rs200837270

This is a variant in the CD207 gene that changes a tryptophan to an arginine.

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GWAS Catalog Trait Associations (1)

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

C-type lectin domain family 4 member K amount

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.43
p 7.0e-30
N 47,745
Large GWAS
European
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ClinVar annotation

Uncertain Significance★☆☆☆
3 submitters4 publications

Birbeck granule deficiency

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About CD207

The protein encoded by this gene is expressed only in Langerhans cells which are immature dendritic cells of the epidermis and mucosa. It is localized in the Birbeck granules, organelles present in the cytoplasm of Langerhans cells and consisting of superimposed and zippered membranes. It is a C-type lectin with mannose binding specificity, and it has been proposed that mannose binding by this protein leads to internalization of antigen into Birbeck granules and providing access to a nonclassical antigen-processing pathway. Mutations in this gene result in Birbeck granules deficiency or loss of sugar binding activity. [provided by RefSeq, Aug 2010]

View all CD207 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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