Source: GWASCAT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs60808706
rs60808706
KCNQ1
11 2836003 intron variant G/A snv 0.12
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2017 2017
dbSNP: rs78695585
rs78695585
KCNQ1 ; KCNQ1OT1
11 2623314 non coding transcript exon variant G/A;C snv
CUI: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		0.700 1.000 1 2017 2017
dbSNP: rs84178
rs84178
KCNQ1
11 2753144 intron variant A/G snv 0.88
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		0.700 1.000 1 2017 2017
dbSNP: rs84178
rs84178
KCNQ1
11 2753144 intron variant A/G snv 0.88
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2017 2017
dbSNP: rs163184
rs163184
KCNQ1
1.000 0.080 11 2825839 intron variant T/G snv 0.40
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.810 1.000 4 2010 2018
dbSNP: rs143709408
rs143709408
KCNQ1
0.882 0.200 11 2527999 missense variant C/T snv 1.6E-04 3.6E-04
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2018 2018
dbSNP: rs143709408
rs143709408
KCNQ1
0.882 0.200 11 2527999 missense variant C/T snv 1.6E-04 3.6E-04
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia 		0.700 1.000 1 2018 2018
dbSNP: rs143709408
rs143709408
KCNQ1
0.882 0.200 11 2527999 missense variant C/T snv 1.6E-04 3.6E-04
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		0.700 1.000 1 2018 2018
dbSNP: rs143709408
rs143709408
KCNQ1
0.882 0.200 11 2527999 missense variant C/T snv 1.6E-04 3.6E-04
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		0.700 1.000 1 2018 2018
dbSNP: rs147445322
rs147445322
KCNQ1 ; KCNQ1-AS1
0.882 0.120 11 2847803 missense variant G/A;T snv 7.2E-05; 5.5E-06
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 1 2018 2018
dbSNP: rs147445322
rs147445322
KCNQ1 ; KCNQ1-AS1
0.882 0.120 11 2847803 missense variant G/A;T snv 7.2E-05; 5.5E-06
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia 		0.700 1.000 1 2018 2018
dbSNP: rs2411884
rs2411884
KCNQ1
11 2714304 intron variant C/A;G snv
CUI: C0495706
Disease: elevated blood glucose level
elevated blood glucose level 		0.700 1.000 1 2018 2018
dbSNP: rs2411884
rs2411884
KCNQ1
11 2714304 intron variant C/A;G snv
CUI: C0337438
Disease: Glucose measurement
Glucose measurement 		0.700 1.000 1 2018 2018
dbSNP: rs60808706
rs60808706
KCNQ1
11 2836003 intron variant G/A snv 0.12
CUI: C0495706
Disease: elevated blood glucose level
elevated blood glucose level 		0.700 1.000 1 2018 2018
dbSNP: rs60808706
rs60808706
KCNQ1
11 2836003 intron variant G/A snv 0.12
CUI: C0337438
Disease: Glucose measurement
Glucose measurement 		0.700 1.000 1 2018 2018
dbSNP: rs2237892
rs2237892
KCNQ1
0.790 0.320 11 2818521 intron variant C/T snv 9.2E-02
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.900 1.000 6 2008 2019
dbSNP: rs2074238
rs2074238
KCNQ1
1.000 0.120 11 2463573 intron variant T/A;C snv
CUI: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		0.800 1.000 4 2009 2019
dbSNP: rs12296050
rs12296050
KCNQ1
11 2468112 intron variant C/T snv 0.32
CUI: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		0.800 1.000 3 2009 2019
dbSNP: rs2237896
rs2237896
KCNQ1
1.000 0.080 11 2837210 intron variant G/A;T snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.810 1.000 3 2011 2019
dbSNP: rs2237897
rs2237897
KCNQ1
0.882 0.200 11 2837316 intron variant C/T snv 8.1E-02
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.880 1.000 3 2008 2019
dbSNP: rs231362
rs231362
KCNQ1 ; KCNQ1OT1
1.000 0.080 11 2670241 non coding transcript exon variant A/G snv 0.62
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.840 1.000 3 2010 2019
dbSNP: rs143840904
rs143840904
KCNQ1
11 2792092 intron variant C/T snv 1.5E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 2 2019 2019
dbSNP: rs2237895
rs2237895
KCNQ1
0.790 0.240 11 2835964 intron variant A/C;T snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.900 0.889 2 2008 2019
dbSNP: rs7122937
rs7122937
KCNQ1
11 2465320 intron variant C/T snv 0.30
CUI: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		0.700 1.000 2 2014 2019
dbSNP: rs151216
rs151216
KCNQ1 ; KCNQ1OT1
11 2659585 non coding transcript exon variant C/T snv 0.11
CUI: C0005612
Disease: Birth Weight
Birth Weight 		0.700 1.000 1 2019 2019