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Standard

Body shape phenotype PC3

ROBO1 · rs4681011

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−12, 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 460,198 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.0134 higher (95% confidence interval 0.0097-0.017); p = 8 × 10−13.

How common The A allele had a frequency of about 37% in the people studied.

Where it sits Chromosome 3, band 3p12.3 — in an intron of ROBO1.

How common each version is

AC
Korean KRGDB
A 25.1% · C 74.9%
Korean Korea4K
A 25.5% · C 74.5%
Japanese ToMMo
A 30.5% · C 69.5%
World gnomAD
A 38.5% · C 61.5%
World 1000 Genomes
A 35.4% · C 64.6%
World TOPMed
A 39.3% · C 60.7%

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 Body shape phenotype PC3. That is the strongest link of the three results. A link in a study is not a diagnosis.
A/C One copy of the version the research linked to Body shape phenotype PC3. That is a smaller link than two copies.
C/C No copy of the version the research linked to Body shape phenotype PC3. This is the starting point the study compared everyone against.
Source

Quoting this page

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Body shape phenotype PC3 (rs4681011). MyGeneLog™. https://www.mygenelog.com/variants/rs4681011

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