rs1974763

This variant is located in the CAV3 gene.

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GWAS Catalog Trait Associations (1)

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

gut microbiome measurement, breastfeeding duration

Stickley SA et al. “Gene-by-environment interactions modulate the infant gut microbiota in asthma and atopy.” The Journal of Allergy and Clinical Immunology 156(2):433-448 (2025)
Allele T
OR —
β 1.540
p 2.0e-8
N 693
Small GWAS
multi-ancestry
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ClinVar annotation

Likely Benign★★★☆
14 submitters4 publications

not provided; not specified; Cardiovascular phenotype; Long QT syndrome; Caveolinopathy; Congenital long QT syndrome; Limb-Girdle Muscular Dystrophy, Dominant

View on ClinVar →

About CAV3

This gene encodes a caveolin family member, which functions as a component of the caveolae plasma membranes found in most cell types. Caveolin proteins are proposed to be scaffolding proteins for organizing and concentrating certain caveolin-interacting molecules. Mutations identified in this gene lead to interference with protein oligomerization or intra-cellular routing, disrupting caveolae formation and resulting in Limb-Girdle muscular dystrophy type-1C (LGMD-1C), hyperCKemia or rippling muscle disease (RMD). Alternative splicing has been identified for this locus, with inclusion or exclusion of a differentially spliced intron. In addition, transcripts utilize multiple polyA sites and contain two potential translation initiation sites. [provided by RefSeq, Jul 2008]

View all CAV3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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