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Photoreceptor cell layer thickness phenotypes (MTAG)

AFAP1L1 · rs1438692

What the study found

Who was studied 31,135 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.07 higher (95% confidence interval 0.05-0.09); p = 1 × 10−11.

How common The A allele had a frequency of about 42% in the people studied.

Where it sits Chromosome 5, band 5q32 — in an intron of AFAP1L1.

What each result means

A/A Two copies of the version the research linked to Photoreceptor cell layer thickness phenotypes (MTAG). 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 Photoreceptor cell layer thickness phenotypes (MTAG). That is a smaller link than two copies.
G/G No copy of the version the research linked to Photoreceptor cell layer thickness phenotypes (MTAG). This is the starting point the study compared everyone against.
Source

Questions about rs1438692

What is rs1438692?

rs1438692 is a single position in the genome, in or near the AFAP1L1 gene. Published research associates it with photoreceptor cell layer thickness phenotypes (mtag). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs1438692 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 rs1438692 come from?

GWAS Catalog, PLoS genetics 2023, PMID:36848389. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

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Photoreceptor cell layer thickness phenotypes (MTAG) (rs1438692). MyGeneLog™. https://www.mygenelog.com/variants/rs1438692

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