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Stands on its own.
Nothing else here links to this position yet — but the page above is the point: what the
research found, what each genotype means, and where it came from, in language you can
read. Links to conditions, drugs and the senses appear automatically if we write them.
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 A; the catalogue records no effect size
; p = 3 × 10−16.
How common The A allele had a frequency of about 66% in the people studied.
Where it sits Chromosome 14, band 14q13.3 — in an intron of SLC25A21.
What each result means
A/ATwo 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.
A/GOne copy of the version the research linked to Nonsyndromic cleft palate. That is a smaller link than two copies.
G/GNo copy of the version the research linked to Nonsyndromic cleft palate. This is the starting point the study compared everyone against.
PLoS genetics · 2019 · PMID 31609978 · open access
Questions about rs730643
What is rs730643?
rs730643 is a single position in the genome, in or near the PAX9 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 rs730643 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 rs730643 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.
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