Standard

Glaucoma

CDKN2BAS · rs523096

Where this position leads

Condition: Glaucoma

rs523096 Condition: Glaucoma Glaucoma Condition rs523096 rs523096 CDKN2BAS

What the study found

Who was studied 286 Japanese ancestry cases, 557 Japanese ancestry controls; replicated in 334 Japanese ancestry cases, 701 Japanese ancestry controls.

The effect Each copy of the A allele carried 2.13 times the odds of Glaucoma (95% confidence interval 1.69-2.68); p = 5 × 10−11.

How common The A allele had a frequency of about 82% in the people studied.

Where it sits Chromosome 9, band 9p21.3 — in an intron of CDKN2B-AS1.

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 rs523096

What is rs523096?

rs523096 is a single position in the genome, in or near the CDKN2BAS 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 rs523096 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 rs523096 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 rs523096 come from?

GWAS Catalog, PLoS One 2012, PMID:22792221. 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 (rs523096). MyGeneLog™. https://www.mygenelog.com/variants/rs523096

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