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Standard

Cholesterol levels in very small VLDL

ANKS1A · rs12525532

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−13, with 4 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 × 10−13.

Where it sits Chromosome 6, band 6p21.31 — in an intron of ANKS1A.

How common each version is

CT
Korean KRGDB
C 60.5% · T 39.5%
Korean Korea4K
C 58.6% · T 41.4%
Korean Korea1K
C 58.9% · T 41.1%
Japanese ToMMo
C 60.0% · T 40.1%
Vietnamese
C 75.0% · T 25.0%
World gnomAD
C 66.9% · T 33.1%
World 1000 Genomes
C 68.7% · T 31.3%
World TOPMed
C 68.5% · T 31.5%

By ancestry gnomAD

East Asian
C 73.0% · T 27.0%
European (non-Finnish)
C 61.2% · T 38.8%
African / African American
C 81.7% · T 18.3%
South Asian
C 59.0% · T 41.0%
Admixed American (Latino)
C 62.7% · T 37.3%
Middle Eastern
C 55.4% · T 44.6%
Finnish
C 52.9% · T 47.1%
Ashkenazi Jewish
C 67.0% · T 33.0%

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 small 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 small VLDL. That is a smaller link than two copies.
T/T 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 (rs12525532). MyGeneLog™. https://www.mygenelog.com/variants/rs12525532

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