rs678

This variant is located in the ITIH1 gene.

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GWAS Catalog Trait Associations (6)

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

blood protein amount

Emilsson V et al. “Co-regulatory networks of human serum proteins link genetics to disease.” Science (new York, N.y.) 361(6404):769-773 (2018)
Allele A
OR 0.88
p 3.0e-321
N 3,200
Large GWAS
European
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 A
OR 0.25
p 9.0e-48
N 5,347
Large GWAS
European

arylamine N-acetyltransferase 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 0.43
p 6.0e-240
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 —
β 0.340
p 1.0e-40
N 3,301
Large GWAS
European

inter-alpha-trypsin inhibitor heavy chain H1 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 0.12
p 3.0e-80
N 47,745
Large GWAS
European

pentraxin-related protein PTX3 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 0.07
p 9.0e-33
N 47,745
Large GWAS
European

SUN domain-containing protein 3 measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele T
OR 0.21
p 2.0e-16
N 3,301
Large GWAS
European

osteoarthritis, hip

Styrkarsdottir U et al. “Meta-analysis of Icelandic and UK data sets identifies missense variants in SMO, IL11, COL11A1 and 13 more new loci associated with osteoarthritis.” Nature Genetics 50(12):1681-1687 (2018)
Allele T
OR 1.08
p 2.0e-9
N 613,790
Meta-analysisLarge GWAS
European
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ClinVar annotation

Benign★★★☆
2 submitters2 publications
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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