Standard

Heel bone mineral density

BCAS3 · rs57043009

Where this position leads

Condition: Heel Bone Mineral Density

rs57043009 Condition: Heel Bone Mineral Density Heel Bone Mineral Density Condition rs57043009 rs57043009 BCAS3

Strength of the evidence

3 / 4

Its strongest genetic-study result is p = 10−102, 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 426,824 British ancestry individuals.

The effect Each copy of the C allele shifted the measure 0.0433 lower (95% confidence interval 0.037-0.049); p = 2 × 10−48.

How common The C allele had a frequency of about 85% in the people studied.

Where it sits Chromosome 17, band 17q23.2 — in an intron of BCAS3.

How common each version is

CT
Korean KRGDB
C 86.7% · T 13.3%
Korean Korea4K
C 87.0% · T 13.0%
Korean Korea1K
C 86.5% · T 13.5%
Japanese ToMMo
C 84.2% · T 15.8%
Vietnamese
C 92.0% · T 8.0%
World gnomAD
C 80.5% · T 19.5%
World 1000 Genomes
C 82.8% · T 17.2%
World TOPMed
C 79.3% · T 20.7%

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

C/C Two 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.
C/T One copy of the version the research linked to Heel bone mineral density. That is a smaller link than two copies.
T/T No copy of the version the research linked to Heel bone mineral density. This is the starting point the study compared everyone against.
Source

Questions about rs57043009

What is rs57043009?

rs57043009 is a single position in the genome, in or near the BCAS3 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 rs57043009 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 rs57043009 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 rs57043009 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.

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 (rs57043009). MyGeneLog™. https://www.mygenelog.com/variants/rs57043009

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