rs2593813

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

▶

GWAS Catalog Trait Associations (5)

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

free cholesterol to total lipids in IDL percentage

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.03
p 5.0e-49
N 450,015
Large GWAS
multi-ancestry

calcium measurement

Young WJ et al. “Genetically Determined Serum Calcium Levels and Markers of Ventricular Repolarization: A Mendelian Randomization Study in the UK Biobank.” Circulation. Genomic and Precision Medicine 14(3):e003231 (2021)
Allele A
OR 0.00
p 6.0e-47
N 305,349
Major Consortium StudyLarge GWAS
European

cholesteryl esters to total lipids in chylomicrons and extremely large VLDL percentage

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.03
p 2.0e-34
N 450,015
Large GWAS
multi-ancestry

phospholipids:total lipids ratio

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.02
p 5.0e-21
N 450,015
Large GWAS
multi-ancestry

free cholesterol to total lipids in very large VLDL percentage

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.01
p 3.0e-11
N 450,015
Large GWAS
multi-ancestry
▶

ClinVar annotation

Benign
1 submitter1 publication

RECLASSIFIED - AHSG POLYMORPHISM

View on ClinVar →
▶

Research that mentions this SNP (1)

▶
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
PubMedDOIMetascience 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]

View all AHSG variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…