rs121918604, 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 0.882 0.080 1 237798037 missense variant G/A;T snv 1.7E-05 0.810 1.000 20 2001 2018
Catecholaminergic Polymorphic Ventricular Tachycardia Type 1
CUI: C4053736
Disease: Catecholaminergic Polymorphic Ventricular Tachycardia Type 1
16 0.882 0.080 1 237798037 missense variant G/A;T snv 1.7E-05 0.700 0
Ventricular arrhythmia
CUI: C0085612
Disease: Ventricular arrhythmia
37 0.882 0.080 1 237798037 missense variant G/A;T snv 1.7E-05 0.010 1.000 1 2004 2004