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Facial morphology (factor 9, facial height related to vertical position of nasion)

PARK2 · rs9456748

Stands on its own. Nothing else here links to this position yet — but the page above is the point: what the research found, what each genotype means, and where it came from, in language you can read. Links to conditions, drugs and the senses appear automatically if we write them.

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−7, 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 2,187 European ancestry individuals.

The effect Each copy of the G allele shifted the measure 0.165 higher (95% confidence interval 0.11-0.22); p = 5 × 10−8.

How common The G allele had a frequency of about 44% in the people studied.

Where it sits Chromosome 6, band 6q26 — in an intron of PRKN.

How common each version is

AG
Korean KRGDB
A 27.0% · G 73.0%
Korean Korea4K
A 25.4% · G 74.6%
Korean Korea1K
A 24.3% · G 75.7%
Japanese ToMMo
A 27.7% · G 72.3%
Vietnamese
A 25.9% · G 74.1%
World gnomAD
A 41.0% · G 59.0%
World 1000 Genomes
A 31.7% · G 68.3%
World TOPMed
A 39.8% · G 60.2%

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 Facial morphology (factor 9, facial height related to vertical position of nasion). This is the starting point the study compared everyone against.
A/G One copy of the version the research linked to Facial morphology (factor 9, facial height related to vertical position of nasion). That is a smaller link than two copies.
G/G Two copies of the version the research linked to Facial morphology (factor 9, facial height related to vertical position of nasion). That is the strongest link of the three results. A link in a study is not a diagnosis.
Source
Genome-wide association study of facial morphology reveals novel associations with FREM1 and PARK2
Lee MK, Shaffer JR, Leslie EJ, Orlova E, Carlson JC, Feingold E, Marazita ML, Weinberg SM
PloS one · 2017 · PMID 28441456 · open access

Quoting this page

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Facial morphology (factor 9, facial height related to vertical position of nasion) (rs9456748). MyGeneLog™. https://www.mygenelog.com/variants/rs9456748

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