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Standard

Height (baseline)

near NCL · rs12992177

Strength of the evidence

2 / 4

Its strongest genetic-study result is p = 10−21, 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 405,540 European ancestry individuals.

The effect Each copy of the C allele shifted the measure 0.0199 higher (95% confidence interval 0.016-0.024); p = 3 × 10−21.

How common The C allele had a frequency of about 89% in the people studied.

Where it sits Chromosome 2, band 2q37.1 — between genes, 5.3 kb from NCL.

How common each version is

CG
Korean KRGDB
C 92.2% · G 7.8%
Korean Korea4K
C 92.1% · G 7.9%
Korean Korea1K
C 91.5% · G 8.5%
Japanese ToMMo
C 92.5% · G 7.4%
Vietnamese
C 95.8% · G 4.2%
World gnomAD
C 92.8% · G 7.2%
World 1000 Genomes
C 94.2% · G 5.9%
World TOPMed
C 93.0% · G 7.0%

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/G One copy of the version the research linked to Height (baseline). That is a smaller link than two copies.
G/G 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) (rs12992177). MyGeneLog™. https://www.mygenelog.com/variants/rs12992177

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