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: rs121918602
rs121918602
RYR2
0.925 0.120 1 237454396 missense variant T/C snv
CUI: C1631597
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		0.800 1.000 21 2001 2016
dbSNP: rs121918602
rs121918602
RYR2
0.925 0.120 1 237454396 missense variant T/C snv
CUI: C1832931
Disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2 		0.800 1.000 1 2001 2001
dbSNP: rs121918602
rs121918602
RYR2
0.925 0.120 1 237454396 missense variant T/C snv
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.010 1.000 1 2015 2015