rs121918600, RYR2

N. diseases: 5
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 237791441 missense variant C/T snv 0.850 1.000 19 2001 2017
Catecholaminergic Polymorphic Ventricular Tachycardia Type 1
CUI: C4053736
Disease: Catecholaminergic Polymorphic Ventricular Tachycardia Type 1
16 0.882 0.080 1 237791441 missense variant C/T snv 0.700 0
Caffeine related disorders
CUI: C0236734
Disease: Caffeine related disorders
56 0.882 0.080 1 237791441 missense variant C/T snv 0.010 1.000 1 2002 2002
Premature ventricular contractions
CUI: C0151636
Disease: Premature ventricular contractions
13 0.882 0.080 1 237791441 missense variant C/T snv 0.010 1.000 1 2013 2013
Ventricular arrhythmia
CUI: C0085612
Disease: Ventricular arrhythmia
37 0.882 0.080 1 237791441 missense variant C/T snv 0.010 1.000 1 2013 2013