rs16860992

This variant is located in the HRG gene.

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GWAS Catalog Trait Associations (9)

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

protein DEPP measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)

Allele C

OR 1.13

p —

N 3,301

Large GWAS

European

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 0.85

p 2.0e-144

N 2,935

Large GWAS

Greater Middle Eastern (Middle Eastern, North African or Persian)

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 0.20

p 6.0e-16

N 5,357

Large GWAS

European

dual specificity mitogen-activated protein kinase kinase 4 measurement

Allele C

OR 0.76

p 9.0e-116

N 2,935

Large GWAS

Greater Middle Eastern (Middle Eastern, North African or Persian)

non-histone chromosomal protein HMG-14 measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)

Allele C

OR 0.36

p 2.0e-109

N 10,708

Large GWAS

European

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)

Allele C

OR 0.51

p 2.0e-68

N 3,301

Large GWAS

European

Allele C

OR 0.70

p 4.0e-98

N 2,935

Large GWAS

Greater Middle Eastern (Middle Eastern, North African or Persian)

glucosamine-6-phosphate isomerase 1 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 0.08

p 1.0e-23

N 47,745

Large GWAS

European

level of Ras-related protein Ral-A 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 0.94

p 4.0e-17

N 199

Small GWAS

European

heat shock cognate 71 kda protein 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 C

OR 0.33

p 7.0e-15

N 1,256

Large GWAS

multi-ancestry

protein measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)

Allele C

OR 0.13

p 1.0e-14

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 C

OR 0.50

p 2.0e-85

N 5,365

Large 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]

rs16860992

GWAS Catalog Trait Associations (9)

protein DEPP measurement

CD27 antigen measurement

dual specificity mitogen-activated protein kinase kinase 4 measurement

non-histone chromosomal protein HMG-14 measurement

glucosamine-6-phosphate isomerase 1 measurement

level of Ras-related protein Ral-A in blood serum

heat shock cognate 71 kda protein measurement

protein measurement

blood protein amount

About HRG

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