rs137854600, SCN5A

N. diseases: 6
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 0.807 0.120 3 38551504 missense variant C/A;T snv 0.840 1.000 27 1995 2017
Brugada Syndrome 1
CUI: C4551804
Disease: Brugada Syndrome 1
234 0.807 0.120 3 38551504 missense variant C/A;T snv 0.700 1.000 21 1998 2016
Brugada Syndrome (disorder)
CUI: C1142166
Disease: Brugada Syndrome (disorder)
201 0.807 0.120 3 38551504 missense variant C/A;T snv 0.700 1.000 7 1998 2010
LONG QT SYNDROME 3/6, DIGENIC Disorder
CUI: C3276241
Disease: LONG QT SYNDROME 3/6, DIGENIC Disorder
2 0.807 0.120 3 38551504 missense variant C/A;T snv 0.700 0
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
349 0.807 0.120 3 38551504 missense variant C/A;T snv 0.040 1.000 4 1998 2004
Ventricular arrhythmia
CUI: C0085612
Disease: Ventricular arrhythmia
37 0.807 0.120 3 38551504 missense variant C/A;T snv 0.010 1.000 1 2004 2004