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Standard

Triglycerides in VLDL

near VPS13C · rs12440800

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−13, with 17 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 0.02 mmol/L lower (95% confidence interval 0.02-0.02); p = 1 × 10−12.

Where it sits Chromosome 15, band 15q22.2 — between genes, 44.9 kb from LINC02349.

How common each version is

AT
Korean KRGDB
A 77.0% · T 23.0%
Korean Korea4K
A 77.1% · T 22.9%
Japanese ToMMo
A 79.9% · T 20.1%
Vietnamese
A 73.6% · T 26.4%
World gnomAD
A 71.5% · T 28.5%
World 1000 Genomes
A 70.2% · T 29.8%
World TOPMed
A 69.5% · T 30.5%

By ancestry gnomAD

East Asian
A 73.8% · T 26.2%
European (non-Finnish)
A 73.5% · T 26.5%
African / African American
A 67.5% · T 32.5%
South Asian
A 73.0% · T 27.0%
Admixed American (Latino)
A 65.7% · T 34.3%
Middle Eastern
A 72.8% · T 27.2%
Finnish
A 80.4% · T 19.6%
Ashkenazi Jewish
A 72.7% · T 27.3%

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

A/A No copy of the version the research linked to Triglycerides in VLDL. This is the starting point the study compared everyone against.
A/T One copy of the version the research linked to Triglycerides in VLDL. That is a smaller link than two copies.
T/T Two copies of the version the research linked to Triglycerides in 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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Triglycerides in VLDL (rs12440800). MyGeneLog™. https://www.mygenelog.com/variants/rs12440800

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