rs71396949

This is a intron variant variant in the CHMP1A gene.

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GWAS Catalog Trait Associations (1)

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

basal cell carcinoma

Choquet H et al. “Multi-ancestry genome-wide meta-analysis identifies novel basal cell carcinoma loci and shared genetic effects with squamous cell carcinoma.” Communications Biology 7(1):33 (2024)

Allele A

OR 0.09

p 8.0e-11

N 802,297

Meta-analysisLarge GWAS

European

About CHMP1A

This gene encodes a member of the CHMP/Chmp family of proteins which are involved in multivesicular body sorting of proteins to the interiors of lysosomes. The initial prediction of the protein sequence encoded by this gene suggested that the encoded protein was a metallopeptidase. The nomenclature has been updated recently to reflect the correct biological function of this encoded protein. Several transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]

View all CHMP1A variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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