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Its strongest genetic-study result is p = 10−11, with 1 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 507 African American or Afro-Caribbean cases, 120,862 African American or Afro-Caribbean controls, 1,872 European ancestry cases, 447,066 European ancestry controls.
The effect
Each copy of the C allele shifted the measure 2.97 lower (95% confidence interval 2.94-3); p = 3 × 10−11.
How common The C allele had a frequency of about 100% in the people studied.
Where it sits Chromosome 2, band 2q22.1 — in an intron of LRP1B.
What each result means
C/CTwo copies of the version the research linked to Cancer of bone and connective tissue (PheCode 170). That is the strongest link of the three results. A link in a study is not a diagnosis.
C/TOne copy of the version the research linked to Cancer of bone and connective tissue (PheCode 170). That is a smaller link than two copies.
T/TNo copy of the version the research linked to Cancer of bone and connective tissue (PheCode 170). This is the starting point the study compared everyone against.
Science (New York, N.Y.) · 2024 · PMID 39024449 · open access
Questions about rs549928751
What is rs549928751?
rs549928751 is a single position in the genome, in or near the LRP1B gene. Published research associates it with cancer of bone and connective tissue (phecode 170). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
What conditions is rs549928751 linked to?
On MyGeneLog this position is linked to Cancer of Bone and Connective Tissue. The research behind each link, and its sources, are set out on that condition page.
Does having rs549928751 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 rs549928751 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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Quoting this page
Licensed CC BY-NC 4.0: free to read, share and adapt for non-commercial use, naming MyGeneLog™ and linking the exact page. Commercial use, including training or serving a commercial AI system, needs a licence — https://www.mygenelog.com/license
Cancer of bone and connective tissue (PheCode 170) (rs549928751). MyGeneLog™. https://www.mygenelog.com/variants/rs549928751