Genetic variant
rs6025 a variant in the F5 gene
rs6025 is a single-letter difference in the F5 gene, on chromosome 1. ClinVar, the public archive of variant interpretations, lists it as conflicting interpretations: laboratories that have assessed it do not agree on whether it matters. It has been reported in connection with Budd-Chiari syndrome, susceptibility to and Ischemic stroke, among others. Carrying it does not, on its own, mean you have or will develop any condition.
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 rs6025 is the catalogue number of one of them, in the F5 gene. Which letters you carry there — one copy from each parent — is your genotype.
F5 (coagulation factor V): This gene encodes an essential cofactor of the blood coagulation cascade. This factor circulates in plasma, and is converted to the active form by the release of the activation peptide by thrombin during coagulation. This generates a heavy chain and a light chain which are held together by calcium ions.
Gene description from NCBI Gene
rs6025 represents a SNP in the Factor V F5 gene, encoding a change in the protein from an arginine a...
From SNPedia
Why might it matter?
ClinVar records this variant as conflicting interpretations, meaning laboratories that have assessed it do not agree on whether it matters. 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
- Budd-Chiari syndrome, susceptibility to
- Ischemic stroke
- Pregnancy loss, recurrent
- 1
- Factor V deficiency
- Thrombophilia due to activated protein C resistance
- Susceptibility to severe coronavirus disease (COVID-19) due to an impaired coagulation process
- Inborn genetic diseases
- hormonal contraceptives for systemic use response - Toxicity
- Congenital factor V deficiency
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.
Supplements
Do I have this variant?
If you have taken a consumer DNA test (23andMe, AncestryDNA and similar), you can download its raw data file and check. Create a free account, upload the file, and this page will show the letters you carry at rs6025, if your test read this position.
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 F5
Factor V Leiden increases blood clotting risk. Relevant before surgery or long flights.
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?
- Find out whether you carry it. Reading about a variant says nothing about you until you know your genotype.
- Put it in context. Add your blood results, so the variant can be read against what your body is doing.
- Ask questions. Dr. Hemsworth, our AI assistant, can explain this variant and your results in plain English.
- 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
- rs6025
- Gene
- F5
- Position (GRCh38)
- chr1:169549810
- Variant type
- snv
- Consequence
- missense variant
- ClinVar classification
- Conflicting classifications of pathogenicity
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Venous thromboembolism | T | OR 1.09 | 4E-1051 | PubMed |
| Venous thromboembolism | T | OR 1.09 | 2E-1028 | PubMed |
| Venous thromboembolism | T | OR 1.1 | 8E-811 | PubMed |
| Venous thromboembolism | T | OR 2.53 | 1E-300 | PubMed |
| Venous thromboembolism | T | OR 1.11 | 2E-245 | PubMed |
| Venous thromboembolism | — | OR 2.38 | 2E-202 | PubMed |
| Venous thromboembolism or von Willebrand factor levels (pleiotropy) | — | — | 1E-194 | PubMed |
| Venous thromboembolism or fibrinogen levels (pleiotropy) | — | — | 2E-194 | PubMed |
| Venous thromboembolism or factor VIII levels (pleiotropy) | — | — | 9E-193 | PubMed |
| Venous thromboembolism or factor VII levels (pleiotropy) | — | — | 1E-190 | PubMed |
| Venous thromboembolism or plasminogen activator inhibitor 1 levels (pleiotropy) | — | — | 3E-190 | PubMed |
| Venous thromboembolism or factor XI levels (pleiotropy) | — | — | 1E-189 | PubMed |
| Venous thromboembolism | — | OR 0.87 | 1E-188 | PubMed |
| Venous thromboembolism | T | OR 2.39 | 1E-188 | PubMed |
| Deep venous thrombosis | C | OR 0.99 | 7E-154 | PubMed |
| Thrombosis | T | OR 2.93 | 4E-137 | PubMed |
| Venous thromboembolism | T | OR 3.25 | 1E-96 | PubMed |
| Venous thromboembolism | T | OR 3.5 | 7E-50 | PubMed |
| Iron status biomarkers (ferritin levels) | T | OR 0.15 | 7E-37 | PubMed |
| Pulmonary embolism | C | OR 0.73 | 4E-30 | PubMed |
How common the less frequent letter is
- gnomAD ALL
- 97.8%
- 1kG AFR
- 100%
- 1kG ALL
- 99.4%
- 1kG AMR
- 1%
- 1kG EAS
- 100%
- 1kG EUR
- 1.2%
- 1kG SAS
- 98.9%
Sources
- dbSNP: rs6025 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- NCBI Gene: F5
- Ensembl: F5
- GWAS Catalog — association studies