Standard

DXA-Bone mineral density (lumbar spine)

near PTCH1 · rs73654566

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−8, 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 30,449 European ancestry individuals.

The effect Each copy of the C allele shifted the measure 0.0765 lower (95% confidence interval 0.05-0.103); p = 2 × 10−8.

How common The C allele had a frequency of about 11% in the people studied.

Where it sits Chromosome 9, band 9q22.32 — between genes, 29.8 kb from PTCH1.

How common each version is

CG
Korean KRGDB
C 17.2% · G 82.8%
Korean Korea4K
C 17.9% · G 82.1%
Korean Korea1K
C 17.5% · G 82.5%
Japanese ToMMo
C 14.5% · G 85.5%
Vietnamese
C 8.5% · G 91.5%
World gnomAD
C 16.3% · G 83.7%
World 1000 Genomes
C 16.8% · G 83.2%
World TOPMed
C 16.9% · G 83.1%

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 DXA-Bone mineral density (lumbar spine). That is the strongest link of the three results. A link in a study is not a diagnosis.
C/G One copy of the version the research linked to DXA-Bone mineral density (lumbar spine). That is a smaller link than two copies.
G/G No copy of the version the research linked to DXA-Bone mineral density (lumbar spine). This is the starting point the study compared everyone against.
Source

Questions about rs73654566

What is rs73654566?

rs73654566 is a single position in the genome, in or near the near PTCH1 gene. Published research associates it with dxa-bone mineral density (lumbar spine). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs73654566 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 rs73654566 come from?

GWAS Catalog, Genomics, proteomics & bioinformatics 2025, PMID:41206123. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

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

DXA-Bone mineral density (lumbar spine) (rs73654566). MyGeneLog™. https://www.mygenelog.com/variants/rs73654566

← See all variants