rs4917

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

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GWAS Catalog Trait Associations (8)

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

alpha-2-HS-glycoprotein measurement

Surapaneni A et al. “Identification of 969 protein quantitative trait loci in an African American population with kidney disease attributed to hypertension.” Kidney International 102(5):1167-1177 (2022)
Allele C
OR 1.26
p 3.0e-197
N 466
Small GWAS
African American or Afro-Caribbean

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 T
OR 32.85
p 2.0e-101
N 2,739
Large GWAS
European

level of protein FAM210A in blood serum

Kuliesius J et al. “Efficient candidate drug target discovery through proteogenomics in a Scottish cohort.” Communications Biology 8(1):1300 (2025)
Allele C
OR 1.26
p 3.0e-75
N 197
Small GWAS
European

glutaminyl-peptide cyclotransferase measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.07
p 6.0e-37
N 47,745
Large GWAS
European

melanoma-derived growth regulatory protein level

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.02
p 4.0e-20
N 47,745
Large GWAS
European

calcium measurement

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.03
p 7.0e-20
N 355,606
Major Consortium StudyLarge GWAS
multi-ancestry

otosclerosis

Rämö JT et al. “Genome-wide screen of otosclerosis in population biobanks: 27 loci and shared associations with skeletal structure.” Nature Communications 14(1):157 (2023)
Allele C
OR 0.84
p 3.0e-12
N 864,702
Large GWAS
European
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ClinVar annotation

Benign★☆☆☆
3 submitters4 publications

Alopecia-intellectual disability syndrome 1; RECLASSIFIED - AHSG POLYMORPHISM

View on ClinVar →
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Research that mentions this SNP (2)

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Genetic variation of FTO: rs1421085 T&gt;C, rs8057044 G&gt;A, rs9939609 T&gt;A, and copy number (CNV) in Mexican Mayan school‐aged children with obesity/overweight and with normal weight
ReviewLizbeth González‐Herrera et al.(2019)· American Journal of Human Biology

A literature review of 70 studies examining single nucleotide polymorphisms (SNPs) associated with obesity in Mexican populations published 2011-2021. The authors identified SNPs with differential behavior in Mexican compared to Caucasian populations, including rs17782313 (MC4R), rs6548238 (TMEM18), rs6265 (BDNF), rs7498665 (SH2B1), and notably rs6232 (PCSK1) associated with early-onset obesity in Mexican youth. The review emphasizes ethnicity-dependent genetic effects on BMI heritability (40-70%) and highlights genes involved in cholesterol metabolism and adipokine signaling pathways.

Traits studied:AdiposityBlood pressureBody mass index (BMI)Cardiovascular risk factorsDyslipidemiaInsulin resistanceMetabolic syndromeObesityOverweightType 2 diabetes
PubMedDOIMetascience Observatory
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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
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.

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