rs7080536

This is a variant in the HABP2 gene that changes a glycine to an glutamate.

▶

GWAS Catalog Trait Associations (33)

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

level of heme oxygenase 1 in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.30
p 2.0e-120
N 47,745
Large GWAS
European

lamin-B1 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.26
p 5.0e-71
N 47,745
Large GWAS
European

C-type lectin domain family 5 member A measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele A
OR —
β 1.010
p 6.0e-63
N 3,301
Large GWAS
European

level of Delta(14)-sterol reductase LBR in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.20
p 5.0e-46
N 47,745
Large GWAS
European

C-type lectin domain family 2 member A 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 5.0e-43
N 10,708
Large GWAS
European

polycystin-2 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.20
p 1.0e-42
N 47,745
Large GWAS
European

interferon gamma receptor 1 measurement

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 0.54
p 4.0e-31
N 5,366
Large GWAS
European
Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 0.24
p 6.0e-14
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 0.63
p 4.0e-24
N 3,301
Large GWAS
European

level of long-chain fatty acid transport protein 4 in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.17
p 4.0e-30
N 47,745
Large GWAS
European

level of krueppel-like factor 4 in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.16
p 4.0e-27
N 47,745
Large GWAS
European
▶

ClinVar annotation

Risk Factor★★★☆
5 submitters10 publications

FACTOR VII-ACTIVATING PROTEASE MARBURG I POLYMORPHISM; Factor VII Marburg I Variant Thrombophilia; THYROID CANCER, NONMEDULLARY, 5, SUSCEPTIBILITY TO; Thyroid cancer, nonmedullary, 5 (NMTC5); Venous thromboembolism, susceptibility to

View on ClinVar →

About HABP2

This gene encodes a member of the peptidase S1 family of serine proteases. The encoded preproprotein is secreted by hepatocytes and proteolytically processed to generate heavy and light chains that form the mature heterodimer. Further autoproteolysis leads to smaller, inactive peptides. This extracellular protease binds hyaluronic acid and may play a role in the coagulation and fibrinolysis systems. Mutations in this gene are associated with nonmedullary thyroid cancer and susceptibility to venous thromboembolism. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]

View all HABP2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…