rs199473133, 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.
LONG QT SYNDROME 3
CUI: C1859062
Disease: LONG QT SYNDROME 3
157 0.882 0.120 3 38603747 missense variant G/A snv 3.1E-05 6.3E-05 0.710 1.000 25 1995 2017
Brugada Syndrome 1
CUI: C4551804
Disease: Brugada Syndrome 1
234 0.882 0.120 3 38603747 missense variant G/A snv 3.1E-05 6.3E-05 0.700 1.000 21 1998 2016
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
349 0.882 0.120 3 38603747 missense variant G/A snv 3.1E-05 6.3E-05 0.010 1.000 1 2003 2003