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
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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 = 10−12, 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 430 African American or Afro-Caribbean cases, 121,162 African American or Afro-Caribbean controls, 1,704 European ancestry cases, 448,821 European ancestry controls.
The effect
Each copy of the C allele shifted the measure 3.31 lower (95% confidence interval 3.29-3.34); p = 2 × 10−12.
How common The C allele had a frequency of about 100% in the people studied.
Where it sits Chromosome 10, band 10p14 — in an intron of CELF2.
How common each version is
CT
World gnomAD
C 100.0% · T 0.0%
World TOPMed
C 100.0% · T 0.0%
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. No Korean figure for this position yet.
What each result means
C/CTwo copies of the version the research linked to Retinoschisis and retinal cysts (PheCode 361.2). That is the strongest link of the three results. A link in a study is not a diagnosis.
C/TOne copy of the version the research linked to Retinoschisis and retinal cysts (PheCode 361.2). That is a smaller link than two copies.
T/TNo copy of the version the research linked to Retinoschisis and retinal cysts (PheCode 361.2). This is the starting point the study compared everyone against.
Science (New York, N.Y.) · 2024 · PMID 39024449 · open access
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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
Retinoschisis and retinal cysts (PheCode 361.2) (rs1054266228). MyGeneLog™. https://www.mygenelog.com/variants/rs1054266228