HLA-DRB5 · rs191269336
Where this position leads
Condition: Autism Spectrum Disorder and Schizophrenia (Shared Genetic Risk)
Strength of the evidence
Its strongest genetic-study result is p = 10−8, with 1 associations in the GWAS Catalog.
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 schizophrenia cases and controls (see Ripke, 2014), up to 6,197 European ancestry ASD cases, up to 7,377 European ancestry controls, up to 1,190 ASD cases, up to 1,190 controls.
The effect Each copy of the A allele carried 1.09 times the odds of Autism spectrum disorder or schizophrenia (95% confidence interval 1.06-1.12); p = 5 × 10−9.
Where it sits Chromosome 6, band 6p21.32 — in an intron of HLA-DRB5.
How common each version is
AT
A 79.2% · T 20.8%
A 90.8% · T 9.2%
A 87.9% · T 12.1%
A 79.2% · T 20.8%
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.
rs191269336 is a single position in the genome, in or near the HLA-DRB5 gene. Published research associates it with autism spectrum disorder or schizophrenia. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
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.
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.
GWAS Catalog, Mol Autism 2017, PMID:28540026. 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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Autism spectrum disorder or schizophrenia (rs191269336). MyGeneLog™. https://www.mygenelog.com/variants/rs191269336