Source: CURATED

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: rs120074187
rs120074187
KCNQ1
0.882 0.120 11 2572963 missense variant G/A snv 4.8E-05 2.1E-05
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.800 1.000 24 1996 2017
dbSNP: rs120074187
rs120074187
KCNQ1
0.882 0.120 11 2572963 missense variant G/A snv 4.8E-05 2.1E-05
CUI: C0085612
Disease: Ventricular arrhythmia
Ventricular arrhythmia 		0.700 0