rs11708996

This is a intron variant variant in the SCN5A gene.

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GWAS Catalog Trait Associations (4)

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

PR interval

van Setten J et al. “PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity.” Nature Communications 9(1):2904 (2018)
Allele C
OR 3.10
p 1.0e-68
N 92,340
Meta-analysisLarge GWAS
European
Pfeufer A et al. “Genome-wide association study of PR interval.” Nature Genetics 42(2):153-9 (2010)
Allele C
OR 3.04
p 6.0e-26
N 28,517
Large GWAS
European

heart function attribute

Sotoodehnia N et al. “Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction.” Nature Genetics 42(12):1068-76 (2010)
Allele C
OR 0.79
p 1.0e-16
N 40,407
Large GWAS
European

Brugada syndrome

Bezzina CR et al. “Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death.” Nature Genetics 45(9):1044-9 (2013)
Allele C
OR 1.73
p 1.0e-14
N 1,427
Large GWAS
multi-ancestry

QT interval

Arking DE et al. “Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.” Nature Genetics 46(8):826-36 (2014)
Allele C
OR 0.92
p 2.0e-11
N 71,061
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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