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Standard

Peflin levels

APOB · rs12691188

Strength of the evidence

3 / 4

Its strongest genetic-study result is p = 10−268, 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 10,708 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 1.57 higher (95% confidence interval 1.48-1.65); p = 2 × 10−268.

How common The A allele had a frequency of about 98% in the people studied.

Where it sits Chromosome 2, band 2p24.1 — in an intron of APOB.

How common each version is

AG
Korean KRGDB
A 96.8% · G 3.2%
Korean Korea4K
A 96.8% · G 3.2%
Japanese ToMMo
A 95.3% · G 4.7%
World gnomAD
A 94.6% · G 5.4%
World 1000 Genomes
A 93.8% · G 6.2%
World TOPMed
A 93.4% · G 6.6%

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

A/A Two copies of the version the research linked to Peflin levels. That is the strongest link of the three results. A link in a study is not a diagnosis.
A/G One copy of the version the research linked to Peflin levels. That is a smaller link than two copies.
G/G No copy of the version the research linked to Peflin levels. This is the starting point the study compared everyone against.
Source

Quoting this page

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Peflin levels (rs12691188). MyGeneLog™. https://www.mygenelog.com/variants/rs12691188

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