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Standard

Body shape phenotype PC1

CPNE4 · rs376422625

Strength of the evidence

2 / 4

Its strongest genetic-study result is p = 10−22, 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 460,198 European ancestry individuals.

The effect Each copy of the T allele shifted the measure 0.0453 lower (95% confidence interval 0.036-0.054); p = 2 × 10−22.

How common The T allele had a frequency of about 73% in the people studied.

Where it sits Chromosome 3, band 3q22.1 — in an intron of CPNE4.

How common each version is

CT
Korean KRGDB
C 9.0% · T 91.0%
Korean Korea4K
C 8.2% · T 91.8%
Japanese ToMMo
C 13.1% · T 86.9%
World gnomAD
C 20.2% · T 79.8%
World 1000 Genomes
C 15.6% · T 84.4%

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

C/C No copy of the version the research linked to Body shape phenotype PC1. This is the starting point the study compared everyone against.
C/T One copy of the version the research linked to Body shape phenotype PC1. That is a smaller link than two copies.
T/T Two copies of the version the research linked to Body shape phenotype PC1. 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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Body shape phenotype PC1 (rs376422625). MyGeneLog™. https://www.mygenelog.com/variants/rs376422625

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