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Who was studied 7,482 African ancestry cases, 129,975 African ancestry controls.
The effect
Each copy of the A allele shifted the measure 0.23 higher (95% confidence interval 0.17-0.29); p = 1 × 10−13.
How common The A allele had a frequency of about 89% in the people studied.
Where it sits Chromosome 12, band 12p13.31 — a missense change in VWF.
What ClinVar records
ClassificationBenign/Likely benign for Hereditary von Willebrand disease, von Willebrand disease type 1, von Willebrand disease type 3, von Willebrand disease type 2; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 9 submitters), last evaluated 2025-07-31.
ClinVar record 100224NM_000552.5(VWF):c.2451T>A (p.His817Gln)
What this is ClinVar's aggregate record for this position (as of its 2026-10-19 release), not a result about you. A classification describes the variant against the condition named, as laboratories submitted it. Whether a person carries this variant, and what that would mean for them, is a question for a clinical test and a genetic counsellor.
What each result means
A/ATwo copies of the version the research linked to Venous thromboembolism. That is the strongest link of the three results. A link in a study is not a diagnosis.
A/TOne copy of the version the research linked to Venous thromboembolism. That is a smaller link than two copies.
T/TNo copy of the version the research linked to Venous thromboembolism. This is the starting point the study compared everyone against.
rs57950734 is a single position in the genome, in or near the VWF gene. Published research associates it with venous thromboembolism. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
What conditions is rs57950734 linked to?
On MyGeneLog this position is linked to Venous Thromboembolism. The research behind each link, and its sources, are set out on that condition page.
Does having rs57950734 mean I will get this?
No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.
Where does the information about rs57950734 come from?
GWAS Catalog, Circulation 2022, PMID:36154123. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.
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