Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1085308046
rs1085308046
PTEN
0.790 0.240 10 87933160 missense variant T/C;G snv
CUI: C0150080
Disease: Social Communication Disorder
Social Communication Disorder 		0.700 0
dbSNP: rs1085308046
rs1085308046
PTEN
0.790 0.240 10 87933160 missense variant T/C;G snv
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.700 0
dbSNP: rs1085308046
rs1085308046
PTEN
0.790 0.240 10 87933160 missense variant T/C;G snv
CUI: C0003803
Disease: Arnold Chiari Malformation
Arnold Chiari Malformation 		0.700 0
dbSNP: rs1085308046
rs1085308046
PTEN
0.790 0.240 10 87933160 missense variant T/C;G snv
CUI: C0343082
Disease: Senile angioma
Senile angioma 		0.700 0
dbSNP: rs1085308046
rs1085308046
PTEN
0.790 0.240 10 87933160 missense variant T/C;G snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1085308046
rs1085308046
PTEN
0.790 0.240 10 87933160 missense variant T/C;G snv
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.700 0
dbSNP: rs1085308046
rs1085308046
PTEN
0.790 0.240 10 87933160 missense variant T/C;G snv
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		0.700 0
dbSNP: rs1085308046
rs1085308046
PTEN
0.790 0.240 10 87933160 missense variant T/C;G snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1085308046
rs1085308046
PTEN
0.790 0.240 10 87933160 missense variant T/C;G snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0