rs1042779

This is a variant in the ITIH1 gene that changes a glutamine to an arginine.

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GWAS Catalog Trait Associations (11)

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

janus kinase and microtubule-interacting protein 3 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 0.60
p —
N 10,708
Large GWAS
European
Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele A
OR 0.79
p 3.0e-285
N 3,301
Large GWAS
European

single Ig IL-1-related receptor 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 0.94
p —
N 10,708
Large GWAS
European
Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele A
OR 0.81
p 2.0e-312
N 3,301
Large GWAS
European

inter-alpha-trypsin inhibitor heavy chain H1 measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele G
OR —
β 0.650
p 2.0e-171
N 3,301
Large GWAS
European

level of ubiquitin-conjugating enzyme E2 Q1 in blood serum

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 G
OR 0.89
p 1.0e-73
N 466
Small GWAS
African American or Afro-Caribbean

level of protein FAM110A 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 G
OR 1.13
p 1.0e-44
N 198
Small 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 A
OR 0.18
p 3.0e-40
N 10,708
Large GWAS
European
Western D et al. “Proteogenomic analysis of human cerebrospinal fluid identifies neurologically relevant regulation and implicates causal proteins for Alzheimer's disease.” Nature Genetics 56(12):2672-2684 (2024)
Allele A
OR 0.19
p 3.0e-13
N 2,549
Large GWAS
European

NudC domain-containing protein 3 measurement

Kuliesius J et al. “Efficient candidate drug target discovery through proteogenomics in a Scottish cohort.” Communications Biology 8(1):1300 (2025)
Allele G
OR 0.97
p 1.0e-31
N 196
Small GWAS
European

level of single Ig IL-1-related receptor in blood serum

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 G
OR 0.65
p 5.0e-31
N 466
Small GWAS
African American or Afro-Caribbean

sodium channel subunit beta-2 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 0.11
p 5.0e-17
N 10,708
Large GWAS
European
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ClinVar annotation

Benign
1 publication

INTER-ALPHA-TRYPSIN INHIBITOR, HEAVY CHAIN 1 POLYMORPHISM

View on ClinVar →

About ITIH1

This gene encodes a member of the inter-alpha-trypsin inhibitor family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the heavy chain of the inter-alpha-trypsin inhibitor complex, which is secreted by hepatocytes into the blood. The heavy chain also interacts with hyaluronan, and this interaction may play a role in ovulation and fertilization, and has been implicated in multiple inflammatory diseases. This gene is present in a gene cluster on chromosome 3. [provided by RefSeq, Nov 2015]

View all ITIH1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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