Gene: SCN5A ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28937318
rs28937318
SCN5A
T 0.720 CausalMutation CLINVAR Electrocardiographic characteristics and SCN5A mutations in idiopathic ventricular fibrillation associated with early repolarization. 22028457

2011
dbSNP: rs28937318
rs28937318
SCN5A
T 0.720 CausalMutation CLINVAR Comprehensive Genetic Characterization of a Spanish Brugada Syndrome Cohort. 26173111

2015
dbSNP: rs28937318
rs28937318
SCN5A
T 0.720 CausalMutation CLINVAR Parental electrocardiographic screening identifies a high degree of inheritance for congenital and childhood nonimmune isolated atrioventricular block. 22899775

2012
dbSNP: rs28937318
rs28937318
SCN5A
T 0.720 CausalMutation CLINVAR An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. 20129283

2010
dbSNP: rs28937318
rs28937318
SCN5A
T 0.720 CausalMutation CLINVAR Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome. 11823453

2002
dbSNP: rs137854611
rs137854611
SCN5A
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
dbSNP: rs137854611
rs137854611
SCN5A
T 0.710 GeneticVariation CLINVAR Identification of six novel SCN5A mutations in Japanese patients with Brugada syndrome. 21321465

2011
dbSNP: rs137854611
rs137854611
SCN5A
T 0.710 GeneticVariation CLINVAR Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome. 11823453

2002
dbSNP: rs137854611
rs137854611
SCN5A
T 0.710 GeneticVariation CLINVAR Natural history of Brugada syndrome: insights for risk stratification and management. 11901046

2002
dbSNP: rs137854611
rs137854611
SCN5A
T 0.710 GeneticVariation CLINVAR Direct Measurement of Cardiac Na+ Channel Conformations Reveals Molecular Pathologies of Inherited Mutations. 26283144

2015
dbSNP: rs137854611
rs137854611
SCN5A
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
dbSNP: rs199473058
rs199473058
SCN5A
T 0.710 CausalMutation CLINVAR An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. 20129283

2010
dbSNP: rs199473058
rs199473058
SCN5A
T 0.710 CausalMutation CLINVAR Dominant-negative effect of SCN5A N-terminal mutations through the interaction of Na(v)1.5 α-subunits. 22739120

2012
dbSNP: rs199473058
rs199473058
SCN5A
T 0.710 CausalMutation CLINVAR Three SCN5A mutations (V95I, R121Q, and R367H) have been previously implicated in BrS. 24529773

2014
dbSNP: rs199473062
rs199473062
SCN5A
T 0.710 CausalMutation CLINVAR

dbSNP: rs199473101
rs199473101
SCN5A
T 0.710 CausalMutation CLINVAR Cardiac evaluation of pediatric relatives in sudden arrhythmic death syndrome: a 2-center experience. 25194972

2014
dbSNP: rs199473101
rs199473101
SCN5A
T 0.710 CausalMutation CLINVAR Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation. 27930701

2016
dbSNP: rs199473101
rs199473101
SCN5A
T 0.710 CausalMutation CLINVAR Sudden cardiac death with autopsy findings of uncertain significance: potential for erroneous interpretation. 23671135

2013
dbSNP: rs199473101
rs199473101
SCN5A
T 0.710 CausalMutation CLINVAR A novel strategy using cardiac sodium channel polymorphic fragments to rescue trafficking-deficient SCN5A mutations. 21840964

2011
dbSNP: rs199473101
rs199473101
SCN5A
T 0.710 CausalMutation CLINVAR Genetic analysis in a family affected by sick sinus syndrome may reduce the sudden death risk in a young aspiring competitive athlete. 24295898

2014
dbSNP: rs199473101
rs199473101
SCN5A
T 0.710 CausalMutation CLINVAR An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. 20129283

2010
dbSNP: rs199473101
rs199473101
SCN5A
T 0.710 CausalMutation CLINVAR Genotype-Phenotype Correlation of SCN5A Mutation for the Clinical and Electrocardiographic Characteristics of Probands With Brugada Syndrome: A Japanese Multicenter Registry. 28341781

2017
dbSNP: rs199473101
rs199473101
SCN5A
T 0.710 CausalMutation CLINVAR A novel mutation, R376H, in the first pore segment of SCN5A variably causes Brugada syndrome and/or conduction disease in a single family. 15851228

2004
dbSNP: rs199473101
rs199473101
SCN5A
T 0.710 CausalMutation CLINVAR Cardiac histological substrate in patients with clinical phenotype of Brugada syndrome. 16344400

2005
dbSNP: rs199473101
rs199473101
SCN5A
T 0.710 CausalMutation CLINVAR Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation. 18378609

2008