Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11708996
rs11708996
0.820 GeneticVariation BEFREE <b>Introduction:</b> A previous genome-wide association study found three genetic loci, rs9388451, rs10428132, and rs11708996, to increase the risk of Brugada Syndrome (BrS). 30042696

2018

dbSNP: rs11708996
rs11708996
0.820 GeneticVariation BEFREE We investigated whether three single-nucleotide polymorphisms (SNPs) (rs11708996; G>C located intronic to SCN5A, rs10428132; T>G located in SCN10A, and rs9388451; T>C located downstream to HEY2) at loci associated with BrS in a recent genome-wide association study (GWAS) also were associated with AF. 24667784

2014

dbSNP: rs11708996
rs11708996
C 0.820 GeneticVariation GWASDB Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death. 23872634

2013

dbSNP: rs11708996
rs11708996
C 0.820 GeneticVariation GWASCAT Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death. 23872634

2013

dbSNP: rs199473282
rs199473282
A 0.740 GeneticVariation CLINVAR UniProt: a hub for protein information. 25348405

2015

dbSNP: rs199473282
rs199473282
A 0.740 GeneticVariation CLINVAR Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics. 23785128

2013

dbSNP: rs199473282
rs199473282
A 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

dbSNP: rs199473282
rs199473282
0.740 GeneticVariation BEFREE Absence of a trafficking defect in R1232W/T1620M, a double SCN5A mutant responsible for Brugada syndrome. 18503232

2008

dbSNP: rs199473282
rs199473282
A 0.740 GeneticVariation CLINVAR Value of electrocardiographic parameters and ajmaline test in the diagnosis of Brugada syndrome caused by SCN5A mutations. 15520322

2004

dbSNP: rs199473282
rs199473282
0.740 GeneticVariation BEFREE Expression and intracellular localization of an SCN5A double mutant R1232W/T1620M implicated in Brugada syndrome. 11786529

2002

dbSNP: rs199473282
rs199473282
A 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

dbSNP: rs199473282
rs199473282
A 0.740 GeneticVariation CLINVAR Accelerated inactivation in a mutant Na(+) channel associated with idiopathic ventricular fibrillation. 11123251

2001

dbSNP: rs199473282
rs199473282
A 0.740 GeneticVariation CLINVAR Cardiac Na(+) channel dysfunction in Brugada syndrome is aggravated by beta(1)-subunit. 10618304

2000

dbSNP: rs199473282
rs199473282
0.740 GeneticVariation BEFREE SCN5A mutation (T1620M) causing Brugada syndrome exhibits different phenotypes when expressed in Xenopus oocytes and mammalian cells. 10664447

2000

dbSNP: rs199473282
rs199473282
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

dbSNP: rs199473282
rs199473282
A 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

dbSNP: rs199473282
rs199473282
A 0.740 GeneticVariation CLINVAR Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent. 10532948

1999

dbSNP: rs199473282
rs199473282
A 0.740 GeneticVariation CLINVAR Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. 9521325

1998

dbSNP: rs137854601
rs137854601
0.720 GeneticVariation BEFREE E1784K is the most common mixed syndrome SCN5a mutation underpinning both Brugada syndrome type 1 (BrS1) and Long-QT syndrome type 3 (LQT3). 29483621

2018

dbSNP: rs28937318
rs28937318
0.720 GeneticVariation BEFREE Dermal fibroblasts from a Brugada syndrome patient with a mutation in SCN5A (c.1100G>A, leading to Na<sub>v</sub>1.5_p.R367H) were reprogrammed to iPS cells. 29024690

2018

dbSNP: rs137854601
rs137854601
0.720 GeneticVariation BEFREE We demonstrate a strong genotype-phenotype correlation with complete penetrance for BrS, LQTS, or CCD in the largest family harboring SCN5A-E1784K mutation described so far. 27381756

2016

dbSNP: rs137854601
rs137854601
T 0.720 CausalMutation CLINVAR UniProt: a hub for protein information. 25348405

2015

dbSNP: rs28937318
rs28937318
T 0.720 CausalMutation CLINVAR UniProt: a hub for protein information. 25348405

2015

dbSNP: rs28937318
rs28937318
T 0.720 CausalMutation CLINVAR Comprehensive Genetic Characterization of a Spanish Brugada Syndrome Cohort. 26173111

2015

dbSNP: rs137854601
rs137854601
T 0.720 CausalMutation CLINVAR Sodium channelopathy underlying familial sick sinus syndrome with early onset and predominantly male characteristics. 24762805

2014