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Standard

Triglyceride levels in chylomicrons and extremely large VLDL

GCK · rs34976798

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−16, with 7 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 C allele shifted the measure 0.03 mmol/L higher (95% confidence interval 0.03-0.03); p = 4 × 10−13.

Where it sits Chromosome 7, band 7p13 — in an intron of GCK.

How common each version is

AC
Korean KRGDB
A 91.4% · C 8.6%
Korean Korea4K
A 91.5% · C 8.5%
Korean Korea1K
A 91.0% · C 8.9%
Japanese ToMMo
A 93.7% · C 6.3%
Vietnamese
A 95.3% · C 4.7%
World gnomAD
A 93.5% · C 6.5%
World 1000 Genomes
A 93.8% · C 6.2%
World TOPMed
A 93.6% · C 6.4%

By ancestry gnomAD

East Asian
A 91.4% · C 8.6%
European (non-Finnish)
A 92.8% · C 7.2%
African / African American
A 94.4% · C 5.6%
South Asian
A 93.1% · C 6.9%
Admixed American (Latino)
A 94.9% · C 5.1%
Middle Eastern
A 94.9% · C 5.1%
Finnish
A 93.1% · C 6.9%
Ashkenazi Jewish
A 93.6% · C 6.4%

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. The ancestry rows are gnomAD's own groups (via Ensembl), as the survey defines them, not races.

What each result means

A/A No copy of the version the research linked to Triglyceride levels in chylomicrons and extremely large VLDL. This is the starting point the study compared everyone against.
A/C One copy of the version the research linked to Triglyceride levels in chylomicrons and extremely large VLDL. That is a smaller link than two copies.
C/C Two copies of the version the research linked to Triglyceride levels in chylomicrons and extremely large VLDL. 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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Triglyceride levels in chylomicrons and extremely large VLDL (rs34976798). MyGeneLog™. https://www.mygenelog.com/variants/rs34976798

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