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: rs199472944
rs199472944
KCNH2
0.882 0.120 7 150951552 missense variant G/A snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 30 1997 2015
dbSNP: rs199472815
rs199472815
KCNQ1
0.851 0.120 11 2778024 missense variant G/A;C snv 2.0E-05
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 16 2000 2014
dbSNP: rs199473456
rs199473456
KCNQ1
0.882 0.120 11 2571394 missense variant C/T snv 1.2E-05
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 15 1999 2015
dbSNP: rs116840778
rs116840778
CAV3 ; SSUH2
0.882 0.200 3 8733956 missense variant G/A;C snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 14 2000 2011
dbSNP: rs199472957
rs199472957
KCNH2
0.882 0.120 7 150951507 missense variant T/A;C;G snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 14 1998 2016
dbSNP: rs120074193
rs120074193
KCNQ1
0.807 0.120 11 2572870 missense variant G/A;C snv 4.0E-06
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 13 1997 2015
dbSNP: rs199473487
rs199473487
KCNH2
0.925 0.120 7 150974920 missense variant T/G snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 13 1999 2017
dbSNP: rs199473524
rs199473524
KCNH2
0.925 0.120 7 150951555 missense variant G/A snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 13 1999 2015
dbSNP: rs199472719
rs199472719
KCNQ1
0.882 0.120 11 2572104 missense variant C/T snv 4.1E-06
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 12 2000 2015
dbSNP: rs199473411
rs199473411
KCNQ1
0.882 0.120 11 2585275 missense variant C/A;T snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 11 1997 2015
dbSNP: rs1060500621
rs1060500621
KCNQ1
1.000 0.120 11 2572846 missense variant GA/TT mnv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 10 1999 2016
dbSNP: rs199472805
rs199472805
KCNQ1
0.925 0.120 11 2777000 missense variant T/C;G snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 9 2005 2015
dbSNP: rs199472936
rs199472936
KCNH2
0.882 0.120 7 150951592 missense variant C/A;T snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 9 1998 2015
dbSNP: rs199473419
rs199473419
KCNH2
0.925 0.120 7 150974809 missense variant T/C snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 9 1999 2014
dbSNP: rs397508097
rs397508097
KCNQ1
0.807 0.120 11 2768917 stop gained C/T snv 2.8E-05 1.4E-05
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 9 2001 2014
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: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 8 1996 2014
dbSNP: rs199472696
rs199472696
KCNQ1
0.851 0.120 11 2570670 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 8 1997 2013
dbSNP: rs199472800
rs199472800
KCNQ1
0.925 0.120 11 2776033 missense variant G/A;T snv 2.3E-05; 5.7E-06
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 8 1997 2014
dbSNP: rs199472990
rs199472990
KCNH2
0.882 0.120 7 150950312 missense variant G/A snv 7.0E-06
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 8 2000 2018
dbSNP: rs199473538
rs199473538
KCNH2
0.882 0.120 7 150948981 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 8 2000 2013
dbSNP: rs179489
rs179489
KCNQ1
0.925 0.120 11 2570652 missense variant G/A;C snv 1.2E-05; 4.0E-06
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 7 1998 2015
dbSNP: rs199472687
rs199472687
KCNQ1
0.827 0.120 11 2527962 missense variant G/A snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 7 2005 2015
dbSNP: rs199472709
rs199472709
KCNQ1
0.790 0.120 11 2572021 missense variant G/A;T snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 7 2004 2015
dbSNP: rs199472713
rs199472713
KCNQ1
0.925 0.120 11 2572056 missense variant C/A;T snv 4.0E-06
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 7 1999 2015
dbSNP: rs120074194
rs120074194
KCNQ1
0.925 0.120 11 2572871 missense variant G/A;T snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 6 1997 2007