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Postinflammatory pulmonary fibrosis (PheCode 502)

KANSL1 · rs2532254

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−13, with 2 associations in the GWAS Catalog.

How this is scored

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 1,003 African American or Afro-Caribbean cases, 119,514 African American or Afro-Caribbean controls, 5,815 European ancestry cases, 438,251 European ancestry controls, 510 Hispanic or Latin American cases, 58,927 Hispanic or Latin American controls.

The effect Each copy of the G allele shifted the measure 0.183 higher (95% confidence interval 0.13-0.24); p = 1 × 10−13.

How common The G allele had a frequency of about 83% in the people studied.

Where it sits Chromosome 17, band 17q21.31 — in an intron of KANSL1.

What each result means

A/A No copy of the version the research linked to Postinflammatory pulmonary fibrosis (PheCode 502). This is the starting point the study compared everyone against.
A/G One copy of the version the research linked to Postinflammatory pulmonary fibrosis (PheCode 502). That is a smaller link than two copies.
G/G Two copies of the version the research linked to Postinflammatory pulmonary fibrosis (PheCode 502). That is the strongest link of the three results. A link in a study is not a diagnosis.
Source

Questions about rs2532254

What is rs2532254?

rs2532254 is a single position in the genome, in or near the KANSL1 gene. Published research associates it with postinflammatory pulmonary fibrosis (phecode 502). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs2532254 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 rs2532254 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.

Quoting this page

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Postinflammatory pulmonary fibrosis (PheCode 502) (rs2532254). MyGeneLog™. https://www.mygenelog.com/variants/rs2532254

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