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Cystic fibrosis severity

APIP · rs12793173

Where this position leads

Condition: Cystic Fibrosis

rs12793173 Condition: Cystic Fibrosis Cystic Fibrosis Condition rs12793173 rs12793173 APIP

What the study found

Who was studied 2,317 European ancestry cases, 177 cases; replicated in 898 European ancestry sibling pair cases, 75 sibling pair cases.

The effect The reported allele is C; the catalogue records no effect size ; p = 1 × 10−9.

How common The C allele had a frequency of about 24% in the people studied.

Where it sits Chromosome 11, band 11p13 — in an intron of LOC102723568.

What each result means

C/C Two copies of the version the research linked to Cystic fibrosis severity. That is the strongest link of the three results. A link in a study is not a diagnosis.
C/T One copy of the version the research linked to Cystic fibrosis severity. That is a smaller link than two copies.
T/T No copy of the version the research linked to Cystic fibrosis severity. This is the starting point the study compared everyone against.
Source

Questions about rs12793173

What is rs12793173?

rs12793173 is a single position in the genome, in or near the APIP gene. Published research associates it with cystic fibrosis severity. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs12793173 linked to?

On MyGeneLog this position is linked to Cystic Fibrosis. The research behind each link, and its sources, are set out on that condition page.

Does having rs12793173 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 rs12793173 come from?

GWAS Catalog, Nat Genet 2011, PMID:21602797. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

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Cystic fibrosis severity (rs12793173). MyGeneLog™. https://www.mygenelog.com/variants/rs12793173

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