rs199473631, SCN5A

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 3
CUI: C1859062
Disease: LONG QT SYNDROME 3
157 0.925 0.120 3 38551085 missense variant C/T snv 0.710 1.000 21 1995 2015
Cardiac Arrhythmia
CUI: C0003811
Disease: Cardiac Arrhythmia
111 0.925 0.120 3 38551085 missense variant C/T snv 0.010 1.000 1 2004 2004
Congenital long QT syndrome
CUI: C1141890
Disease: Congenital long QT syndrome
54 0.925 0.120 3 38551085 missense variant C/T snv 0.010 1.000 1 2004 2004