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Corneal resistance factor (MTAG)

near COL5A1 · rs943423

What the study found

Who was studied 123,734 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.0558 higher (95% confidence interval 0.048-0.064); p = 2 × 10−39.

How common The A allele had a frequency of about 70% in the people studied.

Where it sits Chromosome 9, band 9q34.3 — between genes, 96.5 kb from COL5A1.

What each result means

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

Questions about rs943423

What is rs943423?

rs943423 is a single position in the genome, in or near the near COL5A1 gene. Published research associates it with corneal resistance factor (mtag). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs943423 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 rs943423 come from?

GWAS Catalog, JAMA ophthalmology 2022, PMID:35446358. 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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Corneal resistance factor (MTAG) (rs943423). MyGeneLog™. https://www.mygenelog.com/variants/rs943423

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