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Standard

Refractive error

CAMKMT · rs72792395

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−9, 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 1,495,159 European ancestry individuals.

The effect Each copy of the T allele shifted the measure 0.016 SD unit higher (95% confidence interval 0.011-0.021); p = 5 × 10−10.

How common The T allele had a frequency of about 9% in the people studied.

Where it sits Chromosome 2, band 2p21 — in an intron of CAMKMT.

How common each version is

CT
Korean KRGDB
C 90.9% · T 9.1%
Korean Korea4K
C 91.6% · T 8.3%
Korean Korea1K
C 90.6% · T 9.4%
Japanese ToMMo
C 93.9% · T 6.1%
World gnomAD
C 86.0% · T 14.0%
World 1000 Genomes
C 85.7% · T 14.3%
World TOPMed
C 84.4% · T 15.6%

By ancestry gnomAD

East Asian
C 90.8% · T 9.2%
European (non-Finnish)
C 89.2% · T 10.8%
African / African American
C 80.4% · T 19.6%
South Asian
C 88.2% · T 11.8%
Admixed American (Latino)
C 78.7% · T 21.3%
Middle Eastern
C 88.1% · T 11.9%
Finnish
C 93.0% · T 7.0%
Ashkenazi Jewish
C 89.3% · T 10.7%

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

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

Quoting this page

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Refractive error (rs72792395). MyGeneLog™. https://www.mygenelog.com/variants/rs72792395

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