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Standard

Triglycerides in very large HDL

near PAQR9 · rs4683708

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−11, 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 lower (95% confidence interval 0.01-0.01); p = 4 × 10−12.

Where it sits Chromosome 3, band 3q23 — in an intron of HLMR1.

How common each version is

CT
Korean KRGDB
C 47.6% · T 52.3%
Korean Korea4K
C 45.2% · T 54.8%
Korean Korea1K
C 43.8% · T 56.2%
Japanese ToMMo
C 52.1% · T 47.9%
Vietnamese
C 56.6% · T 43.4%
World gnomAD
C 41.8% · T 58.2%
World 1000 Genomes
C 46.2% · T 53.8%
World TOPMed
C 41.7% · T 58.3%

By ancestry gnomAD

East Asian
C 50.7% · T 49.3%
European (non-Finnish)
C 46.5% · T 53.5%
African / African American
C 31.2% · T 68.8%
South Asian
C 60.3% · T 39.7%
Admixed American (Latino)
C 45.6% · T 54.4%
Middle Eastern
C 48.6% · T 51.4%
Finnish
C 35.4% · T 64.6%
Ashkenazi Jewish
C 38.3% · T 61.7%

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

C/C No copy of the version the research linked to Triglycerides 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 Triglycerides in very large HDL. That is a smaller link than two copies.
T/T Two copies of the version the research linked to Triglycerides 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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Triglycerides in very large HDL (rs4683708). MyGeneLog™. https://www.mygenelog.com/variants/rs4683708

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