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Standard

Concentration of very large HDL particles

near OTOL1 · rs28802383

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−11, with 5 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 0.01 mmol/L lower (95% confidence interval 0.01-0.01); p = 2 × 10−10.

Where it sits Chromosome 3, band 3q26.1 — between genes, 247.1 kb from OTOL1.

How common each version is

CT
Korean KRGDB
C 70.4% · T 29.6%
Japanese ToMMo
C 73.7% · T 26.3%
World gnomAD
C 64.3% · T 35.7%
World 1000 Genomes
C 66.5% · T 33.6%
World TOPMed
C 64.5% · T 35.5%

By ancestry gnomAD

East Asian
C 74.2% · T 25.9%
European (non-Finnish)
C 55.9% · T 44.1%
African / African American
C 83.1% · T 16.9%
South Asian
C 51.9% · T 48.1%
Admixed American (Latino)
C 54.2% · T 45.8%
Middle Eastern
C 54.4% · T 45.6%
Finnish
C 63.9% · T 36.1%
Ashkenazi Jewish
C 51.8% · T 48.1%

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 Concentration of very large HDL particles. This is the starting point the study compared everyone against.
C/T One copy of the version the research linked to Concentration of very large HDL particles. That is a smaller link than two copies.
T/T Two copies of the version the research linked to Concentration of very large HDL particles. 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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Concentration of very large HDL particles (rs28802383). MyGeneLog™. https://www.mygenelog.com/variants/rs28802383

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