rs1042464

This variant is located in the HRG gene.

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GWAS Catalog Trait Associations (6)

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

anosmin-1 measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 0.40
p 7.0e-203
N 10,708
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 0.38
p 1.0e-100
N 5,347
Large GWAS
European
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 0.32
p 2.0e-19
N 1,252
Large GWAS
multi-ancestry

peptidyl-prolyl cis-trans isomerase F, mitochondrial measurement

Kuliesius J et al. “Efficient candidate drug target discovery through proteogenomics in a Scottish cohort.” Communications Biology 8(1):1300 (2025)
Allele T
OR 0.94
p 1.0e-33
N 200
Small GWAS
European

CCL23 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 A
OR 0.41
p 3.0e-27
N 1,136
Large GWAS
multi-ancestry

protein 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 0.63
p 2.0e-24
N 466
Small GWAS
African American or Afro-Caribbean

NTF2-related export protein 1 measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele T
OR 0.24
p 7.0e-22
N 3,301
Large GWAS
European
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ClinVar annotation

Benign★★★☆
3 submitters1 publication

Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency; not provided; not specified

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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