rs2228243

This variant is located in the HRG gene.

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GWAS Catalog Trait Associations (10)

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

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 G
OR 0.87
p 1.0e-237
N 3,301
Large GWAS
European
Suhre K et al. “Connecting genetic risk to disease end points through the human blood plasma proteome.” Nature Communications 8:14357 (2017)
Allele G
OR 0.94
p 4.0e-82
N 997
Small GWAS
multi-ancestry

leucine-rich PPR motif-containing protein, mitochondrial measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele G
OR 0.75
p 2.0e-165
N 3,301
Large GWAS
European

histidine-rich glycoprotein measurement

Suhre K et al. “Connecting genetic risk to disease end points through the human blood plasma proteome.” Nature Communications 8:14357 (2017)
Allele G
OR 1.01
p 5.0e-94
N 997
Small GWAS
multi-ancestry

solute carrier family 35 member G2 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 0.30
p 2.0e-74
N 10,708
Large GWAS
European

transmembrane protein 87B measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele G
OR 0.45
p 2.0e-52
N 3,301
Large GWAS
European

CD27 antigen measurement

Suhre K et al. “Connecting genetic risk to disease end points through the human blood plasma proteome.” Nature Communications 8:14357 (2017)
Allele G
OR 0.73
p 2.0e-45
N 997
Small GWAS
multi-ancestry

a disintegrin and metalloproteinase with thrombospondin motifs 13 measurement

Kalnapenkis A et al. “Genetic determinants of plasma protein levels in the Estonian population.” Scientific Reports 14(1):7694 (2024)
Allele G
OR 0.51
p 2.0e-14
N 497
Small GWAS
European

blood protein amount

Hillary RF et al. “Genome and epigenome wide studies of neurological protein biomarkers in the Lothian Birth Cohort 1936.” Nature Communications 10(1):3160 (2019)
Allele G
OR 0.41
p 8.0e-11
N 750
Small GWAS
European

semaphorin-3A measurement

Suhre K et al. “Connecting genetic risk to disease end points through the human blood plasma proteome.” Nature Communications 8:14357 (2017)
Allele G
OR 0.33
p 3.0e-10
N 997
Small GWAS
multi-ancestry
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ClinVar annotation

Benign★☆☆☆
2 submitters1 publication

HRG-related disorder; 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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