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Who was studied 16,677 European ancestry cases, 199,580 European ancestry controls; replicated in 7,286 European ancestry cases, 107,362 European ancestry controls, 6,935 East Asian ancestry cases, 39,588 East Asian ancestry controls, 3,281 Sub-Saharan African ancestry cases, 2,791 Sub-Saharan African ancestry controls.
The effect
Each copy of the A allele carried 1.12 times the odds of Glaucoma (primary open-angle) (95% confidence interval 1.1-1.15); p = 3 × 10−16.
Where it sits Chromosome 7, band 7q31.2 — between genes, 5.5 kb from CAV1.
What each result means
A/ATwo copies of the version the research linked to Glaucoma (primary open-angle). 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 Glaucoma (primary open-angle). That is a smaller link than two copies.
G/GNo copy of the version the research linked to Glaucoma (primary open-angle). This is the starting point the study compared everyone against.
Nature communications · 2021 · PMID 33627673 · open access
Questions about rs12540035
What is rs12540035?
rs12540035 is a single position in the genome, in or near the CAV2 gene. Published research associates it with glaucoma (primary open-angle). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
What conditions is rs12540035 linked to?
On MyGeneLog this position is linked to Glaucoma. The research behind each link, and its sources, are set out on that condition page.
Does having rs12540035 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 rs12540035 come from?
GWAS Catalog, Nature communications 2021, PMID:33627673. 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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