Standard

Glaucoma (primary open-angle)

PNPT1 · rs2627761

Where this position leads

Condition: Glaucoma

rs2627761 Condition: Glaucoma Glaucoma Condition rs2627761 rs2627761 PNPT1

What the study found

Who was studied 10,523 European ancestry cases, 203,579 European ancestry controls, 411 Hispanic cases, 4,778 Hispanic controls, 463 East Asian ancestry cases, 4,907 East Asian ancestry controls, 298 African American cases, 1,549 African American controls, 204 South Asian ancestry cases, 4,916 South Asian ancestry controls, 272 African British cases, 4,831 African British controls, 144 mixed ancestry cases, 3,427 mixed ancestry controls.

The effect Each copy of the C allele carried 1.11 times the odds of Glaucoma (primary open-angle) (95% confidence interval 1.07-1.15); p = 6 × 10−10.

Where it sits Chromosome 2, band 2p16.1 — between genes, 12 kb from PNPT1.

What each result means

C/C 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.
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 No copy of the version the research linked to Glaucoma (primary open-angle). This is the starting point the study compared everyone against.
Source

Questions about rs2627761

What is rs2627761?

rs2627761 is a single position in the genome, in or near the PNPT1 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 rs2627761 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 rs2627761 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 rs2627761 come from?

GWAS Catalog, Nat Commun 2018, PMID:29891935. 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) (rs2627761). MyGeneLog™. https://www.mygenelog.com/variants/rs2627761

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