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Anorectal malformation

TRPM2 · rs9974927

What the study found

Who was studied 568 European ancestry cases, 1,860 European ancestry controls.

The effect The reported allele is G; the catalogue records no effect size ; p = 6 × 10−17.

How common The G allele had a frequency of about 5% in the people studied.

Where it sits Chromosome 21, band 21q22.3 — a missense change in TRPM2.

What each result means

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

Questions about rs9974927

What is rs9974927?

rs9974927 is a single position in the genome, in or near the TRPM2 gene. Published research associates it with anorectal malformation. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs9974927 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 rs9974927 come from?

GWAS Catalog, PloS one 2019, PMID:31136621. 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.

Anorectal malformation (rs9974927). MyGeneLog™. https://www.mygenelog.com/variants/rs9974927

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