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Orofacial clefts

GSDMC · rs987525

Where this position leads

Condition: Cleft Lip and Palate

rs987525 Condition: Cleft Lip and Palate Cleft Lip and Palate Condition rs987525 rs987525 GSDMC

What the study found

Who was studied 224 European ancestry cases, 383 European ancestry controls; replicated in 246 cases, 954 controls.

The effect Each copy of the A allele carried 2.57 times the odds of Orofacial clefts (95% confidence interval 2.02-3.26); p = 3 × 10−24.

How common The A allele had a frequency of about 20% in the people studied.

Where it sits Chromosome 8, band 8q24.21 — in an intron of CCDC26.

What each result means

A/A 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.
A/C One copy of the version the research linked to Orofacial clefts. That is a smaller link than two copies.
C/C No copy of the version the research linked to Orofacial clefts. This is the starting point the study compared everyone against.
Source

Questions about rs987525

What is rs987525?

rs987525 is a single position in the genome, in or near the GSDMC 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 rs987525 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 rs987525 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 rs987525 come from?

GWAS Catalog, Nat Genet 2009, PMID:19270707. 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 (rs987525). MyGeneLog™. https://www.mygenelog.com/variants/rs987525

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