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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 11,814 European, Hispanic or African American individuals; replicated in up to 2,466 African American individuals, up to 15,619 European ancestry individuals, 1,734 Hispanic ancestry children.
The effect
Each copy of the A allele shifted the measure 0.092 lower (95% confidence interval 0.065-0.119); p = 2 × 10−11.
How common The A allele had a frequency of about 42% in the people studied.
Where it sits Chromosome 12, band 12q23.2 — inside PAH.
What each result means
A/ATwo copies of the version the research linked to Metabolite levels (phenylalanine). 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 Metabolite levels (phenylalanine). That is a smaller link than two copies.
G/GNo copy of the version the research linked to Metabolite levels (phenylalanine). This is the starting point the study compared everyone against.
Nature communications · 2023 · PMID 37253714 · open access
Questions about rs2173442
What is rs2173442?
rs2173442 is a single position in the genome, in or near the PAH gene. Published research associates it with metabolite levels (phenylalanine). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
Does having rs2173442 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 rs2173442 come from?
GWAS Catalog, Nature communications 2023, PMID:37253714. 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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