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Standard

MEP1B protein levels

GAREM1 · rs554521234

Strength of the evidence

3 / 4

Its strongest genetic-study result is p = 10−72, 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 47,745 European ancestry individuals.

The effect Each copy of the T allele shifted the measure 0.342 higher (95% confidence interval 0.3-0.39); p = 7 × 10−73.

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

Where it sits Chromosome 18, band 18q12.1 — inside GAREM1.

How common each version is

CT
Japanese ToMMo
C 100.0%
World gnomAD
C 98.9% · T 1.1%
World 1000 Genomes
C 99.2% · T 0.8%
World TOPMed
C 99.1% · T 0.9%

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. No Korean figure for this position yet.

What each result means

C/C No copy of the version the research linked to MEP1B protein levels. This is the starting point the study compared everyone against.
C/T One copy of the version the research linked to MEP1B protein levels. That is a smaller link than two copies.
T/T Two copies of the version the research linked to MEP1B protein 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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MEP1B protein levels (rs554521234). MyGeneLog™. https://www.mygenelog.com/variants/rs554521234

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