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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 14,296 European ancestry individuals; replicated in 5,698 European ancestry individuals.
The effect
Each copy of the A allele shifted the measure 0.0833 lower (95% confidence interval 0.063-0.103); p = 2 × 10−16.
How common The A allele had a frequency of about 51% in the people studied.
Where it sits Chromosome 16, band 16q21 — in an intron of GOT2.
What each result means
A/ATwo copies of the version the research linked to Phenylpyruvate levels. 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 Phenylpyruvate levels. That is a smaller link than two copies.
G/GNo copy of the version the research linked to Phenylpyruvate levels. This is the starting point the study compared everyone against.
Nature medicine · 2022 · PMID 36357675 · open access
Questions about rs30843
What is rs30843?
rs30843 is a single position in the genome, in or near the GOT2 gene. Published research associates it with phenylpyruvate levels. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
Does having rs30843 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 rs30843 come from?
GWAS Catalog, Nature medicine 2022, PMID:36357675. 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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