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Standard

Free Cholesterol to Cholesteryl Esters in Very Large HDL ratio

near DYRK1A · rs73220444

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−8, 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 98,316 European ancestry individuals.

The effect Each copy of the T allele shifted the measure 0.631 higher (95% confidence interval 0.42-0.84); p = 4 × 10−9.

How common The T allele had a frequency of about 1% in the people studied.

Where it sits Chromosome 21, band 21q22.13 — between genes, 17.7 kb from DYRK1A.

How common each version is

GT
World gnomAD
G 99.3% · T 0.7%
World 1000 Genomes
G 99.7% · T 0.3%
World TOPMed
G 99.5% · T 0.5%

By ancestry gnomAD

East Asian
G 100.0%
European (non-Finnish)
G 98.8% · T 1.2%
African / African American
G 99.8%
South Asian
G 99.9%
Admixed American (Latino)
G 99.9%
Finnish
G 98.8% · T 1.2%

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. No Korean figure for this position yet.

What each result means

G/G No copy of the version the research linked to Free Cholesterol to Cholesteryl Esters in Very Large HDL ratio. This is the starting point the study compared everyone against.
G/T One copy of the version the research linked to Free Cholesterol to Cholesteryl Esters in Very Large HDL ratio. That is a smaller link than two copies.
T/T Two copies of the version the research linked to Free Cholesterol to Cholesteryl Esters in Very Large HDL ratio. 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 to Cholesteryl Esters in Very Large HDL ratio (rs73220444). MyGeneLog™. https://www.mygenelog.com/variants/rs73220444

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