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Standard

Free cholesterol in very large HDL

near PURG · rs11779006

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−12, with 2 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 higher (95% confidence interval 0.01-0.01); p = 1 × 10−12.

Where it sits Chromosome 8, band 8p12 — between genes, 9.6 kb from PURG.

How common each version is

CT
Korean KRGDB
C 11.3% · T 88.7%
Japanese ToMMo
C 9.8% · T 90.2%
World 1000 Genomes
C 27.0% · T 73.0%

By ancestry gnomAD

East Asian
C 9.2% · T 90.8%
European (non-Finnish)
C 57.1% · T 42.9%
African / African American
C 29.8% · T 70.2%
South Asian
C 69.1% · T 30.9%
Admixed American (Latino)
C 49.1% · T 50.9%
Middle Eastern
C 62.5% · T 37.5%
Finnish
C 58.0% · T 42.0%
Ashkenazi Jewish
C 57.0% · T 43.0%

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 Free cholesterol in very large HDL. This is the starting point the study compared everyone against.
C/T One copy of the version the research linked to Free cholesterol in very large HDL. That is a smaller link than two copies.
T/T Two copies of the version the research linked to Free cholesterol 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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Free cholesterol in very large HDL (rs11779006). MyGeneLog™. https://www.mygenelog.com/variants/rs11779006

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