rs8081669

This is a intron variant variant in the CD300E gene.

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GWAS Catalog Trait Associations (1)

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

blood protein amount

Gudjonsson A et al. “A genome-wide association study of serum proteins reveals shared loci with common diseases.” Nature Communications 13(1):480 (2022)

Allele A

OR 0.25

p 7.0e-40

N 5,368

Large GWAS

European

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 0.27

p 4.0e-27

N 3,200

Large GWAS

European

About CD300E

This gene encodes a member of the CD300 glycoprotein family of cell surface proteins expressed on myeloid cells. The protein interacts with the TYRO protein tyrosine kinase-binding protein and is thought to act as an activating receptor. [provided by RefSeq, Nov 2012]

View all CD300E variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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