Sensitive

Lung disease severity in cystic fibrosis

APIP · rs546131

Where this position leads

Condition: Cystic Fibrosis

rs546131 Condition: Cystic Fibrosis Cystic Fibrosis Condition rs546131 rs546131 APIP

What the study found

Who was studied 4,139 European and other ancestry p.Phe508del homozygote cases, 2,226 European and other ancestry cases.

The effect Each copy of the G allele shifted the measure 0.09 lower; p = 3 × 10−9.

How common The G allele had a frequency of about 36% in the people studied.

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

What each result means

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

Questions about rs546131

What is rs546131?

rs546131 is a single position in the genome, in or near the APIP gene. Published research associates it with lung disease severity in cystic fibrosis. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs546131 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 rs546131 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 rs546131 come from?

GWAS Catalog, Nat Commun 2015, PMID:26417704. 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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Lung disease severity in cystic fibrosis (rs546131). MyGeneLog™. https://www.mygenelog.com/variants/rs546131

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