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 |
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 |
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 |
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 |
rs199473282
|
|
A |
0.740 |
GeneticVariation |
CLINVAR |
UniProt: a hub for protein information.
|
25348405 |
2015 |
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 |
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 |
rs199473282
|
|
|
0.740 |
GeneticVariation |
BEFREE |
Absence of a trafficking defect in R1232W/T1620M, a double SCN5A mutant responsible for Brugada syndrome.
|
18503232 |
2008 |
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 |
rs199473282
|
|
|
0.740 |
GeneticVariation |
BEFREE |
Expression and intracellular localization of an SCN5A double mutant R1232W/T1620M implicated in Brugada syndrome.
|
11786529 |
2002 |
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 |
rs199473282
|
|
A |
0.740 |
GeneticVariation |
CLINVAR |
Accelerated inactivation in a mutant Na(+) channel associated with idiopathic ventricular fibrillation.
|
11123251 |
2001 |
rs199473282
|
|
A |
0.740 |
GeneticVariation |
CLINVAR |
Cardiac Na(+) channel dysfunction in Brugada syndrome is aggravated by beta(1)-subunit.
|
10618304 |
2000 |
rs199473282
|
|
|
0.740 |
GeneticVariation |
BEFREE |
SCN5A mutation (T1620M) causing Brugada syndrome exhibits different phenotypes when expressed in Xenopus oocytes and mammalian cells.
|
10664447 |
2000 |
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 |
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 |
rs199473282
|
|
A |
0.740 |
GeneticVariation |
CLINVAR |
Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent.
|
10532948 |
1999 |
rs199473282
|
|
A |
0.740 |
GeneticVariation |
CLINVAR |
Genetic basis and molecular mechanism for idiopathic ventricular fibrillation.
|
9521325 |
1998 |
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 |
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 |
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 |
rs137854601
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
UniProt: a hub for protein information.
|
25348405 |
2015 |
rs28937318
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
UniProt: a hub for protein information.
|
25348405 |
2015 |
rs28937318
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
Comprehensive Genetic Characterization of a Spanish Brugada Syndrome Cohort.
|
26173111 |
2015 |
rs137854601
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
Sodium channelopathy underlying familial sick sinus syndrome with early onset and predominantly male characteristics.
|
24762805 |
2014 |