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Standard

Gamma glutamyl transferase levels

CABIN1 · rs735863

Strength of the evidence

2 / 4

Its strongest genetic-study result is p = 10−25, 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 342,339 European ancestry individuals, 6,015 African ancestry individuals, 7,336 South Asian ancestry individuals.

The effect Each copy of the T allele shifted the measure 0.0475 higher (95% confidence interval 0.038-0.057); p = 2 × 10−25.

Where it sits Chromosome 22, band 22q11.23 — in an intron of CABIN1.

How common each version is

CT
Korean Korea4K
C 97.1% · T 2.9%
Korean Korea1K
C 97.3% · T 2.7%
Japanese ToMMo
C 97.3% · T 2.7%
World gnomAD
C 94.2% · T 5.8%
World TOPMed
C 94.5% · T 5.5%

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 Gamma glutamyl transferase levels. This is the starting point the study compared everyone against.
C/T One copy of the version the research linked to Gamma glutamyl transferase levels. That is a smaller link than two copies.
T/T Two copies of the version the research linked to Gamma glutamyl transferase levels. That is the strongest link of the three results. A link in a study is not a diagnosis.
Source

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Gamma glutamyl transferase levels (rs735863). MyGeneLog™. https://www.mygenelog.com/variants/rs735863

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