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Standard

Height

CREBRF · rs251248

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 455,180 Hispanic or Latin American individuals.

The effect Each copy of the G allele shifted the measure 0.025 lower (95% confidence interval 0.021-0.029); p = 7 × 10−31.

How common The G allele had a frequency of about 47% in the people studied.

Where it sits Chromosome 5, band 5q35.1 — in an intron of CREBRF.

How common each version is

AG
Korean KRGDB
A 82.9% · G 17.1%
Korean Korea4K
A 82.7% · G 17.3%
Japanese ToMMo
A 84.1% · G 15.9%
Vietnamese
A 79.5% · G 20.5%
World gnomAD
A 51.4% · G 48.6%
World 1000 Genomes
A 63.8% · G 36.2%
World TOPMed
A 53.2% · G 46.8%

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 (rs251248). MyGeneLog™. https://www.mygenelog.com/variants/rs251248

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