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Standard

Cholesterol levels in very large HDL

SAR1A · rs7082562

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 434,646 British ancestry individuals, 8,796 British Central/South Asian individuals, 6,573 British African individuals.

The effect Each copy of the G allele shifted the measure 0.01 mmol/L higher (95% confidence interval 0.01-0.01); p = 2 × 10−10.

Where it sits Chromosome 10, band 10q22.1 — between genes, 13.1 kb from RPS25P9.

How common each version is

AG
Korean KRGDB
A 99.9% · G 0.1%
Korean Korea4K
A 99.9% · G 0.1%
Korean Korea1K
A 100.0% · G 0.1%
Japanese ToMMo
A 100.0% · G 0.0%
Vietnamese
A 97.7% · G 2.3%
World gnomAD
A 62.7% · G 37.3%
World 1000 Genomes
A 69.5% · G 30.5%
World TOPMed
A 63.9% · G 36.1%

By ancestry gnomAD

East Asian
A 99.6%
European (non-Finnish)
A 63.7% · G 36.3%
African / African American
A 53.0% · G 47.0%
South Asian
A 71.6% · G 28.4%
Admixed American (Latino)
A 72.8% · G 27.2%
Middle Eastern
A 69.0% · G 30.9%
Finnish
A 53.9% · G 46.1%
Ashkenazi Jewish
A 74.5% · G 25.5%

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 No copy of the version the research linked to Cholesterol levels in very large HDL. This is the starting point the study compared everyone against.
A/G One copy of the version the research linked to Cholesterol levels in very large HDL. That is a smaller link than two copies.
G/G Two copies of the version the research linked to Cholesterol levels in very large HDL. 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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Cholesterol levels in very large HDL (rs7082562). MyGeneLog™. https://www.mygenelog.com/variants/rs7082562

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