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Nonsyndromic cleft palate

near IRF6 · rs570516915

What the study found

Who was studied 228 Finnish (founder/genetic isolate) cases, 308,799 Finnish (founder/genetic isolate) controls; replicated in 165 Finnish (founder/genetic isolate) cases, 199,935 Finnish (founder/genetic isolate) controls, 71 Estonian (founder/genetic isolate) cases, 198,973 Estonian (founder/genetic isolate) controls.

The effect Each copy of the G allele carried 9.14 times the odds of Nonsyndromic cleft palate (95% confidence interval 8.89-9.4); p = 4 × 10−64.

Where it sits Chromosome 1, band 1q32.2 — between genes, 9.9 kb from IRF6.

What each result means

G/G Two copies of the version the research linked to Nonsyndromic cleft palate. 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 Nonsyndromic cleft palate. That is a smaller link than two copies.
T/T No copy of the version the research linked to Nonsyndromic cleft palate. This is the starting point the study compared everyone against.
Source

Questions about rs570516915

What is rs570516915?

rs570516915 is a single position in the genome, in or near the near IRF6 gene. Published research associates it with nonsyndromic cleft palate. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs570516915 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 rs570516915 come from?

GWAS Catalog, Nature communications 2024, PMID:39500877. 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.

Nonsyndromic cleft palate (rs570516915). MyGeneLog™. https://www.mygenelog.com/variants/rs570516915

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