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Vertical cup-disc ratio

near RSPO4 · rs4816177

What the study found

Who was studied 65,680 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.00544 lower (95% confidence interval 0.0037-0.0072); p = 4 × 10−10.

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

Where it sits Chromosome 20, band 20p13 — between genes, 46.7 kb from RSPO4.

What each result means

A/A 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.
A/G One copy of the version the research linked to Vertical cup-disc ratio. That is a smaller link than two copies.
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.
Source

Questions about rs4816177

What is rs4816177?

rs4816177 is a single position in the genome, in or near the near RSPO4 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 rs4816177 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 rs4816177 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

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 (rs4816177). MyGeneLog™. https://www.mygenelog.com/variants/rs4816177

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