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Standard

Low density lipoprotein cholesterol levels

EHBP1 · rs4671050

Strength of the evidence

2 / 4

Its strongest genetic-study result is p = 10−37, with 5 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 0.0224 lower (95% confidence interval 0.019-0.025); p = 6 × 10−38.

How common The T allele had a frequency of about 32% in the people studied.

Where it sits Chromosome 2, band 2p15 — in an intron of EHBP1.

How common each version is

GT
Korean KRGDB
G 77.6% · T 22.4%
Korean Korea4K
G 76.4% · T 23.6%
Korean Korea1K
G 76.0% · T 24.0%
Japanese ToMMo
G 80.7% · T 19.3%
Vietnamese
G 77.3% · T 22.7%
World gnomAD
G 66.8% · T 33.2%
World 1000 Genomes
G 70.2% · T 29.8%
World TOPMed
G 66.8% · T 33.2%

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.

What each result means

G/G No copy of the version the research linked to Low density lipoprotein cholesterol levels. This is the starting point the study compared everyone against.
G/T One copy of the version the research linked to Low density lipoprotein cholesterol levels. That is a smaller link than two copies.
T/T Two copies of the version the research linked to Low 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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Low density lipoprotein cholesterol levels (rs4671050). MyGeneLog™. https://www.mygenelog.com/variants/rs4671050

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