rs9898

This is a protein-altering 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.

histidine-rich glycoprotein 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 T
OR 0.81
p 2.0e-185
N 2,935
Large GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)

blood coagulation trait

Tang W et al. “Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.” American Journal of Human Genetics 91(1):152-62 (2012)
Allele T
OR 1.00
p 1.0e-111
N 9,240
Large GWAS
European
Houlihan LM et al. “Common variants of large effect in F12, KNG1, and HRG are associated with activated partial thromboplastin time.” American Journal of Human Genetics 86(4):626-31 (2010)
Allele T
OR 0.26
p 1.0e-11
N 1,431
Large GWAS
European

blood protein amount

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 T
OR 0.29
p 7.0e-45
N 5,365
Large GWAS
European

persulfide dioxygenase ETHE1, mitochondrial 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 T
OR 0.37
p 7.0e-41
N 2,935
Large GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)

level of latexin in blood serum

Png G et al. “Mapping the serum proteome to neurological diseases using whole genome sequencing.” Nature Communications 12(1):7042 (2021)
Allele T
OR 0.32
p 2.0e-32
N 2,893
Large GWAS
European

plasma plasminogen 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 0.06
p 5.0e-23
N 47,745
Large GWAS
European

CD27 antigen 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 T
OR 0.54
p 2.0e-19
N 466
Small GWAS
African American or Afro-Caribbean

angiostatin measurement

Suhre K et al. “A genome-wide association study of mass spectrometry proteomics using a nanoparticle enrichment platform.” Nature Genetics 57(12):2987-2996 (2025)
Allele T
OR 0.30
p 8.0e-17
N 1,257
Large GWAS
multi-ancestry

aspartate aminotransferase measurement

Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
Allele T
OR 0.01
p 6.0e-13
N 928,679
Large GWAS
multi-ancestry
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.01
p 1.0e-8
N 493,058
Large GWAS
multi-ancestry
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ClinVar annotation

Benign★☆☆☆
4 submitters1 publication

HRG-related disorder; Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency

View on ClinVar →

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]

View all HRG variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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