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Its strongest genetic-study result is p = 10−140, with 1 associations in the GWAS Catalog.
How this is scored
4: ClinVar disease-causing, reviewed by an expert panel or a guideline (3–4 stars). 3: ClinVar, several labs agreeing (2 stars), or a genetic study at p ≤ 10−50. 2: ClinVar from one lab (1 star), or p ≤ 10−20. 1: ClinVar submitted without criteria (0 stars), or genome-wide significance (p ≤ 5×10−8). The higher of the two counts. It says how solid the evidence is, not whether it matters for a particular person.
What the study found
Who was studied 5,314,291 European ancestry, Hispanic or Latin American, East Asian ancestry, African ancestry, South Asian ancestry individuals.
The effect
Each copy of the A allele shifted the measure 0.0191 lower (95% confidence interval 0.018-0.021); p = 6 × 10−141.
How common The A allele had a frequency of about 21% in the people studied.
Where it sits Chromosome 6, band 6p21.31 — in an intron of ITPR3.
What each result means
A/ATwo copies of the version the research linked to Height. 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 Height. That is a smaller link than two copies.
G/GNo copy of the version the research linked to Height. This is the starting point the study compared everyone against.
rs10947427 is a single position in the genome, in or near the ITPR3 gene. Published research associates it with height. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
What conditions is rs10947427 linked to?
On MyGeneLog this position is linked to Height. The research behind each link, and its sources, are set out on that condition page.
Does having rs10947427 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 rs10947427 come from?
GWAS Catalog, Nature 2022, PMID:36224396. 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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