rs398124650, CALM2

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.
LONG QT SYNDROME 15
CUI: C4015695
Disease: LONG QT SYNDROME 15
7 0.882 0.120 2 47161744 missense variant C/G;T snv 0.800 1.000 6 2013 2016
Congenital long QT syndrome
CUI: C1141890
Disease: Congenital long QT syndrome
54 0.882 0.120 2 47161744 missense variant C/G;T snv 0.010 1.000 1 2014 2014
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
CUI: C1631597
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
121 0.882 0.120 2 47161744 missense variant C/G;T snv 0.010 1.000 1 2014 2014