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Free Cholesterol to Total Lipids in Chylomicrons and Extremely Large VLDL percentage

USP1 · rs11207970

Strength of the evidence

3 / 4

Its strongest genetic-study result is p = 10−96, 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 % higher (95% confidence interval 0.02-0.02); p = 2 × 10−19.

Where it sits Chromosome 1, band 1p31.3 — in an intron of USP1.

How common each version is

CT
Korean KRGDB
C 82.8% · T 17.2%
Korean Korea4K
C 82.9% · T 17.1%
Japanese ToMMo
C 85.2% · T 14.8%
Vietnamese
C 79.9% · T 20.1%
World gnomAD
C 65.5% · T 34.5%
World 1000 Genomes
C 66.0% · T 34.0%
World TOPMed
C 64.7% · T 35.3%

By ancestry gnomAD

East Asian
C 80.6% · T 19.4%
European (non-Finnish)
C 66.9% · T 33.1%
African / African American
C 58.3% · T 41.7%
South Asian
C 58.8% · T 41.2%
Admixed American (Latino)
C 66.2% · T 33.8%
Middle Eastern
C 77.9% · T 22.1%
Finnish
C 75.0% · T 25.0%
Ashkenazi Jewish
C 77.0% · T 23.0%

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 Free Cholesterol 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 Free Cholesterol 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 Free Cholesterol 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

Quoting this page

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Free Cholesterol to Total Lipids in Chylomicrons and Extremely Large VLDL percentage (rs11207970). MyGeneLog™. https://www.mygenelog.com/variants/rs11207970

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