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 1
CUI: C4551804
Disease: Brugada Syndrome 1
0.800 CausalMutation CLINVAR
LONG QT SYNDROME 3
CUI: C1859062
Disease: LONG QT SYNDROME 3
0.700 GeneticVariation UNIPROT Molecular mechanism for an inherited cardiac arrhythmia. 7651517 1995
LONG QT SYNDROME 3
CUI: C1859062
Disease: LONG QT SYNDROME 3
0.700 GeneticVariation UNIPROT Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia. 8541846 1995
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 (disorder)
CUI: C1142166
Disease: Brugada Syndrome (disorder)
0.740 GeneticVariation CLINVAR Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. 9521325 1998
LONG QT SYNDROME 3
CUI: C1859062
Disease: LONG QT SYNDROME 3
0.700 GeneticVariation UNIPROT A de novo missense mutation of human cardiac Na+ channel exhibiting novel molecular mechanisms of long QT syndrome. 9506831 1998
LONG QT SYNDROME 3
CUI: C1859062
Disease: LONG QT SYNDROME 3
0.700 GeneticVariation UNIPROT Identification of a new SCN5A mutation, D1840G, associated with the long QT syndrome. Mutations in brief no. 153. Online. 10627139 1998
LONG QT SYNDROME 3
CUI: C1859062
Disease: LONG QT SYNDROME 3
0.700 GeneticVariation UNIPROT Novel LQT-3 mutation affects Na+ channel activity through interactions between alpha- and beta1-subunits. 9686753 1998
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
Brugada Syndrome 1
CUI: C4551804
Disease: Brugada Syndrome 1
0.800 GeneticVariation UNIPROT Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome. 10690282 1999
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
LONG QT SYNDROME 3
CUI: C1859062
Disease: LONG QT SYNDROME 3
0.700 GeneticVariation UNIPROT Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel. 10377081 1999
LONG QT SYNDROME 3
CUI: C1859062
Disease: LONG QT SYNDROME 3
0.700 GeneticVariation UNIPROT Sodium channel abnormalities are infrequent in patients with long QT syndrome: identification of two novel SCN5A mutations. 10508990 1999
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 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 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 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
LONG QT SYNDROME 3
CUI: C1859062
Disease: LONG QT SYNDROME 3
0.700 GeneticVariation UNIPROT A molecular link between the sudden infant death syndrome and the long-QT syndrome. 10911008 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
Hereditary bundle branch system defect
CUI: C1879286
Disease: Hereditary bundle branch system defect
0.700 GeneticVariation UNIPROT A sodium-channel mutation causes isolated cardiac conduction disease. 11234013 2001
LONG QT SYNDROME 3
CUI: C1859062
Disease: LONG QT SYNDROME 3
0.700 GeneticVariation UNIPROT Novel arrhythmogenic mechanism revealed by a long-QT syndrome mutation in the cardiac Na(+) channel. 11304498 2001
LONG QT SYNDROME 3
CUI: C1859062
Disease: LONG QT SYNDROME 3
0.700 GeneticVariation UNIPROT Inherited Brugada and long QT-3 syndrome mutations of a single residue of the cardiac sodium channel confer distinct channel and clinical phenotypes. 11410597 2001
Brugada Syndrome 1
CUI: C4551804
Disease: Brugada Syndrome 1
0.800 GeneticVariation UNIPROT Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome. 11823453 2002
Brugada Syndrome 1
CUI: C4551804
Disease: Brugada Syndrome 1
0.800 GeneticVariation UNIPROT Genotype-phenotype relationship in Brugada syndrome: electrocardiographic features differentiate SCN5A-related patients from non-SCN5A-related patients. 12106943 2002
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