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Who was studied 3,145 European ancestry cases, 3,955 European ancestry controls, 352 African American cases, 1,749 African American controls; replicated in 2,651 cases and their relatives.
The effect
Each copy of the C allele carried 1.36 times the odds of Chronic obstructive pulmonary disease (severe) (95% confidence interval 1.26-1.47); p = 9 × 10−15.
How common The C allele had a frequency of about 42% in the people studied.
Where it sits Chromosome 4, band 4q22.1 — in an intron of FAM13A.
What each result means
C/CTwo copies of the version the research linked to Chronic obstructive pulmonary disease (severe). That is the strongest link of the three results. A link in a study is not a diagnosis.
C/TOne copy of the version the research linked to Chronic obstructive pulmonary disease (severe). That is a smaller link than two copies.
T/TNo copy of the version the research linked to Chronic obstructive pulmonary disease (severe). This is the starting point the study compared everyone against.
The Lancet. Respiratory medicine · 2014 · PMID 24621683
Questions about rs4416442
What is rs4416442?
rs4416442 is a single position in the genome, in or near the FAM13A gene. Published research associates it with chronic obstructive pulmonary disease (severe). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
What conditions is rs4416442 linked to?
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.
Does having rs4416442 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 rs4416442 come from?
GWAS Catalog, Lancet Respir Med 2014, PMID:24621683. 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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