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Standard

DPEP1 protein levels

CBFA2T3 · rs564705

Strength of the evidence

2 / 4

Its strongest genetic-study result is p = 10−30, 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 G allele shifted the measure 0.0495 lower (95% confidence interval 0.04-0.059); p = 2 × 10−30.

How common The G allele had a frequency of about 79% in the people studied.

Where it sits Chromosome 16, band 16q24.3 — in an intron of CBFA2T3.

How common each version is

AG
Korean KRGDB
A 6.1% · G 93.9%
Korean Korea4K
A 6.8% · G 93.2%
Japanese ToMMo
A 5.3% · G 94.7%
Vietnamese
A 22.2% · G 77.8%
World gnomAD
A 14.1% · G 85.9%
World 1000 Genomes
A 10.9% · G 89.1%
World TOPMed
A 12.9% · G 87.1%

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 No copy of the version the research linked to DPEP1 protein levels. This is the starting point the study compared everyone against.
A/G One copy of the version the research linked to DPEP1 protein levels. That is a smaller link than two copies.
G/G Two copies of the version the research linked to DPEP1 protein levels. That is the strongest link of the three results. A link in a study is not a diagnosis.
Source

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DPEP1 protein levels (rs564705). MyGeneLog™. https://www.mygenelog.com/variants/rs564705

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