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Standard

Cholesterol levels in very small VLDL

HLA-DQB1 · rs6689

Strength of the evidence

3 / 4

Its strongest genetic-study result is p = 10−87, with 31 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 G allele shifted the measure 0.03 mmol/L lower (95% confidence interval 0.03-0.03); p = 7 × 10−39.

Where it sits Chromosome 6, band 6p21.32 — in the 3′ untranslated region of HLA-DQB1.

How common each version is

AG
Korean KRGDB
A 75.9% · G 24.1%
Korean Korea4K
A 75.3% · G 24.7%
Korean Korea1K
A 47.7% · G 52.3%
Japanese ToMMo
A 81.5% · G 18.5%
World gnomAD
A 77.3% · G 22.7%
World 1000 Genomes
A 75.8% · G 24.2%
World TOPMed
A 78.0% · G 22.0%

By ancestry gnomAD

East Asian
A 79.6% · G 20.4%
European (non-Finnish)
A 79.2% · G 20.8%
African / African American
A 73.8% · G 26.2%
South Asian
A 74.9% · G 25.1%
Admixed American (Latino)
A 81.1% · G 18.9%
Middle Eastern
A 81.2% · G 18.8%
Finnish
A 72.8% · G 27.2%
Ashkenazi Jewish
A 77.3% · G 22.7%

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 Cholesterol levels in very small VLDL. This is the starting point the study compared everyone against.
A/G One copy of the version the research linked to Cholesterol levels in very small VLDL. That is a smaller link than two copies.
G/G Two copies of the version the research linked to Cholesterol levels in very small 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 small VLDL (rs6689). MyGeneLog™. https://www.mygenelog.com/variants/rs6689

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