rs121918602, RYR2

N. diseases: 3
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
CUI: C1631597
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
121 0.925 0.120 1 237454396 missense variant T/C snv 0.800 1.000 21 2001 2016
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2
CUI: C1832931
Disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2
5 0.925 0.120 1 237454396 missense variant T/C snv 0.800 1.000 1 2001 2001
Cardiac Arrhythmia
CUI: C0003811
Disease: Cardiac Arrhythmia
111 0.925 0.120 1 237454396 missense variant T/C snv 0.010 1.000 1 2015 2015