rs137854606, SCN5A

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.
Brugada Syndrome 1
CUI: C4551804
Disease: Brugada Syndrome 1
234 0.882 0.120 3 38604062 missense variant C/A snv 0.700 1.000 20 1998 2016
Hereditary bundle branch system defect
CUI: C1879286
Disease: Hereditary bundle branch system defect
16 0.882 0.120 3 38604062 missense variant C/A snv 0.700 1.000 6 2001 2013
Cardiac Conduction Defect, Nonprogressive
CUI: C1861984
Disease: Cardiac Conduction Defect, Nonprogressive
1 0.882 0.120 3 38604062 missense variant C/A snv 0.700 0
Cardiac Arrhythmia
CUI: C0003811
Disease: Cardiac Arrhythmia
111 0.882 0.120 3 38604062 missense variant C/A snv 0.010 1.000 1 2001 2001