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Exophthalmos (PheCode 242.3)

ZNF295-AS1 · rs181586684

What the study found

Who was studied 612 African American or Afro-Caribbean cases, 120,665 African American or Afro-Caribbean controls, 710 European ancestry cases, 449,706 European ancestry controls.

The effect Each copy of the C allele shifted the measure 2.75 lower (95% confidence interval 2.72-2.78); p = 1 × 10−12.

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

Where it sits Chromosome 21, band 21q22.3 — in an intron of ZNF295-AS1.

What each result means

C/C Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Exophthalmos (PheCode 242.3) compared to the general population.
C/T Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Exophthalmos (PheCode 242.3).
T/T Published research associates this genotype with typical/baseline likelihood of Exophthalmos (PheCode 242.3) — no copies of the reported risk allele.
Source

Questions about rs181586684

What is rs181586684?

rs181586684 is a single position in the genome, in or near the ZNF295-AS1 gene. Published research associates it with exophthalmos (phecode 242.3). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs181586684 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 rs181586684 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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Exophthalmos (PheCode 242.3) (rs181586684). MyGeneLog™. https://www.mygenelog.com/variants/rs181586684

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