rs61867369

This variant is located in the HABP2 gene.

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GWAS Catalog Trait Associations (1)

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

glypican-1 measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele T
OR 1.34
p 3.0e-18
N 3,301
Large GWAS
European
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ClinVar annotation

Likely Benign★★★☆
5 submitters2 publications

Factor VII Marburg I Variant Thrombophilia; not provided

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.

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