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: rs121909222
rs121909222
PTEN
0.742 0.240 10 87933127 missense variant A/G snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.800 1.000 20 1997 2008
dbSNP: rs121909222
rs121909222
PTEN
0.742 0.240 10 87933127 missense variant A/G snv
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.700 1.000 1 1999 1999
dbSNP: rs121909222
rs121909222
PTEN
0.742 0.240 10 87933127 missense variant A/G snv
CUI: C1834711
Disease: CEREBELLOPARENCHYMAL DISORDER VI
CEREBELLOPARENCHYMAL DISORDER VI 		0.700 0
dbSNP: rs121909222
rs121909222
PTEN
0.742 0.240 10 87933127 missense variant A/G snv
CUI: C1834712
Disease: Cerebellar Granule Cell Hypertrophy and Megalencephaly
Cerebellar Granule Cell Hypertrophy and Megalencephaly 		0.700 0
dbSNP: rs121909222
rs121909222
PTEN
0.742 0.240 10 87933127 missense variant A/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: rs121909222
rs121909222
PTEN
0.742 0.240 10 87933127 missense variant A/G snv
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		0.700 0
dbSNP: rs121909222
rs121909222
PTEN
0.742 0.240 10 87933127 missense variant A/G snv
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		0.700 0
dbSNP: rs121909222
rs121909222
PTEN
0.742 0.240 10 87933127 missense variant A/G snv
CUI: C0153676
Disease: Secondary malignant neoplasm of lung
Secondary malignant neoplasm of lung 		0.010 1.000 1 2016 2016
dbSNP: rs121909222
rs121909222
PTEN
0.742 0.240 10 87933127 missense variant A/G snv
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 1.000 1 2016 2016
dbSNP: rs121909222
rs121909222
PTEN
0.742 0.240 10 87933127 missense variant A/G snv
CUI: C3642347
Disease: Basal-Like Breast Carcinoma
Basal-Like Breast Carcinoma 		0.010 1.000 1 2016 2016
dbSNP: rs121909222
rs121909222
PTEN
0.742 0.240 10 87933127 missense variant A/G snv
CUI: C4282128
Disease: PATENT DUCTUS ARTERIOSUS 1
PATENT DUCTUS ARTERIOSUS 1 		0.010 1.000 1 2016 2016
dbSNP: rs121909222
rs121909222
PTEN
0.742 0.240 10 87933127 missense variant A/G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2016 2016
dbSNP: rs121909222
rs121909222
PTEN
0.742 0.240 10 87933127 missense variant A/G snv
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		0.010 1.000 1 2016 2016