rs11773845

This is a intron variant variant in the CAV1 gene.

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GWAS Catalog Trait Associations (5)

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

atrial fibrillation

Roselli C et al. “Multi-ethnic genome-wide association study for atrial fibrillation.” Nature Genetics 50(9):1225-1233 (2018)
Allele A
OR 1.12
p 5.0e-58
N 588,190
Large GWAS
multi-ancestry
Koskeridis F et al. “Multi-trait association analysis reveals shared genetic loci between Alzheimer's disease and cardiovascular traits.” Nature Communications 15(1):9827 (2024)
Allele A
OR 0.02
p 2.0e-53
N 1,486,094
Large GWAS
European
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 0.02
p 1.0e-54
N 1,030,836
Large GWAS
European
Nielsen JB et al. “Biobank-driven genomic discovery yields new insight into atrial fibrillation biology.” Nature Genetics 50(9):1234-1239 (2018)
Allele A
OR 1.11
p 2.0e-55
N 1,030,836
Large GWAS
European
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-54
N 622,233
Major Consortium StudyLarge 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 A
OR 0.11
p 8.0e-31
N 589,441
Large GWAS
multi-ancestry
Christophersen IE et al. “Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation.” Nature Genetics 49(6):946-952 (2017)
Allele A
OR 1.10
p 3.0e-13
N 118,755
Large GWAS
European

QRS duration

Young WJ et al. “Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways.” Nature Communications 13(1):5144 (2022)
Allele A
OR 0.04
p 7.0e-45
N 60,343
Large GWAS
European, African unspecified, Hispanic or Latin American, South East Asian, South Asian

PR interval

van Setten J et al. “Genome-wide association meta-analysis of 30,000 samples identifies seven novel loci for quantitative ECG traits.” European Journal of Human Genetics : Ejhg 27(6):952-962 (2019)
Allele A
OR 2.01
p 9.0e-28
N 31,695
Meta-analysisLarge GWAS
multi-ancestry
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 A
OR 2.29
p 4.0e-12
N 13,415
Large GWAS
African American or Afro-Caribbean
Hong KW et al. “Identification of three novel genetic variations associated with electrocardiographic traits (QRS duration and PR interval) in East Asians.” Human Molecular Genetics 23(24):6659-67 (2014)
Allele A
OR 3.21
p 3.0e-14
N 6,085
Large GWAS
East Asian

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 C
OR 0.02
p 2.0e-17
N 425,748
Major Consortium StudyLarge GWAS
European

heart failure

Jordà P et al. “Genetic analyses across cardiovascular traits: leveraging genetic correlations to empower locus discovery and prediction in common cardiovascular diseases.” Npj Genomic Medicine 10(1):65 (2025)
Allele A
OR 8.00
p 1.0e-15
N 358,418
Large GWAS
European
Lee DSM et al. “Common-variant and rare-variant genetic architecture of heart failure across the allele-frequency spectrum.” Nature Genetics 57(4):829-838 (2025)
Allele A
OR 0.03
p 5.0e-13
N 2,358,556
Large GWAS
multi-ancestry
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Research that mentions this SNP (1)

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Association of Caveolin-1 Gene Polymorphism With Kidney Transplant Fibrosis and Allograft Failure
AssociationN=1,482Moore J. et al.(2010)· JAMA

This candidate gene association study identified CAV1 rs4730751 as significantly associated with kidney transplant allograft failure in two independent cohorts. The donor AA genotype was associated with increased risk of death-censored graft failure in Birmingham (HR 1.97, 95% CI 1.29-3.16, p=0.002) and validated in Belfast (HR 1.56, 95% CI 1.07-2.27, p=0.02), with histological evidence suggesting the association operates through increased interstitial fibrosis.

Traits studied:Death-censored graft failureInterstitial fibrosisKidney transplant allograft failureRenal allograft fibrosis
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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