rs121918606, 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 0.080 1 237819181 missense variant C/G snv 0.720 1.000 21 2001 2017
Catecholaminergic Polymorphic Ventricular Tachycardia Type 1
CUI: C4053736
Disease: Catecholaminergic Polymorphic Ventricular Tachycardia Type 1
16 0.925 0.080 1 237819181 missense variant C/G snv 0.700 0
Cardiac Arrhythmia
CUI: C0003811
Disease: Cardiac Arrhythmia
111 0.925 0.080 1 237819181 missense variant C/G snv 0.010 1.000 1 2015 2015