Standard

Vertical cup-disc ratio

CDKN2B-AS1 · rs2157719

Where this position leads

Condition: Glaucoma

rs2157719 Condition: Glaucoma Glaucoma Condition rs2157719 rs2157719 CDKN2B-AS1

What the study found

Who was studied 21,768 European ancestry individuals, 2,131 Erasmus Rucphen (founder/genetic isolate) individuals; replicated in 8,168 Asian ancestry individuals.

The effect Each copy of the C allele shifted the measure 0.013 lower (95% confidence interval 0.011-0.015); p = 4 × 10−35.

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

What each result means

C/C Two copies of the version the research linked to Vertical cup-disc ratio. 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 Vertical cup-disc ratio. That is a smaller link than two copies.
T/T No copy of the version the research linked to Vertical cup-disc ratio. This is the starting point the study compared everyone against.
Source

Questions about rs2157719

What is rs2157719?

rs2157719 is a single position in the genome, in or near the CDKN2B-AS1 gene. Published research associates it with vertical cup-disc ratio. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs2157719 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 rs2157719 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 rs2157719 come from?

GWAS Catalog, Hum Mol Genet 2017, PMID:28073927. 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.

Vertical cup-disc ratio (rs2157719). MyGeneLog™. https://www.mygenelog.com/variants/rs2157719

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