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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 8,809 European ancestry individuals.
The effect
Each copy of the C allele shifted the measure 0.153 higher (95% confidence interval 0.13-0.18); p = 1 × 10−27.
Where it sits Chromosome 11, band 11p15.1 — in an intron of HPS5.
What each result means
C/CTwo copies of the version the research linked to 2-hydroxy-3-methylvalerate levels. 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 2-hydroxy-3-methylvalerate levels. That is a smaller link than two copies.
T/TNo copy of the version the research linked to 2-hydroxy-3-methylvalerate levels. This is the starting point the study compared everyone against.
rs12294486 is a single position in the genome, in or near the HPS5 gene. Published research associates it with 2-hydroxy-3-methylvalerate levels. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
Does having rs12294486 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 rs12294486 come from?
GWAS Catalog, Metabolites 2022, PMID:35050183. 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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