rs1799963 a variant in the F2 gene

What is this?

Your DNA is a long sequence of four letters. At a few million positions, people commonly differ by a single letter; each of those positions is called a SNP (“snip”), and rs1799963 is the catalogue number of one of them, in the F2 gene. Which letters you carry there — one copy from each parent — is your genotype.

F2 (coagulation factor II, thrombin): 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.…

Gene description from NCBI Gene

rs1799963 is a SNP far more commonly known as the G20210A mutation of the prothrombin F2 gene. 23and...

From SNPedia

Why might it matter?

ClinVar records this variant as likely pathogenic, meaning probably able to cause or contribute to disease. A classification describes the variant, not you: what it means for one person depends on their genotype, their family history and often on other genes and circumstances.

Conditions it has been reported with

• Ischemic stroke
• Pregnancy loss, recurrent, susceptibility to
• 2
• Congenital prothrombin deficiency
• Venous thromboembolism
• Cerebral palsy
• Thrombophilia caused by F2 prothrombin deficiency
• Thrombophilia due to thrombin defect
• Inborn genetic diseases

Listed in ClinVar submissions for this variant. Being listed is a report of an association, not a statement that the variant causes the condition in any given person.

Do I have this variant?

Connect this with your blood results

A gene is a fixed instruction; a blood test shows what your body is doing now. CheckMyBloods reads the two side by side, so a variant can be set against the markers it could plausibly affect.

Blood markers related to F2

• Fibrinogen
• Prothrombin Time
• INR
• D-Dimer

Prothrombin gene variant increases clotting risk.

Blood markers do not diagnose a genetic condition, and a variant does not explain a blood result on its own. Together, with symptoms and family history, they give a clinician context.

What should I do next?

1. Find out whether you carry it. Reading about a variant says nothing about you until you know your genotype.
2. Put it in context. Add your blood results, so the variant can be read against what your body is doing.
3. Ask questions. Dr. Hemsworth, our AI assistant, can explain this variant and your results in plain English.
4. Take anything that worries you to a professional. A GP or genetic counsellor can order a confirmatory test and interpret it with your history.

This page is general information drawn from public research databases. It cannot diagnose anything, and it is not a substitute for advice from a doctor or genetic counsellor who knows your history.

Technical details

dbSNP ID

rs1799963

Gene

F2

Position

chr11:46739505

ClinVar classification

Pathogenic/Likely pathogenic/Pathogenic, low penetrance/Established risk allele; risk factor

Genome-wide association studies (20)

Sources

• dbSNP: rs1799963 — the reference record
• ClinVar — clinical interpretations submitted by laboratories
• SNPedia — community-written summaries
• NCBI Gene: F2
• Ensembl: F2
• GWAS Catalog — association studies

Related

Other variants in F2

• rs62623459
• rs121918477
• rs121918478
• rs121918479
• rs121918480
• rs121918481
• rs121918482
• rs387906522
• rs121918483
• rs121918484

• The F2 gene
• SNP explorer
• Gene directory
• Health conditions