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Standard

Isobutyrylcarnitine levels

near ACADS · rs3021337

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 14,296 European ancestry individuals; replicated in 5,698 European ancestry individuals.

The effect Each copy of the T allele shifted the measure 0.0672 lower (95% confidence interval 0.046-0.089); p = 1 × 10−9.

How common The T allele had a frequency of about 30% in the people studied.

Where it sits Chromosome 12, band 12q24.31 — between genes, 0.3 kb from ACADS.

What ClinVar records

Classification Benign; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2018-06-14. ClinVar record 1288636 NC_000012.12:g.120725458C>T

Change history MyGeneLog™ keeps a copy of every weekly release from 2026-10-19 and compares them. This position's classification has not changed since.

What this is ClinVar's aggregate record for this position (as of its 2026-10-19 release), not a result about you. A classification describes the variant against the condition named, as laboratories submitted it. Whether a person carries this variant, and what that would mean for them, is a question for a clinical test and a genetic counsellor.

How common each version is

CT
Korean KRGDB
C 94.8% · T 5.2%
Korean Korea4K
C 95.8% · T 4.2%
Korean Korea1K
C 96.0% · T 4.0%
Japanese ToMMo
C 95.4% · T 4.6%
Vietnamese
C 87.0% · T 13.0%
World gnomAD
C 69.2% · T 30.8%
World 1000 Genomes
C 72.5% · T 27.5%
World TOPMed
C 68.4% · T 31.6%

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 Isobutyrylcarnitine levels. This is the starting point the study compared everyone against.
C/T One copy of the version the research linked to Isobutyrylcarnitine levels. That is a smaller link than two copies.
T/T Two copies of the version the research linked to Isobutyrylcarnitine 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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Isobutyrylcarnitine levels (rs3021337). MyGeneLog™. https://www.mygenelog.com/variants/rs3021337

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