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Standard

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

PATL1 · rs11230036

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−12, with 1 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 0.03 % lower (95% confidence interval 0.03-0.03); p = 2 × 10−12.

Where it sits Chromosome 11, band 11q12.1 — in an intron of PATL1.

How common each version is

CT
Korean KRGDB
C 99.5% · T 0.5%
Korean Korea4K
C 99.5% · T 0.5%
Korean Korea1K
C 99.6% · T 0.4%
Japanese ToMMo
C 99.7% · T 0.3%
Vietnamese
C 96.7% · T 3.3%
World gnomAD
C 90.6% · T 9.4%
World 1000 Genomes
C 91.1% · T 8.9%
World TOPMed
C 90.4% · T 9.6%

By ancestry gnomAD

East Asian
C 97.9% · T 2.1%
European (non-Finnish)
C 95.6% · T 4.4%
African / African American
C 77.7% · T 22.3%
South Asian
C 98.5% · T 1.5%
Admixed American (Latino)
C 96.6% · T 3.4%
Middle Eastern
C 97.6% · T 2.4%
Finnish
C 90.3% · T 9.7%
Ashkenazi Jewish
C 98.9% · T 1.2%

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 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 (rs11230036). MyGeneLog™. https://www.mygenelog.com/variants/rs11230036

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