rs141696263

This variant is located in the SERPINF2 gene.

GWAS Catalog Trait Associations (1)

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

Hodgkins lymphoma

Osman Y et al. Functional multigenic variations associated with hodgkin lymphoma. International Journal of Laboratory Hematology 43(6):1472-1482 (2021)
Allele A
OR
β 0.022
p 5.0e-11
N 97
Small GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)

ClinVar annotation

Likely Benign☆☆☆
2 submitters1 publication

SERPINF2-related disorder; not provided

View on ClinVar →

About SERPINF2

This gene encodes a member of the serpin family of serine protease inhibitors. The protein is a major inhibitor of plasmin, which degrades fibrin and various other proteins. Consequently, the proper function of this gene has a major role in regulating the blood clotting pathway. Mutations in this gene result in alpha-2-plasmin inhibitor deficiency, which is characterized by severe hemorrhagic diathesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

View all SERPINF2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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