rs794728846, 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 (disorder)
CUI: C1142166
Disease: Brugada Syndrome (disorder)
201 0.925 0.120 3 38620972 splice acceptor variant C/T snv 0.700 0
Congenital long QT syndrome
CUI: C1141890
Disease: Congenital long QT syndrome
54 0.925 0.120 3 38620972 splice acceptor variant C/T snv 0.700 0