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Standard

Menarche (age at onset)

CSMD1 · rs7463166

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 Up to 182,413 European ancestry females.

The effect Each copy of the A allele shifted the measure 0.03 higher (95% confidence interval 0.02-0.04); p = 1 × 10−8.

How common The A allele had a frequency of about 63% in the people studied.

Where it sits Chromosome 8, band 8p23.2 — in an intron of CSMD1.

How common each version is

AG
Korean KRGDB
A 97.4% · G 2.6%
Korean Korea4K
A 96.9% · G 3.1%
Japanese ToMMo
A 98.5% · G 1.5%
Vietnamese
A 92.5% · G 7.5%
World gnomAD
A 74.5% · G 25.5%
World 1000 Genomes
A 82.7% · G 17.3%
World TOPMed
A 76.1% · G 23.9%

By ancestry gnomAD

East Asian
A 96.0% · G 4.0%
European (non-Finnish)
A 63.2% · G 36.8%
African / African American
A 92.1% · G 7.9%
South Asian
A 74.4% · G 25.7%
Admixed American (Latino)
A 77.8% · G 22.2%
Middle Eastern
A 67.1% · G 32.9%
Finnish
A 64.6% · G 35.4%
Ashkenazi Jewish
A 68.2% · G 31.8%

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 Two copies of the version the research linked to Menarche (age at onset). 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 Menarche (age at onset). That is a smaller link than two copies.
G/G No copy of the version the research linked to Menarche (age at onset). This is the starting point the study compared everyone against.
Source

Quoting this page

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Menarche (age at onset) (rs7463166). MyGeneLog™. https://www.mygenelog.com/variants/rs7463166

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