rs199473207, SCN5A

N. diseases: 2
Source: UNIPROT ×
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
217 0.882 0.120 3 38566555 missense variant G/A snv 0.700 1.000 24 1998 2017
Hereditary bundle branch system defect
CUI: C1879286
Disease: Hereditary bundle branch system defect
10 0.882 0.120 3 38566555 missense variant G/A snv 0.700 1.000 6 2001 2013