rs3136516

This is a downstream gene variant variant in the F2 gene.

▶

GWAS Catalog Trait Associations (4)

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

thrombin 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 0.12
p 1.0e-18
N 10,708
Large GWAS
European

venous thromboembolism

Lindström S et al. “Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism.” Blood 134(19):1645-1657 (2019)
Allele G
OR 1.08
p 1.0e-15
N 202,356
Large GWAS
multi-ancestry
Klarin D et al. “Genetic Analysis of Venous Thromboembolism in UK Biobank Identifies the ZFPM2 Locus and Implicates Obesity as a Causal Risk Factor.” Circulation. Cardiovascular Genetics 10(2) (2017)
Allele G
OR 1.10
p 8.0e-9
N 120,158
Major Consortium StudyLarge GWAS
European

prothrombin amount

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 0.10
p 9.0e-14
N 10,708
Large GWAS
European

triglyceride measurement

Koskeridis F et al. “Pleiotropic genetic architecture and novel loci for C-reactive protein levels.” Nature Communications 13(1):6939 (2022)
Allele A
OR 0.01
p 1.0e-8
N 361,194
Large GWAS
European
▶

ClinVar annotation

Benign★★★☆
4 submitters2 publications

Congenital prothrombin deficiency; Ischemic stroke; Pregnancy loss, recurrent, susceptibility to, 2 (RPRGL2); Thrombophilia due to thrombin defect (THPH1)

View on ClinVar →

About F2

This gene encodes the prothrombin protein (also known as coagulation factor II). This protein is proteolytically cleaved in multiple steps to form the activated serine protease thrombin. The activated thrombin enzyme plays an important role in thrombosis and hemostasis by converting fibrinogen to fibrin during blood clot formation, by stimulating platelet aggregation, and by activating additional coagulation factors. Thrombin also plays a role in cell proliferation, tissue repair, and angiogenesis as well as maintaining vascular integrity during development and postnatal life. Peptides derived from the C-terminus of this protein have antimicrobial activity against E. coli and P. aeruginosa. Mutations in this gene lead to various forms of thrombosis and dysprothrombinemia. Rapid increases in cytokine levels following coronavirus infections can dysregulate the coagulation cascade and produce thrombosis, compromised blood supply, and organ failure. [provided by RefSeq, May 2020]

View all F2 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…