rs35834008

This is a intron variant variant in the CBLB gene.

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GWAS Catalog Trait Associations (1)

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

urticaria

McSweeney SM et al. “Genome-wide meta-analysis implicates variation affecting mast cell biology in urticaria.” The Journal of Allergy and Clinical Immunology 153(2):521-526.e11 (2024)
Allele C
OR 1.11
p 4.0e-14
N 664,970
Meta-analysisLarge GWAS
European

About CBLB

This gene encodes an E3 ubiquitin-protein ligase which promotes proteosome-mediated protein degradation by transferring ubiquitin from an E2 ubiquitin-conjugating enzyme to a substrate. The encoded protein is involved in the regulation of immune response by limiting T-cell receptor, B-cell receptor, and high affinity immunoglobulin epsilon receptor activation. Studies in mouse suggest that this gene is involved in antifungal host defense and that its inhibition leads to increased fungal killing. Manipulation of this gene may be beneficial in implementing immunotherapies for a variety of conditions, including cancer, autoimmune diseases, allergies, and infections. [provided by RefSeq, Sep 2017]

View all CBLB variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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