Source: BEFREE

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: 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 3 1995 2017
dbSNP: rs121912507
rs121912507
KCNH2
0.882 0.120 7 150951511 missense variant C/G;T snv
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.820 1.000 2 1995 2019
dbSNP: rs199473529
rs199473529
KCNH2
1.000 0.120 7 150951475 missense variant A/C;G snv
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.720 1.000 2 1995 2009
dbSNP: rs121912504
rs121912504
KCNH2
0.851 0.200 7 150951711 missense variant G/A snv
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.810 1.000 1 1995 2014
dbSNP: rs121912505
rs121912505
KCNH2
1.000 0.120 7 150952574 missense variant T/C snv
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.810 1.000 1 1995 2017
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 1 1995 2013
dbSNP: rs199472999
rs199472999
KCNH2
0.925 0.120 7 150949034 missense variant A/C;G snv
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.710 1.000 1 1995 2009
dbSNP: rs199473522
rs199473522
KCNH2
0.882 0.120 7 150951583 missense variant C/T snv
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.710 1.000 1 1995 2017
dbSNP: rs199473545
rs199473545
KCNH2
1.000 0.120 7 150946929 missense variant G/A;C snv 3.3E-05; 4.1E-06
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.710 1.000 1 1995 2016
dbSNP: rs28928904
rs28928904
KCNH2
0.925 0.120 7 150951615 missense variant A/C;G;T snv 4.0E-06
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.720 1.000 2 1996 2005
dbSNP: rs199472921
rs199472921
KCNH2
0.882 0.120 7 150951712 missense variant C/G;T snv
CUI: C0741923
Disease: cardiac event
cardiac event 		0.010 1.000 1 1996 1996
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 1 1998 2019
dbSNP: rs199472830
rs199472830
KCNH2
0.925 0.120 7 150974931 missense variant G/T snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.030 1.000 3 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 1 1999 2015
dbSNP: rs199472936
rs199472936
KCNH2
0.882 0.120 7 150951592 missense variant C/A;T snv
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.010 1.000 1 1999 1999
dbSNP: rs199472936
rs199472936
KCNH2
0.882 0.120 7 150951592 missense variant C/A;T snv
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.010 1.000 1 1999 1999
dbSNP: rs199472936
rs199472936
KCNH2
0.882 0.120 7 150951592 missense variant C/A;T snv
CUI: C1560249
Disease: Adverse Event Associated with Cardiac Arrhythmia
Adverse Event Associated with Cardiac Arrhythmia 		0.010 1.000 1 1999 1999
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 1 1999 2014
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 2 2000 2014
dbSNP: rs9333649
rs9333649
KCNH2
0.882 0.200 7 150951679 missense variant C/A;G;T snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.720 1.000 2 2000 2016
dbSNP: rs199472924
rs199472924
KCNH2
0.925 0.120 7 150951702 missense variant A/G;T snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.710 1.000 1 2000 2000
dbSNP: rs199473428
rs199473428
KCNH2
0.851 0.120 7 150951643 missense variant C/A;G;T snv 8.0E-06
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.710 1.000 1 2000 2019
dbSNP: rs9333649
rs9333649
KCNH2
0.882 0.200 7 150951679 missense variant C/A;G;T snv
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		0.010 1.000 1 2000 2000
dbSNP: rs28928905
rs28928905
KCNH2
0.851 0.120 7 150952514 missense variant C/G;T snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.730 1.000 3 2001 2013
dbSNP: rs121912511
rs121912511
KCNH2
0.925 0.120 7 150974825 missense variant T/G snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.010 1.000 1 2002 2002