rs2070633

This is a intron variant variant in the AHSG gene.

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GWAS Catalog Trait Associations (3)

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 T
OR 0.23
p 3.0e-37
N 5,361
Large GWAS
European

metabolite measurement, diet measurement

Dong X et al. “Unprocessed Red Meat and Processed Meat Consumption, Plasma Metabolome, and Risk of Ischemic Heart Disease: A Prospective Cohort Study of UK Biobank.” Journal of the American Heart Association 12(7):e027934 (2023)
Allele T
OR —
β 0.025
p 4.0e-9
N 92,246
Major Consortium StudyLarge 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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