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Fuchs's corneal dystrophy

COL18A1 · rs114065856

Where this position leads

Condition: Fuchs's Corneal Dystrophy

rs114065856 Condition: Fuchs's Corneal Dystrophy Fuchs's Corneal Dystrophy Condition rs114065856 rs114065856 COL18A1

What the study found

Who was studied 3,655 European ancestry cases, 254,909 European ancestry controls.

The effect Each copy of the T allele carried 0.59 times the odds of Fuchs's corneal dystrophy (95% confidence interval 0.48985-0.69885); p = 3 × 10−9.

How common The T allele had a frequency of about 3% in the people studied.

Where it sits Chromosome 21, band 21q22.3 — in an intron of COL18A1.

What each result means

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

Questions about rs114065856

What is rs114065856?

rs114065856 is a single position in the genome, in or near the COL18A1 gene. Published research associates it with fuchs's corneal dystrophy. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs114065856 linked to?

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

Does having rs114065856 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 rs114065856 come from?

GWAS Catalog, Communications biology 2024, PMID:38582945. 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.

Fuchs's corneal dystrophy (rs114065856). MyGeneLog™. https://www.mygenelog.com/variants/rs114065856

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