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Standard

Acetone levels

PPARA · rs135549

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−10, 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 434,646 British ancestry individuals, 8,796 British Central/South Asian individuals, 6,573 British African individuals.

The effect Each copy of the T allele shifted the measure 0.01 mmol/L higher (95% confidence interval 0.01-0.01); p = 1 × 10−10.

Where it sits Chromosome 22, band 22q13.31 — in an intron of PPARA.

How common each version is

CT
Korean Korea4K
C 20.2% · T 79.8%
Korean Korea1K
C 19.1% · T 81.0%
Japanese ToMMo
C 17.9% · T 82.1%
World gnomAD
C 47.6% · T 52.4%
World TOPMed
C 48.2% · T 51.8%

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.

What each result means

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

Quoting this page

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Acetone levels (rs135549). MyGeneLog™. https://www.mygenelog.com/variants/rs135549

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