rs199473282, SCN5A

N. diseases: 5
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.
Hereditary bundle branch system defect
16 0.827 0.120 3 38551513 missense variant G/A;T snv 4.0E-06 0.700 1.000 6 2001 2013
LONG QT SYNDROME 3
CUI: C1859062
Disease: LONG QT SYNDROME 3
157 0.827 0.120 3 38551513 missense variant G/A;T snv 4.0E-06 0.700 1.000 20 1995 2015
Brugada Syndrome (disorder)
CUI: C1142166
Disease: Brugada Syndrome (disorder)
201 0.827 0.120 3 38551513 missense variant G/A;T snv 4.0E-06 0.740 1.000 13 1998 2015
Brugada Syndrome 1
CUI: C4551804
Disease: Brugada Syndrome 1
234 0.827 0.120 3 38551513 missense variant G/A;T snv 4.0E-06 0.800 1.000 21 1998 2016
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
349 0.827 0.120 3 38551513 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2008 2008