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Standard

Concentration of small LDL particles

near GLI2 · rs17050272

Strength of the evidence

2 / 4

Its strongest genetic-study result is p = 10−41, with 87 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 A allele shifted the measure 0.01 mmol/L lower (95% confidence interval 0.01-0.01); p = 2 × 10−11.

Where it sits Chromosome 2, band 2q14.2 — between genes, 82.3 kb from LINC01101.

How common each version is

AG
Korean KRGDB
A 49.8% · G 50.2%
Korean Korea4K
A 49.6% · G 50.4%
Korean Korea1K
A 49.2% · G 50.8%
Japanese ToMMo
A 48.3% · G 51.7%
Vietnamese
A 37.1% · G 62.9%
World gnomAD
A 33.5% · G 66.5%
World 1000 Genomes
A 30.9% · G 69.1%
World TOPMed
A 31.8% · G 68.2%

By ancestry gnomAD

East Asian
A 47.0% · G 53.0%
European (non-Finnish)
A 42.0% · G 58.0%
African / African American
A 9.7% · G 90.3%
South Asian
A 30.0% · G 70.0%
Admixed American (Latino)
A 40.7% · G 59.3%
Middle Eastern
A 35.7% · G 64.3%
Finnish
A 55.2% · G 44.8%
Ashkenazi Jewish
A 36.7% · G 63.3%

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 Concentration of small LDL particles. 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 Concentration of small LDL particles. That is a smaller link than two copies.
G/G No copy of the version the research linked to Concentration of small LDL particles. This is the starting point the study compared everyone against.
Source

Quoting this page

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Concentration of small LDL particles (rs17050272). MyGeneLog™. https://www.mygenelog.com/variants/rs17050272

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