rs41310765, 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.
Cardiomyopathy, Dilated
CUI: C0007193
Disease: Cardiomyopathy, Dilated
509 0.882 0.120 3 38575424 missense variant G/A snv 1.4E-04 7.7E-05 0.030 1.000 3 2008 2014
Atrioventricular Block
CUI: C0004245
Disease: Atrioventricular Block
17 0.882 0.120 3 38575424 missense variant G/A snv 1.4E-04 7.7E-05 0.020 1.000 2 2008 2013
Cardiomyopathy, Familial Idiopathic
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
243 0.882 0.120 3 38575424 missense variant G/A snv 1.4E-04 7.7E-05 0.010 1.000 1 2013 2013
Heart Diseases
CUI: C0018799
Disease: Heart Diseases
45 0.882 0.120 3 38575424 missense variant G/A snv 1.4E-04 7.7E-05 0.010 1.000 1 2008 2008
LONG QT SYNDROME 3
CUI: C1859062
Disease: LONG QT SYNDROME 3
157 0.882 0.120 3 38575424 missense variant G/A snv 1.4E-04 7.7E-05 0.010 1.000 1 2014 2014