Other alveolar and parietoalveolar pneumonopathy (PheCode 504)
RORA · rs180788319
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What the study found
Who was studied 782 African American or Afro-Caribbean cases, 120,362 African American or Afro-Caribbean controls, 4,574 European ancestry cases, 443,188 European ancestry controls, 414 Hispanic or Latin American cases, 59,195 Hispanic or Latin American controls.
The effect
Each copy of the A allele shifted the measure 1.59 lower (95% confidence interval 1.52-1.67); p = 4 × 10−11.
How common The A allele had a frequency of about 100% in the people studied.
Where it sits Chromosome 15, band 15q22.2 — in an intron of RORA.
What each result means
A/APublished research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Other alveolar and parietoalveolar pneumonopathy (PheCode 504) compared to the general population.
A/GPublished research associates this genotype (one copy of the reported risk allele) with an intermediate association with Other alveolar and parietoalveolar pneumonopathy (PheCode 504).
G/GPublished research associates this genotype with typical/baseline likelihood of Other alveolar and parietoalveolar pneumonopathy (PheCode 504) — no copies of the reported risk allele.
Science (New York, N.Y.) · 2024 · PMID 39024449 · open access
Questions about rs180788319
What is rs180788319?
rs180788319 is a single position in the genome, in or near the RORA gene. Published research associates it with other alveolar and parietoalveolar pneumonopathy (phecode 504). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
Does having rs180788319 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 rs180788319 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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Other alveolar and parietoalveolar pneumonopathy (PheCode 504) (rs180788319). MyGeneLog™. https://www.mygenelog.com/variants/rs180788319