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Standard

Height

LTBP1 · rs3769528

Strength of the evidence

3 / 4

Its strongest genetic-study result is p = 10−67, with 5 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 472,730 East Asian ancestry individuals.

The effect Each copy of the G allele shifted the measure 0.0559 lower (95% confidence interval 0.05-0.062); p = 2 × 10−67.

How common The G allele had a frequency of about 17% in the people studied.

Where it sits Chromosome 2, band 2p22.3 — in an intron of LTBP1.

How common each version is

AG
Korean KRGDB
A 81.5% · G 18.5%
Korean Korea4K
A 83.0% · G 17.0%
Japanese ToMMo
A 85.1% · G 14.9%
Vietnamese
A 87.5% · G 12.5%
World gnomAD
A 98.6% · G 1.4%
World 1000 Genomes
A 94.2% · G 5.8%
World TOPMed
A 98.5% · G 1.5%

By ancestry gnomAD

East Asian
A 83.3% · G 16.7%
European (non-Finnish)
A 99.9%
African / African American
A 99.1% · G 0.9%
South Asian
A 90.3% · G 9.7%
Admixed American (Latino)
A 98.5% · G 1.5%
Middle Eastern
A 98.6% · G 1.4%
Finnish
A 99.9%
Ashkenazi Jewish
A 99.9%

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. The ancestry rows are gnomAD's own groups (via Ensembl), as the survey defines them, not races.

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 (rs3769528). MyGeneLog™. https://www.mygenelog.com/variants/rs3769528

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