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Standard

High density lipoprotein cholesterol levels

CHLSN · rs34409228

Strength of the evidence

2 / 4

Its strongest genetic-study result is p = 10−24, with 4 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 1,320,016 European ancestry individuals.

The effect Each copy of the T allele shifted the measure 0.0283 higher (95% confidence interval 0.024-0.032); p = 1 × 10−24.

How common The T allele had a frequency of about 13% in the people studied.

Where it sits Chromosome 7, band 7p22.3 — in an intron of CHLSN.

How common each version is

CT
Korean KRGDB
C 99.9% · T 0.1%
World gnomAD
C 90.1% · T 9.9%
World 1000 Genomes
C 94.2% · T 5.8%
World TOPMed
C 90.7% · T 9.3%

By ancestry gnomAD

East Asian
C 100.0%
European (non-Finnish)
C 86.3% · T 13.7%
African / African American
C 96.5% · T 3.5%
South Asian
C 89.5% · T 10.5%
Admixed American (Latino)
C 90.7% · T 9.3%
Middle Eastern
C 78.9% · T 21.1%
Finnish
C 87.9% · T 12.1%
Ashkenazi Jewish
C 79.0% · T 21.0%

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 High density lipoprotein cholesterol levels. This is the starting point the study compared everyone against.
C/T One copy of the version the research linked to High density lipoprotein cholesterol levels. That is a smaller link than two copies.
T/T Two copies of the version the research linked to High density lipoprotein cholesterol levels. 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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High density lipoprotein cholesterol levels (rs34409228). MyGeneLog™. https://www.mygenelog.com/variants/rs34409228

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