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Who was studied 47,822 European ancestry cases, 918,195 European ancestry controls, 6,320 African ancestry cases, 118,144 African ancestry controls, 1,188 Hispanic cases, 45,634 Hispanic controls; replicated in 87,594 European ancestry cases, 1,588 African ancestry cases, 1,075 Hispanic cases, 273 South Asian ancestry cases, 700 East Asian ancestry cases, 3,322,939 controls.
The effect
Each copy of the A allele shifted the measure 0.084 lower (95% confidence interval 0.074-0.094); p = 1 × 10−55.
Where it sits Chromosome 12, band 12p13.31 — in an intron of VWF.
What ClinVar records
ClassificationBenign; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 2 submitters), last evaluated 2021-06-19.
ClinVar record 1258601NM_000552.5(VWF):c.2282-121T>C
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/GOne copy of the version the research linked to Venous thromboembolism. That is a smaller link than two copies.
G/GNo copy of the version the research linked to Venous thromboembolism. This is the starting point the study compared everyone against.
rs1558519 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 rs1558519 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 rs1558519 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 rs1558519 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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