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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 453 African American or Afro-Caribbean cases, 120,388 African American or Afro-Caribbean controls, 1,218 European ancestry cases, 446,858 European ancestry controls.
The effect
Each copy of the C allele shifted the measure 3.37 lower (95% confidence interval 3.35-3.39); p = 4 × 10−11.
How common The C allele had a frequency of about 100% in the people studied.
Where it sits Chromosome 5, band 5p15.1 — between genes, 16.4 kb from BASP1.
What each result means
C/CPublished research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Congenital anomalies of the eye (PheCode 753) compared to the general population.
C/TPublished research associates this genotype (one copy of the reported risk allele) with an intermediate association with Congenital anomalies of the eye (PheCode 753).
T/TPublished research associates this genotype with typical/baseline likelihood of Congenital anomalies of the eye (PheCode 753) — no copies of the reported risk allele.
Science (New York, N.Y.) · 2024 · PMID 39024449 · open access
Questions about rs184433765
What is rs184433765?
rs184433765 is a single position in the genome, in or near the near BASP1 gene. Published research associates it with congenital anomalies of the eye (phecode 753). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
Does having rs184433765 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 rs184433765 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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Congenital anomalies of the eye (PheCode 753) (rs184433765). MyGeneLog™. https://www.mygenelog.com/variants/rs184433765