Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1064793345
rs1064793345
PTEN
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		C 0.700 GeneticVariation CLINVAR Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome. 22595938

2012
dbSNP: rs1064793345
rs1064793345
PTEN
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		C 0.700 GeneticVariation CLINVAR Lifetime cancer risks in individuals with germline PTEN mutations. 22252256

2012
dbSNP: rs876660634
rs876660634
PTEN
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		G 0.700 CausalMutation CLINVAR

dbSNP: rs745638189
rs745638189
PTEN
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.010 GeneticVariation BEFREE Three novel de novo missense mutations were found (p.H118P, p.Y176C, p.N276S) in two severely mentally retarded patients with autism and in a subject with neurodevelopmental disorders without autistic features. 18759867

2009
dbSNP: rs9651492
rs9651492
PTEN
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.010 GeneticVariation BEFREE We identified a de novo missense mutation (D326N) in a highly conserved amino acid in a 5-year-old boy with autism, mental retardation, language delay, extreme macrocephaly (+9.6 SD) and polydactyly of both feet. 17427195

2007