rs3807989

This is a regulatory region variant variant in the CAV1 gene.

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GWAS Catalog Trait Associations (11)

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

cardioembolic stroke

Cárcel-Márquez J et al. “A Polygenic Risk Score Based on a Cardioembolic Stroke Multitrait Analysis Improves a Clinical Prediction Model for This Stroke Subtype.” Frontiers in Cardiovascular Medicine 9:940696 (2022)
Allele A
OR 13.10
p 3.0e-39
N 362,661
Large GWAS
European

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 0.38
p 2.0e-31
N 85,593
Meta-analysisLarge GWAS
multi-ancestry

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 A
OR 0.05
p 3.0e-30
N 394,665
Major Consortium StudyLarge GWAS
European

encounter with health service

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 A
OR 0.07
p 2.0e-20
N 441,953
Major Consortium StudyLarge GWAS
European

atrial flutter

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 A
OR 0.08
p 6.0e-18
N 440,917
Major Consortium StudyLarge GWAS
European

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 A
OR 0.08
p 2.0e-13
N 615,812
Major Consortium StudyLarge GWAS
multi-ancestry

pulse pressure measurement

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele G
OR 0.01
p 4.0e-12
N 506,308
Large GWAS
multi-ancestry
Yang ML et al. “Sex-specific genetic architecture of blood pressure.” Nature Medicine 30(3):818-828 (2024)
Allele G
OR 0.01
p 1.0e-9
N 349,328
Large GWAS
multi-ancestry

QT interval

Bihlmeyer NA et al. “ExomeChip-Wide Analysis of 95 626 Individuals Identifies 10 Novel Loci Associated With QT and JT Intervals.” Circulation. Genomic and Precision Medicine 11(1):e001758 (2018)
Allele A
OR 0.54
p 4.0e-12
N 95,626
Large GWAS
multi-ancestry

PR segment

Verweij N et al. “Genetic determinants of P wave duration and PR segment.” Circulation. Cardiovascular Genetics 7(4):475-81 (2014)
Allele A
OR 1.40
p 5.0e-12
N 16,468
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 A
OR 0.10
p 2.0e-168
N 1,840,341
Large GWAS
European
Roselli C et al. “Meta-analysis of genome-wide associations and polygenic risk prediction for atrial fibrillation in more than 180,000 cases.” Nature Genetics 57(3):539-547 (2025)
Allele A
OR 1.11
p 3.0e-116
N 1,650,345
Meta-analysisLarge 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 A
OR 0.10
p 2.0e-75
N 437,772
Major Consortium StudyLarge GWAS
European
Ellinor PT et al. “Meta-analysis identifies six new susceptibility loci for atrial fibrillation.” Nature Genetics 44(6):670-675 (2012)
Allele A
OR 1.11
p 4.0e-12
N 59,133
Meta-analysisLarge GWAS
European
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Research that mentions this SNP (1)

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Genetic Investigation Into the Differential Risk of Atrial Fibrillation Among Black and White Individuals
AssociationN=17,325Jason D. Roberts et al.(2016)· JAMA Cardiology

This genome-wide admixture analysis of three population-based cohorts (CHS, ARIC, Health ABC; n=17,325) investigated whether 9 known atrial fibrillation (AF) SNPs explain the paradoxically higher AF risk in Whites compared to Blacks. Using Cox proportional hazards models, rs10824026 (in SYNPO2L/MYOZ1) significantly mediated 11.4% (95% CI 2.9-29.9%) and 31.7% (95% CI 16.0-53.0%) of the excess AF risk in Whites in CHS and ARIC respectively. Admixture mapping across 4,938 Black participants identified no loci reaching genome-wide significance (p<7×10⁻⁶), suggesting the racial differential in AF risk is driven by multiple genetic and/or environmental factors rather than single variants.

Traits studied:Atrial fibrillation
PubMedDOIMetascience Observatory

About CAV1

The scaffolding protein encoded by this gene is the main component of the caveolae plasma membranes found in most cell types. The protein links integrin subunits to the tyrosine kinase FYN, an initiating step in coupling integrins to the Ras-ERK pathway and promoting cell cycle progression. The gene is a tumor suppressor gene candidate and a negative regulator of the Ras-p42/44 mitogen-activated kinase cascade. Caveolin 1 and caveolin 2 are located next to each other on chromosome 7 and express colocalizing proteins that form a stable hetero-oligomeric complex. Mutations in this gene have been associated with Berardinelli-Seip congenital lipodystrophy. Alternatively spliced transcripts encode alpha and beta isoforms of caveolin 1.[provided by RefSeq, Mar 2010]

View all CAV1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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