rs1805126

This is a synonymous variant in the SCN5A gene — it does not change the protein's amino acid sequence.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

QRS duration

Ritchie MD et al. “Genome- and phenome-wide analyses of cardiac conduction identifies markers of arrhythmia risk.” Circulation 127(13):1377-85 (2013)
Allele A
OR 0.66
p 3.0e-20
N 5,272
Large GWAS
European
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ClinVar annotation

Likely Benign★★★☆
17 submitters4 publications

Brugada syndrome 1 (BRGDA1); Cardiac arrhythmia; Cardiovascular phenotype; Congenital long QT syndrome (RWS); Dilated cardiomyopathy 1E (CMD1E); Long QT syndrome 3 (LQT3); Primary dilated cardiomyopathy (DCM); Progressive familial heart block, type 1A (PFHB1A); Sick sinus syndrome 1; Ventricular fibrillation, paroxysmal familial, type 1; not specified

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About SCN5A

The protein encoded by this gene is an integral membrane protein and tetrodotoxin-resistant voltage-gated sodium channel subunit. This protein is found primarily in cardiac muscle and is responsible for the initial upstroke of the action potential in an electrocardiogram. Defects in this gene have been associated with long QT syndrome type 3 (LQT3), atrial fibrillation, cardiomyopathy, and Brugada syndrome 1, all autosomal dominant cardiac diseases. Alternative splicing results in several transcript variants encoding different isoforms. [provided by RefSeq, May 2022]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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