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Keratoconus

PTGER3 · rs2300163

Where this position leads

Condition: Keratoconus

rs2300163 Condition: Keratoconus Keratoconus Condition rs2300163 rs2300163 PTGER3

What the study found

Who was studied 853 Chinese ancestry cases, 6,248 Chinese ancestry controls.

The effect Each copy of the T allele carried 2.66 times the odds of Keratoconus (95% confidence interval 1.947-3.63); p = 8 × 10−10.

How common The T allele had a frequency of about 1% in the people studied.

Where it sits Chromosome 1, band 1p31.1 — in an intron of PTGER3.

What each result means

C/C No copy of the version the research linked to Keratoconus. This is the starting point the study compared everyone against.
C/T One copy of the version the research linked to Keratoconus. That is a smaller link than two copies.
T/T Two copies of the version the research linked to Keratoconus. That is the strongest link of the three results. A link in a study is not a diagnosis.
Source

Questions about rs2300163

What is rs2300163?

rs2300163 is a single position in the genome, in or near the PTGER3 gene. Published research associates it with keratoconus. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs2300163 linked to?

On MyGeneLog this position is linked to Keratoconus. The research behind each link, and its sources, are set out on that condition page.

Does having rs2300163 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 rs2300163 come from?

GWAS Catalog, Investigative ophthalmology & visual science 2024, PMID:38767907. 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.

Keratoconus (rs2300163). MyGeneLog™. https://www.mygenelog.com/variants/rs2300163

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