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: rs121918604
rs121918604
RYR2
0.882 0.080 1 237798037 missense variant G/A;T snv 1.7E-05
CUI: C1631597
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		0.810 1.000 20 2001 2018
dbSNP: rs121918604
rs121918604
RYR2
0.882 0.080 1 237798037 missense variant G/A;T snv 1.7E-05
CUI: C4053736
Disease: Catecholaminergic Polymorphic Ventricular Tachycardia Type 1
Catecholaminergic Polymorphic Ventricular Tachycardia Type 1 		0.700 0
dbSNP: rs121918604
rs121918604
RYR2
0.882 0.080 1 237798037 missense variant G/A;T snv 1.7E-05
CUI: C0085612
Disease: Ventricular arrhythmia
Ventricular arrhythmia 		0.010 1.000 1 2004 2004