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Intraocular pressure

ARHGEF12 · rs80040504

Where this position leads

Condition: Intraocular Pressure

rs80040504 Condition: Intraocular Pressure Intraocular Pressure Condition rs80040504 rs80040504 ARHGEF12

What the study found

Who was studied 101,939 European ancestry cases.

The effect Each copy of the A allele shifted the measure 0.29 higher (95% confidence interval 0.23-0.35); p = 5 × 10−17.

Where it sits Chromosome 11, band 11q23.3 — in an intron of ARHGEF12.

What each result means

A/A Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Intraocular pressure compared to the general population.
A/G Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Intraocular pressure.
G/G Published research associates this genotype with typical/baseline likelihood of Intraocular pressure — no copies of the reported risk allele.
Source
Association of Myopia and Intraocular Pressure With Retinal Detachment in European Descent Participants of the UK Biobank Cohort: A Mendelian Randomization Study
Han X, Ong JS, An J, Craig JE, Gharahkhani P, Hewitt AW, MacGregor S
JAMA ophthalmology · 2020 · PMID 32352494

Questions about rs80040504

What is rs80040504?

rs80040504 is a single position in the genome, in or near the ARHGEF12 gene. Published research associates it with intraocular pressure. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs80040504 linked to?

On MyGeneLog this position is linked to Intraocular Pressure. The research behind each link, and its sources, are set out on that condition page.

Does having rs80040504 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 rs80040504 come from?

GWAS Catalog, JAMA ophthalmology 2020, PMID:32352494. 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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Intraocular pressure (rs80040504). MyGeneLog™. https://www.mygenelog.com/variants/rs80040504

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