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Standard

LDL cholesterol

near OTX2P1 · rs998974

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−8, 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 343,621 European ancestry individuals, 72,866 East Asian ancestry individuals.

The effect Each copy of the C allele shifted the measure 0.0127 higher (95% confidence interval 0.0084-0.017); p = 1 × 10−8.

Where it sits Chromosome 9, band 9q21.13 — between genes, 125.4 kb from OTX2P1.

How common each version is

CT
Korean KRGDB
C 16.9% · T 83.1%
Korean Korea4K
C 17.6% · T 82.4%
Korean Korea1K
C 19.1% · T 81.0%
Japanese ToMMo
C 20.5% · T 79.5%
Vietnamese
C 16.2% · T 83.8%
World gnomAD
C 35.3% · T 64.7%
World 1000 Genomes
C 28.3% · T 71.7%
World TOPMed
C 35.4% · T 64.6%

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.

What each result means

C/C Two copies of the version the research linked to LDL cholesterol. That is the strongest link of the three results. A link in a study is not a diagnosis.
C/T One copy of the version the research linked to LDL cholesterol. That is a smaller link than two copies.
T/T No copy of the version the research linked to LDL cholesterol. This is the starting point the study compared everyone against.
Source

Quoting this page

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LDL cholesterol (rs998974). MyGeneLog™. https://www.mygenelog.com/variants/rs998974

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