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Vertical cup-disc ratio

CREB5 · rs2282909

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−8, with 1 associations in the GWAS Catalog.

How this is scored

4: ClinVar disease-causing, reviewed by an expert panel or a guideline (3–4 stars). 3: ClinVar, several labs agreeing (2 stars), or a genetic study at p ≤ 10−50. 2: ClinVar from one lab (1 star), or p ≤ 10−20. 1: ClinVar submitted without criteria (0 stars), or genome-wide significance (p ≤ 5×10−8). The higher of the two counts. It says how solid the evidence is, not whether it matters for a particular person.

What the study found

Who was studied 65,680 European ancestry individuals.

The effect Each copy of the T allele shifted the measure 0.00409 higher (95% confidence interval 0.0026-0.0056); p = 1 × 10−8.

How common The T allele had a frequency of about 27% in the people studied.

Where it sits Chromosome 7, band 7p14.3 — in an intron of CREB5.

What each result means

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

Questions about rs2282909

What is rs2282909?

rs2282909 is a single position in the genome, in or near the CREB5 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.

Does having rs2282909 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 rs2282909 come from?

GWAS Catalog, American journal of human genetics 2021, PMID:34077760. 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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Vertical cup-disc ratio (rs2282909). MyGeneLog™. https://www.mygenelog.com/variants/rs2282909

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