Source: GWASCAT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2074238
rs2074238
KCNQ1
CUI: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		T 0.800 GeneticVariation GWASCAT Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. 24952745

2014
dbSNP: rs16928297
rs16928297
KCNQ1
CUI: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		0.800 GeneticVariation GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584

2019
dbSNP: rs12576239
rs12576239
KCNQ1
CUI: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		T 0.800 GeneticVariation GWASCAT Common variants at ten loci influence QT interval duration in the QTGEN Study. 19305408

2009
dbSNP: rs12296050
rs12296050
KCNQ1
CUI: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		T 0.800 GeneticVariation GWASCAT Common variants at ten loci modulate the QT interval duration in the QTSCD Study. 19305409

2009
dbSNP: rs12296050
rs12296050
KCNQ1
CUI: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		0.800 GeneticVariation GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584

2019
dbSNP: rs12296050
rs12296050
KCNQ1
CUI: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		T 0.800 GeneticVariation GWASCAT Several common variants modulate heart rate, PR interval and QRS duration. 20062063

2010
dbSNP: rs2283228
rs2283228
KCNQ1
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		A 0.760 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: rs2283228
rs2283228
KCNQ1
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		A 0.760 GeneticVariation GWASCAT Genetics of Type 2 Diabetes in U.S. Hispanic/Latino Individuals: Results From the Hispanic Community Health Study/Study of Latinos (HCHS/SOL). 28254843

2017
dbSNP: rs84178
rs84178
KCNQ1
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		A 0.700 GeneticVariation GWASCAT 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function. 28452372

2017
dbSNP: rs84178
rs84178
KCNQ1
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		A 0.700 GeneticVariation GWASCAT 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function. 28452372

2017
dbSNP: rs81205
rs81205
KCNQ1
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		A 0.700 GeneticVariation GWASCAT Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program. 31451708

2019
dbSNP: rs7947981
rs7947981
KCNQ1
CUI: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		G 0.700 GeneticVariation GWASCAT Genome-wide association study of electrocardiographic parameters identifies a new association for PR interval and confirms previously reported associations. 25055868

2014
dbSNP: rs76868685
rs76868685
KCNQ1
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		C 0.700 GeneticVariation GWASCAT Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population. 30718926

2019
dbSNP: rs7122937
rs7122937
KCNQ1
CUI: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		T 0.700 GeneticVariation GWASCAT Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. 24952745

2014
dbSNP: rs7122937
rs7122937
KCNQ1
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: rs63934
rs63934
KCNQ1
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		A 0.700 GeneticVariation GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163

2019
dbSNP: rs61869763
rs61869763
KCNQ1
CUI: C0005890
Disease: Body Height
Body Height 		0.700 GeneticVariation GWASCAT Characterizing rare and low-frequency height-associated variants in the Japanese population. 31562340

2019
dbSNP: rs60808706
rs60808706
KCNQ1
CUI: C0495706
Disease: elevated blood glucose level
elevated blood glucose level 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010

2018
dbSNP: rs60808706
rs60808706
KCNQ1
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		A 0.700 GeneticVariation GWASCAT Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels. 31578528

2019
dbSNP: rs60808706
rs60808706
KCNQ1
CUI: C0337438
Disease: Glucose measurement
Glucose measurement 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010

2018
dbSNP: rs60808706
rs60808706
KCNQ1
CUI: C1305855
Disease: Body mass index
Body mass index 		A 0.700 GeneticVariation GWASCAT Genome-wide association study identifies 112 new loci for body mass index in the Japanese population. 28892062

2017
dbSNP: rs3216306
rs3216306
KCNQ1
CUI: C0005890
Disease: Body Height
Body Height 		0.700 GeneticVariation GWASCAT Characterizing rare and low-frequency height-associated variants in the Japanese population. 31562340

2019
dbSNP: rs2411884
rs2411884
KCNQ1
CUI: C0337438
Disease: Glucose measurement
Glucose measurement 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010

2018
dbSNP: rs2411884
rs2411884
KCNQ1
CUI: C0495706
Disease: elevated blood glucose level
elevated blood glucose level 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010

2018
dbSNP: rs234886
rs234886
KCNQ1
CUI: C0005890
Disease: Body Height
Body Height 		C 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. 25429064

2015