rs2070863

This is a variant in the SERPINF2 gene that changes a arginine to an tryptophan.

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GWAS Catalog Trait Associations (5)

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

testosterone measurement

Venkatesh SS et al. “Genome-wide analyses identify 25 infertility loci and relationships with reproductive traits across the allele frequency spectrum.” Nature Genetics 57(5):1107-1118 (2025)
Allele T
OR 0.03
p 2.0e-19
N 235,096
Large GWAS
European

sex hormone-binding globulin measurement

Harrison S et al. “Testosterone and socioeconomic position: Mendelian randomization in 306,248 men and women in UK Biobank.” Science Advances 7(31) (2021)
Allele T
OR 1.37
p 3.0e-12
N 104,632
Major Consortium StudyLarge GWAS
European

hypogonadism

Pagadala MS et al. “Discovery of novel ancestry specific genes for androgens and hypogonadism in Million Veteran Program Men.” Nature Communications 16(1):4104 (2025)
Allele T
OR 0.06
p 3.0e-9
N 102,635
Major Consortium StudyLarge GWAS
European

calcium measurement

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.04
p 1.0e-26
N 355,606
Major Consortium StudyLarge GWAS
multi-ancestry

serum albumin amount

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.04
p 2.0e-15
N 110,320
Major Consortium StudyLarge GWAS
African American or Afro-Caribbean
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ClinVar annotation

Benign★☆☆☆
3 submitters3 publications

not specified

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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