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Adolescent idiopathic scoliosis

BCKDHB · rs658839

Where this position leads

Condition: Adolescent Idiopathic Scoliosis

rs658839 Condition: Adolescent Idiopathic Scoliosis Adolescent Idiopathic Scoliosis Condition rs658839 rs658839 BCKDHB

What the study found

Who was studied 5,327 Japanese ancestry cases, 73,884 Japanese ancestry controls.

The effect Each copy of the G allele carried 1.14 times the odds of Adolescent idiopathic scoliosis (95% confidence interval 1.09-1.19); p = 3 × 10−9.

How common The G allele had a frequency of about 51% in the people studied.

Where it sits Chromosome 6, band 6q14.1 — between genes, 48.6 kb from RPSAP72.

What each result means

A/A No copy of the version the research linked to Adolescent idiopathic scoliosis. This is the starting point the study compared everyone against.
A/G One copy of the version the research linked to Adolescent idiopathic scoliosis. That is a smaller link than two copies.
G/G Two 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.
Source

Questions about rs658839

What is rs658839?

rs658839 is a single position in the genome, in or near the BCKDHB 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 rs658839 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 rs658839 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 rs658839 come from?

GWAS Catalog, GWAS Catalog n.d., PMID:31417091. 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 (rs658839). MyGeneLog™. https://www.mygenelog.com/variants/rs658839

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