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Craniofacial microsomia

CCND1 · rs11263613

What the study found

Who was studied 330 Chinese ancestry left-side-affected cases, 609 Chinese ancestry right-side-affected cases, 2,012 Chinese ancestry controls; replicated in 151 Chinese ancestry left-side-affected cases, 292 Chinese ancestry right-side-affected cases, 1,669 Chinese ancestry controls.

The effect Each copy of the G allele carried 1.68 times the odds of Craniofacial microsomia (95% confidence interval 1.49-1.89); p = 4 × 10−17.

How common The G allele had a frequency of about 12% in the people studied.

Where it sits Chromosome 11, band 11q13.3 — between genes, 27.1 kb from FGF3.

What each result means

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

Questions about rs11263613

What is rs11263613?

rs11263613 is a single position in the genome, in or near the CCND1 gene. Published research associates it with craniofacial microsomia. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs11263613 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 rs11263613 come from?

GWAS Catalog, Nature communications 2016, PMID:26853712. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

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Craniofacial microsomia (rs11263613). MyGeneLog™. https://www.mygenelog.com/variants/rs11263613

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