rs2077119

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

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GWAS Catalog Trait Associations (1)

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

cardiovascular disease biomarker measurement

de Haan A et al. “Genetic Determinants of Serum Calcification Propensity and Cardiovascular Outcomes in the General Population.” Frontiers in Cardiovascular Medicine 8:809717 (2021)

Allele G

OR 31.31

p 8.0e-91

N 2,739

Large GWAS

European

About AHSG

The protein encoded by this gene is a negatively-charged serum glycoprotein that is synthesized by hepatocytes. The encoded protein consists of two polypeptide chains, which are both cleaved from a proprotein encoded from a single mRNA. It is involved in several processes, including endocytosis, brain development, and the formation of bone tissue. Defects in this gene are a cause of susceptibility to leanness. [provided by RefSeq, Aug 2017]

View all AHSG variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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