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: rs1114167650
rs1114167650
PTEN
0.790 0.160 10 87925562 splice region variant G/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 4 1998 2010
dbSNP: rs1114167650
rs1114167650
PTEN
0.790 0.160 10 87925562 splice region variant G/A snv
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.700 1.000 1 2017 2017
dbSNP: rs1114167650
rs1114167650
PTEN
0.790 0.160 10 87925562 splice region variant G/A snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 1.000 1 2017 2017
dbSNP: rs1114167650
rs1114167650
PTEN
0.790 0.160 10 87925562 splice region variant G/A 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: rs1114167650
rs1114167650
PTEN
0.790 0.160 10 87925562 splice region variant G/A snv
CUI: C1834711
Disease: CEREBELLOPARENCHYMAL DISORDER VI
CEREBELLOPARENCHYMAL DISORDER VI 		0.700 1.000 1 2017 2017
dbSNP: rs1114167650
rs1114167650
PTEN
0.790 0.160 10 87925562 splice region variant G/A snv
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		0.700 1.000 1 2017 2017
dbSNP: rs1114167650
rs1114167650
PTEN
0.790 0.160 10 87925562 splice region variant G/A snv
CUI: C1834712
Disease: Cerebellar Granule Cell Hypertrophy and Megalencephaly
Cerebellar Granule Cell Hypertrophy and Megalencephaly 		0.700 1.000 1 2017 2017
dbSNP: rs1114167650
rs1114167650
PTEN
0.790 0.160 10 87925562 splice region variant G/A snv
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		0.700 1.000 1 2017 2017