Trait
Blood clot in a deep vein
Clinical name: Deep venous thrombosis
Formation of a blot clot in a deep vein. The clot often blocks blood flow, causing swelling and pain. The deep veins of the leg are most often affected.
Summary
- Also called
- Deep vein thrombosis, Multiple deep venous thrombosis
Reference genomeGRCh38hg38
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Get my Genome Test21 genes linked to Blood clot in a deep vein
Changes in these genes cause rare conditions in which Blood clot in a deep vein is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| EPAS1endothelial PAS domain protein 1 | Always | In 1 condition |
| F9coagulation factor IX | Always | In 1 condition |
| F8coagulation factor VIII | Often (30–79%) | In 1 condition |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Often (30–79%) | In 1 condition |
| PROS1protein S | Often (30–79%) | In 1 condition |
| SERPINC1serpin family C member 1 | Often (30–79%) | In 2 conditions |
| THBDthrombomodulin | Often (30–79%) | In 1 condition |
| ACVR1activin A receptor type 1 | Sometimes (5–29%) | In 1 condition |
| MMACHCmetabolism of cobalamin associated C | Sometimes (5–29%) | In 1 condition |
| MTHFRmethylenetetrahydrofolate reductase | Sometimes (5–29%) | In 2 conditions |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Sometimes (5–29%) | In 1 condition |
| PIEZO1piezo type mechanosensitive ion channel component 1 (Er blood group) | Sometimes (5–29%) | In 1 condition |
| ALG6ALG6 alpha-1,3-glucosyltransferase | Rarely (1–4%) | In 1 condition |
| PMM2phosphomannomutase 2 | Rarely (1–4%) | In 1 condition |
| AKT1AKT serine/threonine kinase 1 | Not recorded | In 1 condition |
| F13A1coagulation factor XIII A chain | Not recorded | In 1 condition |
| F2coagulation factor II, thrombin | Not recorded | In 1 condition |
| F5coagulation factor V | Not recorded | In 1 condition |
| HABP2hyaluronan binding protein 2 | Not recorded | In 1 condition |
| PROCprotein C, inactivator of coagulation factors Va and VIIIa | Not recorded | In 1 condition |
| UBA1ubiquitin like modifier activating enzyme 1 | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
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Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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