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Who was studied 2,033 Han Chinese ancestry cases, 4,051 Han Chinese ancestry controls; replicated in 1,346 Han Chinese ancestry cases, 4,542 Han Chinese ancestry controls.
The effect
Each copy of the G allele carried 1.20 times the odds of Nonsyndromic cleft lip with cleft palate; p = 2 × 10−10.
How common The G allele had a frequency of about 52% in the people studied.
Where it sits Chromosome 12, band 12q24.13 — in an intron of PTPN11.
What each result means
A/ANo copy of the version the research linked to Nonsyndromic cleft lip with cleft palate. This is the starting point the study compared everyone against.
A/GOne copy of the version the research linked to Nonsyndromic cleft lip with cleft palate. That is a smaller link than two copies.
G/GTwo copies of the version the research linked to Nonsyndromic cleft lip with cleft palate. That is the strongest link of the three results. A link in a study is not a diagnosis.
Nature communications · 2017 · PMID 28232668 · open access
Questions about rs12229892
What is rs12229892?
rs12229892 is a single position in the genome, in or near the PTPN11 gene. Published research associates it with nonsyndromic cleft lip with cleft palate. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
What conditions is rs12229892 linked to?
On MyGeneLog this position is linked to Cleft Lip with Cleft Palate. The research behind each link, and its sources, are set out on that condition page.
Does having rs12229892 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 rs12229892 come from?
GWAS Catalog, Nature communications 2017, PMID:28232668. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.
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Nonsyndromic cleft lip with cleft palate (rs12229892). MyGeneLog™. https://www.mygenelog.com/variants/rs12229892