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Thigh bone marrow fat fraction

ESR1 · rs3020332

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−8, with 8 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 37,589 British ancestry individuals.

The effect Each copy of the C allele shifted the measure 0.04 higher (95% confidence interval 0.02-0.06); p = 5 × 10−9.

How common The C allele had a frequency of about 55% in the people studied.

Where it sits Chromosome 6, band 6q25.1 — in a non-coding transcript of ESR1.

How common each version is

CT
Korean KRGDB
C 86.1% · T 13.9%
Korean Korea4K
C 85.4% · T 14.6%
Korean Korea1K
C 85.0% · T 15.0%
Japanese ToMMo
C 83.7% · T 16.3%
Vietnamese
C 85.4% · T 14.6%
World gnomAD
C 54.3% · T 45.7%
World 1000 Genomes
C 63.6% · T 36.4%
World TOPMed
C 54.6% · T 45.4%

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 Thigh bone marrow fat fraction. That is the strongest link of the three results. A link in a study is not a diagnosis.
C/T One copy of the version the research linked to Thigh bone marrow fat fraction. That is a smaller link than two copies.
T/T No copy of the version the research linked to Thigh bone marrow fat fraction. This is the starting point the study compared everyone against.
Source

Questions about rs3020332

What is rs3020332?

rs3020332 is a single position in the genome, in or near the ESR1 gene. Published research associates it with thigh bone marrow fat fraction. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs3020332 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 rs3020332 come from?

GWAS Catalog, Journal of obesity 2025, PMID:40922984. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

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Thigh bone marrow fat fraction (rs3020332). MyGeneLog™. https://www.mygenelog.com/variants/rs3020332

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