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: rs199472954
rs199472954
KCNH2
0.882 0.120 7 150951514 missense variant A/G;T snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.010 1.000 1 2008 2008
dbSNP: rs199472954
rs199472954
KCNH2
0.882 0.120 7 150951514 missense variant A/G;T snv
CUI: C0004245
Disease: Atrioventricular Block
Atrioventricular Block 		0.010 1.000 1 2008 2008
dbSNP: rs199472954
rs199472954
KCNH2
0.882 0.120 7 150951514 missense variant A/G;T snv
CUI: C0042514
Disease: Tachycardia, Ventricular
Tachycardia, Ventricular 		0.010 1.000 1 2008 2008