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Standard

Free cholesterol in small VLDL

CATSPER2 · rs141866277

Strength of the evidence

3 / 4

Its strongest genetic-study result is p = 10−130, with 45 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 0.06 mmol/L lower (95% confidence interval 0.04-0.08); p = 2 × 10−17.

Where it sits Chromosome 15, band 15q15.3 — inside CATSPER2.

How common each version is

AT
Japanese ToMMo
A 100.0% · T 0.0%
World gnomAD
A 98.3% · T 1.7%
World 1000 Genomes
A 99.1% · T 0.9%
World TOPMed
A 98.1% · T 1.9%

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. No Korean figure for this position yet.

What each result means

A/A No copy of the version the research linked to Free cholesterol in small VLDL. This is the starting point the study compared everyone against.
A/T One copy of the version the research linked to Free cholesterol in small VLDL. That is a smaller link than two copies.
T/T Two copies of the version the research linked to Free cholesterol in 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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Free cholesterol in small VLDL (rs141866277). MyGeneLog™. https://www.mygenelog.com/variants/rs141866277

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