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: rs876661024
rs876661024
PTEN
0.776 0.200 10 87957852 splice acceptor variant G/A;C;T snv
CUI: C1834712
Disease: Cerebellar Granule Cell Hypertrophy and Megalencephaly
Cerebellar Granule Cell Hypertrophy and Megalencephaly 		0.700 1.000 1 2017 2017
dbSNP: rs876661024
rs876661024
PTEN
0.776 0.200 10 87957852 splice acceptor variant G/A;C;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 1 2017 2017
dbSNP: rs876661024
rs876661024
PTEN
0.776 0.200 10 87957852 splice acceptor variant G/A;C;T snv
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		0.700 1.000 1 2017 2017
dbSNP: rs876661024
rs876661024
PTEN
0.776 0.200 10 87957852 splice acceptor variant G/A;C;T snv
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		0.700 1.000 1 2017 2017
dbSNP: rs876661024
rs876661024
PTEN
0.776 0.200 10 87957852 splice acceptor variant G/A;C;T snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 1.000 1 2017 2017
dbSNP: rs876661024
rs876661024
PTEN
0.776 0.200 10 87957852 splice acceptor variant G/A;C;T snv
CUI: C0037284
Disease: Skin lesion
Skin lesion 		0.700 0
dbSNP: rs876661024
rs876661024
PTEN
0.776 0.200 10 87957852 splice acceptor variant G/A;C;T snv
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.700 0
dbSNP: rs876661024
rs876661024
PTEN
0.776 0.200 10 87957852 splice acceptor variant G/A;C;T snv
CUI: C0009376
Disease: Colonic Polyps
Colonic Polyps 		0.700 0
dbSNP: rs876661024
rs876661024
PTEN
0.776 0.200 10 87957852 splice acceptor variant G/A;C;T snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs876660879
rs876660879
PTEN
10 87965472 stop lost A/C;G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 4 2005 2014
dbSNP: rs876660634
rs876660634
PTEN
0.807 0.200 10 87925551 missense variant A/C;G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 13 1997 2017
dbSNP: rs876660634
rs876660634
PTEN
0.807 0.200 10 87925551 missense variant A/C;G snv
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.700 1.000 8 1998 2015
dbSNP: rs876660634
rs876660634
PTEN
0.807 0.200 10 87925551 missense variant A/C;G snv
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		0.700 0
dbSNP: rs876660634
rs876660634
PTEN
0.807 0.200 10 87925551 missense variant A/C;G snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs876660634
rs876660634
PTEN
0.807 0.200 10 87925551 missense variant A/C;G snv
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 0
dbSNP: rs876660634
rs876660634
PTEN
0.807 0.200 10 87925551 missense variant A/C;G snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs876660634
rs876660634
PTEN
0.807 0.200 10 87925551 missense variant A/C;G snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs876660634
rs876660634
PTEN
0.807 0.200 10 87925551 missense variant A/C;G snv
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		0.700 0
dbSNP: rs876660634
rs876660634
PTEN
0.807 0.200 10 87925551 missense variant A/C;G snv
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.700 0
dbSNP: rs876660634
rs876660634
PTEN
0.807 0.200 10 87925551 missense variant A/C;G snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 0
dbSNP: rs876660535
rs876660535
PTEN
1.000 0.080 10 87933130 missense variant G/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 5 2003 2010
dbSNP: rs876660535
rs876660535
PTEN
1.000 0.080 10 87933130 missense variant G/A snv
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.700 0
dbSNP: rs876660507
rs876660507
PTEN
1.000 0.120 10 87952134 missense variant G/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 4 2011 2014
dbSNP: rs876660507
rs876660507
PTEN
1.000 0.120 10 87952134 missense variant G/T snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0
dbSNP: rs876660082
rs876660082
PTEN
1.000 0.080 10 87931088 splice donor variant -/G delins
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.700 0