rs73235147

This variant is located in the BOC gene.

GWAS Catalog Trait Associations (1)

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

blood protein amount

Emilsson V et al. Co-regulatory networks of human serum proteins link genetics to disease. Science (new York, N.y.) 361(6404):769-773 (2018)
Allele A
OR 0.24
p 1.0e-13
N 3,200
Large GWAS
European

About BOC

The protein encoded by this gene is a member of the immunoglobulin/fibronectin type III repeat family. It is a component of a cell-surface receptor complex that mediates cell-cell interactions between muscle precursor cells, and promotes myogenic differentiation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2014]

View all BOC variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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