate Alzheimer's disease (age of onset) rs12933233-? of NONHSAT174682.1 is significantly associated with the alzheimer's disease (age of onset) by using GWAS analysis in 1,190 european ancestry cases//1,032 cases(p-value = 8E-6 ;OR = 0.7869). 0.4 Genome-wide association analysis of age-at-onset in Alzheimer's disease. NCRV0000003174 23251661 NONHSAT222090.1 rs1443438 A N/A 815 hispanic children from 263 families EFO_0004748 N/A Associate Obesity-related traits rs1443438-A of NONHSAT222090.1 is significantly associated with the obesity-related traits by using GWAS analysis in 815 hispanic children from 263 families(p-value = 1E-9 ;OR = 0.04). 0.4 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. NCRV0000001425 26252872 NONHSAT152108.1 rs114685215 G N/A 370 european and other ancestry apoee4 non-carriers EFO_0000249 N/A Associate Cerebral amyloid deposition in apoee4 non-carriers (pet imaging) rs114685215-G of NONHSAT152108.1 is significantly associated with the cerebral amyloid deposition in apoee4 non-carriers (pet imaging) by using GWAS analysis in 370 european and other ancestry apoee4 non-carriers(p-value = 2E-7 ;OR = 0.3389). 0.4 Variations in the FRA10AC1 Fragile Site and 15q21 Are Associated with Cerebrospinal Fluid Abeta1-42 Level. NCRV0000003954 27863252 NONHSAT006319.2 rs4970966 T N/A 170,494 european ancestry individuals EFO_0007989 N/A Associate Monocyte percentage of white cells rs4970966-T of NONHSAT006319.2 is significantly associated with the monocyte percentage of white cells by using GWAS analysis in 170,494 european ancestry individuals(p-value = 4E-56 ;OR = 0.06773102). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002702 26634245 NONHSAT206133.1 rs73780158 G N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs73780158-G of NONHSAT206133.1 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 5E-7 ;OR = 0.062). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000000569 23942779 NONHSAT148542.1 rs3131513 G N/A 7,188 european ancestry individuals EFO_0003829 N/A Associate Alcohol dependence rs3131513-G of NONHSAT148542.1 is significantly associated with the alcohol dependence by using GWAS analysis in 7,188 european ancestry individuals(p-value = 2E-6 ;OR = 0.353). 0.4 A genome-wide association study of behavioral disinhibition. NCRV0000001371 28604730 NONHSAT201501.1 rs11941078 C N/A 29,266 european ancestry cases//56,450 european ancestry controls EFO_0001071 N/A Associate Lung cancer rs11941078-C of NONHSAT201501.1 is significantly associated with the lung cancer by using GWAS analysis in 29,266 european ancestry cases//56,450 european ancestry controls(p-value = 2E-6 ;OR = 1.1084317). 0.4 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. NCRV0000002480 24903457 NONHSAT182293.1 rs13390641 A N/A 7,486 korean ancestry individuals; 4,544 east asian ancestry individuals EFO_0006335 N/A Associate Blood pressure rs13390641-A of NONHSAT182293.1 is significantly associated with the blood pressure by using GWAS analysis in 7,486 korean ancestry individuals; 4,544 east asian ancestry individuals(p-value = 4E-8 ;OR = 14.4). 0.4 Identification of a genetic variant at 2q12.1 associated with blood pressure in East Asians by genome-wide scan including gene-environment interactions. NCRV0000003524 24903457 NONHSAT182293.1 rs13390641 A N/A 7,486 korean ancestry individuals; 4,544 east asian ancestry individuals EFO_0006336 N/A Associate Blood pressure rs13390641-A of NONHSAT182293.1 is significantly associated with the blood pressure by using GWAS analysis in 7,486 korean ancestry individuals; 4,544 east asian ancestry individuals(p-value = 4E-8 ;OR = 14.4). 0.4 Identification of a genetic variant at 2q12.1 associated with blood pressure in East Asians by genome-wide scan including gene-environment interactions. NCRV0000003744 28107422 NONHSAT119487.2 rs1029738 ? N/A 91,953 european ancestry individuals (imputed to hapmap); EFO_0004623 N/A Associate Fibrinogen levels rs1029738-? of NONHSAT119487.2 is significantly associated with the fibrinogen levels by using GWAS analysis in 91,953 european ancestry individuals (imputed to hapmap); (p-value = 3E-7 ;OR = 0.0057). 0.4 Comparison of HapMap and 1000 Genomes Reference Panels in a Large-Scale Genome-Wide Association Study. NCRV0000001781 28441456 NONHSAT187287.1 rs62158800 T N/A 2,187 european ancestry individuals EFO_0007841 N/A Associate Facial morphology (factor 22) rs62158800-T of NONHSAT187287.1 is significantly associated with the facial morphology (factor 22) by using GWAS analysis in 2,187 european ancestry individuals(p-value = 2E-6 ;OR = 0.2694). 0.4 Genome-wide association study of facial morphology reveals novel associations with FREM1 and PARK2. NCRV0000000094 26621817 NONHSAT159414.1 rs606460 G N/A 5,725 european ancestry colorectal carcinoma cases//2,212 european ancestry endometrial carcinoma cases//13,396 european ancestry controls EFO_1001512 N/A Associate Colorectal or endometrial cancer rs606460-G of NONHSAT159414.1 is significantly associated with the colorectal or endometrial cancer by using GWAS analysis in 5,725 european ancestry colorectal carcinoma cases//2,212 european ancestry endometrial carcinoma cases//13,396 european ancestry controls(p-value = 4E-6 ;OR = 1.11). 0.4 Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1. NCRV0000000354 25187353 NONHSAT155152.1 rs17156371 A N/A 161 european ancestry cases//1,196 european ancestry clozapine-treated and untreated controls HP_0012235 N/A Associate Clozapine-induced agranulocytosis rs17156371-A of NONHSAT155152.1 is significantly associated with the clozapine-induced agranulocytosis by using GWAS analysis in 161 european ancestry cases//1,196 european ancestry clozapine-treated and untreated controls(p-value = 5E-6 ;OR = 2.1463). 0.4 Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles. NCRV0000001559 28498854 NONHSAT215731.1 rs10096908 ? N/A up to 31,155 african individuals; up to 4,187 african individuals//up to 14,016 korean ancestry individuals//up to 23,914 european ancestry individuals//up to 12,278 hispanic individuals EFO_0000537 N/A Associate Blood pressure traits (multi-trait analysis) rs10096908-? of NONHSAT215731.1 is significantly associated with the blood pressure traits (multi-trait analysis) by using GWAS analysis in up to 31,155 african individuals; up to 4,187 african individuals//up to 14,016 korean ancestry individuals//up to 23,914 european ancestry individuals//up to 12,278 hispanic individuals(p-value = 2E-6 ;OR = ?). 0.4 Single-trait and multi-trait genome-wide association analyses identify novel loci for blood pressure in African-ancestry populations. NCRV0000000160 28199695 NONHSAT203208.1 rs2073643 T N/A 84,724 european ancestry individuals EFO_0008378 N/A Associate Mosquito bite size rs2073643-T of NONHSAT203208.1 is significantly associated with the mosquito bite size by using GWAS analysis in 84,724 european ancestry individuals(p-value = 3E-20 ;OR = 0.0483183). 0.4 GWAS of self-reported mosquito bite size, itch intensity and attractiveness to mosquitoes implicates immune-related predisposition loci. NCRV0000000363 27863252 NONHSAT182281.1 rs34020101 T N/A 172,378 european ancestry individuals EFO_0007991 N/A Associate Eosinophil percentage of white cells rs34020101-T of NONHSAT182281.1 is significantly associated with the eosinophil percentage of white cells by using GWAS analysis in 172,378 european ancestry individuals(p-value = 1E-27 ;OR = 0.03962069). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003391 20598377 NONHSAT061216.2 rs3745672 ? N/A 590 european ancestry cases//825 european ancestry controls EFO_0003885 N/A Associate Multiple sclerosis rs3745672-? of NONHSAT061216.2 is significantly associated with the multiple sclerosis by using GWAS analysis in 590 european ancestry cases//825 european ancestry controls(p-value = 1E-6 ;OR = 7.39). 0.4 Evidence for VAV2 and ZNF433 as susceptibility genes for multiple sclerosis. NCRV0000000254 28334899 NONHSAT179794.1 rs445925 A N/A 32,285 east asian ancestry individuals//173,082 european ancestry individuals; 8,478 chinese ancestry individuals EFO_0000319 N/A Associate Ldl cholesterol levels rs445925-A of NONHSAT179794.1 is significantly associated with the ldl cholesterol levels by using GWAS analysis in 32,285 east asian ancestry individuals//173,082 european ancestry individuals; 8,478 chinese ancestry individuals(p-value = 1E-129 ;OR = 0.523). 0.4 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels. NCRV0000001372 25231870 NONHSAT150370.1 rs951366 T N/A up to 182,413 european ancestry females EFO_0004703 N/A Associate Menarche (age at onset) rs951366-T of NONHSAT150370.1 is significantly associated with the menarche (age at onset) by using GWAS analysis in up to 182,413 european ancestry females(p-value = 2E-8 ;OR = 0.03). 0.4 Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. NCRV0000001138 27863252 NONHSAT182281.1 rs34020101 T N/A 170,672 european ancestry individuals EFO_0007994 N/A Associate Neutrophil percentage of granulocytes rs34020101-T of NONHSAT182281.1 is significantly associated with the neutrophil percentage of granulocytes by using GWAS analysis in 170,672 european ancestry individuals(p-value = 1E-26 ;OR = 0.03903311). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001794 27863252 NONHSAT182281.1 rs34020101 T N/A 170,536 european ancestry individuals EFO_0007996 N/A Associate Eosinophil percentage of granulocytes rs34020101-T of NONHSAT182281.1 is significantly associated with the eosinophil percentage of granulocytes by using GWAS analysis in 170,536 european ancestry individuals(p-value = 6E-27 ;OR = 0.03927692). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000001408 27863252 NONHSAT152639.1 rs10911457 C N/A 170,763 european ancestry individuals EFO_0007986 N/A Associate High light scatter reticulocyte count rs10911457-C of NONHSAT152639.1 is significantly associated with the high light scatter reticulocyte count by using GWAS analysis in 170,763 european ancestry individuals(p-value = 1E-10 ;OR = 0.02324864). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000002903 29059683 NONHSAT187435.1 rs4848599 C N/A 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls EFO_0000305 N/A Associate Breast cancer rs4848599-C of NONHSAT187435.1 is significantly associated with the breast cancer by using GWAS analysis in 76,192 european ancestry cases//63,082 european ancestry controls; 46,785 european ancestry cases//42,892 european ancestry controls//14,068 east asian ancestry cases//13,104 east asian ancestry controls(p-value = 2E-20 ;OR = 0.0933). 0.4 Association analysis identifies 65 new breast cancer risk loci. NCRV0000002600 23446634 NONHSAT139199.2 rs1050828 T N/A up to 16,485 african american individuals; 9,692 african american individuals//21,020 european ancestry individuals//14,088 japanese ancestry individuals EFO_0005192 N/A Associate Red blood cell traits rs1050828-T of NONHSAT139199.2 is significantly associated with the red blood cell traits by using GWAS analysis in up to 16,485 african american individuals; 9,692 african american individuals//21,020 european ancestry individuals//14,088 japanese ancestry individuals(p-value = 2E-11 ;OR = 0.0326). 0.4 Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network. NCRV0000001671 27702941 NONHSAT214396.1 rs10275488 T N/A 9,054 european ancestry individuals; 822 european ancestry individuals EFO_0007872 N/A Associate Caffeine metabolism (plasma 1,3,7-trimethylxanthine (caffeine) level) rs10275488-T of NONHSAT214396.1 is significantly associated with the caffeine metabolism (plasma 1,3,7-trimethylxanthine (caffeine) level) by using GWAS analysis in 9,054 european ancestry individuals; 822 european ancestry individuals(p-value = 5E-9 ;OR = 5.85). 0.4 Genome-wide association study of caffeine metabolites provides new insights to caffeine metabolism and dietary caffeine-consumption behavior. NCRV0000002216 26634245 NONHSAT197527.1 rs150425940 A N/A 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals EFO_0003892 N/A Associate Post bronchodilator fev1/fvc ratio rs150425940-A of NONHSAT197527.1 is significantly associated with the post bronchodilator fev1/fvc ratio by using GWAS analysis in 10,094 european ancestry current and former smoker individuals//3,260 african american current and former smoker individuals//178 current and former smoker individuals(p-value = 2E-6 ;OR = 0.078). 0.4 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. NCRV0000003467 28453575 NONHSAT160034.1 rs334 T N/A 12,502 hispanic/latino individuals; 7,106 hispanic/latino individuals EFO_0004348 N/A Associate Hematocrit rs334-T of NONHSAT160034.1 is significantly associated with the hematocrit by using GWAS analysis in 12,502 hispanic/latino individuals; 7,106 hispanic/latino individuals(p-value = 1E-10 ;OR = 1.32). 0.4 Genome-wide association study of red blood cell traits in Hispanics/Latinos: The Hispanic Community Health Study/Study of Latinos. NCRV0000000406 26891255 NONHSAT113779.2 rs293526 T N/A 275 korean ancestry cases//2,369 korean ancestry controls; 242 korean ancestry cases//1,066 korean ancestry controls EFO_0000384 N/A Associate Crohn's disease rs293526-T of NONHSAT113779.2 is significantly associated with the crohn's disease by using GWAS analysis in 275 korean ancestry cases//2,369 korean ancestry controls; 242 korean ancestry cases//1,066 korean ancestry controls(p-value = 2E-11 ;OR = 2.1276596). 0.4 HLA-C*01 is a Risk Factor for Crohn's Disease. NCRV0000003842 27863252 NONHSAT183488.1 rs715 C N/A 164,339 european ancestry individuals EFO_0007985 N/A Associate Plateletcrit rs715-C of NONHSAT183488.1 is significantly associated with the plateletcrit by using GWAS analysis in 164,339 european ancestry individuals(p-value = 1E-9 ;OR = 0.02410037). 0.4 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. NCRV0000003806 17903297 NONHSAT159938.1 rs1031381 ? N/A 694 european ancestry individuals EFO_0003926 N/A Associate Cognitive test performance rs1031381-? of NONHSAT159938.1 is significantly associated with the cognitive test performance by using GWAS analysis in 694 european ancestry individuals(p-value = 6E-6 ;OR = ?). 0.4 Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study. NCRV0000001831 23377640 NONHSAT196791.1 rs604222 A N/A up to 2,256 european ancestry cases EFO_0003761 N/A Associate Major depressive disorder rs604222-A of NONHSAT196791.1 is significantly associated with the major depressive disorder by using GWAS analysis in up to 2,256 european ancestry cases(p-value = 7E-6 ;OR = 0.2173). 0.4 Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies. NCRV0000002366 28416818 NONHSAT150035.1 rs520525 A N/A 15,979 european ancestry cases//102,776 european ancestry controls//641 african american cases//5,234 african american controls//837 japanese ancestry cases//3,293 japanese controls//277 hispanic cases//3,081 hispanic controls,197 brazilian ancestry cases//758 brazilian ancestry controls.; 8,180 japanese ancestry cases//28,612 japanese ancestry controls. EFO_0000275 N/A Associate Atrial fibrillation rs520525-A of NONHSAT150035.1 is significantly associated with the atrial fibrillation by using GWAS analysis in 15,979 european ancestry cases//102,776 european ancestry controls//641 african american cases//5,234 african american controls//837 japanese ancestry cases//3,293 japanese controls//277 hispanic cases//3,081 hispanic controls,197 brazilian ancestry cases//758 brazilian ancestry controls.; 8,180 japanese ancestry cases//28,612 japanese ancestry controls.(p-value = 6E-16 ;OR = 1.12). 0.4 Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation. NCRV0000001096 26198764 NONHSAT048434.2 rs4702 G N/A 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls EFO_0000692 N/A Associate Schizophrenia rs4702-G of NONHSAT048434.2 is significantly associated with the schizophrenia by using GWAS analysis in 592 ashkenazi jewish ancestry cases//505 ashkenazi jewish ancestry controls//36,989 cases//113,075 controls(p-value = 3E-12 ;OR = 1.0752687). 0.4 Genome-wide association study of schizophrenia in Ashkenazi Jews. NCRV0000003562 25673412 NONHSAT170927.1 rs1440372 C N/A up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women EFO_0007788 N/A Associate Waist-to-hip ratio adjusted for body mass index rs1440372-C of NONHSAT170927.1 is significantly associated with the waist-to-hip ratio adjusted for body mass index by using GWAS analysis in up to 56,910 european ancestry men//up to 86,570 european ancestry women; up to 36,570 european ancestry men//30,172 european ancestry women//915 filipino ancestry men//735 filipino ancestry women//2,351 african american/afro-caribbean ancestry men//6,258 african american/afro-caribbean ancestry women//2,285 south asian ancestry men//506 south asian ancestry women//195 seychellois ancestry men//266 seychellois ancestry women(p-value = 1E-10 ;OR = 0.0244). 0.4 New genetic loci link adipose and insulin biology to body fat distribution. NCRV0000002376 26502338 NONHSAT159978.1 rs12802200 C N/A 5,201 european ancestry cases//9,066 european ancestry controls; 2,018 european ancestry cases//6,925 european ancestry controls EFO_0002690 N/A Associate Systemic lupus erythematosus rs12802200-C of NONHSAT159978.1 is significantly associated with the systemic lupus erythematosus by using GWAS analysis in 5,201 european ancestry cases//9,066 european ancestry controls; 2,018 european ancestry cases//6,925 european ancestry controls(p-value = 9E-10 ;OR = 1.23). 0.4 Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus.