Links from this page to related variants, conditions, drugs and topics are not included for automated readers. Those connections are the Gene Knowledge Graph and are licensed as data: https://www.mygenelog.com/license

Standard

Height

PHF20 · rs6121073

Strength of the evidence

3 / 4

Its strongest genetic-study result is p = 10−300, 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 4,080,687 European ancestry individuals; replicated in 49,160 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.0586 higher (95% confidence interval 0.057-0.06); p = 1 × 10−300.

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

Where it sits Chromosome 20, band 20q11.23 — in an intron of PHF20.

How common each version is

AG
Korean KRGDB
A 15.2% · G 84.8%
Korean Korea4K
A 14.7% · G 85.3%
Korean Korea1K
A 15.2% · G 84.8%
Japanese ToMMo
A 14.0% · G 86.0%
Vietnamese
A 25.0% · G 75.0%
World gnomAD
A 24.9% · G 75.1%
World 1000 Genomes
A 28.8% · G 71.2%
World TOPMed
A 24.8% · G 75.2%

By ancestry gnomAD

East Asian
A 17.4% · G 82.6%
European (non-Finnish)
A 17.5% · G 82.5%
African / African American
A 40.8% · G 59.2%
South Asian
A 36.7% · G 63.3%
Admixed American (Latino)
A 19.8% · G 80.2%
Middle Eastern
A 29.6% · G 70.4%
Finnish
A 16.5% · G 83.5%
Ashkenazi Jewish
A 20.5% · G 79.5%

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 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.
A/G One copy of the version the research linked to Height. That is a smaller link than two copies.
G/G No copy of the version the research linked to Height. This is the starting point the study compared everyone against.
Source

Quoting this page

Licensed CC BY-NC 4.0: free to read, share and adapt for non-commercial use, naming MyGeneLog™ and linking the exact page. Commercial use, including training or serving a commercial AI system, needs a licence — https://www.mygenelog.com/license

Height (rs6121073). MyGeneLog™. https://www.mygenelog.com/variants/rs6121073

← See all variants