rs1800801

This is a regulatory region variant variant in the MGP gene.

GWAS Catalog Trait Associations (2)

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

grip strength measurement

Allele T
OR 0.02
p 3.0e-30
N 394,642
Large GWAS
European

osteoarthritis, hand

Allele T
OR 1.37
p 4.0e-13
N 552,164
Meta-analysisLarge GWAS
European

ClinVar annotation

Benign★★★
4 submitters2 publications

Keutel syndrome (KTLS)

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About MGP

This gene encodes a member of the osteocalcin/matrix Gla family of proteins. The encoded vitamin K-dependent protein is secreted by chondrocytes and vascular smooth muscle cells, and functions as a physiological inhibitor of ectopic tissue calcification. Carboxylation status of the encoded protein is associated with calcification of the vasculature in human patients with cardiovascular disease and calcification of the synovial membranes in osteoarthritis patients. Mutations in this gene cause Keutel syndrome in human patients, which is characterized by abnormal cartilage calcification, peripheral pulmonary stenosis and facial hypoplasia. [provided by RefSeq, Sep 2016]

View all MGP variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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