rs121918598, RYR2

N. diseases: 4
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 0.851 0.080 1 237648523 missense variant G/A;C snv 0.720 1.000 21 2001 2019
Catecholaminergic Polymorphic Ventricular Tachycardia Type 1
CUI: C4053736
Disease: Catecholaminergic Polymorphic Ventricular Tachycardia Type 1
16 0.851 0.080 1 237648523 missense variant G/A;C snv 0.700 0
Congestive heart failure
CUI: C0018802
Disease: Congestive heart failure
165 0.851 0.080 1 237648523 missense variant G/A;C snv 0.010 1.000 1 2018 2018
Heart failure
CUI: C0018801
Disease: Heart failure
201 0.851 0.080 1 237648523 missense variant G/A;C snv 0.010 1.000 1 2018 2018