Source: CURATED

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: rs1085308044
rs1085308044
PTEN ; KLLN
0.882 0.120 10 87864504 missense variant A/C snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1085308044
rs1085308044
PTEN ; KLLN
0.882 0.120 10 87864504 missense variant A/C snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1085308045
rs1085308045
PTEN
0.807 0.160 10 87933128 missense variant C/G;T snv
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.700 0
dbSNP: rs1085308045
rs1085308045
PTEN
0.807 0.160 10 87933128 missense variant C/G;T snv
CUI: C0003467
Disease: Anxiety
Anxiety 		0.700 0
dbSNP: rs1085308045
rs1085308045
PTEN
0.807 0.160 10 87933128 missense variant C/G;T snv
CUI: C0600104
Disease: Obsessive compulsive behavior
Obsessive compulsive behavior 		0.700 0
dbSNP: rs1085308045
rs1085308045
PTEN
0.807 0.160 10 87933128 missense variant C/G;T snv
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.700 0
dbSNP: rs1085308045
rs1085308045
PTEN
0.807 0.160 10 87933128 missense variant C/G;T snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1085308045
rs1085308045
PTEN
0.807 0.160 10 87933128 missense variant C/G;T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1085308045
rs1085308045
PTEN
0.807 0.160 10 87933128 missense variant C/G;T snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1085308045
rs1085308045
PTEN
0.807 0.160 10 87933128 missense variant C/G;T 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: 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: C0557874
Disease: Global developmental delay
Global developmental delay 		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: 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: 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: 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: 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: 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: C0150080
Disease: Social Communication Disorder
Social Communication Disorder 		0.700 0
dbSNP: rs1085308047
rs1085308047
PTEN ; KLLN
0.827 0.160 10 87864509 missense variant A/G snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1085308047
rs1085308047
PTEN ; KLLN
0.827 0.160 10 87864509 missense variant A/G snv
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.700 0
dbSNP: rs1085308047
rs1085308047
PTEN ; KLLN
0.827 0.160 10 87864509 missense variant A/G snv
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.700 0
dbSNP: rs1085308047
rs1085308047
PTEN ; KLLN
0.827 0.160 10 87864509 missense variant A/G snv
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.700 0
dbSNP: rs1085308047
rs1085308047
PTEN ; KLLN
0.827 0.160 10 87864509 missense variant A/G snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1085308047
rs1085308047
PTEN ; KLLN
0.827 0.160 10 87864509 missense variant A/G snv
CUI: C0027962
Disease: Melanocytic nevus
Melanocytic nevus 		0.700 0