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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 945 Southern Han Chinese ancestry cases, 5,048 Southern Han Chinese ancestry controls; replicated in 1,273 Han Chinese ancestry cases, 5,097 Han Chinese ancestry controls.
The effect
The reported allele is C; the catalogue records no effect size
; p = 2 × 10−17.
How common The C allele had a frequency of about 54% in the people studied.
Where it sits Chromosome 20, band 20q12 — between genes, 46 kb from MAFB.
What each result means
C/CTwo copies of the version the research linked to Nonsyndromic cleft lip. That is the strongest link of the three results. A link in a study is not a diagnosis.
C/TOne copy of the version the research linked to Nonsyndromic cleft lip. That is a smaller link than two copies.
T/TNo copy of the version the research linked to Nonsyndromic cleft lip. This is the starting point the study compared everyone against.
PLoS genetics · 2019 · PMID 31609978 · open access
Questions about rs17820943
What is rs17820943?
rs17820943 is a single position in the genome, in or near the MAFB gene. Published research associates it with nonsyndromic cleft lip. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
Does having rs17820943 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 rs17820943 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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