rs28937317, SCN5A

N. diseases: 7
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
148 0.801 0.107 3 38560418 missense variant T/C snp 0.800 3 1995 2010
Congenital long QT syndrome
CUI: C1141890
Disease: Congenital long QT syndrome
223 0.801 0.107 3 38560418 missense variant T/C snp 0.700 10 1996 2012
LONG QT SYNDROME 2/3, DIGENIC
CUI: C3276240
Disease: LONG QT SYNDROME 2/3, DIGENIC
367 0.801 0.107 3 38560418 missense variant T/C snp 0.700 2 2005 2010
LONG QT SYNDROME 3, ACQUIRED, SUSCEPTIBILITY TO (finding)
141 0.801 0.107 3 38560418 missense variant T/C snp 0.700 2 2005 2010
LONG QT SYNDROME 3/6, DIGENIC Disorder
151 0.801 0.107 3 38560418 missense variant T/C snp 0.700 2 2005 2010
Cardiac fibrosis
CUI: C1397307
Disease: Cardiac fibrosis
4 0.801 0.107 3 38560418 missense variant T/C snp 0.010 1.000 1 2011 2011
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
236 0.801 0.107 3 38560418 missense variant T/C snp 0.010 1.000 1 2011 2011