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Who was studied 960 Han Chinese ancestry cases, 1,499 Han Chinese ancestry controls; replicated in 3,316 Han Chinese ancestry cases, 4,516 Han Chinese ancestry controls.
The effect
Each copy of the T allele carried 1.28 times the odds of Adolescent idiopathic scoliosis (95% confidence interval 1.20–1.37); p = 8 × 10−13.
How common The T allele had a frequency of about 20% in the people studied.
Where it sits Chromosome 2, band 2q36.1 — between genes, 48.7 kb from LLPHP3.
What each result means
C/CNo copy of the version the research linked to Adolescent idiopathic scoliosis. This is the starting point the study compared everyone against.
C/TOne copy of the version the research linked to Adolescent idiopathic scoliosis. That is a smaller link than two copies.
T/TTwo 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 · 2015 · PMID 26394188 · open access
Questions about rs13398147
What is rs13398147?
rs13398147 is a single position in the genome, in or near the PAX3 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 rs13398147 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 rs13398147 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 rs13398147 come from?
GWAS Catalog, Nature communications 2015, PMID:26394188. 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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