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Corneal resistance factor

ANAPC1 · rs115845266

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 = 10⁻⁹, 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 76,029 white-British ancestry individuals; replicated in 10,130 non white-British ancestry individuals.

The effect Each copy of the T allele shifted the measure 0.189 lower (95% confidence interval 0.13-0.25); p = 1 × 10⁻⁹.

How common The T allele had a frequency of about 98% in the people studied.

Where it sits Chromosome 2, band 2q13 — in an intron of ANAPC1.

How common each version is

CT

World gnomAD

C 1.5% · T 98.5%

World 1000 Genomes

C 0.9% · T 99.1%

World TOPMed

C 1.3% · T 98.7%

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. No Korean figure for this position yet.

What each result means

C/C No copy of the version the research linked to Corneal resistance factor. This is the starting point the study compared everyone against.

C/T One copy of the version the research linked to Corneal resistance factor. That is a smaller link than two copies.

T/T Two copies of the version the research linked to Corneal resistance factor. That is the strongest link of the three results. A link in a study is not a diagnosis.

Source

Fine-mapping and cell-specific enrichment at corneal resistance factor loci prioritize candidate causal regulatory variants

Jiang X, Dellepiane N, Pairo-Castineira E, Boutin T, Kumar Y, Bickmore WA, Vitart V

Communications biology · 2020 · PMID 33311554 · open access

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

Corneal resistance factor (rs115845266). MyGeneLog™. https://www.mygenelog.com/variants/rs115845266

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