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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.
Strength of the evidence
1 / 4
Its strongest genetic-study result is p = 10−13, with 1 associations in the GWAS Catalog.
How this is scored
4: ClinVar disease-causing, reviewed by an expert panel or a guideline (3–4 stars). 3: ClinVar, several labs agreeing (2 stars), or a genetic study at p ≤ 10−50. 2: ClinVar from one lab (1 star), or p ≤ 10−20. 1: ClinVar submitted without criteria (0 stars), or genome-wide significance (p ≤ 5×10−8). The higher of the two counts. It says how solid the evidence is, not whether it matters for a particular person.
What the study found
Who was studied 256 African American or Afro-Caribbean cases, 121,143 African American or Afro-Caribbean controls, 899 European ancestry cases, 448,779 European ancestry controls.
The effect
Each copy of the A allele shifted the measure 3.83 lower (95% confidence interval 3.82-3.85); p = 8 × 10−14.
How common The A allele had a frequency of about 100% in the people studied.
Where it sits Chromosome 8, band 8p23.1 — inside RP1L1.
What each result means
A/ATwo copies of the version the research linked to Congenital anomalies of the integument (PheCode 757). That is the strongest link of the three results. A link in a study is not a diagnosis.
A/COne copy of the version the research linked to Congenital anomalies of the integument (PheCode 757). That is a smaller link than two copies.
C/CNo copy of the version the research linked to Congenital anomalies of the integument (PheCode 757). This is the starting point the study compared everyone against.
Science (New York, N.Y.) · 2024 · PMID 39024449 · open access
Questions about rs189259880
What is rs189259880?
rs189259880 is a single position in the genome, in or near the RP1L1 gene. Published research associates it with congenital anomalies of the integument (phecode 757). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
Does having rs189259880 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 rs189259880 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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Quoting this page
Licensed CC BY-NC 4.0: free to read, share and adapt for non-commercial use, naming MyGeneLog™ and linking the exact page. Commercial use, including training or serving a commercial AI system, needs a licence — https://www.mygenelog.com/license
Congenital anomalies of the integument (PheCode 757) (rs189259880). MyGeneLog™. https://www.mygenelog.com/variants/rs189259880