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Nonsyndromic cleft palate

DOCK9 · rs4646211

What the study found

Who was studied 930 Southern Han Chinese ancestry cases, 5,048 Southern Han Chinese ancestry controls; replicated in 1,141 Han Chinese ancestry cases, 5,097 Han Chinese ancestry controls.

The effect The reported allele is C; the catalogue records no effect size ; p = 5 × 10−12.

How common The C allele had a frequency of about 35% in the people studied.

Where it sits Chromosome 13, band 13q32.3 — in an intron of SLC15A1.

What each result means

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

Questions about rs4646211

What is rs4646211?

rs4646211 is a single position in the genome, in or near the DOCK9 gene. Published research associates it with nonsyndromic cleft palate. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs4646211 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 rs4646211 come from?

GWAS Catalog, PLoS genetics 2019, PMID:31609978. 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.

Nonsyndromic cleft palate (rs4646211). MyGeneLog™. https://www.mygenelog.com/variants/rs4646211

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