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Standard

Refractive error

near PLCL1 · rs897399

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−8, 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 1,495,159 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.00877 SD unit lower (95% confidence interval 0.0058-0.0117); p = 7 × 10−9.

How common The A allele had a frequency of about 52% in the people studied.

Where it sits Chromosome 2, band 2q33.1 — between genes, 62.7 kb from PLCL1.

How common each version is

AG
Korean KRGDB
A 55.7% · G 44.3%
Korean Korea4K
A 56.7% · G 43.3%
Japanese ToMMo
A 56.8% · G 43.2%
Vietnamese
A 63.5% · G 36.4%
World gnomAD
A 60.8% · G 39.2%
World 1000 Genomes
A 65.9% · G 34.1%
World TOPMed
A 62.6% · G 37.4%

By ancestry gnomAD

East Asian
A 61.0% · G 39.0%
European (non-Finnish)
A 55.6% · G 44.4%
African / African American
A 74.3% · G 25.7%
South Asian
A 70.7% · G 29.3%
Admixed American (Latino)
A 55.9% · G 44.1%
Middle Eastern
A 60.3% · G 39.7%
Finnish
A 45.8% · G 54.2%
Ashkenazi Jewish
A 53.0% · G 47.0%

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

Quoting this page

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Refractive error (rs897399). MyGeneLog™. https://www.mygenelog.com/variants/rs897399

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