rs199473225, SCN5A

N. diseases: 6
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 0.851 0.120 3 38560397 missense variant G/A;C snv 0.710 1.000 21 1995 2018
Brugada Syndrome 1
CUI: C4551804
Disease: Brugada Syndrome 1
234 0.851 0.120 3 38560397 missense variant G/A;C snv 0.700 1.000 21 1998 2016
Brugada Syndrome (disorder)
CUI: C1142166
Disease: Brugada Syndrome (disorder)
201 0.851 0.120 3 38560397 missense variant G/A;C snv 0.700 1.000 1 2007 2007
Cardiac Arrhythmia
CUI: C0003811
Disease: Cardiac Arrhythmia
111 0.851 0.120 3 38560397 missense variant G/A;C snv 0.010 1.000 1 2007 2007
Conduction disorder of the heart
CUI: C0264886
Disease: Conduction disorder of the heart
11 0.851 0.120 3 38560397 missense variant G/A;C snv 0.010 1 2018 2018
Congenital long QT syndrome
CUI: C1141890
Disease: Congenital long QT syndrome
54 0.851 0.120 3 38560397 missense variant G/A;C snv 0.010 1.000 1 2018 2018