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Bone mineral density (spine)

SOST · rs71382995

Where this position leads

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10⁻⁹, with 3 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 up to 20,132 European ancestry individuals; replicated in 10,092 European and East Asian ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.112 higher (95% confidence interval (0.074-0.149)); p = 6 × 10⁻⁹.

How common The A allele had a frequency of about 10% in the people studied.

Where it sits Chromosome 17, band 17q21.31 — in an intron of CFAP97D1.

How common each version is

AG

World gnomAD

A 5.1% · G 94.9%

World 1000 Genomes

A 2.1% · G 97.9%

World TOPMed

A 4.1% · G 95.9%

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. No Korean figure for this position yet.

What each result means

A/A Two copies of the version the research linked to Bone mineral density (spine). That is the strongest link of the three results. A link in a study is not a diagnosis.

A/G One copy of the version the research linked to Bone mineral density (spine). That is a smaller link than two copies.

G/G No copy of the version the research linked to Bone mineral density (spine). This is the starting point the study compared everyone against.

Source

Sequence variants in the PTCH1 gene associate with spine bone mineral density and osteoporotic fractures

Styrkarsdottir U, Thorleifsson G, Gudjonsson SA, Sigurdsson A, Center JR, Lee SH, Nguyen TV, Kwok TCY, Lee JSW, Ho SC, Woo J, Leung PC

and 11 more — show all

Kim BJ, Rafnar T, Kiemeney LA, Ingvarsson T, Koh JM, Tang NLS, Eisman JA, Christiansen C, Sigurdsson G, Thorsteinsdottir U, Stefansson K

Nature communications · 2016 · PMID 26733130 · open access

Questions about rs71382995

What is rs71382995?

rs71382995 is a single position in the genome, in or near the SOST gene. Published research associates it with bone mineral density (spine). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs71382995 linked to?

On MyGeneLog this position is linked to Spine Bone Mineral Density. The research behind each link, and its sources, are set out on that condition page.

Does having rs71382995 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 rs71382995 come from?

GWAS Catalog, Nat Commun 2016, PMID:26733130. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

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Bone mineral density (spine) (rs71382995). MyGeneLog™. https://www.mygenelog.com/variants/rs71382995

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