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: rs199473538
rs199473538
KCNH2
0.882 0.120 7 150948981 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.700 1.000 15 2000 2016
dbSNP: rs199472921
rs199472921
KCNH2
0.882 0.120 7 150951712 missense variant C/G;T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 14 1999 2016
dbSNP: rs199472921
rs199472921
KCNH2
0.882 0.120 7 150951712 missense variant C/G;T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 14 1999 2016
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: rs199473522
rs199473522
KCNH2
0.882 0.120 7 150951583 missense variant C/T snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.710 1.000 14 1999 2014
dbSNP: rs773724817
rs773724817
KCNH2
0.925 0.160 7 150948861 stop gained G/A snv 4.0E-06
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 14 1999 2016
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: rs199472845
rs199472845
KCNH2
0.925 0.120 7 150974851 missense variant C/A;T snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.710 1.000 9 1999 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: rs199472990
rs199472990
KCNH2
0.882 0.120 7 150950312 missense variant G/A snv 7.0E-06
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.700 1.000 9 2000 2018
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: rs121912507
rs121912507
KCNH2
0.882 0.120 7 150951511 missense variant C/G;T snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.710 1.000 8 1995 2013
dbSNP: rs199472916
rs199472916
KCNH2
0.925 0.120 7 150951793 missense variant G/A;T snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.710 1.000 8 1998 2019
dbSNP: rs199472944
rs199472944
KCNH2
0.882 0.120 7 150951552 missense variant G/A snv
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 1.000 8 1995 2009
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: rs199472936
rs199472936
KCNH2
0.882 0.120 7 150951592 missense variant C/A;T snv
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.830 1.000 7 1995 2017
dbSNP: rs199472918
rs199472918
KCNH2
0.882 0.120 7 150951738 missense variant A/G snv 7.2E-05 5.6E-05
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 1.000 6 1995 2017
dbSNP: rs199472941
rs199472941
KCNH2
0.925 0.120 7 150951568 missense variant C/A;G;T snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 6 2000 2016
dbSNP: rs199472968
rs199472968
KCNH2
0.925 0.120 7 150951484 missense variant C/T snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.710 1.000 6 2002 2014
dbSNP: rs199472910
rs199472910
KCNH2
0.827 0.120 7 150952508 missense variant G/A snv 1.2E-05
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.700 1.000 5 2003 2017
dbSNP: rs199472918
rs199472918
KCNH2
0.882 0.120 7 150951738 missense variant A/G snv 7.2E-05 5.6E-05
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.720 1.000 5 2000 2014
dbSNP: rs199472961
rs199472961
KCNH2
0.925 0.120 7 150951495 missense variant T/A;C snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 5 1998 2014