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Glaucoma

EXOC2 · rs57111852

Where this position leads

Condition: Glaucoma

rs57111852 Condition: Glaucoma Glaucoma Condition rs57111852 rs57111852 EXOC2

What the study found

Who was studied 7,947 British ancestry cases, 119,318 British ancestry controls.

The effect Each copy of the A allele carried 1.15 times the odds of Glaucoma; p = 1 × 10−9.

How common The A allele had a frequency of about 14% in the people studied.

Where it sits Chromosome 6, band 6p25.3 — in an intron of EXOC2.

What each result means

A/A Two copies of the version the research linked to Glaucoma. 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 Glaucoma. That is a smaller link than two copies.
G/G No copy of the version the research linked to Glaucoma. This is the starting point the study compared everyone against.
Source
Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression
Craig JE, Han X, Qassim A, Hassall M, Cooke Bailey JN, Kinzy TG, Khawaja AP, An J, Marshall H, Gharahkhani P, Igo RP Jr, Graham SL
and 47 more — show all
Healey PR, Ong JS, Zhou T, Siggs O, Law MH, Souzeau E, Ridge B, Hysi PG, Burdon KP, Mills RA, Landers J, Ruddle JB, Agar A, Galanopoulos A, White AJR, Willoughby CE, Andrew NH, Best S, Vincent AL, Goldberg I, Radford-Smith G, Martin NG, Montgomery GW, Vitart V, Hoehn R, Wojciechowski R, Jonas JB, Aung T, Pasquale LR, Cree AJ, Sivaprasad S, Vallabh NA, Viswanathan AC, Pasutto F, Haines JL, Klaver CCW, van Duijn CM, Casson RJ, Foster PJ, Khaw PT, Hammond CJ, Mackey DA, Mitchell P, Lotery AJ, Wiggs JL, Hewitt AW, MacGregor S
NEIGHBORHOOD consortium · UK Biobank Eye and Vision Consortium
Nature genetics · 2020 · PMID 31959993

Questions about rs57111852

What is rs57111852?

rs57111852 is a single position in the genome, in or near the EXOC2 gene. Published research associates it with glaucoma. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs57111852 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 rs57111852 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 rs57111852 come from?

GWAS Catalog, Nat Genet 2020, PMID:31959993. 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.

Glaucoma (rs57111852). MyGeneLog™. https://www.mygenelog.com/variants/rs57111852

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