rs137854614, 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 38550988 missense variant T/C snv 0.810 1.000 25 1995 2017
Brugada Syndrome (disorder)
CUI: C1142166
Disease: Brugada Syndrome (disorder)
201 0.882 0.120 3 38550988 missense variant T/C snv 0.720 1.000 5 2001 2008
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
349 0.882 0.120 3 38550988 missense variant T/C snv 0.010 1.000 1 2006 2006