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: rs587782350
rs587782350
PTEN
0.776 0.160 10 87957955 missense variant C/T snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.810 1.000 31 1997 2017
dbSNP: rs587782350
rs587782350
PTEN
0.776 0.160 10 87957955 missense variant C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 12 1999 2017
dbSNP: rs587782350
rs587782350
PTEN
0.776 0.160 10 87957955 missense variant C/T snv
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.700 1.000 10 1999 2017
dbSNP: rs587782350
rs587782350
PTEN
0.776 0.160 10 87957955 missense variant C/T snv
CUI: C1834712
Disease: Cerebellar Granule Cell Hypertrophy and Megalencephaly
Cerebellar Granule Cell Hypertrophy and Megalencephaly 		0.700 1.000 8 1999 2017
dbSNP: rs587782350
rs587782350
PTEN
0.776 0.160 10 87957955 missense variant 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 8 1999 2017
dbSNP: rs587782350
rs587782350
PTEN
0.776 0.160 10 87957955 missense variant C/T snv
CUI: C1834711
Disease: CEREBELLOPARENCHYMAL DISORDER VI
CEREBELLOPARENCHYMAL DISORDER VI 		0.700 1.000 8 1999 2017
dbSNP: rs587782350
rs587782350
PTEN
0.776 0.160 10 87957955 missense variant C/T snv
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		0.700 1.000 8 1999 2017
dbSNP: rs587782350
rs587782350
PTEN
0.776 0.160 10 87957955 missense variant C/T snv
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		0.700 1.000 8 1999 2017
dbSNP: rs587782350
rs587782350
PTEN
0.776 0.160 10 87957955 missense variant C/T snv
CUI: C0265326
Disease: Bannayan-Riley-Ruvalcaba Syndrome
Bannayan-Riley-Ruvalcaba Syndrome 		0.010 1.000 1 1999 1999