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Its strongest genetic-study result is p = 10−11, 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 377 African American or Afro-Caribbean cases, 121,196 African American or Afro-Caribbean controls, 2,448 European ancestry cases, 446,920 European ancestry controls, 229 Hispanic or Latin American cases, 59,526 Hispanic or Latin American controls.
The effect
Each copy of the G allele shifted the measure 2.6 lower (95% confidence interval 2.56-2.64); p = 3 × 10−11.
How common The G allele had a frequency of about 100% in the people studied.
Where it sits Chromosome 14, band 14q31.1 — in the 3′ untranslated region of NRXN3.
What each result means
A/ANo copy of the version the research linked to Idiopathic fibrosing alveolitis (PheCode 504.1). This is the starting point the study compared everyone against.
A/GOne copy of the version the research linked to Idiopathic fibrosing alveolitis (PheCode 504.1). That is a smaller link than two copies.
G/GTwo copies of the version the research linked to Idiopathic fibrosing alveolitis (PheCode 504.1). That is the strongest link of the three results. A link in a study is not a diagnosis.
Science (New York, N.Y.) · 2024 · PMID 39024449 · open access
Questions about rs554880413
What is rs554880413?
rs554880413 is a single position in the genome, in or near the NRXN3 gene. Published research associates it with idiopathic fibrosing alveolitis (phecode 504.1). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
What conditions is rs554880413 linked to?
On MyGeneLog this position is linked to Idiopathic Pulmonary Fibrosis. The research behind each link, and its sources, are set out on that condition page.
Does having rs554880413 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 rs554880413 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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