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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 6,136 Finnish ancestry individuals.
The effect
Each copy of the A allele shifted the measure 0.15 lower; p = 2 × 10−15.
Where it sits Chromosome 12, band 12q23.2 — in an intron of PAH.
What each result means
A/ATwo copies of the version the research linked to Gamma-glutamylphenylalanine 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 Gamma-glutamylphenylalanine levels. That is a smaller link than two copies.
G/GNo copy of the version the research linked to Gamma-glutamylphenylalanine levels. This is the starting point the study compared everyone against.
Nature communications · 2022 · PMID 35347128 · open access
Questions about rs1718292
What is rs1718292?
rs1718292 is a single position in the genome, in or near the PAH gene. Published research associates it with gamma-glutamylphenylalanine levels. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
Does having rs1718292 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 rs1718292 come from?
GWAS Catalog, Nature communications 2022, PMID:35347128. 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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