rs199473573, SCN5A

N. diseases: 2
Source: CURATED ×
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 38604007 missense variant A/C snv 1.6E-05 7.0E-06 0.700 1.000 20 1998 2016
Sudden infant death syndrome
CUI: C0038644
Disease: Sudden infant death syndrome
13 0.925 0.120 3 38604007 missense variant A/C snv 1.6E-05 7.0E-06 0.700 1.000 2 2008 2009