Source: CLINVAR

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: rs12720459
rs12720459
KCNQ1
0.807 0.160 11 2583535 missense variant C/A;G;T snv
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.850 1.000 0 2005 2017
dbSNP: rs199473457
rs199473457
KCNQ1
0.827 0.200 11 2572020 missense variant C/A;T snv
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.810 1.000 8 1996 2015
dbSNP: rs199472804
rs199472804
KCNQ1
0.925 0.120 11 2776997 missense variant C/A;T snv
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.810 1.000 2 1996 2019
dbSNP: rs120074178
rs120074178
KCNQ1
0.925 0.120 11 2570719 missense variant G/A;C;T snv 4.0E-06; 4.0E-06; 1.6E-05
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.810 1.000 0 1996 2015
dbSNP: rs120074191
rs120074191
KCNQ1
0.925 0.120 11 2445448 missense variant C/T snv
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.810 1.000 0 1996 2017
dbSNP: rs120074193
rs120074193
KCNQ1
0.807 0.120 11 2572870 missense variant G/A;C snv 4.0E-06
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.810 1.000 0 1996 2017
dbSNP: rs199472755
rs199472755
KCNQ1
0.851 0.120 11 2583478 missense variant C/A;G;T snv 4.0E-06
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.810 1.000 0 1996 2017
dbSNP: rs199472794
rs199472794
KCNQ1
1.000 0.120 11 2775985 missense variant G/A;C snv
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.800 1.000 2 1996 2015
dbSNP: rs199472759
rs199472759
KCNQ1
0.925 0.120 11 2583529 missense variant T/A;C snv
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.800 1.000 1 1996 2017
dbSNP: rs104894252
rs104894252
KCNQ1
1.000 0.120 11 2570715 missense variant G/A;C snv
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.800 1.000 0 1996 2017
dbSNP: rs120074177
rs120074177
KCNQ1
0.925 0.120 11 2570682 missense variant G/A;C snv 4.0E-06
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.800 1.000 0 1996 2017
dbSNP: rs120074179
rs120074179
KCNQ1
0.925 0.120 11 2572089 missense variant G/A;C;T snv
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.800 1.000 0 1996 2015
dbSNP: rs120074180
rs120074180
KCNQ1
1.000 0.120 11 2572882 missense variant C/G;T snv 4.0E-06
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.800 1.000 0 1996 2015
dbSNP: rs120074181
rs120074181
KCNQ1
0.925 0.120 11 2572981 missense variant G/A;C snv
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.800 1.000 0 1996 2015
dbSNP: rs120074182
rs120074182
KCNQ1
1.000 0.120 11 2583448 missense variant C/T snv
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.800 1.000 0 1996 2017
dbSNP: rs120074183
rs120074183
KCNQ1
1.000 0.120 11 2585213 missense variant G/A snv 1.4E-05
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.800 1.000 0 1996 2017
dbSNP: rs120074184
rs120074184
KCNQ1
0.925 0.120 11 2583453 missense variant G/A;C;T snv
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.800 1.000 0 1996 2017
dbSNP: rs120074185
rs120074185
KCNQ1
0.925 0.120 11 2776032 missense variant C/A;T snv 1.1E-05; 1.1E-05
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.800 1.000 0 1996 2015
dbSNP: rs120074186
rs120074186
KCNQ1
0.851 0.120 11 2572979 stop gained G/A;C;T snv 1.6E-05; 4.0E-06; 4.0E-06
CUI: C4551509
Disease: Jervell And Lange-Nielsen Syndrome 1
Jervell And Lange-Nielsen Syndrome 1 		0.800 1.000 0 1998 2015
dbSNP: rs120074187
rs120074187
KCNQ1
0.882 0.120 11 2572963 missense variant G/A snv 4.8E-05 2.1E-05
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.800 1.000 0 1996 2017
dbSNP: rs120074190
rs120074190
KCNQ1
0.882 0.120 11 2778009 missense variant G/A snv 4.8E-05 5.6E-05
CUI: C4551509
Disease: Jervell And Lange-Nielsen Syndrome 1
Jervell And Lange-Nielsen Syndrome 1 		0.800 1.000 0 1998 2015
dbSNP: rs120074190
rs120074190
KCNQ1
0.882 0.120 11 2778009 missense variant G/A snv 4.8E-05 5.6E-05
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.800 1.000 0 1996 2015
dbSNP: rs120074192
rs120074192
KCNQ1
0.763 0.120 11 2527959 missense variant A/G snv
CUI: C1837014
Disease: Atrial Fibrillation, Familial, 3
Atrial Fibrillation, Familial, 3 		0.800 1.000 0 2003 2003
dbSNP: rs120074194
rs120074194
KCNQ1
0.925 0.120 11 2572871 missense variant G/A;T snv
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.800 1.000 0 1996 2015
dbSNP: rs120074195
rs120074195
KCNQ1
0.925 0.120 11 2572984 missense variant G/A;C snv
CUI: C1865019
Disease: SHORT QT SYNDROME 2 (disorder)
SHORT QT SYNDROME 2 (disorder) 		0.800 1.000 0 2004 2004