Standard

Primary open angle glaucoma (MTAG)

CELF2 · rs4749990

Where this position leads

Condition: Glaucoma

rs4749990 Condition: Glaucoma Glaucoma Condition rs4749990 rs4749990 CELF2

What the study found

Who was studied at least 29,241 European ancestry cases, at least 350,181 European ancestry controls (MTAG boosted by vertical cup-to-disc ratio and intraocular pressure samples).

The effect Each copy of the C allele shifted the measure 0.0637 lower (95% confidence interval 0.046-0.081); p = 2 × 10−12.

Where it sits Chromosome 10, band 10p14 — in an intron of CELF2.

What each result means

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

Questions about rs4749990

What is rs4749990?

rs4749990 is a single position in the genome, in or near the CELF2 gene. Published research associates it with primary open angle glaucoma (mtag). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs4749990 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 rs4749990 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 rs4749990 come from?

GWAS Catalog, Nature genetics 2023, PMID:37386247. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

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Primary open angle glaucoma (MTAG) (rs4749990). MyGeneLog™. https://www.mygenelog.com/variants/rs4749990

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