rs6795970

This is a variant in the SCN10A gene that changes a valine to an alanine.

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GWAS Catalog Trait Associations (9)

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

QRS duration

Prins BP et al. “Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6.” Genome Biology 19(1):87 (2018)
Allele A
OR 0.75
p 1.0e-110
N 85,593
Meta-analysisLarge GWAS
multi-ancestry
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 0.75
p 5.0e-27
N 5,272
Large GWAS
European

PR interval

Holm H et al. “Several common variants modulate heart rate, PR interval and QRS duration.” Nature Genetics 42(2):117-22 (2010)
Allele A
OR 14.81
p 1.0e-58
N 12,670
Large GWAS
European

electrocardiography, PR interval

Chambers JC et al. “Genetic variation in SCN10A influences cardiac conduction.” Nature Genetics 42(2):149-52 (2010)
Allele A
OR 3.33
p 3.0e-15
N 6,543
Large GWAS
multi-ancestry

pulse pressure measurement

Surendran P et al. “Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals.” Nature Genetics 52(12):1314-1332 (2020)
Allele A
OR 0.12
p 1.0e-13
N 1,164,961
Meta-analysisLarge GWAS
European

QRS complex

Holm H et al. “Several common variants modulate heart rate, PR interval and QRS duration.” Nature Genetics 42(2):117-22 (2010)
Allele A
OR 5.17
p 4.0e-9
N 12,670
Large GWAS
European

familial sick sinus syndrome

Thorolfsdottir RB et al. “Genetic insight into sick sinus syndrome.” European Heart Journal 42(20):1959-1971 (2021)
Allele A
OR 1.12
p 3.0e-8
N 937,235
Large GWAS
European

heart rate response to recovery post exercise

Ramírez J et al. “Thirty loci identified for heart rate response to exercise and recovery implicate autonomic nervous system.” Nature Communications 9(1):1947 (2018)
Allele A
OR 0.31
p 3.0e-8
N 67,257
Large GWAS
European

sick sinus syndrome

Thorolfsdottir RB et al. “Genetic insight into sick sinus syndrome.” European Heart Journal 42(20):1959-1971 (2021)
Allele A
OR 1.12
p 3.0e-8
N 937,235
Large GWAS
European
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ClinVar annotation

Benign★★★☆
11 submitters2 publications

Brugada syndrome; Cardiovascular phenotype; Episodic pain syndrome, familial, 2 (FEPS2); not specified

View on ClinVar →
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Research that mentions this SNP (1)

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The research of ion channel‐related gene polymorphisms with atrial fibrillation in the Chinese Han population
AssociationN=381Xiumin Liu et al.(2019)· Molecular Genetics &amp; Genomic Medicine

This case-control study of 381 Chinese Han patients (185 with atrial fibrillation, 196 controls) investigated associations between ion channel-related gene polymorphisms and AF risk. Three SNPs were significantly associated with AF: rs8134775 near KCNE2 conferred decreased AF risk (OR = 0.70; p = 0.034), rs35594137 in GJA5 conferred decreased AF risk in the recessive model (OR = 0.40; p = 0.018), and rs8079702 near KCNJ2 conferred increased AF risk in the recessive model (OR = 2.31; p = 0.012).

Traits studied:Atrial fibrillation
PubMedDOIMetascience Observatory

About SCN10A

The protein encoded by this gene is a tetrodotoxin-resistant voltage-gated sodium channel alpha subunit. The properties of the channel formed by the encoded transmembrane protein can be altered by interaction with different beta subunits. This protein may be involved in the onset of pain associated with peripheral neuropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

View all SCN10A variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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