Source: GWASCAT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs231362
rs231362
KCNQ1 ; KCNQ1OT1
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.840 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs231362
rs231362
KCNQ1 ; KCNQ1OT1
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		G 0.840 GeneticVariation GWASCAT Identification of new susceptibility loci for type 2 diabetes and shared etiological pathways with coronary heart disease. 28869590

2017
dbSNP: rs231362
rs231362
KCNQ1 ; KCNQ1OT1
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		G 0.840 GeneticVariation GWASCAT Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. 20581827

2010
dbSNP: rs231361
rs231361
KCNQ1 ; KCNQ1OT1
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		A 0.800 GeneticVariation GWASCAT Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. 22885922

2012
dbSNP: rs874031
rs874031
KCNQ1 ; KCNQ1OT1
CUI: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		0.700 GeneticVariation GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584

2019
dbSNP: rs78695585
rs78695585
KCNQ1 ; KCNQ1OT1
CUI: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		A 0.700 GeneticVariation GWASCAT GWAS of the electrocardiographic QT interval in Hispanics/Latinos generalizes previously identified loci and identifies population-specific signals. 29213071

2017
dbSNP: rs77402029
rs77402029
KCNQ1 ; KCNQ1OT1
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		G 0.700 GeneticVariation GWASCAT Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population. 30718926

2019
dbSNP: rs7128926
rs7128926
KCNQ1 ; KCNQ1OT1
CUI: C0005890
Disease: Body Height
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs231356
rs231356
KCNQ1 ; KCNQ1OT1
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		T 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies in African Americans provides insights into the genetic architecture of type 2 diabetes. 25102180

2014
dbSNP: rs231350
rs231350
KCNQ1 ; KCNQ1OT1
CUI: C0005612
Disease: Birth Weight
Birth Weight 		C 0.700 GeneticVariation GWASCAT Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors. 31043758

2019
dbSNP: rs151216
rs151216
KCNQ1 ; KCNQ1OT1
CUI: C0005612
Disease: Birth Weight
Birth Weight 		C 0.700 GeneticVariation GWASCAT Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors. 31043758

2019
dbSNP: rs117601636
rs117601636
KCNQ1 ; KCNQ1OT1
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		A 0.700 GeneticVariation GWASCAT Genome-wide association studies in the Japanese population identify seven novel loci for type 2 diabetes. 26818947

2016
dbSNP: rs10832417
rs10832417
KCNQ1 ; KCNQ1OT1
CUI: C1306620
Disease: Systolic blood pressure measurement
Systolic blood pressure measurement 		T 0.700 GeneticVariation GWASCAT Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese. 24165912

2013
dbSNP: rs10832417
rs10832417
KCNQ1 ; KCNQ1OT1
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		T 0.700 GeneticVariation GWASCAT Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese. 24165912

2013
dbSNP: rs10832417
rs10832417
KCNQ1 ; KCNQ1OT1
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure 		T 0.700 GeneticVariation GWASCAT Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese. 24165912

2013
dbSNP: rs147445322
rs147445322
KCNQ1 ; KCNQ1-AS1
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 GeneticVariation GWASCAT Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population. 29124443

2018
dbSNP: rs147445322
rs147445322
KCNQ1 ; KCNQ1-AS1
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia 		0.700 GeneticVariation GWASCAT Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population. 29124443

2018
dbSNP: rs2237895
rs2237895
KCNQ1
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.900 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs2237895
rs2237895
KCNQ1
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		C 0.900 GeneticVariation GWASCAT We also confirmed that variants in KCNQ1 were associated with T2D risk, with the strongest signal at rs2237895 (P = 9.65x10(-10); OR = 1.29, 95% CI = 1.19-1.40). 20174558

2010
dbSNP: rs2237892
rs2237892
KCNQ1
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		C 0.900 GeneticVariation GWASCAT A genome-wide association study identifies GRK5 and RASGRP1 as type 2 diabetes loci in Chinese Hans. 22961080

2013
dbSNP: rs2237892
rs2237892
KCNQ1
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		T 0.900 GeneticVariation GWASCAT Identification of new susceptibility loci for type 2 diabetes and shared etiological pathways with coronary heart disease. 28869590

2017
dbSNP: rs2237892
rs2237892
KCNQ1
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		T 0.900 GeneticVariation GWASCAT Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes. 30054458

2018
dbSNP: rs2237892
rs2237892
KCNQ1
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		C 0.900 GeneticVariation GWASCAT Genome-wide association study identifies three novel loci for type 2 diabetes. 23945395

2014
dbSNP: rs2237892
rs2237892
KCNQ1
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		C 0.900 GeneticVariation GWASCAT The association of KCNQ1 with type 2 diabetes was replicated in populations of Korean, Chinese and European ancestry as well as in two independent Japanese populations, and meta-analysis with a total of 19,930 individuals (9,569 cases and 10,361 controls) yielded a P value of 1.7 x 10(-42) (OR = 1.40; 95% CI = 1.34-1.47) for rs2237892. 18711367

2008
dbSNP: rs2237892
rs2237892
KCNQ1
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		C 0.900 GeneticVariation GWASCAT Confirmation of multiple risk Loci and genetic impacts by a genome-wide association study of type 2 diabetes in the Japanese population. 19401414

2009