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Standard

Physical function (baseline)

ACAN · rs4332725

Strength of the evidence

2 / 4

Its strongest genetic-study result is p = 10−29, 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 405,979 European ancestry individuals.

The effect Each copy of the C allele shifted the measure 0.013 lower (95% confidence interval 0.011-0.015); p = 2 × 10−29.

How common The C allele had a frequency of about 53% in the people studied.

Where it sits Chromosome 15, band 15q26.1 — in an intron of ACAN.

How common each version is

AC
Korean KRGDB
A 75.0% · C 25.0%
Korean Korea4K
A 65.3% · C 34.7%
Korean Korea1K
A 65.5% · C 34.5%
Japanese ToMMo
A 66.4% · C 33.6%
World gnomAD
A 42.7% · C 57.3%
World 1000 Genomes
A 57.6% · C 42.4%

By ancestry gnomAD

East Asian
A 71.4% · C 28.6%
European (non-Finnish)
A 40.0% · C 60.0%
African / African American
A 33.8% · C 66.2%
South Asian
A 48.9% · C 51.1%
Admixed American (Latino)
A 51.4% · C 48.6%
Middle Eastern
A 31.0% · C 69.0%
Finnish
A 54.3% · C 45.7%
Ashkenazi Jewish
A 32.2% · C 67.8%

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. The ancestry rows are gnomAD's own groups (via Ensembl), as the survey defines them, not races.

What each result means

A/A No copy of the version the research linked to Physical function (baseline). This is the starting point the study compared everyone against.
A/C One copy of the version the research linked to Physical function (baseline). That is a smaller link than two copies.
C/C Two copies of the version the research linked to Physical function (baseline). That is the strongest link of the three results. A link in a study is not a diagnosis.
Source

Quoting this page

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Physical function (baseline) (rs4332725). MyGeneLog™. https://www.mygenelog.com/variants/rs4332725

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