rs11129795

This variant is located in the SCN5A gene.

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GWAS Catalog Trait Associations (2)

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

QT interval

Pfeufer A et al. “Common variants at ten loci modulate the QT interval duration in the QTSCD Study.” Nature Genetics 41(4):407-14 (2009)
Allele A
OR 1.27
p 5.0e-14
N 15,842
Large GWAS
European

QRS duration

Holm H et al. “Several common variants modulate heart rate, PR interval and QRS duration.” Nature Genetics 42(2):117-22 (2010)
Allele G
OR 8.24
p 5.0e-10
N 12,670
Large GWAS
European

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]

View all SCN5A variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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