rs1805124, SCN5A

N. diseases: 16
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.
Brugada Syndrome (disorder)
CUI: C1142166
Disease: Brugada Syndrome (disorder)
201 0.742 0.280 3 38603929 missense variant T/C snv 0.22 0.25 0.040 1.000 4 2004 2017
Atrial Fibrillation
CUI: C0004238
Disease: Atrial Fibrillation
584 0.742 0.280 3 38603929 missense variant T/C snv 0.22 0.25 0.030 1.000 3 2009 2019
Acquired long QT syndrome
CUI: C2732979
Disease: Acquired long QT syndrome
8 0.742 0.280 3 38603929 missense variant T/C snv 0.22 0.25 0.010 1.000 1 2002 2002
Andersen Syndrome
CUI: C1563715
Disease: Andersen Syndrome
38 0.742 0.280 3 38603929 missense variant T/C snv 0.22 0.25 0.010 1.000 1 2016 2016
Cardiomyopathy, Dilated
CUI: C0007193
Disease: Cardiomyopathy, Dilated
509 0.742 0.280 3 38603929 missense variant T/C snv 0.22 0.25 0.010 1.000 1 2018 2018
Cardiomyopathy, Familial Idiopathic
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
243 0.742 0.280 3 38603929 missense variant T/C snv 0.22 0.25 0.010 1.000 1 2018 2018
Complete right bundle branch block
CUI: C0344422
Disease: Complete right bundle branch block
1 0.742 0.280 3 38603929 missense variant T/C snv 0.22 0.25 0.010 1.000 1 2014 2014
Conduction disorder of the heart
CUI: C0264886
Disease: Conduction disorder of the heart
11 0.742 0.280 3 38603929 missense variant T/C snv 0.22 0.25 0.010 1.000 1 2015 2015
Familial dilated cardiomyopathy
CUI: C0340427
Disease: Familial dilated cardiomyopathy
47 0.742 0.280 3 38603929 missense variant T/C snv 0.22 0.25 0.010 1.000 1 2018 2018
Gitelman Syndrome
CUI: C0268450
Disease: Gitelman Syndrome
120 0.742 0.280 3 38603929 missense variant T/C snv 0.22 0.25 0.010 1.000 1 2018 2018
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
1085 0.742 0.280 3 38603929 missense variant T/C snv 0.22 0.25 0.010 1.000 1 2019 2019
Isovaleryl-CoA dehydrogenase deficiency
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
55 0.742 0.280 3 38603929 missense variant T/C snv 0.22 0.25 0.010 1.000 1 2008 2008
Keshan disease
CUI: C0268095
Disease: Keshan disease
1 0.742 0.280 3 38603929 missense variant T/C snv 0.22 0.25 0.010 1.000 1 2014 2014
Premature ventricular contractions
CUI: C0151636
Disease: Premature ventricular contractions
13 0.742 0.280 3 38603929 missense variant T/C snv 0.22 0.25 0.010 1.000 1 2008 2008
Sick Sinus Syndrome
CUI: C0037052
Disease: Sick Sinus Syndrome
7 0.742 0.280 3 38603929 missense variant T/C snv 0.22 0.25 0.010 1.000 1 2010 2010
Ventricular tachycardia, polymorphic
CUI: C0344432
Disease: Ventricular tachycardia, polymorphic
11 0.742 0.280 3 38603929 missense variant T/C snv 0.22 0.25 0.010 1.000 1 2016 2016