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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 53,386 European ancestry cases, 77,258 European ancestry controls, 14,004 East Asian ancestry cases, 16,757 East Asian ancestry controls, 6,152 African American cases, 3,918 African American controls, 1,234 Latino cases, 3,090 Latino controls; replicated in 1,979 European ancestry cases, 142,626 European ancestry controls.
The effect
Each copy of the A allele carried 1.06 times the odds of Schizophrenia (95% confidence interval 1.04-1.07); p = 1 × 10−9.
How common The A allele had a frequency of about 21% in the people studied.
Where it sits Chromosome 5, band 5q21.3 — in an intron of EFNA5.
What each result means
A/ATwo copies of the version the research linked to Schizophrenia. That is the strongest link of the three results. A link in a study is not a diagnosis.
A/GOne copy of the version the research linked to Schizophrenia. That is a smaller link than two copies.
G/GNo copy of the version the research linked to Schizophrenia. This is the starting point the study compared everyone against.
rs252812 is a single position in the genome, in or near the EFNA5 gene. Published research associates it with schizophrenia. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
What conditions is rs252812 linked to?
On MyGeneLog this position is linked to Autism Spectrum Disorder and Schizophrenia (Shared Genetic Risk). The research behind each link, and its sources, are set out on that condition page.
Does having rs252812 mean I will get this?
No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.
Where does the information about rs252812 come from?
GWAS Catalog, Nature 2022, PMID:35396580. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.
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