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Standard

Cholesterol levels in very large VLDL

BMAL1 · rs7937060

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−15, with 15 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 = 8 × 10−13.

Where it sits Chromosome 11, band 11p15.3 — in an intron of BMAL1.

How common each version is

CT
Korean KRGDB
C 87.7% · T 12.3%
Korean Korea4K
C 88.8% · T 11.2%
Korean Korea1K
C 89.4% · T 10.6%
Japanese ToMMo
C 86.2% · T 13.8%
Vietnamese
C 80.8% · T 19.2%
World gnomAD
C 49.8% · T 50.2%
World 1000 Genomes
C 60.6% · T 39.4%
World TOPMed
C 50.3% · T 49.7%

By ancestry gnomAD

East Asian
C 85.2% · T 14.8%
European (non-Finnish)
C 39.4% · T 60.6%
African / African American
C 59.3% · T 40.7%
South Asian
C 58.4% · T 41.6%
Admixed American (Latino)
C 55.8% · T 44.2%
Middle Eastern
C 40.4% · T 59.6%
Finnish
C 52.3% · T 47.7%
Ashkenazi Jewish
C 41.7% · T 58.3%

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

C/C No copy of the version the research linked to Cholesterol levels in very large VLDL. This is the starting point the study compared everyone against.
C/T One copy of the version the research linked to Cholesterol levels in very large VLDL. That is a smaller link than two copies.
T/T Two copies of the version the research linked to Cholesterol levels in very 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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Cholesterol levels in very large VLDL (rs7937060). MyGeneLog™. https://www.mygenelog.com/variants/rs7937060

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