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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 390,964 European ancestry individuals; replicated in 105,030 East Asian ancestry individuals.
The effect
Each copy of the G allele shifted the measure 7.1 z-score higher; p = 1 × 10−12.
How common The G allele had a frequency of about 44% in the people studied.
Where it sits Chromosome 2, band 2q35 — a missense change in TMBIM1.
What each result means
A/APublished research associates this genotype with typical/baseline likelihood of Serum alkaline phosphatase levels — no copies of the reported risk allele.
A/GPublished research associates this genotype (one copy of the reported risk allele) with an intermediate association with Serum alkaline phosphatase levels.
G/GPublished research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Serum alkaline phosphatase levels compared to the general population.
Nature communications · 2021 · PMID 33547301 · open access
Questions about rs2292553
What is rs2292553?
rs2292553 is a single position in the genome, in or near the TMBIM1 gene. Published research associates it with serum alkaline phosphatase levels. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
Does having rs2292553 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 rs2292553 come from?
GWAS Catalog, Nature communications 2021, PMID:33547301. 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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