Standard

Keratoconus

COL5A1 · rs3118518

Where this position leads

Condition: Keratoconus

rs3118518 Condition: Keratoconus Keratoconus Condition rs3118518 rs3118518 COL5A1

What the study found

Who was studied 2,116 European ancestry cases, 24,626 European ancestry controls; replicated in 1, 389 European ancestry cases, 79,727 European ancestry controls, 759 South Asian ancestry cases, 8,009 South Asian ancestry controls, 405 African ancestry cases, 4,185 African ancestry controls.

The effect Each copy of the A allele shifted the measure 0.27 higher (95% confidence interval 0.22-0.32); p = 2 × 10−28.

Where it sits Chromosome 9, band 9q34.3 — between genes, 3 kb from LOC100506532.

What each result means

A/A 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.
A/G One copy of the version the research linked to Keratoconus. That is a smaller link than two copies.
G/G No copy of the version the research linked to Keratoconus. This is the starting point the study compared everyone against.
Source

Questions about rs3118518

What is rs3118518?

rs3118518 is a single position in the genome, in or near the COL5A1 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 rs3118518 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 rs3118518 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 rs3118518 come from?

GWAS Catalog, Commun Biol 2021, PMID:33649486. 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 (rs3118518). MyGeneLog™. https://www.mygenelog.com/variants/rs3118518

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