|
rs11708996
|
|
Brugada Syndrome (disorder)
|
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 |
|
rs11708996
|
|
Brugada Syndrome (disorder)
|
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 |
|
rs199473282
|
|
Brugada Syndrome (disorder)
|
A |
0.740 |
GeneticVariation
|
CLINVAR |
UniProt: a hub for protein information.
|
25348405 |
2015 |
|
rs199473282
|
|
Brugada Syndrome (disorder)
|
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
|
|
Brugada Syndrome (disorder)
|
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
|
|
Brugada Syndrome (disorder)
|
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
|
|
Brugada Syndrome (disorder)
|
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
|
|
Brugada Syndrome (disorder)
|
A |
0.740 |
GeneticVariation
|
CLINVAR |
Accelerated inactivation in a mutant Na(+) channel associated with idiopathic ventricular fibrillation.
|
11123251 |
2001 |
|
rs199473282
|
|
Brugada Syndrome (disorder)
|
A |
0.740 |
GeneticVariation
|
CLINVAR |
Cardiac Na(+) channel dysfunction in Brugada syndrome is aggravated by beta(1)-subunit.
|
10618304 |
2000 |
|
rs199473282
|
|
Brugada Syndrome (disorder)
|
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
|
|
Brugada Syndrome (disorder)
|
A |
0.740 |
GeneticVariation
|
CLINVAR |
Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent.
|
10532948 |
1999 |
|
rs199473282
|
|
Brugada Syndrome (disorder)
|
A |
0.740 |
GeneticVariation
|
CLINVAR |
Genetic basis and molecular mechanism for idiopathic ventricular fibrillation.
|
9521325 |
1998 |
|
rs137854601
|
|
Brugada Syndrome (disorder)
|
T |
0.720 |
CausalMutation
|
CLINVAR |
UniProt: a hub for protein information.
|
25348405 |
2015 |
|
rs137854601
|
|
Brugada Syndrome (disorder)
|
T |
0.720 |
CausalMutation
|
CLINVAR |
High prevalence of the SCN5A E1784K mutation in school children with long QT syndrome living on the Okinawa islands.
|
24871449 |
2014 |
|
rs137854601
|
|
Brugada Syndrome (disorder)
|
T |
0.720 |
CausalMutation
|
CLINVAR |
Sodium channelopathy underlying familial sick sinus syndrome with early onset and predominantly male characteristics.
|
24762805 |
2014 |
|
rs137854601
|
|
Brugada Syndrome (disorder)
|
T |
0.720 |
CausalMutation
|
CLINVAR |
Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory.
|
23631430 |
2013 |
|
rs137854601
|
|
Brugada Syndrome (disorder)
|
T |
0.720 |
CausalMutation
|
CLINVAR |
Identification of six novel SCN5A mutations in Japanese patients with Brugada syndrome.
|
21321465 |
2011 |
|
rs137854601
|
|
Brugada Syndrome (disorder)
|
T |
0.720 |
CausalMutation
|
CLINVAR |
Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.
|
19841300 |
2009 |
|
rs137854601
|
|
Brugada Syndrome (disorder)
|
T |
0.720 |
CausalMutation
|
CLINVAR |
Prevalence of early-onset atrial fibrillation in congenital long QT syndrome.
|
18452873 |
2008 |
|
rs137854601
|
|
Brugada Syndrome (disorder)
|
T |
0.720 |
CausalMutation
|
CLINVAR |
Of 41 E1784K carriers, 93% had LQT3, 22% had BrS, and 39% had sinus node dysfunction.
|
18451998 |
2008 |
|
rs137854601
|
|
Brugada Syndrome (disorder)
|
T |
0.720 |
CausalMutation
|
CLINVAR |
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
|
15840476 |
2005 |
|
rs137854601
|
|
Brugada Syndrome (disorder)
|
T |
0.720 |
CausalMutation
|
CLINVAR |
Gene sequencing in neonates and infants with the long QT syndrome.
|
16379539 |
2005 |
|
rs137854601
|
|
Brugada Syndrome (disorder)
|
T |
0.720 |
CausalMutation
|
CLINVAR |
Catecholamine-provoked microvoltage T wave alternans in genotyped long QT syndrome.
|
12877697 |
2003 |
|
rs137854601
|
|
Brugada Syndrome (disorder)
|
T |
0.720 |
CausalMutation
|
CLINVAR |
Natural history of Brugada syndrome: insights for risk stratification and management.
|
11901046 |
2002 |
|
rs137854601
|
|
Brugada Syndrome (disorder)
|
T |
0.720 |
CausalMutation
|
CLINVAR |
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
|
10973849 |
2000 |