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Cataracts

SLC24A3 · rs4814857

Where this position leads

What the study found

Who was studied 28,092 non-Hispanic White ancestry cases, 50,487 non-Hispanic White ancestry controls, 2,233 East Asian ancestry cases, 7,023 East Asian ancestry controls, 2,149 Hispanic/Latino cases, 6,620 Hispanic/Latino controls, 815 African American cases, 2,368 African American controls, 31,852 European ancestry cases, 428,084 European ancestry controls, 757 African ancestry cases, 7,897 African ancestry controls, 1,278 South Asian ancestry cases, 8,571 South Asian ancestry controls, 668 other admixed cases, 7,349 other admixed controls; replicated in 313,278 European ancestry cases, 2,210,509 European ancestry controls, 7,715 African American cases, 120,390 African American controls, 3,934 East Asian ancestry cases, 104,766 East Asian ancestry controls, 21,408 Latino cases, 425,544 Latino controls, 874 South Asian ancestry cases, 26,037 South Asian ancestry controls.

The effect Each copy of the G allele carried 1.09 times the odds of Cataracts (95% confidence interval 1.08-1.1); p = 2 × 10⁻⁷⁰.

Where it sits Chromosome 20, band 20p11.23 — in an intron of SLC24A3.

What each result means

A/A Published research associates this genotype with typical/baseline likelihood of Cataracts — 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 Cataracts.

G/G Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Cataracts compared to the general population.

Source

A large multiethnic GWAS meta-analysis of cataract identifies new risk loci and sex-specific effects

Choquet H, Melles RB, Anand D, Yin J, Cuellar-Partida G, Wang W, Hoffmann TJ, Nair KS, Hysi PG, Lachke SA, Jorgenson E

23andMe Research Team

Nature communications · 2021 · PMID 34127677 · open access

Questions about rs4814857

What is rs4814857?

rs4814857 is a single position in the genome, in or near the SLC24A3 gene. Published research associates it with cataracts. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs4814857 linked to?

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

Does having rs4814857 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 rs4814857 come from?

GWAS Catalog, Nature communications 2021, PMID:34127677. 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.

Cataracts (rs4814857). MyGeneLog™. https://www.mygenelog.com/variants/rs4814857

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