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: rs1057517809
rs1057517809
PTEN
0.882 0.160 10 87965286 splice acceptor variant G/A;C snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0
dbSNP: rs1057517809
rs1057517809
PTEN
0.882 0.160 10 87965286 splice acceptor variant G/A;C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1057519368
rs1057519368
PTEN
0.882 0.320 10 87957958 stop gained T/A;C;G snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1057519368
rs1057519368
PTEN
0.882 0.320 10 87957958 stop gained T/A;C;G snv 4.0E-06
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0
dbSNP: rs1057520208
rs1057520208
PTEN
1.000 0.080 10 87933012 splice acceptor variant G/A snv
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.700 0
dbSNP: rs1057520900
rs1057520900
PTEN
0.925 0.080 10 87957893 stop gained T/C;G snv
CUI: C0018916
Disease: Hemangioma
Hemangioma 		0.700 0
dbSNP: rs1057520900
rs1057520900
PTEN
0.925 0.080 10 87957893 stop gained T/C;G snv
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.700 0
dbSNP: rs1057524874
rs1057524874
PTEN ; KLLN
1.000 0.200 10 87864510 frameshift variant -/GA delins
CUI: C1854416
Disease: MACROCEPHALY/AUTISM SYNDROME
MACROCEPHALY/AUTISM SYNDROME 		0.700 0
dbSNP: rs1060500113
rs1060500113
PTEN
1.000 0.080 10 87925547 frameshift variant -/T delins
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.700 0
dbSNP: rs1060500114
rs1060500114
PTEN
1.000 0.080 10 87952254 frameshift variant C/- del
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.700 0
dbSNP: rs1060500115
rs1060500115
PTEN
1.000 0.080 10 87957938 frameshift variant -/T delins
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.700 0
dbSNP: rs1060500115
rs1060500115
PTEN
1.000 0.080 10 87957938 frameshift variant -/T delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1060500116
rs1060500116
PTEN
1.000 0.080 10 87925524 stop gained C/G snv
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.700 0
dbSNP: rs1060500122
rs1060500122
PTEN
1.000 0.080 10 87933204 stop gained C/T snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 0
dbSNP: rs1060500124
rs1060500124
PTEN
1.000 0.080 10 87933253 splice donor variant T/- del
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.700 0
dbSNP: rs1060500126
rs1060500126
PTEN
0.790 0.160 10 87933223 missense variant A/C;G snv
CUI: C1834711
Disease: CEREBELLOPARENCHYMAL DISORDER VI
CEREBELLOPARENCHYMAL DISORDER VI 		0.700 0
dbSNP: rs1060500126
rs1060500126
PTEN
0.790 0.160 10 87933223 missense variant A/C;G snv
CUI: C1866376
Disease: Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor 		0.700 0
dbSNP: rs1060500126
rs1060500126
PTEN
0.790 0.160 10 87933223 missense variant A/C;G snv
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		0.700 0
dbSNP: rs1060500126
rs1060500126
PTEN
0.790 0.160 10 87933223 missense variant A/C;G snv
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		0.700 0
dbSNP: rs1060500126
rs1060500126
PTEN
0.790 0.160 10 87933223 missense variant A/C;G snv
CUI: C1834712
Disease: Cerebellar Granule Cell Hypertrophy and Megalencephaly
Cerebellar Granule Cell Hypertrophy and Megalencephaly 		0.700 0
dbSNP: rs1064792910
rs1064792910
PTEN
1.000 0.080 10 87933104 frameshift variant -/GACAATCATGTTG delins
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.700 0
dbSNP: rs1064794096
rs1064794096
PTEN ; KLLN
1.000 0.040 10 87864514 missense variant A/C;T snv
CUI: C0017638
Disease: Glioma
Glioma 		0.700 0
dbSNP: rs1085308039
rs1085308039
PTEN
0.925 0.080 10 87933075 stop gained G/T snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1085308039
rs1085308039
PTEN
0.925 0.080 10 87933075 stop gained G/T snv
CUI: C0457193
Disease: Soft tissue mass
Soft tissue mass 		0.700 0
dbSNP: rs1085308039
rs1085308039
PTEN
0.925 0.080 10 87933075 stop gained G/T snv
CUI: C0027960
Disease: Nevus
Nevus 		0.700 0