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Cleft lip with or without cleft palate

near MAFB · rs34753522

Where this position leads

What the study found

Who was studied 1,367 European ancestry cases, 7,913 European ancestry controls.

The effect Each copy of the C allele carried 0.76 times the odds of Cleft lip with or without cleft palate (95% confidence interval 0.6965471923635871-0.8292331177734494); p = 7 × 10⁻¹⁰.

How common The C allele had a frequency of about 36% in the people studied.

Where it sits Chromosome 20, band 20q12 — between genes, 36.1 kb from MAFB.

What each result means

C/C Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Cleft lip with or without 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 lip with or without cleft palate.

T/T Published research associates this genotype with typical/baseline likelihood of Cleft lip with or without 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 rs34753522

What is rs34753522?

rs34753522 is a single position in the genome, in or near the near MAFB gene. Published research associates it with cleft lip with or without 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 rs34753522 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 rs34753522 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 rs34753522 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 lip with or without cleft palate (rs34753522). MyGeneLog™. https://www.mygenelog.com/variants/rs34753522

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