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 |
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
|
|
A |
0.740 |
GeneticVariation |
CLINVAR |
Genetic basis and molecular mechanism for idiopathic ventricular fibrillation.
|
9521325 |
1998 |
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 |
An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.
|
20129283 |
2010 |
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 |
Value of electrocardiographic parameters and ajmaline test in the diagnosis of Brugada syndrome caused by SCN5A mutations.
|
15520322 |
2004 |
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 |
Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent.
|
10532948 |
1999 |
rs137854611
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.
|
20129283 |
2010 |
rs137854611
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
Direct Measurement of Cardiac Na+ Channel Conformations Reveals Molecular Pathologies of Inherited Mutations.
|
26283144 |
2015 |
rs137854611
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
|
|
|
rs137854611
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome.
|
11823453 |
2002 |
rs137854611
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
Natural history of Brugada syndrome: insights for risk stratification and management.
|
11901046 |
2002 |
rs137854611
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
Comparison of long-term follow-up of electrocardiographic features in Brugada syndrome between the SCN5A-positive probands and the SCN5A-negative probands.
|
17697823 |
2007 |
rs137854611
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
Identification of six novel SCN5A mutations in Japanese patients with Brugada syndrome.
|
21321465 |
2011 |
rs199473220
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
The Brugada ECG and schizophrenia.
|
24951569 |
2014 |
rs199473220
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
High prevalence of genetic variants previously associated with Brugada syndrome in new exome data.
|
23414114 |
2013 |
rs199473220
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies.
|
19251209 |
2009 |
rs199473220
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Targeted analysis of whole genome sequence data to diagnose genetic cardiomyopathy.
|
25179549 |
2014 |
rs199473220
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Genotype-phenotype relationship in Brugada syndrome: electrocardiographic features differentiate SCN5A-related patients from non-SCN5A-related patients.
|
12106943 |
2002 |
rs199473220
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Here, we report the functional consequences of a novel missense SCN5A mutation, G1319V, identified in a BrS patient.
|
17854786 |
2007 |