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Orofacial clefts

near DCAF4L2 · rs12543318

Where this position leads

Condition: Cleft Lip and Palate

rs12543318 Condition: Cleft Lip and Palate Cleft Lip and Palate Condition rs12543318 rs12543318 near DCAF4L2

What the study found

Who was studied Up to 666 European ancestry trios, 399 European ancestry cases, 1,318 European ancestry controls; replicated in up to 795 East Asian ancestry trios.

The effect Each copy of the C allele carried 1.27 times the odds of Orofacial clefts (95% confidence interval 1.106-1.463); p = 2 × 10−8.

Where it sits Chromosome 8, band 8q21.3 — between genes, 11.5 kb from LOC100419762.

What each result means

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

Questions about rs12543318

What is rs12543318?

rs12543318 is a single position in the genome, in or near the near DCAF4L2 gene. Published research associates it with orofacial clefts. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs12543318 linked to?

On MyGeneLog this position is linked to Cleft Lip and Palate. The research behind each link, and its sources, are set out on that condition page.

Does having rs12543318 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 rs12543318 come from?

GWAS Catalog, Nat Genet 2012, PMID:22863734. 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.

Orofacial clefts (rs12543318). MyGeneLog™. https://www.mygenelog.com/variants/rs12543318

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