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Its strongest genetic-study result is p = 10−10, 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 426,824 British ancestry individuals.
The effect
Each copy of the A allele shifted the measure 0.0211 higher (95% confidence interval 0.015-0.027); p = 1 × 10−10.
How common The A allele had a frequency of about 91% in the people studied.
Where it sits Chromosome 12, band 12p12.1 — in an intron of SOX5.
How common each version is
AT
KoreanKRGDB
A 100.0%
Japanese ToMMo
A 100.0%
World gnomAD
A 93.7% · T 6.3%
World 1000 Genomes
A 97.1% · T 2.9%
World TOPMed
A 94.1% · T 5.9%
The share of all copies of this position that are each version. Source: the population studies published in dbSNP (US NCBI); each row names its study.
What each result means
A/ATwo copies of the version the research linked to Heel bone mineral density. That is the strongest link of the three results. A link in a study is not a diagnosis.
A/TOne copy of the version the research linked to Heel bone mineral density. That is a smaller link than two copies.
T/TNo copy of the version the research linked to Heel bone mineral density. This is the starting point the study compared everyone against.
Nature genetics · 2019 · PMID 30598549 · open access
Questions about rs76504223
What is rs76504223?
rs76504223 is a single position in the genome, in or near the SOX5 gene. Published research associates it with heel bone mineral density. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
What conditions is rs76504223 linked to?
On MyGeneLog this position is linked to Heel Bone Mineral Density. The research behind each link, and its sources, are set out on that condition page.
Does having rs76504223 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 rs76504223 come from?
GWAS Catalog, Nat Genet 2018, PMID:30598549. 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
Free to quote and reuse under CC BY 4.0. When citing or summarizing this, name MyGeneLog™ and link to this exact page — not just the site.
Heel bone mineral density (rs76504223). MyGeneLog™. https://www.mygenelog.com/variants/rs76504223