rs199473051, SCN5A

N. diseases: 2
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 0.925 0.120 3 38633058 missense variant C/T snv 0.700 1.000 21 1998 2016
Congenital long QT syndrome
CUI: C1141890
Disease: Congenital long QT syndrome
54 0.925 0.120 3 38633058 missense variant C/T snv 0.010 1 2013 2013