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Standard

Waist-to-hip ratio adjusted for body mass index

EYA2 · rs6090583

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−10, with 6 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 56,910 European ancestry men, up to 86,570 European ancestry women; replicated in up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African American/Afro-Caribbean ancestry men, 6,258 African American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women.

The effect Each copy of the A allele shifted the measure 0.0224 higher (95% confidence interval 0.016-0.029); p = 6 × 10−11.

How common The A allele had a frequency of about 48% in the people studied.

Where it sits Chromosome 20, band 20q13.12 — in an intron of EYA2.

How common each version is

AG

By ancestry gnomAD

East Asian
A 84.8% · G 15.2%
European (non-Finnish)
A 48.3% · G 51.7%
African / African American
A 71.4% · G 28.6%
South Asian
A 57.3% · G 42.7%
Admixed American (Latino)
A 60.1% · G 39.9%
Middle Eastern
A 59.9% · G 40.1%
Finnish
A 50.2% · G 49.8%
Ashkenazi Jewish
A 47.5% · G 52.5%

The share of all copies of this position that are each version. 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 Waist-to-hip ratio adjusted for body mass index. 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 Waist-to-hip ratio adjusted for body mass index. That is a smaller link than two copies.
G/G No copy of the version the research linked to Waist-to-hip ratio adjusted for body mass index. This is the starting point the study compared everyone against.
DNA databases also record a third, rare version at this position, carried on fewer than one in a hundred copies of the DNA. The three results above cover the two common versions only.
Source

Quoting this page

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Waist-to-hip ratio adjusted for body mass index (rs6090583). MyGeneLog™. https://www.mygenelog.com/variants/rs6090583

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