rare variant risk_factor_for autism spectrum disorder

Subject: rare variant
Relation: risk_factor_for
Object: autism spectrum disorder
p-value: —

Evidence from: primary | all sources

Evidence (2 sources)

What Should a Psychiatrist Know About Genetics? Review and Recommendations From the Residency Education Committee of the International Society of Psychiatric Genetics. (2018) PMID:30549495 cited

Rare variants appear to be implicated in 10%−30% of cases of autism spectrum disorder

confidence: 0.96

Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. (2011) PMID:21658581 cited

Rare structural variants, both transmitted and de novo, also show varying degrees of evidence for association with ASD

confidence: 0.93