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: rs121913293
rs121913293
PTEN
0.732 0.360 10 87952142 missense variant C/A;T snv
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.700 1.000 7 2000 2017
dbSNP: rs121913293
rs121913293
PTEN
0.732 0.360 10 87952142 missense variant C/A;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 6 2000 2015
dbSNP: rs121913293
rs121913293
PTEN
0.732 0.360 10 87952142 missense variant C/A;T snv
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		0.700 1.000 5 2007 2017
dbSNP: rs121913293
rs121913293
PTEN
0.732 0.360 10 87952142 missense variant C/A;T snv
CUI: C1834712
Disease: Cerebellar Granule Cell Hypertrophy and Megalencephaly
Cerebellar Granule Cell Hypertrophy and Megalencephaly 		0.700 1.000 5 2007 2017
dbSNP: rs121913293
rs121913293
PTEN
0.732 0.360 10 87952142 missense variant C/A;T snv
CUI: C1848599
Disease: VACTERL Association With Hydrocephalus
VACTERL Association With Hydrocephalus 		0.700 1.000 5 2007 2017
dbSNP: rs121913293
rs121913293
PTEN
0.732 0.360 10 87952142 missense variant C/A;T snv
CUI: C1866376
Disease: Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor 		0.700 1.000 5 2007 2017
dbSNP: rs121913293
rs121913293
PTEN
0.732 0.360 10 87952142 missense variant C/A;T snv
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		0.700 1.000 5 2007 2017
dbSNP: rs121913293
rs121913293
PTEN
0.732 0.360 10 87952142 missense variant C/A;T snv
CUI: C1854416
Disease: MACROCEPHALY/AUTISM SYNDROME
MACROCEPHALY/AUTISM SYNDROME 		0.700 1.000 5 2007 2017
dbSNP: rs121913293
rs121913293
PTEN
0.732 0.360 10 87952142 missense variant C/A;T snv
CUI: C1834711
Disease: CEREBELLOPARENCHYMAL DISORDER VI
CEREBELLOPARENCHYMAL DISORDER VI 		0.700 1.000 5 2007 2017
dbSNP: rs121913293
rs121913293
PTEN
0.732 0.360 10 87952142 missense variant C/A;T snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 1.000 5 2007 2017
dbSNP: rs121913293
rs121913293
PTEN
0.732 0.360 10 87952142 missense variant C/A;T snv
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		0.700 1.000 1 2014 2014
dbSNP: rs121913293
rs121913293
PTEN
0.732 0.360 10 87952142 missense variant C/A;T snv
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.700 0
dbSNP: rs121913293
rs121913293
PTEN
0.732 0.360 10 87952142 missense variant C/A;T snv
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.700 0
dbSNP: rs121913293
rs121913293
PTEN
0.732 0.360 10 87952142 missense variant C/A;T snv
CUI: C3551915
Disease: MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO
MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs121913293
rs121913293
PTEN
0.732 0.360 10 87952142 missense variant C/A;T snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs121913293
rs121913293
PTEN
0.732 0.360 10 87952142 missense variant C/A;T snv
CUI: C2751642
Disease: GLIOMA SUSCEPTIBILITY 2
GLIOMA SUSCEPTIBILITY 2 		0.700 0
dbSNP: rs121913293
rs121913293
PTEN
0.732 0.360 10 87952142 missense variant C/A;T snv
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.700 0
dbSNP: rs121913293
rs121913293
PTEN
0.732 0.360 10 87952142 missense variant C/A;T snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0