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Menarche (age at onset)

ESR1 · rs6933660

Where this position leads

Condition: Age at Menarche

rs6933660 Condition: Age at Menarche Age at Menarche Condition rs6933660 rs6933660 ESR1

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−9, 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 C allele shifted the measure 0.03 higher (95% confidence interval 0.02-0.04); p = 1 × 10−9.

How common The C allele had a frequency of about 69% in the people studied.

Where it sits Chromosome 6, band 6q25.1 — between genes, 3.5 kb from LOC124901434.

How common each version is

AC
Korean KRGDB
A 68.5% · C 31.5%
Korean Korea4K
A 68.1% · C 31.9%
Korean Korea1K
A 69.4% · C 30.6%
Japanese ToMMo
A 71.0% · C 29.0%
Vietnamese
A 82.7% · C 17.3%
World gnomAD
A 48.1% · C 51.9%
World 1000 Genomes
A 61.2% · C 38.8%
World TOPMed
A 49.9% · C 50.1%

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

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

Questions about rs6933660

What is rs6933660?

rs6933660 is a single position in the genome, in or near the ESR1 gene. Published research associates it with menarche (age at onset). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs6933660 linked to?

On MyGeneLog this position is linked to Age at Menarche. The research behind each link, and its sources, are set out on that condition page.

Does having rs6933660 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 rs6933660 come from?

GWAS Catalog, Nature 2014, PMID:25231870. 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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Menarche (age at onset) (rs6933660). MyGeneLog™. https://www.mygenelog.com/variants/rs6933660

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