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Open-angle glaucoma and vertical cup-disc ratio

MYOF · rs72815193

Where this position leads

Condition: Glaucoma

rs72815193 Condition: Glaucoma Glaucoma Condition rs72815193 rs72815193 MYOF

What the study found

Who was studied 3,071 European ancestry open-angle glaucoma cases, 6,750 European ancestry controls, 23,899 European ancestry individuals with vertical cup to disc ratio data, 8,373 Asian ancestry individuals with vertical cup to disc ratio data.

The effect The reported allele is G; the catalogue records no effect size ; p = 6 × 10−10.

Where it sits Chromosome 10, band 10q23.33 — between genes, 3 kb from XRCC6P1.

What each result means

A/A Published research associates this genotype with typical/baseline likelihood of Open-angle glaucoma and vertical cup-disc ratio — 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 Open-angle glaucoma and vertical cup-disc ratio.
G/G Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Open-angle glaucoma and vertical cup-disc ratio compared to the general population.
Source
Analysis combining correlated glaucoma traits identifies five new risk loci for open-angle glaucoma
Gharahkhani P, Burdon KP, Cooke Bailey JN, Hewitt AW, Law MH, Pasquale LR, Kang JH, Haines JL, Souzeau E, Zhou T, Siggs OM, Landers J
and 27 more — show all
Awadalla M, Sharma S, Mills RA, Ridge B, Lynn D, Casson R, Graham SL, Goldberg I, White A, Healey PR, Grigg J, Lawlor M, Mitchell P, Ruddle J, Coote M, Walland M, Best S, Vincent A, Gale J, RadfordSmith G, Whiteman DC, Montgomery GW, Martin NG, Mackey DA, Wiggs JL, MacGregor S, Craig JE
NEIGHBORHOOD consortium
Scientific reports · 2018 · PMID 29449654 · open access

Questions about rs72815193

What is rs72815193?

rs72815193 is a single position in the genome, in or near the MYOF gene. Published research associates it with open-angle glaucoma and vertical cup-disc ratio. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs72815193 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 rs72815193 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 rs72815193 come from?

GWAS Catalog, Sci Rep 2018, PMID:29449654. 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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Open-angle glaucoma and vertical cup-disc ratio (rs72815193). MyGeneLog™. https://www.mygenelog.com/variants/rs72815193

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