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Stands on its own.
Nothing else here links to this position yet — but the page above is the point: what the
research found, what each genotype means, and where it came from, in language you can
read. Links to conditions, drugs and the senses appear automatically if we write them.
What the study found
Who was studied 236 African American or Afro-Caribbean cases, 121,263 African American or Afro-Caribbean controls, 966 European ancestry cases, 448,908 European ancestry controls.
The effect
Each copy of the G allele shifted the measure 2.46 lower (95% confidence interval 2.42-2.51); p = 4 × 10−11.
How common The G allele had a frequency of about 100% in the people studied.
Where it sits Chromosome 10, band 10q23.1 — between genes, 8.5 kb from CCSER2.
What each result means
A/APublished research associates this genotype with typical/baseline likelihood of Lagophthalmos (PheCode 374.2) — no copies of the reported risk allele.
A/GPublished research associates this genotype (one copy of the reported risk allele) with an intermediate association with Lagophthalmos (PheCode 374.2).
G/GPublished research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Lagophthalmos (PheCode 374.2) compared to the general population.
Science (New York, N.Y.) · 2024 · PMID 39024449 · open access
Questions about rs184002647
What is rs184002647?
rs184002647 is a single position in the genome, in or near the near CCSER2 gene. Published research associates it with lagophthalmos (phecode 374.2). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
Does having rs184002647 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 rs184002647 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.
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