Gene: SCN5A ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1366120635
rs1366120635
SCN5A
T 0.700 CausalMutation CLINVAR H558R, a common SCN5A polymorphism, modifies the clinical phenotype of Brugada syndrome by modulating DNA methylation of SCN5A promoters. 29202755

2017
dbSNP: rs1553692660
rs1553692660
SCN5A
C 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs199473097
rs199473097
SCN5A
A 0.700 GeneticVariation CLINVAR Genetic Testing in the Evaluation of Unexplained Cardiac Arrest: From the CASPER (Cardiac Arrest Survivors With Preserved Ejection Fraction Registry). 28600387

2017
dbSNP: rs199473097
rs199473097
SCN5A
A 0.700 GeneticVariation CLINVAR Targeted Next-Generation Sequencing of 51 Genes Involved in Primary Electrical Disease. 28341588

2017
dbSNP: rs199473172
rs199473172
SCN5A
T 0.700 GeneticVariation 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: rs397514450
rs397514450
SCN5A
AAC 0.700 CausalMutation CLINVAR Genetic Testing in the Evaluation of Unexplained Cardiac Arrest: From the CASPER (Cardiac Arrest Survivors With Preserved Ejection Fraction Registry). 28600387

2017
dbSNP: rs749697698
rs749697698
SCN5A
G 0.700 GeneticVariation CLINVAR Heritability in a SCN5A-mutation founder population with increased female susceptibility to non-nocturnal ventricular tachyarrhythmia and sudden cardiac death. 28782696

2017
dbSNP: rs757532106
rs757532106
SCN5A
A 0.700 CausalMutation CLINVAR Genetic Testing in the Evaluation of Unexplained Cardiac Arrest: From the CASPER (Cardiac Arrest Survivors With Preserved Ejection Fraction Registry). 28600387

2017
dbSNP: rs757532106
rs757532106
SCN5A
A 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs794728940
rs794728940
SCN5A
A 0.700 CausalMutation CLINVAR Applying High-Resolution Variant Classification to Cardiac Arrhythmogenic Gene Testing in a Demographically Diverse Cohort of Sudden Unexplained Deaths. 29247119

2017
dbSNP: rs137854604
rs137854604
SCN5A
A 0.700 GeneticVariation CLINVAR Genetic Variation of SCN5A in Korean Patients with Sick Sinus Syndrome. 26798387

2016
dbSNP: rs199473284
rs199473284
SCN5A
A 0.700 CausalMutation CLINVAR The proband had a baseline electrocardiogram that showed Type 2 BrS changes, which escalated to a characteristic Type I BrS pattern during a treadmill test before polymorphic ventricular tachycardia onset at a cycle length of 250 ms. Mutational analysis across all 29 exons in SCN5A of the proband and first-degree relatives of the family revealed that the proband inherited a compound heterozygote mutation in SCN5A, specifically p.A226V and p.R1629X from each parent. 25829473

2016
dbSNP: rs1366120635
rs1366120635
SCN5A
T 0.700 CausalMutation CLINVAR Comprehensive Genetic Characterization of a Spanish Brugada Syndrome Cohort. 26173111

2015
dbSNP: rs137854604
rs137854604
SCN5A
A 0.700 GeneticVariation CLINVAR UniProt: a hub for protein information. 25348405

2015
dbSNP: rs137854618
rs137854618
SCN5A
T 0.700 CausalMutation CLINVAR Loss-of-Function SCN5A Mutations Associated With Sinus Node Dysfunction, Atrial Arrhythmias, and Poor Pacemaker Capture. 26111534

2015
dbSNP: rs199473153
rs199473153
SCN5A
T 0.700 GeneticVariation CLINVAR Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome. 25650408

2015
dbSNP: rs199473161
rs199473161
SCN5A
A 0.700 CausalMutation CLINVAR Mutations in the Voltage Sensors of Domains I and II of Nav1.5 that are Associated with Arrhythmias and Dilated Cardiomyopathy Generate Gating Pore Currents. 26733869

2015
dbSNP: rs199473172
rs199473172
SCN5A
T 0.700 GeneticVariation CLINVAR Enhanced Classification of Brugada Syndrome-Associated and Long-QT Syndrome-Associated Genetic Variants in the SCN5A-Encoded Na(v)1.5 Cardiac Sodium Channel. 25904541

2015
dbSNP: rs199473305
rs199473305
SCN5A
T 0.700 CausalMutation CLINVAR Enhanced Classification of Brugada Syndrome-Associated and Long-QT Syndrome-Associated Genetic Variants in the SCN5A-Encoded Na(v)1.5 Cardiac Sodium Channel. 25904541

2015
dbSNP: rs199473311
rs199473311
SCN5A
C 0.700 CausalMutation CLINVAR UniProt: a hub for protein information. 25348405

2015
dbSNP: rs199473556
rs199473556
SCN5A
A 0.700 CausalMutation CLINVAR Comprehensive Genetic Characterization of a Spanish Brugada Syndrome Cohort. 26173111

2015
dbSNP: rs199473565
rs199473565
SCN5A
T 0.700 GeneticVariation CLINVAR Comprehensive Genetic Characterization of a Spanish Brugada Syndrome Cohort. 26173111

2015
dbSNP: rs45546039
rs45546039
SCN5A
T 0.700 CausalMutation CLINVAR Gating pore currents are defects in common with two Nav1.5 mutations in patients with mixed arrhythmias and dilated cardiomyopathy. 25624448

2015
dbSNP: rs45546039
rs45546039
SCN5A
T 0.700 CausalMutation CLINVAR Cellular hyper-excitability caused by mutations that alter the activation process of voltage-gated sodium channels. 25741286

2015
dbSNP: rs72549410
rs72549410
SCN5A
T 0.700 CausalMutation CLINVAR UniProt: a hub for protein information. 25348405

2015