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F5

Coagulation factor V

Gene Number: 2153

Location: 1q24.2

Key Functions: Blood coagulation, thrombin generation, clot formation, hemostasis regulation


F5 encodes coagulation factor V, a protein that acts as a critical cofactor in the blood clotting cascade by accelerating the conversion of prothrombin to thrombin. Proper F5 activity is essential for rapid and effective clot formation following vascular injury.


Mutations in F5, such as the Factor V Leiden variant, disrupt normal anticoagulant regulation and increase the risk of thrombosis. Defective regulation of F5 activity is a major cause of inherited clotting disorders like venous thromboembolism.

SNP ID
Your Genotype
Alternative Alleles
Interpretation
rs6025
No matching variant or no valid DNA data
T
No interpretation available
rs12120605
No matching variant or no valid DNA data
T
No interpretation available
rs6025

  • CC – Typical clotting risk (R).

  • CT – Markedly increased risk of venous thromboembolism; classic Factor V Leiden carrier (R).

  • TT – Very high thrombosis risk ; homozygous Factor V Leiden (11.4x higher risk of thrombosis) (R).

Functional effect: The A allele causes p.Arg506Gln (R506Q) in Factor V, leading to activated protein C (APC) resistance and a pro-thrombotic state (R).


rs12120605

  • GG – Baseline genotype; no established effect on thrombosis risk (R).

  • GT – T allele has been associated with higher breast cancer risk in case-control data; effect appears context- and population-dependent (R).

  • TT –Less common; studies suggest the same direction of association as GT where observed (R).


Learn more about what you can do to mitigate risks, and other factors involved by becoming a member of GenesUnveiled today!

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