rs199473320, SCN5A

N. diseases: 3
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 38550878 missense variant G/C snv 6.0E-05 4.0E-04 0.700 1.000 21 1998 2016
Brugada Syndrome (disorder)
CUI: C1142166
Disease: Brugada Syndrome (disorder)
201 0.882 0.120 3 38550878 missense variant G/C snv 6.0E-05 4.0E-04 0.010 1.000 1 2017 2017
Sudden infant death syndrome
CUI: C0038644
Disease: Sudden infant death syndrome
68 0.882 0.120 3 38550878 missense variant G/C snv 6.0E-05 4.0E-04 0.010 1.000 1 2017 2017