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Standard

Height (baseline)

CBFA2T3 · rs555191

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−13, 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 405,540 European ancestry individuals.

The effect Each copy of the C allele shifted the measure 0.00989 higher (95% confidence interval 0.0073-0.0125); p = 2 × 10−13.

How common The C allele had a frequency of about 66% in the people studied.

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

How common each version is

CT
Korean KRGDB
C 76.7% · T 23.3%
Korean Korea4K
C 75.9% · T 24.1%
Korean Korea1K
C 75.8% · T 24.2%
Japanese ToMMo
C 72.8% · T 27.2%
Vietnamese
C 70.6% · T 29.4%
World gnomAD
C 69.5% · T 30.5%
World 1000 Genomes
C 71.0% · T 29.0%
World TOPMed
C 69.2% · T 30.8%

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

C/C Two copies of the version the research linked to Height (baseline). That is the strongest link of the three results. A link in a study is not a diagnosis.
C/T One copy of the version the research linked to Height (baseline). That is a smaller link than two copies.
T/T No copy of the version the research linked to Height (baseline). This is the starting point the study compared everyone against.
Source

Quoting this page

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Height (baseline) (rs555191). MyGeneLog™. https://www.mygenelog.com/variants/rs555191

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