rs7625980

This is a intron variant variant in the HRG gene.

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GWAS Catalog Trait Associations (11)

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

protein DEPP measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.71
p —
N 10,708
Large GWAS
European

protein measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 1.28
p —
N 10,708
Large GWAS
European

dual specificity mitogen-activated protein kinase kinase 4 measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele C
OR —
β 0.780
p 1.0e-185
N 3,301
Large GWAS
European
Thareja G et al. “Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations.” Human Molecular Genetics 32(6):907-916 (2023)
Allele C
OR 0.69
p 2.0e-107
N 2,935
Large GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)

CD27 antigen measurement

Thareja G et al. “Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations.” Human Molecular Genetics 32(6):907-916 (2023)
Allele C
OR 0.66
p 5.0e-98
N 2,935
Large GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)

microfibrillar-associated protein 2 measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.28
p 4.0e-70
N 10,708
Large GWAS
European

histidine-rich glycoprotein measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.24
p 3.0e-48
N 10,708
Large GWAS
European

ciliary neurotrophic factor receptor subunit alpha measurement

Kuliesius J et al. “Efficient candidate drug target discovery through proteogenomics in a Scottish cohort.” Communications Biology 8(1):1300 (2025)
Allele C
OR 1.27
p 7.0e-48
N 199
Small GWAS
European

MAP kinase-activated protein kinase 3 measurement

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 C
OR 0.25
p 3.0e-33
N 5,349
Large GWAS
European

gastrin-releasing peptide measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.18
p 4.0e-30
N 10,708
Large GWAS
European

level of chloride intracellular channel protein 2 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 0.84
p 4.0e-16
N 199
Small GWAS
European

About HRG

This histidine-rich glycoprotein contains two cystatin-like domains and is located in plasma and platelets. The physiological function has not been determined but it is known that the protein binds heme, dyes and divalent metal ions. The encoded protein also has a peptide that displays antimicrobial activity against C. albicans, E. coli, S. aureus, P. aeruginosa, and E. faecalis. It can inhibit rosette formation and interacts with heparin, thrombospondin and plasminogen. Two of the protein's effects, the inhibition of fibrinolysis and the reduction of inhibition of coagulation, indicate a potential prothrombotic effect. Mutations in this gene lead to thrombophilia due to abnormal histidine-rich glycoprotein levels. [provided by RefSeq, Nov 2014]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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