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Standard

Total cholesterol levels

ERGIC3 · rs7264396

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−11, 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 32,576 East Asian ancestry individuals, 187,365 European ancestry individuals; replicated in 10,855 Chinese ancestry individuals.

The effect Each copy of the T allele shifted the measure 0.0313 lower (95% confidence interval 0.023-0.04); p = 4 × 10−12.

How common The T allele had a frequency of about 22% in the people studied.

Where it sits Chromosome 20, band 20q11.22 — in an intron of FER1L4.

How common each version is

CT
Korean KRGDB
C 82.1% · T 17.9%
Korean Korea4K
C 82.6% · T 17.4%
Japanese ToMMo
C 83.2% · T 16.8%
Vietnamese
C 69.3% · T 30.7%
World gnomAD
C 71.6% · T 28.4%
World 1000 Genomes
C 67.4% · T 32.6%
World TOPMed
C 71.3% · T 28.7%

By ancestry gnomAD

East Asian
C 77.8% · T 22.2%
European (non-Finnish)
C 77.4% · T 22.6%
African / African American
C 62.8% · T 37.2%
South Asian
C 52.2% · T 47.8%
Admixed American (Latino)
C 69.9% · T 30.1%
Middle Eastern
C 58.8% · T 41.2%
Finnish
C 79.9% · T 20.1%
Ashkenazi Jewish
C 65.3% · T 34.7%

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 Total cholesterol levels. This is the starting point the study compared everyone against.
C/T One copy of the version the research linked to Total cholesterol levels. That is a smaller link than two copies.
T/T Two copies of the version the research linked to Total cholesterol levels. 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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Total cholesterol levels (rs7264396). MyGeneLog™. https://www.mygenelog.com/variants/rs7264396

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