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Who was studied 367 African American or Afro-Caribbean cases, 121,509 African American or Afro-Caribbean controls, 573 European ancestry cases, 450,622 European ancestry controls.
The effect
Each copy of the A allele shifted the measure 3.6 lower (95% confidence interval 3.59-3.62); p = 1 × 10−11.
How common The A allele had a frequency of about 100% in the people studied.
Where it sits Chromosome 15, band 15q11.2 — in an intron of PWRN1.
What each result means
A/ATwo copies of the version the research linked to Keratoconus (PheCode 364.41). That is the strongest link of the three results. A link in a study is not a diagnosis.
A/TOne copy of the version the research linked to Keratoconus (PheCode 364.41). That is a smaller link than two copies.
T/TNo copy of the version the research linked to Keratoconus (PheCode 364.41). This is the starting point the study compared everyone against.
Science (New York, N.Y.) · 2024 · PMID 39024449 · open access
Questions about rs549382303
What is rs549382303?
rs549382303 is a single position in the genome, in or near the PWRN1 gene. Published research associates it with keratoconus (phecode 364.41). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
What conditions is rs549382303 linked to?
On MyGeneLog this position is linked to Keratoconus. The research behind each link, and its sources, are set out on that condition page.
Does having rs549382303 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 rs549382303 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.
0 523Reads by AI crawlersClaude0ChatGPT0Google · Gemini0Perplexity0Meta AI0Microsoft · Copilot0Amazon2Apple0China (ByteDance, Huawei, Baidu…)0Others3Total5Counted by the name each crawler declares; requests found to be impersonating one are left out. Google · Gemini includes Googlebot, the search crawler whose index Google also uses for its AI features. Other search engines and bots are under Others.
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