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Cleft palate

near BMP2 · rs2210119

Where this position leads

What the study found

Who was studied 873 European ancestry cases, 7,913 European ancestry controls.

The effect Each copy of the C allele carried 0.68 times the odds of Cleft palate (95% confidence interval 0.5978318894551984-0.7734615836926718); p = 4 × 10⁻⁹.

How common The C allele had a frequency of about 23% in the people studied.

Where it sits Chromosome 20, band 20p12.3 — in an intron of CASC20.

What each result means

C/C Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Cleft palate compared to the general population.

C/T Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Cleft palate.

T/T Published research associates this genotype with typical/baseline likelihood of Cleft palate — no copies of the reported risk allele.

Source

Genetic heterogeneity and homogeneity among orofacial cleft subtypes: genome-wide association studies in the cleft collective

Dack K, Ludwig KU, Stergiakouli E, Sandy J, Aryee S, Davey Smith G, Davies A, Wren Y, Sharp GC, Humphries K, Mangold E, Goudswaard L

and 3 more — show all

Ho K, Dudding T, Lewis SJ

Human molecular genetics · 2025 · PMID 41075272 · open access

Questions about rs2210119

What is rs2210119?

rs2210119 is a single position in the genome, in or near the near BMP2 gene. Published research associates it 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 rs2210119 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 rs2210119 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 rs2210119 come from?

GWAS Catalog, Human molecular genetics 2025, PMID:41075272. 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.

Cleft palate (rs2210119). MyGeneLog™. https://www.mygenelog.com/variants/rs2210119

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