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: 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: 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: rs121912507
rs121912507
KCNH2
0.882 0.120 7 150951511 missense variant C/G;T snv
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.020 1.000 2 2010 2017
dbSNP: rs121912507
rs121912507
KCNH2
0.882 0.120 7 150951511 missense variant C/G;T snv
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.010 1.000 1 2008 2008