Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1085308042
rs1085308042
PTEN
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1085308042
rs1085308042
PTEN
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1085308042
rs1085308042
PTEN
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1085308042
rs1085308042
PTEN
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		A 0.700 CausalMutation CLINVAR