rs199473317, 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 38551003 missense variant T/C snv 0.730 1.000 23 1995 2018
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
349 0.882 0.120 3 38551003 missense variant T/C snv 0.030 1.000 3 2000 2010
Congenital long QT syndrome
CUI: C1141890
Disease: Congenital long QT syndrome
54 0.882 0.120 3 38551003 missense variant T/C snv 0.010 1.000 1 2000 2000