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Standard

Cholesteryl Esters to Total Lipids in Chylomicrons and Extremely Large VLDL percentage

CCDC12 · rs13092573

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−19, with 15 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 % lower (95% confidence interval 0.02-0.02); p = 1 × 10−19.

Where it sits Chromosome 3, band 3p21.31 — in an intron of CCDC12.

How common each version is

CT
Korean KRGDB
C 76.8% · T 23.2%
Korean Korea4K
C 76.2% · T 23.8%
Korean Korea1K
C 77.0% · T 23.0%
Japanese ToMMo
C 72.9% · T 27.1%
Vietnamese
C 77.8% · T 22.2%
World gnomAD
C 71.4% · T 28.6%
World 1000 Genomes
C 73.0% · T 27.0%
World TOPMed
C 72.4% · T 27.6%

By ancestry gnomAD

East Asian
C 74.0% · T 26.0%
European (non-Finnish)
C 65.7% · T 34.3%
African / African American
C 83.0% · T 17.0%
South Asian
C 65.6% · T 34.4%
Admixed American (Latino)
C 69.2% · T 30.8%
Middle Eastern
C 75.3% · T 24.7%
Finnish
C 67.5% · T 32.5%
Ashkenazi Jewish
C 71.6% · T 28.4%

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

C/C No copy of the version the research linked to Cholesteryl Esters to Total Lipids in Chylomicrons and Extremely Large VLDL percentage. This is the starting point the study compared everyone against.
C/T One copy of the version the research linked to Cholesteryl Esters to Total Lipids in Chylomicrons and Extremely Large VLDL percentage. That is a smaller link than two copies.
T/T Two copies of the version the research linked to Cholesteryl Esters to Total Lipids in Chylomicrons and Extremely Large VLDL percentage. That is the strongest link of the three results. A link in a study is not a diagnosis.
Source

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Cholesteryl Esters to Total Lipids in Chylomicrons and Extremely Large VLDL percentage (rs13092573). MyGeneLog™. https://www.mygenelog.com/variants/rs13092573

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