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Stands on its own.
Nothing else here links to this position yet — but the page above is the point: what the
research found, what each genotype means, and where it came from, in language you can
read. Links to conditions, drugs and the senses appear automatically if we write them.
Strength of the evidence
1 / 4
Its strongest genetic-study result is p = 10−14, with 2 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 22,443 African American or Afro-Caribbean cases, 87,125 African American or Afro-Caribbean controls, 9,553 Hispanic or Latin American cases, 44,898 Hispanic or Latin American controls, 758 East Asian ancestry cases, 5,615 East Asian ancestry controls, 76,841 European ancestry cases, 331,725 European ancestry controls.
The effect
Each copy of the C allele shifted the measure 0.0578 lower (95% confidence interval 0.044-0.071); p = 4 × 10−15.
How common The C allele had a frequency of about 83% in the people studied.
Where it sits Chromosome 12, band 12p12.1 — in an intron of SOX5.
What each result means
A/ANo copy of the version the research linked to Intervertebral disc disorders (PheCode 722). This is the starting point the study compared everyone against.
A/COne copy of the version the research linked to Intervertebral disc disorders (PheCode 722). That is a smaller link than two copies.
C/CTwo copies of the version the research linked to Intervertebral disc disorders (PheCode 722). That is the strongest link of the three results. A link in a study is not a diagnosis.
Science (New York, N.Y.) · 2024 · PMID 39024449 · open access
Questions about rs56290807
What is rs56290807?
rs56290807 is a single position in the genome, in or near the SOX5 gene. Published research associates it with intervertebral disc disorders (phecode 722). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
Does having rs56290807 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 rs56290807 come from?
GWAS Catalog, Science (New York, N.Y.) 2024, PMID:39024449. 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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