rs45546039, SCN5A

N. diseases: 15
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 1
CUI: C4551804
Disease: Brugada Syndrome 1
234 0.732 0.120 3 38613781 missense variant C/A;T snv 4.1E-06 0.800 1.000 20 1998 2016
LONG QT SYNDROME 3
CUI: C1859062
Disease: LONG QT SYNDROME 3
157 0.732 0.120 3 38613781 missense variant C/A;T snv 4.1E-06 0.800 1.000 20 1995 2015
Cardiomyopathy, Dilated
CUI: C0007193
Disease: Cardiomyopathy, Dilated
509 0.732 0.120 3 38613781 missense variant C/A;T snv 4.1E-06 0.710 1.000 9 2008 2012
Brugada Syndrome (disorder)
CUI: C1142166
Disease: Brugada Syndrome (disorder)
201 0.732 0.120 3 38613781 missense variant C/A;T snv 4.1E-06 0.700 1.000 10 2005 2015
ATRIAL FIBRILLATION, FAMILIAL, 10
CUI: C3151464
Disease: ATRIAL FIBRILLATION, FAMILIAL, 10
17 0.732 0.120 3 38613781 missense variant C/A;T snv 4.1E-06 0.700 0
CARDIOMYOPATHY, DILATED, 1E
CUI: C1832680
Disease: CARDIOMYOPATHY, DILATED, 1E
11 0.732 0.120 3 38613781 missense variant C/A;T snv 4.1E-06 0.700 0
Hereditary bundle branch system defect
CUI: C1879286
Disease: Hereditary bundle branch system defect
16 0.732 0.120 3 38613781 missense variant C/A;T snv 4.1E-06 0.700 0
SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE
CUI: C1837845
Disease: SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE
10 0.732 0.120 3 38613781 missense variant C/A;T snv 4.1E-06 0.700 0
Sudden infant death syndrome
CUI: C0038644
Disease: Sudden infant death syndrome
68 0.732 0.120 3 38613781 missense variant C/A;T snv 4.1E-06 0.700 0
Ventricular Fibrillation, Paroxysmal Familial, 1
CUI: C2751898
Disease: Ventricular Fibrillation, Paroxysmal Familial, 1
8 0.732 0.120 3 38613781 missense variant C/A;T snv 4.1E-06 0.700 0
Cardiomyopathies
CUI: C0878544
Disease: Cardiomyopathies
294 0.732 0.120 3 38613781 missense variant C/A;T snv 4.1E-06 0.010 1.000 1 2012 2012
Cardiomyopathy, Familial Idiopathic
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
243 0.732 0.120 3 38613781 missense variant C/A;T snv 4.1E-06 0.010 1.000 1 2012 2012
Familial dilated cardiomyopathy
CUI: C0340427
Disease: Familial dilated cardiomyopathy
47 0.732 0.120 3 38613781 missense variant C/A;T snv 4.1E-06 0.010 1.000 1 2018 2018
Premature ventricular contractions
CUI: C0151636
Disease: Premature ventricular contractions
13 0.732 0.120 3 38613781 missense variant C/A;T snv 4.1E-06 0.010 1.000 1 2012 2012
Ventricular arrhythmia
CUI: C0085612
Disease: Ventricular arrhythmia
37 0.732 0.120 3 38613781 missense variant C/A;T snv 4.1E-06 0.010 1.000 1 2018 2018