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Orofacial clefts

TSBP1 · rs28361060

Where this position leads

What the study found

Who was studied 2,268 European ancestry cases, 7,913 European ancestry controls.

The effect Each copy of the A allele carried 0.75 times the odds of Orofacial clefts (95% confidence interval 0.6801651651457853-0.8270050111717129); p = 8 × 10⁻⁹.

How common The A allele had a frequency of about 22% in the people studied.

Where it sits Chromosome 6, band 6p21.32 — in an intron of TSBP1.

What each result means

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

A/G Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Orofacial clefts.

G/G Published research associates this genotype with typical/baseline likelihood of Orofacial clefts — 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 rs28361060

What is rs28361060?

rs28361060 is a single position in the genome, in or near the TSBP1 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 rs28361060 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 rs28361060 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 rs28361060 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.

Orofacial clefts (rs28361060). MyGeneLog™. https://www.mygenelog.com/variants/rs28361060

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