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Who was studied 231 African American or Afro-Caribbean cases, 121,513 African American or Afro-Caribbean controls, 715 European ancestry cases, 450,026 European ancestry controls.
The effect
Each copy of the G allele shifted the measure 3.16 lower (95% confidence interval 3.13-3.19); p = 3 × 10−11.
How common The G allele had a frequency of about 100% in the people studied.
Where it sits Chromosome 7, band 7q31.2 — in an intron of CFTR.
What each result means
A/ANo copy of the version the research linked to Infective connective tissue disorders (PheCode 712). This is the starting point the study compared everyone against.
A/GOne copy of the version the research linked to Infective connective tissue disorders (PheCode 712). That is a smaller link than two copies.
G/GTwo copies of the version the research linked to Infective connective tissue disorders (PheCode 712). 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 rs548335381
What is rs548335381?
rs548335381 is a single position in the genome, in or near the CFTR gene. Published research associates it with infective connective tissue disorders (phecode 712). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
Does rs548335381 affect how medicines work?
CFTR carries pharmacogenomic findings for Elexacaftor/tezacaftor/ivacaftor (Trikafta), Ivacaftor, Vanzacaftor/tezacaftor/deutivacaftor (Alyftrek). That is educational information, not a prescription or a dosing guide. Any decision to start, stop or change a medicine belongs with the clinician or pharmacist managing your treatment.
Does having rs548335381 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 rs548335381 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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