rs137854607, 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
CUI: C1879286
Disease: Hereditary bundle branch system defect
16 0.882 0.120 3 38554309 missense variant C/G;T snv 0.800 1.000 6 2001 2013
Brugada Syndrome (disorder)
CUI: C1142166
Disease: Brugada Syndrome (disorder)
201 0.882 0.120 3 38554309 missense variant C/G;T snv 0.700 1.000 5 2002 2012
CARDIOMYOPATHY, DILATED, 1E
CUI: C1832680
Disease: CARDIOMYOPATHY, DILATED, 1E
11 0.882 0.120 3 38554309 missense variant C/G;T snv 0.700 0
Cardiomyopathies
CUI: C0878544
Disease: Cardiomyopathies
294 0.882 0.120 3 38554309 missense variant C/G;T snv 0.010 1.000 1 2008 2008
Heart Diseases
CUI: C0018799
Disease: Heart Diseases
45 0.882 0.120 3 38554309 missense variant C/G;T snv 0.010 1.000 1 2005 2005