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Glaucoma (primary open-angle)

TFAP2B-PKHD1 · rs2491422

Where this position leads

Condition: Glaucoma

rs2491422 Condition: Glaucoma Glaucoma Condition rs2491422 rs2491422 TFAP2B-PKHD1

What the study found

Who was studied 9,179 European ancestry cases, 134,471 European ancestry controls, 1,983 East Asian ancestry cases, 13,719 East Asian ancestry controls, 127 Sub-Saharan African ancestry cases, 100 Sub-Saharan African ancestry controls.

The effect Each copy of the T allele carried 0.82 times the odds of Glaucoma (primary open-angle) (95% confidence interval 0.77-0.87); p = 3 × 10−13.

Where it sits Chromosome 6, band 6p12.3 — between genes, 31.3 kb from RPS15AP20.

What each result means

C/C No copy of the version the research linked to Glaucoma (primary open-angle). This is the starting point the study compared everyone against.
C/T One copy of the version the research linked to Glaucoma (primary open-angle). That is a smaller link than two copies.
T/T Two 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.
Source

Questions about rs2491422

What is rs2491422?

rs2491422 is a single position in the genome, in or near the TFAP2B-PKHD1 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 rs2491422 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 rs2491422 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 rs2491422 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.

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 (primary open-angle) (rs2491422). MyGeneLog™. https://www.mygenelog.com/variants/rs2491422

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