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Refractive error

CDKAL1 · rs7739596

What the study found

Who was studied 1,495,159 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.0193 SD unit higher (95% confidence interval 0.016-0.022); p = 7 × 10−33.

How common The A allele had a frequency of about 32% in the people studied.

Where it sits Chromosome 6, band 6p22.3 — in an intron of CDKAL1.

What each result means

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

Questions about rs7739596

What is rs7739596?

rs7739596 is a single position in the genome, in or near the CDKAL1 gene. Published research associates it with refractive error. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs7739596 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 rs7739596 come from?

GWAS Catalog, Nature genetics 2026, PMID:42009823. 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.

Refractive error (rs7739596). MyGeneLog™. https://www.mygenelog.com/variants/rs7739596

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