Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1566446604
rs1566446604
CUI: C0036572
Disease: Seizures
Seizures
G 0.700 CausalMutation CLINVAR A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review. 26789910

2016

dbSNP: rs1566446604
rs1566446604
CUI: C0036572
Disease: Seizures
Seizures
G 0.700 CausalMutation CLINVAR Disruptive CHD8 mutations define a subtype of autism early in development. 24998929

2014

dbSNP: rs1566446604
rs1566446604
CUI: C0036572
Disease: Seizures
Seizures
G 0.700 CausalMutation CLINVAR Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. 22495309

2012

dbSNP: rs1566446604
rs1566446604
CUI: C0036572
Disease: Seizures
Seizures
G 0.700 CausalMutation CLINVAR Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. 23160955

2012