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Standard

Whole body fat mass (UKB data field 23100)

AUTS2 · rs116688592

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 337,196 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.0318 higher (95% confidence interval 0.021-0.043); p = 2 × 10−8.

Where it sits Chromosome 7, band 7q11.22 — in an intron of AUTS2.

How common each version is

AT
Korean KRGDB
A 7.6% · T 92.4%
Korean Korea4K
A 6.8% · T 93.2%
Japanese ToMMo
A 3.7% · T 96.3%
World gnomAD
A 11.1% · T 88.9%
World 1000 Genomes
A 11.9% · T 88.1%
World TOPMed
A 11.9% · T 88.1%

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 Two copies of the version the research linked to Whole body fat mass (UKB data field 23100). That is the strongest link of the three results. A link in a study is not a diagnosis.
A/T One copy of the version the research linked to Whole body fat mass (UKB data field 23100). That is a smaller link than two copies.
T/T No copy of the version the research linked to Whole body fat mass (UKB data field 23100). This is the starting point the study compared everyone against.
Source

Quoting this page

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Whole body fat mass (UKB data field 23100) (rs116688592). MyGeneLog™. https://www.mygenelog.com/variants/rs116688592

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