Sensitive

Erdheim-Chester disease

near SETBP1 · rs188050966

Where this position leads

Condition: Erdheim-Chester Disease

rs188050966 Condition: Erdheim-Chester Disease Erdheim-Chester Disease Condition rs188050966 rs188050966 near SETBP1

What the study found

Who was studied 255 European ancestry cases, 7,471 European ancestry controls.

The effect Each copy of the A allele carried 2.09 times the odds of Erdheim-Chester disease (95% confidence interval 1.68-2.6); p = 3 × 10−11.

Where it sits Chromosome 18, band 18q12.3 — in an intron of LINC01478.

What each result means

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

Questions about rs188050966

What is rs188050966?

rs188050966 is a single position in the genome, in or near the near SETBP1 gene. Published research associates it with erdheim-chester disease. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs188050966 linked to?

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

Does having rs188050966 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 rs188050966 come from?

GWAS Catalog, Arthritis & rheumatology (Hoboken, N.J.) 2024, PMID:37561109. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

Free to quote and reuse under CC BY 4.0. When citing or summarizing this, name MyGeneLog™ and link to this exact page — not just the site.

Erdheim-Chester disease (rs188050966). MyGeneLog™. https://www.mygenelog.com/variants/rs188050966

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