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Adolescent idiopathic scoliosis (severe)

SOX9 · rs12946942

Where this position leads

Condition: Adolescent Idiopathic Scoliosis

rs12946942 Condition: Adolescent Idiopathic Scoliosis Adolescent Idiopathic Scoliosis Condition rs12946942 rs12946942 SOX9

What the study found

Who was studied 554 Japanese ancestry cases, 1,474 Japanese ancestry controls; replicated in 839 East Asian ancestry cases, 10,149 East Asian ancestry controls.

The effect Each copy of the T allele carried 2.21 times the odds of Adolescent idiopathic scoliosis (severe) (95% confidence interval 1.76-2.77); p = 6 × 10−12.

How common The T allele had a frequency of about 21% in the people studied.

Where it sits Chromosome 17, band 17q24.3 — between genes, 38.7 kb from CASC17.

What each result means

G/G No copy of the version the research linked to Adolescent idiopathic scoliosis (severe). This is the starting point the study compared everyone against.
G/T One copy of the version the research linked to Adolescent idiopathic scoliosis (severe). That is a smaller link than two copies.
T/T Two copies of the version the research linked to Adolescent idiopathic scoliosis (severe). That is the strongest link of the three results. A link in a study is not a diagnosis.
Source

Questions about rs12946942

What is rs12946942?

rs12946942 is a single position in the genome, in or near the SOX9 gene. Published research associates it with adolescent idiopathic scoliosis (severe). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs12946942 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 rs12946942 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 rs12946942 come from?

GWAS Catalog, PLoS One 2013, PMID:24023777. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

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Adolescent idiopathic scoliosis (severe) (rs12946942). MyGeneLog™. https://www.mygenelog.com/variants/rs12946942

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