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Standard

Total cholesterol levels

PHLDB1 · rs17122278

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−10, 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 A allele shifted the measure 0.0465 lower (95% confidence interval 0.029-0.064); p = 9 × 10−8.

How common The A allele had a frequency of about 53% in the people studied.

Where it sits Chromosome 11, band 11q23.3 — in an intron of ARCN1.

How common each version is

AG
Korean KRGDB
A 57.2% · G 42.8%
Korean Korea4K
A 58.0% · G 42.0%
Korean Korea1K
A 58.4% · G 41.6%
Japanese ToMMo
A 57.0% · G 43.0%
Vietnamese
A 46.7% · G 53.3%
World gnomAD
A 88.4% · G 11.6%
World 1000 Genomes
A 78.1% · G 21.9%
World TOPMed
A 89.7% · G 10.3%

By ancestry gnomAD

East Asian
A 48.6% · G 51.4%
European (non-Finnish)
A 87.4% · G 12.6%
African / African American
A 97.4% · G 2.6%
South Asian
A 66.9% · G 33.1%
Admixed American (Latino)
A 92.5% · G 7.5%
Middle Eastern
A 88.1% · G 11.9%
Finnish
A 83.9% · G 16.1%
Ashkenazi Jewish
A 86.3% · G 13.7%

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

A/A 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.
A/G One copy of the version the research linked to Total cholesterol levels. That is a smaller link than two copies.
G/G No copy of the version the research linked to Total cholesterol levels. This is the starting point the study compared everyone against.
Source

Quoting this page

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Total cholesterol levels (rs17122278). MyGeneLog™. https://www.mygenelog.com/variants/rs17122278

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