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Intraocular pressure

EXOSC10 · rs534975221

Where this position leads

Condition: Glaucoma

rs534975221 Condition: Glaucoma Glaucoma Condition rs534975221 rs534975221 EXOSC10

What the study found

Who was studied 115,486 European ancestry individuals.

The effect Each copy of the G allele shifted the measure 0.754 higher (95% confidence interval 0.6-0.91); p = 2 × 10−21.

How common The G allele had a frequency of about 99% in the people studied.

Where it sits Chromosome 1, band 1p36.22 — in an intron of EXOSC10.

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 association analyses identify new loci influencing intraocular pressure
Gao XR, Huang H, Nannini DR, Fan F, Kim H
Human molecular genetics · 2018 · PMID 29617998

Questions about rs534975221

What is rs534975221?

rs534975221 is a single position in the genome, in or near the EXOSC10 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 rs534975221 linked to?

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

Does having rs534975221 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 rs534975221 come from?

GWAS Catalog, Hum Mol Genet 2018, PMID:29617998. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

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