rs199473282, SCN5A

N. diseases: 5
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Brugada Syndrome (disorder)
CUI: C1142166
Disease: Brugada Syndrome (disorder)
0.740 GeneticVariation BEFREE Expression and intracellular localization of an SCN5A double mutant R1232W/T1620M implicated in Brugada syndrome. 11786529 2002
Brugada Syndrome (disorder)
CUI: C1142166
Disease: Brugada Syndrome (disorder)
0.740 GeneticVariation CLINVAR Cardiac Na(+) channel dysfunction in Brugada syndrome is aggravated by beta(1)-subunit. 10618304 2000
Brugada Syndrome (disorder)
CUI: C1142166
Disease: Brugada Syndrome (disorder)
0.740 GeneticVariation CLINVAR An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. 20129283 2010
Brugada Syndrome (disorder)
CUI: C1142166
Disease: Brugada Syndrome (disorder)
0.740 GeneticVariation CLINVAR Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics. 23785128 2013
Brugada Syndrome (disorder)
CUI: C1142166
Disease: Brugada Syndrome (disorder)
0.740 GeneticVariation CLINVAR UniProt: a hub for protein information. 25348405 2015
Brugada Syndrome (disorder)
CUI: C1142166
Disease: Brugada Syndrome (disorder)
0.740 GeneticVariation BEFREE SCN5A mutation (T1620M) causing Brugada syndrome exhibits different phenotypes when expressed in Xenopus oocytes and mammalian cells. 10664447 2000
Brugada Syndrome (disorder)
CUI: C1142166
Disease: Brugada Syndrome (disorder)
0.740 GeneticVariation CLINVAR Accelerated inactivation in a mutant Na(+) channel associated with idiopathic ventricular fibrillation. 11123251 2001
Brugada Syndrome (disorder)
CUI: C1142166
Disease: Brugada Syndrome (disorder)
0.740 GeneticVariation CLINVAR Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent. 10532948 1999
Brugada Syndrome (disorder)
CUI: C1142166
Disease: Brugada Syndrome (disorder)
0.740 GeneticVariation BEFREE The biophysical properties of the SCN5A mutation T1620M associated with Brugada syndrome were examined for defects in intermediate inactivation (I:(M)), a gating process in Na(+) channels with kinetic features intermediate between fast and slow inactivation. 11029409 2000
Brugada Syndrome (disorder)
CUI: C1142166
Disease: Brugada Syndrome (disorder)
0.740 GeneticVariation CLINVAR A mutant cardiac sodium channel with multiple biophysical defects associated with overlapping clinical features of Brugada syndrome and cardiac conduction disease. 11827685 2002
Brugada Syndrome (disorder)
CUI: C1142166
Disease: Brugada Syndrome (disorder)
0.740 GeneticVariation BEFREE Absence of a trafficking defect in R1232W/T1620M, a double SCN5A mutant responsible for Brugada syndrome. 18503232 2008
Brugada Syndrome (disorder)
CUI: C1142166
Disease: Brugada Syndrome (disorder)
0.740 GeneticVariation CLINVAR Value of electrocardiographic parameters and ajmaline test in the diagnosis of Brugada syndrome caused by SCN5A mutations. 15520322 2004
Brugada Syndrome (disorder)
CUI: C1142166
Disease: Brugada Syndrome (disorder)
0.740 GeneticVariation CLINVAR Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. 9521325 1998
Brugada Syndrome (disorder)
CUI: C1142166
Disease: Brugada Syndrome (disorder)
0.740 GeneticVariation CLINVAR The biophysical properties of the SCN5A mutation T1620M associated with Brugada syndrome were examined for defects in intermediate inactivation (I:(M)), a gating process in Na(+) channels with kinetic features intermediate between fast and slow inactivation. 11029409 2000
Brugada Syndrome 1
CUI: C4551804
Disease: Brugada Syndrome 1
0.800 GeneticVariation UNIPROT Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. 9521325 1998
Brugada Syndrome 1
CUI: C4551804
Disease: Brugada Syndrome 1
0.800 GeneticVariation UNIPROT A novel SCN5A mutation, F1344S, identified in a patient with Brugada syndrome and fever-induced ventricular fibrillation. 16616735 2006
Brugada Syndrome 1
CUI: C4551804
Disease: Brugada Syndrome 1
0.800 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
0.800 GeneticVariation UNIPROT Analyses of a novel SCN5A mutation (C1850S): conduction vs. repolarization disorder hypotheses in the Brugada syndrome. 18252757 2008
Brugada Syndrome 1
CUI: C4551804
Disease: Brugada Syndrome 1
0.800 CausalMutation CLINVAR
Brugada Syndrome 1
CUI: C4551804
Disease: Brugada Syndrome 1
0.800 GeneticVariation UNIPROT Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes. 23994779 2013
Brugada Syndrome 1
CUI: C4551804
Disease: Brugada Syndrome 1
0.800 GeneticVariation UNIPROT Nav1.5 E1053K mutation causing Brugada syndrome blocks binding to ankyrin-G and expression of Nav1.5 on the surface of cardiomyocytes. 15579534 2004
Brugada Syndrome 1
CUI: C4551804
Disease: Brugada Syndrome 1
0.800 GeneticVariation UNIPROT High risk for bradyarrhythmic complications in patients with Brugada syndrome caused by SCN5A gene mutations. 16325048 2005
Brugada Syndrome 1
CUI: C4551804
Disease: Brugada Syndrome 1
0.800 GeneticVariation UNIPROT [Novel SCN5A gene mutations associated with Brugada syndrome: V95I, A1649V and delF1617]. 17081365 2006
Brugada Syndrome 1
CUI: C4551804
Disease: Brugada Syndrome 1
0.800 GeneticVariation UNIPROT The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome. 18451998 2008
Brugada Syndrome 1
CUI: C4551804
Disease: Brugada Syndrome 1
0.800 GeneticVariation UNIPROT Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent. 10532948 1999