rs3922844

This variant is located in the SCN5A gene.

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GWAS Catalog Trait Associations (8)

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

PR interval

Butler AM et al. “Novel loci associated with PR interval in a genome-wide association study of 10 African American cohorts.” Circulation. Cardiovascular Genetics 5(6):639-46 (2012)
Allele T
OR 4.54
p 5.0e-43
N 13,415
Large GWAS
African American or Afro-Caribbean
Ntalla I et al. “Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction.” Nature Communications 11(1):2542 (2020)
Allele T
OR 5.22
p 1.0e-34
N 292,566
Large GWAS
multi-ancestry
Seyerle AA et al. “Genome-wide association study of PR interval in Hispanics/Latinos identifies novel locus at ID2.” Heart (british Cardiac Society) 104(11):904-911 (2018)
Allele T
OR 3.39
p 4.0e-41
N 14,756
Large GWAS
multi-ancestry
Smith JG et al. “Genome-wide association studies of the PR interval in African Americans.” Plos Genetics 7(2):e1001304 (2011)
Allele T
OR 5.11
p 3.0e-23
N 6,247
Large GWAS
African American or Afro-Caribbean

QRS duration

Swenson BR et al. “GWAS of QRS duration identifies new loci specific to Hispanic/Latino populations.” Plos One 14(6):e0217796 (2019)
Allele C
OR 1.03
p 1.0e-24
N 15,124
Large GWAS
Hispanic or Latin American
Evans DS et al. “Fine-mapping, novel loci identification, and SNP association transferability in a genome-wide association study of QRS duration in African Americans.” Human Molecular Genetics 25(19):4350-4368 (2016)
Allele C
OR 0.56
p 2.0e-13
N 53,438
Large GWAS
multi-ancestry

QT interval

Méndez-Giráldez R et al. “GWAS of the electrocardiographic QT interval in Hispanics/Latinos generalizes previously identified loci and identifies population-specific signals.” Scientific Reports 7(1):17075 (2017)
Allele T
OR 1.77
p 1.0e-15
N 15,997
Large GWAS
Hispanic or Latin American

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 3.0e-15
N 557,567
Major Consortium StudyLarge GWAS
multi-ancestry

P wave duration

Christophersen IE et al. “Fifteen Genetic Loci Associated With the Electrocardiographic P Wave.” Circulation. Cardiovascular Genetics 10(4) (2017)
Allele T
OR 1.66
p 3.0e-14
N 44,456
Large GWAS
multi-ancestry

paroxysmal tachycardia

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 0.07
p 1.0e-11
N 615,812
Major Consortium StudyLarge GWAS
multi-ancestry

atrial fibrillation

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 0.11
p 3.0e-11
N 118,682
Major Consortium StudyLarge GWAS
African American or Afro-Caribbean

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 0.04
p 2.0e-23
N 119,336
Major Consortium StudyLarge GWAS
African American or Afro-Caribbean
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Research that mentions this SNP (1)

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A genetic variant nearGATA3implicated in inherited susceptibility and etiology of benign prostatic hyperplasia (BPH) and lower urinary tract symptoms (LUTS)
AssociationN=4,800Rong Na et al.(2017)· The Prostate

This first genome-wide association study (GWAS) of benign prostatic hyperplasia (BPH) and lower urinary tract symptoms (LUTS) in nearly 5,000 men identified rs17144046 near GATA3 as significantly associated with BPH/LUTS across three independent populations (meta-analysis P=8.89×10⁻⁷, OR=1.41), with the risk allele G associated with increased GATA3 expression. Although this SNP did not reach stringent GWAS significance, expression analysis and functional evidence support GATA3's involvement in BPH pathogenesis.

Traits studied:Benign prostatic hyperplasia (BPH)Lower urinary tract symptoms (LUTS)
PubMedDOIMetascience Observatory

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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