rs2518134
This is a intron variant variant in the AHSG gene.
▶GWAS Catalog Trait Associations (14)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (14)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
calcium measurement
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.03
p 8.0e-55
N 394,642
Large GWAS
European
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 1.0e-17
N 355,605
Major Consortium StudyLarge GWAS
multi-ancestry
blood protein amount
Emilsson V et al. “Co-regulatory networks of human serum proteins link genetics to disease.” Science (new York, N.y.) 361(6404):769-773 (2018)
Allele T
OR 0.25
p 4.0e-25
N 3,200
Large GWAS
European
glycoprotein measurement
Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele T
OR 0.04
p 2.0e-22
N 128,809
Large GWAS
multi-ancestry
free cholesterol:total lipids ratio, intermediate density lipoprotein measurement
Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)
Allele C
OR 0.04
p 6.0e-19
N 115,082
Large GWAS
European
cholesterol 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 T
OR 0.02
p 3.0e-18
N 450,015
Large GWAS
multi-ancestry
free cholesterol to total lipids in very small 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 T
OR 0.02
p 6.0e-16
N 450,015
Large GWAS
multi-ancestry
free cholesterol to total lipids in IDL percentage
Davyson E et al. “Metabolomic Investigation of Major Depressive Disorder Identifies a Potentially Causal Association With Polyunsaturated Fatty Acids.” Biological Psychiatry 94(8):630-639 (2023)
Allele C
OR 0.04
p 2.0e-14
N 88,329
Large GWAS
European
cholesterol to total lipids in medium LDL percentage
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.01
p 4.0e-12
N 450,015
Large GWAS
multi-ancestry
phospholipids:total lipids ratio, blood VLDL cholesterol amount
Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)
Allele C
OR 0.03
p 1.0e-11
N 114,160
Large GWAS
European
Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele C
OR 0.03
p 5.0e-10
N 136,016
Large GWAS
multi-ancestry
triglycerides 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 T
OR 0.01
p 3.0e-11
N 450,015
Large GWAS
multi-ancestry
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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