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Intraocular pressure

ARHGEF12 · rs11217863

Where this position leads

Condition: Intraocular Pressure

rs11217863 Condition: Intraocular Pressure Intraocular Pressure Condition rs11217863 rs11217863 ARHGEF12

What the study found

Who was studied 139,555 European ancestry individuals.

The effect Each copy of the G allele shifted the measure 0.224 lower (95% confidence interval 0.18-0.26); p = 3 × 10−29.

How common The G allele had a frequency of about 88% in the people studied.

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

What each result means

A/A Published research associates this genotype with typical/baseline likelihood of Intraocular pressure — no copies of the reported risk allele.
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 (two copies of the reported risk allele) with a higher likelihood of Intraocular pressure compared to the general population.
Source
Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma
Khawaja AP, Cooke Bailey JN, Wareham NJ, Scott RA, Simcoe M, Igo RP Jr, Song YE, Wojciechowski R, Cheng CY, Khaw PT, Pasquale LR, Haines JL
and 4 more — show all
Foster PJ, Wiggs JL, Hammond CJ, Hysi PG
UK Biobank Eye and Vision Consortium · NEIGHBORHOOD Consortium
Nature genetics · 2018 · PMID 29785010 · open access

Questions about rs11217863

What is rs11217863?

rs11217863 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 rs11217863 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 rs11217863 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 rs11217863 come from?

GWAS Catalog, Nature genetics 2018, PMID:29785010. 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.

Intraocular pressure (rs11217863). MyGeneLog™. https://www.mygenelog.com/variants/rs11217863

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