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Standard

Phospholipids in very small VLDL

near GSTA2 · rs4715316

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−17, with 8 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 = 5 × 10−18.

Where it sits Chromosome 6, band 6p12.2 — between genes, 0.7 kb from GSTA2.

How common each version is

CT
Korean KRGDB
C 16.4% · T 83.5%
Korean Korea4K
C 15.9% · T 84.1%
Korean Korea1K
C 15.9% · T 84.1%
Japanese ToMMo
C 12.8% · T 87.2%
World gnomAD
C 29.9% · T 70.1%
World 1000 Genomes
C 25.2% · T 74.8%
World TOPMed
C 28.3% · T 71.7%

By ancestry gnomAD

East Asian
C 12.7% · T 87.3%
European (non-Finnish)
C 35.4% · T 64.6%
African / African American
C 22.0% · T 78.0%
South Asian
C 33.2% · T 66.8%
Admixed American (Latino)
C 23.8% · T 76.2%
Middle Eastern
C 34.7% · T 65.3%
Finnish
C 38.2% · T 61.8%
Ashkenazi Jewish
C 37.8% · T 62.2%

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 Phospholipids in very small VLDL. This is the starting point the study compared everyone against.
C/T One copy of the version the research linked to Phospholipids in very small VLDL. That is a smaller link than two copies.
T/T Two copies of the version the research linked to Phospholipids 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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Phospholipids in very small VLDL (rs4715316). MyGeneLog™. https://www.mygenelog.com/variants/rs4715316

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