G
Genetic Archaeology
GENETIC ARCHAEOLOGY // PROFILE

F5

Coagulation Factor V

CHR 1
1q24.2

Overview

F5 encodes coagulation factor V. The Leiden mutation is one of the most common hereditary thrombophilias in Europe.

📍 Chromosomal Position

1q24.2 (Chromosome 1)

🧬 Gene Category

Detoxification

🔬 Inheritance

Autosomal dominant

📊 Prevalence

5% of Europeans

Function & Significance

Factor V is an important protein in the blood clotting cascade. The Factor V Leiden mutation (R506Q) makes the protein resistant to inactivation by activated protein C, leading to an increased tendency toward clotting.

⚠️ Thrombosis Risk

Increased risk for:

  • Heterozygous: 5-10 fold increased risk
  • Homozygous: 50-100 fold increased risk
  • Especially during: Pill use, pregnancy, surgery

🧬 Relevant SNPs

The Factor V Leiden mutation:

rs6025
1:169519049
Allele 1

T

/

Allele 2

C

Significance: Factor V Leiden (R506Q) – most common hereditary thrombophilia. The C allele leads to APC resistance (activated protein C cannot inactivate Factor V).

💊 Management

  • Thrombosis Prophylaxis: In risk situations (surgery, long flights)
  • Contraception: Avoid estrogen-containing pills
  • Pregnancy: Close monitoring, heparin if necessary
  • Lifestyle: Exercise, maintain normal weight
  • Compression Stockings: During long-distance travel

📚 Data Sources

The information on this page is based on the following scientific sources:

  • OMIM: #612309 – Online Mendelian Inheritance in Man
  • dbSNP: rs6025 – SNP Database (NCBI)
  • ClinVar: Clinical Variant Database (NCBI)
  • Factor V Leiden Guidelines: Thrombophilia Clinical Practice
  • PubMed: Thrombosis & Hemostasis Research

Last Update: February 2026

Biological Function

Factor V is an important protein in the blood coagulation cascade. The Factor V Leiden mutation (R506Q) makes the protein resistant to inactivation by activated Protein C, leading to an increased tendency to clot.

Associated Conditions

Factor V Leiden Thrombophilia Venous Thromboembolism Deep Vein Thrombosis Pulmonary Embolism
Molecular Analysis

Analyzed Markers

rs6025 Pathogenic (Risk Factor)
Pos: 1:169519049 | Alleles: T/C

Factor V Leiden (R506Q) - Most common hereditary thrombophilia