rs6801957
This is a regulatory region variant variant in the SCN10A gene.
▶GWAS Catalog Trait Associations (13)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (13)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
Brugada syndrome
Ishikawa T et al. “Brugada syndrome in Japan and Europe: a genome-wide association study reveals shared genetic architecture and new risk loci.” European Heart Journal 45(26):2320-2332 (2024)
Allele C
OR 0.41
p 6.0e-217
N 15,395
Large GWAS
multi-ancestry
Barc J et al. “Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility.” Nature Genetics 54(3):232-239 (2022)
Allele C
OR 2.49
p 1.0e-180
N 12,821
Large GWAS
European
atrial fibrillation
Yuan S et al. “Cross-population GWAS and proteomics improve risk prediction and reveal mechanisms in atrial fibrillation.” Nature Communications 16(1):6426 (2025)
Allele T
OR 0.07
p 1.0e-96
N 2,584,013
Large GWAS
multi-ancestry
Miyazawa K et al. “Cross-ancestry genome-wide analysis of atrial fibrillation unveils disease biology and enables cardioembolic risk prediction.” Nature Genetics 55(2):187-197 (2023)
Allele T
OR 0.06
p 2.0e-24
N 2,339,188
Large GWAS
multi-ancestry
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.06
p 3.0e-11
N 589,441
Large GWAS
multi-ancestry
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.09
p 4.0e-53
N 437,772
Major Consortium StudyLarge GWAS
European
PR segment
Verweij N et al. “Genetic determinants of P wave duration and PR segment.” Circulation. Cardiovascular Genetics 7(4):475-81 (2014)
Allele T
OR 2.94
p 7.0e-41
N 16,468
Large GWAS
European
heart rate
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.03
p 7.0e-34
N 425,748
Major Consortium StudyLarge GWAS
European
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.02
p 8.0e-19
N 394,642
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 T
OR 0.77
p 1.0e-28
N 40,407
Large GWAS
European
P wave duration
Verweij N et al. “Genetic determinants of P wave duration and PR segment.” Circulation. Cardiovascular Genetics 7(4):475-81 (2014)
Allele T
OR 1.44
p 8.0e-27
N 16,468
Large GWAS
European
cardiac arrhythmia
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.04
p 7.0e-20
N 394,665
Major Consortium StudyLarge GWAS
European
pulse pressure measurement
Evangelou E et al. “Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.” Nature Genetics 50(10):1412-1425 (2018)
Allele T
OR 0.13
p 5.0e-14
N 757,601
Large GWAS
European
Keaton JM et al. “Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits.” Nature Genetics 56(5):778-791 (2024)
Allele T
OR 0.13
p 1.0e-13
N 1,028,980
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 T
OR 0.63
p 1.0e-10
N 71,061
Large GWAS
European
maximal oxygen uptake measurement
Hanscombe KB et al. “The genetic case for cardiorespiratory fitness as a clinical vital sign and the routine prescription of physical activity in healthcare.” Genome Medicine 13(1):180 (2021)
Allele T
OR 0.03
p 2.0e-10
N 70,783
Large GWAS
European
▶ClinVar annotation
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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