rs4918

This is a variant in the AHSG gene that changes a serine to an threonine.

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GWAS Catalog Trait Associations (2)

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

glycoprotein measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)

Allele C

OR 0.04

p 4.0e-77

N 450,015

Large GWAS

multi-ancestry

saturated fatty acids to total fatty acids percentage

Yuan F et al. “Blood metabolic biomarkers and colorectal cancer risk: results from large prospective cohort and Mendelian randomisation analyses.” British Journal of Cancer 133(1):94-103 (2025)

Allele G

OR 0.02

p 8.0e-12

N 199,732

Large GWAS

European

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ClinVar annotation

Benign★☆☆☆

3 submitters2 publications

Alopecia-intellectual disability syndrome 1; RECLASSIFIED - AHSG POLYMORPHISM

View on ClinVar →

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Research that mentions this SNP (1)

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AHSG gene variant is associated with leanness among Swedish men

AssociationN=504Catharina Lavebratt et al.(2005)· Human Genetics

This case-control study examined AHSG gene variants in 504 Swedish men (356 overweight/obese, 148 lean) and found that rs2593813 G/G genotype was more common in lean individuals (OR=2.01, P=0.009). The rs2593813:G-rs4917:Met-rs4918:Ser haplotype conferred increased risk for leanness (OR=1.90, P=0.027). These variants were in strong LD and associated with lower AHSG protein levels, supporting the hypothesis that reduced AHSG promotes insulin sensitivity and leanness.

Traits studied:Body Mass Index (BMI)LeannessObesity

PubMed DOI Metascience Observatory

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]