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Standard

Height

near CDC5L · rs3997520

Strength of the evidence

3 / 4

Its strongest genetic-study result is p = 10−58, 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 5,314,291 European ancestry, Hispanic or Latin American, East Asian ancestry, African ancestry, South Asian ancestry individuals.

The effect Each copy of the G allele shifted the measure 0.0103 higher (95% confidence interval 0.0091-0.0115); p = 3 × 10−58.

How common The G allele had a frequency of about 45% in the people studied.

Where it sits Chromosome 6, band 6p21.1 — between genes, 133.3 kb from CDC5L.

How common each version is

AG
Korean KRGDB
A 98.1% · G 1.9%
Korean Korea4K
A 98.0% · G 2.0%
Japanese ToMMo
A 94.7% · G 5.3%
Vietnamese
A 96.3% · G 3.7%
World gnomAD
A 46.7% · G 53.3%
World 1000 Genomes
A 56.8% · G 43.2%
World TOPMed
A 45.2% · G 54.8%

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 Height. This is the starting point the study compared everyone against.
A/G One copy of the version the research linked to Height. That is a smaller link than two copies.
G/G Two copies of the version the research linked to Height. 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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Height (rs3997520). MyGeneLog™. https://www.mygenelog.com/variants/rs3997520

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