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Regional enteritis (PheCode 555.1)

near MTHFD2P1 · rs540193863

Where this position leads

Condition: Crohn's Disease

rs540193863 Condition: Crohn's Disease Crohn's Disease Condition rs540193863 rs540193863 near MTHFD2P1

What the study found

Who was studied 567 African American or Afro-Caribbean cases, 121,083 African American or Afro-Caribbean controls, 3,402 European ancestry cases, 446,631 European ancestry controls, 236 Hispanic or Latin American cases, 59,514 Hispanic or Latin American controls.

The effect Each copy of the C allele shifted the measure 2.91 lower (95% confidence interval 2.88-2.94); p = 1 × 10−11.

How common The C allele had a frequency of about 100% in the people studied.

Where it sits Chromosome 3, band 3q11.2 — between genes, 21.2 kb from MTHFD2P1.

What each result means

C/C Two copies of the version the research linked to Regional enteritis (PheCode 555.1). 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 Regional enteritis (PheCode 555.1). That is a smaller link than two copies.
T/T No copy of the version the research linked to Regional enteritis (PheCode 555.1). This is the starting point the study compared everyone against.
Source

Questions about rs540193863

What is rs540193863?

rs540193863 is a single position in the genome, in or near the near MTHFD2P1 gene. Published research associates it with regional enteritis (phecode 555.1). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs540193863 linked to?

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

Does having rs540193863 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 rs540193863 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

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.

Regional enteritis (PheCode 555.1) (rs540193863). MyGeneLog™. https://www.mygenelog.com/variants/rs540193863

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