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Who was studied 5,004 Japanese ancestry female cases, 33,679 Japanese ancestry female controls.
The effect
Each copy of the G allele carried 1.52 times the odds of Adolescent idiopathic scoliosis (95% confidence interval 1.31-1.76); p = 3 × 10−8.
How common The G allele had a frequency of about 2% in the people studied.
Where it sits Chromosome 1, band 1q23.3 — between genes, 16.1 kb from UHMK1.
What each result means
A/ANo copy of the version the research linked to Adolescent idiopathic scoliosis. This is the starting point the study compared everyone against.
A/GOne copy of the version the research linked to Adolescent idiopathic scoliosis. That is a smaller link than two copies.
G/GTwo copies of the version the research linked to Adolescent idiopathic scoliosis. That is the strongest link of the three results. A link in a study is not a diagnosis.
Nature communications · 2019 · PMID 31417091 · open access
Questions about rs142502288
What is rs142502288?
rs142502288 is a single position in the genome, in or near the SH2D1B/UHMK1 gene. Published research associates it with adolescent idiopathic scoliosis. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
What conditions is rs142502288 linked to?
On MyGeneLog this position is linked to Adolescent Idiopathic Scoliosis. The research behind each link, and its sources, are set out on that condition page.
Does having rs142502288 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 rs142502288 come from?
GWAS Catalog, Nature communications 2019, PMID:31417091. 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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