Source: ALL

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: rs764772142
rs764772142
RYR2
0.925 0.080 1 237377349 missense variant C/A;T snv 8.0E-06
CUI: C1631597
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		0.710 1.000 15 2001 2019
dbSNP: rs764772142
rs764772142
RYR2
0.925 0.080 1 237377349 missense variant C/A;T snv 8.0E-06
CUI: C0085612
Disease: Ventricular arrhythmia
Ventricular arrhythmia 		0.010 1.000 1 2019 2019