Standard

Hypotony of eye (PheCode 360.3)

PKIB · rs186699539

What the study found

Who was studied 213 African American or Afro-Caribbean cases, 121,499 African American or Afro-Caribbean controls, 289 European ancestry cases, 450,826 European ancestry controls.

The effect Each copy of the A allele shifted the measure 3.02 lower (95% confidence interval 2.99-3.05); p = 4 × 10−11.

How common The A allele had a frequency of about 100% in the people studied.

Where it sits Chromosome 6, band 6q22.31 — in an intron of PKIB.

What each result means

A/A Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Hypotony of eye (PheCode 360.3) compared to the general population.
A/G Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Hypotony of eye (PheCode 360.3).
G/G Published research associates this genotype with typical/baseline likelihood of Hypotony of eye (PheCode 360.3) — no copies of the reported risk allele.
Source

Questions about rs186699539

What is rs186699539?

rs186699539 is a single position in the genome, in or near the PKIB gene. Published research associates it with hypotony of eye (phecode 360.3). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs186699539 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 rs186699539 come from?

GWAS Catalog, Science (New York, N.Y.) 2024, PMID:39024449. 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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Hypotony of eye (PheCode 360.3) (rs186699539). MyGeneLog™. https://www.mygenelog.com/variants/rs186699539

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