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: 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: 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: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.010 1.000 1 1999 1999