rs137854618, SCN5A

N. diseases: 15
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
CARDIOMYOPATHY, DILATED, 1E
CUI: C1832680
Disease: CARDIOMYOPATHY, DILATED, 1E
0.800 CausalMutation CLINVAR
ATRIAL STANDSTILL 1, DIGENIC
CUI: C4016652
Disease: ATRIAL STANDSTILL 1, DIGENIC
0.700 CausalMutation CLINVAR
Brugada Syndrome (disorder)
CUI: C1142166
Disease: Brugada Syndrome (disorder)
0.700 CausalMutation CLINVAR Striking In vivo phenotype of a disease-associated human SCN5A mutation producing minimal changes in vitro. 21824921 2011
Brugada Syndrome (disorder)
CUI: C1142166
Disease: Brugada Syndrome (disorder)
0.700 CausalMutation CLINVAR A transgenic zebrafish model of a human cardiac sodium channel mutation exhibits bradycardia, conduction-system abnormalities and early death. 23791817 2013
Brugada Syndrome (disorder)
CUI: C1142166
Disease: Brugada Syndrome (disorder)
0.700 CausalMutation CLINVAR A connexin40 mutation associated with a malignant variant of progressive familial heart block type I. 22247482 2012
LONG QT SYNDROME 3
CUI: C1859062
Disease: LONG QT SYNDROME 3
0.700 CausalMutation CLINVAR
Brugada Syndrome (disorder)
CUI: C1142166
Disease: Brugada Syndrome (disorder)
0.700 CausalMutation CLINVAR Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia. 24136861 2014
Brugada Syndrome (disorder)
CUI: C1142166
Disease: Brugada Syndrome (disorder)
0.700 CausalMutation CLINVAR Sodium channelopathy underlying familial sick sinus syndrome with early onset and predominantly male characteristics. 24762805 2014
ATRIAL FIBRILLATION, FAMILIAL, 10
CUI: C3151464
Disease: ATRIAL FIBRILLATION, FAMILIAL, 10
0.700 CausalMutation CLINVAR
Brugada Syndrome (disorder)
CUI: C1142166
Disease: Brugada Syndrome (disorder)
0.700 CausalMutation CLINVAR SCN5A mutations associate with arrhythmic dilated cardiomyopathy and commonly localize to the voltage-sensing mechanism. 21596231 2011
Brugada Syndrome (disorder)
CUI: C1142166
Disease: Brugada Syndrome (disorder)
0.700 CausalMutation CLINVAR A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill. 12522116 2003
Brugada Syndrome (disorder)
CUI: C1142166
Disease: Brugada Syndrome (disorder)
0.700 CausalMutation CLINVAR Loss-of-Function SCN5A Mutations Associated With Sinus Node Dysfunction, Atrial Arrhythmias, and Poor Pacemaker Capture. 26111534 2015
CARDIOMYOPATHY, DILATED, 1E
CUI: C1832680
Disease: CARDIOMYOPATHY, DILATED, 1E
0.800 GeneticVariation UNIPROT MOG1 rescues defective trafficking of Na(v)1.5 mutations in Brugada syndrome and sick sinus syndrome. 23420830 2013
CARDIOMYOPATHY, DILATED, 1E
CUI: C1832680
Disease: CARDIOMYOPATHY, DILATED, 1E
0.800 GeneticVariation UNIPROT SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia. 15466643 2004
Brugada Syndrome 1
CUI: C4551804
Disease: Brugada Syndrome 1
0.700 GeneticVariation UNIPROT Subepicardial phase 0 block and discontinuous transmural conduction underlie right precordial ST-segment elevation by a SCN5A loss-of-function mutation. 18456723 2008
Brugada Syndrome 1
CUI: C4551804
Disease: Brugada Syndrome 1
0.700 GeneticVariation UNIPROT Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes. 23994779 2013
ATRIAL STANDSTILL 1
CUI: C4551959
Disease: ATRIAL STANDSTILL 1
0.700 GeneticVariation UNIPROT MOG1 rescues defective trafficking of Na(v)1.5 mutations in Brugada syndrome and sick sinus syndrome. 23420830 2013
Brugada Syndrome 1
CUI: C4551804
Disease: Brugada Syndrome 1
0.700 GeneticVariation UNIPROT A sodium channel pore mutation causing Brugada syndrome. 17198989 2007
Hereditary bundle branch system defect
CUI: C1879286
Disease: Hereditary bundle branch system defect
0.700 GeneticVariation UNIPROT A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation. 12569159 2003
Brugada Syndrome 1
CUI: C4551804
Disease: Brugada Syndrome 1
0.700 GeneticVariation UNIPROT Analyses of a novel SCN5A mutation (C1850S): conduction vs. repolarization disorder hypotheses in the Brugada syndrome. 18252757 2008
Hereditary bundle branch system defect
CUI: C1879286
Disease: Hereditary bundle branch system defect
0.700 GeneticVariation UNIPROT MOG1 rescues defective trafficking of Na(v)1.5 mutations in Brugada syndrome and sick sinus syndrome. 23420830 2013
Brugada Syndrome 1
CUI: C4551804
Disease: Brugada Syndrome 1
0.700 GeneticVariation UNIPROT De Novo Mutation in the SCN5A Gene Associated with Brugada Syndrome. 26279430 2015
Hereditary bundle branch system defect
CUI: C1879286
Disease: Hereditary bundle branch system defect
0.700 GeneticVariation UNIPROT A sodium-channel mutation causes isolated cardiac conduction disease. 11234013 2001
Brugada Syndrome 1
CUI: C4551804
Disease: Brugada Syndrome 1
0.700 GeneticVariation UNIPROT Novel Brugada syndrome-causing mutation in ion-conducting pore of cardiac Na+ channel does not affect ion selectivity properties. 16266370 2005
Brugada Syndrome 1
CUI: C4551804
Disease: Brugada Syndrome 1
0.700 GeneticVariation UNIPROT The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome. 18451998 2008