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: rs794728721
rs794728721
RYR2
0.925 0.080 1 237445489 missense variant G/A snv
CUI: C1631597
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		0.020 1.000 2 2015 2017
dbSNP: rs794728721
rs794728721
RYR2
0.925 0.080 1 237445489 missense variant G/A snv
CUI: C2677794
Disease: Stress-induced polymorphic ventricular tachycardia
Stress-induced polymorphic ventricular tachycardia 		0.010 1.000 1 2015 2015
dbSNP: rs794728721
rs794728721
RYR2
0.925 0.080 1 237445489 missense variant G/A snv
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.010 1.000 1 2017 2017