CCDC91 · rs11049488
Where this position leads
Condition: Chronic Obstructive Pulmonary Disease (COPD)
Strength of the evidence
Its strongest genetic-study result is p = 10−7, with 1 associations in the GWAS Catalog.
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 up to 31,465 European ancestry cases, up to 203,688 European ancestry controls, up to 1,413 African ancestry cases, up to 6,080 African ancestry controls, up to 287 East Asian ancestry cases, up to 7,484 East Asian ancestry controls, up to 61 Hispanic cases, up to 613 Hispanic controls.
The effect Each copy of the G allele carried 1.06 times the odds of Chronic obstructive pulmonary disease (95% confidence interval 1.04 -1.08); p = 5 × 10−8.
How common The G allele had a frequency of about 70% in the people studied.
Where it sits Chromosome 12, band 12p11.22 — a missense change in CCDC91.
rs11049488 is a single position in the genome, in or near the CCDC91 gene. Published research associates it with chronic obstructive pulmonary disease. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
On MyGeneLog this position is linked to Chronic Obstructive Pulmonary Disease (COPD). The research behind each link, and its sources, are set out on that condition page.
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.
GWAS Catalog, American journal of physiology. Lung cellular and molecular physiology 2021, PMID:33909500. 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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Chronic obstructive pulmonary disease (rs11049488). MyGeneLog™. https://www.mygenelog.com/variants/rs11049488