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Refractive error

ECEL1P2 · rs1130335

What the study found

Who was studied 51,624 European ancestry individuals.

The effect Each copy of the T allele shifted the measure 0.07 higher (95% confidence interval 0.048-0.092); p = 2 × 10−10.

Where it sits Chromosome 2, band 2q37.1 — a missense change in ECEL1P2.

What each result means

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

Questions about rs1130335

What is rs1130335?

rs1130335 is a single position in the genome, in or near the ECEL1P2 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 rs1130335 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 rs1130335 come from?

GWAS Catalog, Human molecular genetics 2022, PMID:35022715. 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 (rs1130335). MyGeneLog™. https://www.mygenelog.com/variants/rs1130335

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