rs137854618, 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.
CARDIOMYOPATHY, DILATED, 1E
CUI: C1832680
Disease: CARDIOMYOPATHY, DILATED, 1E
11 0.742 0.120 3 38566426 missense variant C/A;T snv 8.0E-06 0.800 1.000 2 2004 2013
Brugada Syndrome 1
CUI: C4551804
Disease: Brugada Syndrome 1
234 0.742 0.120 3 38566426 missense variant C/A;T snv 8.0E-06 0.700 1.000 21 1998 2016
Brugada Syndrome (disorder)
CUI: C1142166
Disease: Brugada Syndrome (disorder)
201 0.742 0.120 3 38566426 missense variant C/A;T snv 8.0E-06 0.700 1.000 8 2003 2015
Hereditary bundle branch system defect
CUI: C1879286
Disease: Hereditary bundle branch system defect
16 0.742 0.120 3 38566426 missense variant C/A;T snv 8.0E-06 0.700 1.000 6 2001 2013
ATRIAL STANDSTILL 1
CUI: C4551959
Disease: ATRIAL STANDSTILL 1
3 0.742 0.120 3 38566426 missense variant C/A;T snv 8.0E-06 0.700 1.000 2 2003 2013
ATRIAL FIBRILLATION, FAMILIAL, 10
CUI: C3151464
Disease: ATRIAL FIBRILLATION, FAMILIAL, 10
17 0.742 0.120 3 38566426 missense variant C/A;T snv 8.0E-06 0.700 0
ATRIAL STANDSTILL 1, DIGENIC
CUI: C4016652
Disease: ATRIAL STANDSTILL 1, DIGENIC
1 0.742 0.120 3 38566426 missense variant C/A;T snv 8.0E-06 0.700 0
LONG QT SYNDROME 3
CUI: C1859062
Disease: LONG QT SYNDROME 3
157 0.742 0.120 3 38566426 missense variant C/A;T snv 8.0E-06 0.700 0
Cardiac Arrhythmia
CUI: C0003811
Disease: Cardiac Arrhythmia
111 0.742 0.120 3 38566426 missense variant C/A;T snv 8.0E-06 0.030 1.000 3 2006 2017
Cardiomyopathy, Dilated
CUI: C0007193
Disease: Cardiomyopathy, Dilated
509 0.742 0.120 3 38566426 missense variant C/A;T snv 8.0E-06 0.020 1.000 2 2011 2017
Sinus Node Dysfunction (disorder)
CUI: C0428908
Disease: Sinus Node Dysfunction (disorder)
7 0.742 0.120 3 38566426 missense variant C/A;T snv 8.0E-06 0.020 1.000 2 2011 2013
Cardiomyopathy, Familial Idiopathic
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
243 0.742 0.120 3 38566426 missense variant C/A;T snv 8.0E-06 0.010 1.000 1 2005 2005
Channelopathies
CUI: C1720983
Disease: Channelopathies
8 0.742 0.120 3 38566426 missense variant C/A;T snv 8.0E-06 0.010 1.000 1 2017 2017
Conduction disorder of the heart
CUI: C0264886
Disease: Conduction disorder of the heart
11 0.742 0.120 3 38566426 missense variant C/A;T snv 8.0E-06 0.010 1.000 1 2006 2006
Supraventricular arrhythmia
CUI: C0428974
Disease: Supraventricular arrhythmia
2 0.742 0.120 3 38566426 missense variant C/A;T snv 8.0E-06 0.010 1.000 1 2017 2017