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Standard

Triglycerides in very large HDL

MAST3 · rs60146811

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−17, with 2 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 A allele shifted the measure 0.02 mmol/L lower (95% confidence interval 0.02-0.02); p = 2 × 10−12.

Where it sits Chromosome 19, band 19p13.11 — in an intron of MAST3.

How common each version is

AG
Korean KRGDB
A 16.0% · G 84.0%
Korean Korea4K
A 16.3% · G 83.7%
Korean Korea1K
A 17.3% · G 82.7%
Japanese ToMMo
A 13.3% · G 86.7%
Vietnamese
A 3.7% · G 96.3%
World gnomAD
A 23.5% · G 76.4%
World 1000 Genomes
A 17.7% · G 82.3%
World TOPMed
A 23.1% · G 76.9%

By ancestry gnomAD

East Asian
A 12.0% · G 88.0%
European (non-Finnish)
A 27.0% · G 73.0%
African / African American
A 20.0% · G 80.0%
South Asian
A 17.2% · G 82.8%
Admixed American (Latino)
A 19.9% · G 80.1%
Middle Eastern
A 24.1% · G 75.8%
Finnish
A 27.8% · G 72.2%
Ashkenazi Jewish
A 27.6% · G 72.4%

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 Two copies of the version the research linked to Triglycerides in very large HDL. That is the strongest link of the three results. A link in a study is not a diagnosis.
A/G One copy of the version the research linked to Triglycerides in very large HDL. That is a smaller link than two copies.
G/G No copy of the version the research linked to Triglycerides in very large HDL. This is the starting point the study compared everyone against.
Source

Quoting this page

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Triglycerides in very large HDL (rs60146811). MyGeneLog™. https://www.mygenelog.com/variants/rs60146811

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