What you carry at this position in your DNA and what research says about it.
Blood Clot Risk: 7/10 evidence, 30 publications.
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Sample genotype (not yours): A/A
Higher Risk of Venous Blood Clots
Carrying two copies of the A allele is associated with an elevated risk of deep vein thrombosis and pulmonary embolism. This is driven by higher baseline platelet counts and increased clotting factor activity.
What this genotype means: Higher baseline platelet count; Elevated risk of deep vein thrombosis; Increased circulating VEGF-A levels.
Sample genotype (not yours): A/T
Slightly Elevated Risk of Blood Clots
Carrying one copy of the A allele is linked to a mild increase in platelet counts and a slightly elevated risk of venous blood clots compared to the T/T genotype.
What this genotype means: Moderately higher platelet count; Slightly increased risk of venous thromboembolism; Intermediate circulating VEGF-A levels.
Sample genotype (not yours): T/T
Typical Risk of Venous Blood Clots
Carrying two copies of the T allele is associated with a lower baseline platelet count and a reduced risk of developing venous blood clots.
What this genotype means: Lower baseline platelet count; Reduced risk of venous thromboembolism; Lower circulating VEGF-A levels.
Gene function and biological role
Gene Function: The ZFPM2 gene encodes a protein known as Friend of GATA 2 (FOG2), which acts as a crucial regulator of GATA transcription factors. This gene is essential for normal heart development, blood cell production, and the maturation of megakaryocytes, the cells that produce platelets [1]. By modulating GATA activity, ZFPM2 influences the expression of numerous downstream genes involved in vascular growth and blood clotting. It is highly active in the cardiovascular system and blood-forming tissues.
Variant Impact: The rs6993770 variant is located within an intron of the ZFPM2 gene and serves as a major genetic regulator of blood cell traits and vascular proteins. It is one of the strongest known genetic determinants of circulating vascular endothelial growth factor A (VEGF-A) levels [2]. Additionally, this variant significantly influences platelet count, platelet volume, and the levels of key clotting factors in the bloodstream [3]. Through these hematological pathways, the variant alters an individual's baseline susceptibility to venous blood clots.
Key Insight: This single genetic letter change is one of the most powerful regulators of VEGF-A in the human body, explaining a substantial portion of its natural variation. It directly links the rate of platelet production to the risk of developing deep vein thrombosis.
Location: ZFPM2. Chromosome 8 · 8q23.1 · 105.6 Mb
Estimated prevalence by population
Global 47.4%; European 51.6%; African 38.6%; East Asian 35.5%; South Asian 42.4%; Americas 48.7%; Ashkenazi 41.3%; Finnish 61.1%; Middle Eastern 48.6%; Amish 71.0%.
Estimated AA genotype frequency.
Global 42.5%; European 40.5%; African 47.0%; East Asian 48.2%; South Asian 45.4%; Americas 42.2%; Ashkenazi 45.9%; Finnish 34.1%; Middle Eastern 42.2%; Amish 26.5%.
Estimated AT genotype frequency.
Global 10.1%; European 7.9%; African 14.3%; East Asian 16.4%; South Asian 12.2%; Americas 9.1%; Ashkenazi 12.8%; Finnish 4.8%; Middle Eastern 9.2%; Amish 2.5%.
Estimated TT genotype frequency.
Showing effects for A/A genotype
Cardiovascular & Metabolic
Coagulation & Clotting
Blood Clot Risk. Evidence: 7/10. Source: PMID 35285134. Increased Risk.
Blood Cell & Iron Traits
Platelet Count. Evidence: 10/10. Source: PMID 22139419. Higher Count.
Mean Platelet Volume. Evidence: 10/10. Source: PMID 27863252. Smaller Platelets.
Immunity & Inflammation
Inflammatory & Circulating Protein Markers
VEGF-A Levels. Evidence: 8/10. Source: PMID 21757650. Higher Levels.
Showing effects for A/T genotype
Blood Clot Risk. Evidence: 7/10. Source: PMID 35285134. Slightly Increased.
Platelet Count. Evidence: 10/10. Source: PMID 22139419. Typical Count.
Mean Platelet Volume. Evidence: 10/10. Source: PMID 27863252. Typical Size.
VEGF-A Levels. Evidence: 8/10. Source: PMID 21757650. Typical Levels.
Showing effects for T/T genotype
Blood Clot Risk. Evidence: 7/10. Source: PMID 35285134. Typical Risk.
Platelet Count. Evidence: 10/10. Source: PMID 22139419. Lower Count.
Mean Platelet Volume. Evidence: 10/10. Source: PMID 27863252. Larger Platelets.
VEGF-A Levels. Evidence: 8/10. Source: PMID 21757650. Lower Levels.
What this genotype means for the people who carry it
Sample genotype: AA (Homozygous)
Having the A/A genotype places you at an increased risk for venous thromboembolism, which includes deep vein thrombosis and pulmonary embolism [1]. This elevated risk is closely tied to how your ZFPM2 gene regulates blood cell production. Specifically, this genotype is strongly associated with a higher overall platelet count [2]. Furthermore, it leads to increased levels of vascular endothelial growth factor A (VEGF-A) and plasminogen activator inhibitor 1 (PAI-1), both of which promote a more pro-inflammatory and pro-thrombotic state in the blood vessels [3]. While this genetic profile increases the likelihood of clot formation, lifestyle factors such as physical activity and avoiding prolonged immobility remain critical in managing your overall vascular health.
Higher baseline platelet count; Elevated risk of deep vein thrombosis; Increased circulating VEGF-A levels.
Sample genotype: AT (Heterozygous)
Having the intermediate A/T genotype means you carry one copy of the risk-associated A allele. This results in a moderate increase in your baseline platelet count compared to those with the T/T genotype [1]. Your circulating levels of VEGF-A and other vascular signaling proteins are typically in the average range [2]. Because you carry one risk allele, your susceptibility to venous thromboembolism is slightly elevated compared to the protective T/T baseline, but lower than those with two copies of the A allele [3]. Maintaining an active lifestyle and staying hydrated during long travel can help mitigate this mild genetic predisposition.
Moderately higher platelet count; Slightly increased risk of venous thromboembolism; Intermediate circulating VEGF-A levels.
Sample genotype: TT (Homozygous)
Having the T/T genotype is highly protective against the elevated blood clot risks associated with this gene. This genetic profile is linked to a lower baseline platelet count, which naturally reduces the density of clotting cells in your bloodstream [1]. Additionally, individuals with this genotype exhibit lower circulating levels of VEGF-A and plasminogen activator inhibitor 1 (PAI-1), a protein that otherwise prevents the body from breaking down clots [2]. Together, these physiological differences contribute to a significantly lower risk of venous thromboembolism [3]. While your genetic risk is low, standard cardiovascular health practices still apply to maintain optimal circulation.
Lower baseline platelet count; Reduced risk of venous thromboembolism; Lower circulating VEGF-A levels.
Variants with shared genetic architecture
rs10886430 · GRK5 Gene · Chr 10 · Blood Clot Risk
rs114694170 · MEF2C Gene · Chr 5 · Platelet and VEGF-A Levels
rs12445050 · PLCG2 Gene · Chr 16 · Blood Clot Risk
New gene functions in megakaryopoiesis and platelet formation.
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
Content updated August 2026.
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