rs1997572

This variant is located in the CAV1 gene.

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GWAS Catalog Trait Associations (2)

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

atrial fibrillation

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 G

OR 1.10

p 7.0e-15

N 133,073

Large GWAS

multi-ancestry

hemoglobin 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 5.0e-8

N 502,921

Large GWAS

multi-ancestry

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ClinVar annotation

Benign★☆☆☆

1 submitter

View on ClinVar →

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]