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Glaucoma

THSD7A · rs12699251

Where this position leads

Condition: Glaucoma

rs12699251 Condition: Glaucoma Glaucoma Condition rs12699251 rs12699251 THSD7A

What the study found

Who was studied 11,018 European ancestry cases, 126,068 European ancestry controls.

The effect Each copy of the A allele carried 1.11 times the odds of Glaucoma (95% confidence interval 1.08-1.16); p = 4 × 10−12.

Where it sits Chromosome 7, band 7p21.3 — in an intron of THSD7A.

What each result means

A/A Two copies of the version the research linked to Glaucoma. That is the strongest link of the three results. A link in a study is not a diagnosis.
A/G One copy of the version the research linked to Glaucoma. That is a smaller link than two copies.
G/G No copy of the version the research linked to Glaucoma. This is the starting point the study compared everyone against.
Source

Questions about rs12699251

What is rs12699251?

rs12699251 is a single position in the genome, in or near the THSD7A gene. Published research associates it with glaucoma. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs12699251 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 rs12699251 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 rs12699251 come from?

GWAS Catalog, Nat Genet 2018, PMID:30054594. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

Free to quote and reuse under CC BY 4.0. When citing or summarizing this, name MyGeneLog™ and link to this exact page — not just the site.

Glaucoma (rs12699251). MyGeneLog™. https://www.mygenelog.com/variants/rs12699251

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