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Standard

Refractive error

near ERLIN1 · rs10883448

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 0.009 SD unit lower (95% confidence interval 0.006-0.012); p = 7 × 10−9.

How common The A allele had a frequency of about 38% in the people studied.

Where it sits Chromosome 10, band 10q24.31 — between genes, 0.6 kb from SPCS2P2.

How common each version is

AG
Korean KRGDB
A 15.7% · G 84.3%
Korean Korea4K
A 14.9% · G 85.1%
Japanese ToMMo
A 13.3% · G 86.7%
Vietnamese
A 15.7% · G 84.3%
World gnomAD
A 39.2% · G 60.8%
World 1000 Genomes
A 31.8% · G 68.2%
World TOPMed
A 40.3% · G 59.7%

By ancestry gnomAD

East Asian
A 15.6% · G 84.4%
European (non-Finnish)
A 40.8% · G 59.2%
African / African American
A 42.4% · G 57.6%
South Asian
A 22.4% · G 77.6%
Admixed American (Latino)
A 42.5% · G 57.5%
Middle Eastern
A 40.5% · G 59.5%
Finnish
A 33.5% · G 66.5%
Ashkenazi Jewish
A 32.5% · G 67.5%

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 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 (rs10883448). MyGeneLog™. https://www.mygenelog.com/variants/rs10883448

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