rs2974937

This variant is located in the THBS3 gene.

GWAS Catalog Trait Associations (1)

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

level of alkaline phosphatase, placental type in blood

Allele T
OR 0.05
p 5.0e-34
N 47,745
Large GWAS
European

About THBS3

The protein encoded by this gene belongs to the thrombospondin family. Thrombospondin family members are adhesive glycoproteins that mediate cell-to-cell and cell-to-matrix interactions. This protein forms a pentameric molecule linked by a single disulfide bond. This gene shares a common promoter with metaxin 1. Alternate splicing results in coding and non-coding transcript variants. [provided by RefSeq, Nov 2011]

View all THBS3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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