Source: UNIPROT

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: rs1060500126
rs1060500126
PTEN
0.790 0.160 10 87933223 missense variant A/C;G snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.800 1.000 3 2004 2015
dbSNP: rs121909238
rs121909238
PTEN
0.925 0.240 10 87933037 missense variant A/C;G snv
CUI: C1854416
Disease: MACROCEPHALY/AUTISM SYNDROME
MACROCEPHALY/AUTISM SYNDROME 		0.800 1.000 3 2005 2015
dbSNP: rs1064794096
rs1064794096
PTEN ; KLLN
1.000 0.040 10 87864514 missense variant A/C;T snv
CUI: C0017638
Disease: Glioma
Glioma 		0.700 0
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: rs587782360
rs587782360
PTEN
0.851 0.280 10 87933162 missense variant A/G snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 1.000 20 1997 2008
dbSNP: rs786204855
rs786204855
PTEN
1.000 0.080 10 87894084 missense variant A/G snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 0
dbSNP: rs562015640
rs562015640
PTEN
0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.710 1.000 20 1997 2008
dbSNP: rs121909239
rs121909239
PTEN
0.925 0.240 10 87957973 missense variant A/G;T snv
CUI: C1854416
Disease: MACROCEPHALY/AUTISM SYNDROME
MACROCEPHALY/AUTISM SYNDROME 		0.800 1.000 3 2005 2015
dbSNP: rs397514559
rs397514559
PTEN
0.925 0.240 10 87952125 missense variant C/A snv
CUI: C1854416
Disease: MACROCEPHALY/AUTISM SYNDROME
MACROCEPHALY/AUTISM SYNDROME 		0.800 1.000 3 2005 2015
dbSNP: rs121909237
rs121909237
PTEN
1.000 0.040 10 87933121 missense variant C/G snv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.800 1.000 1 2002 2002
dbSNP: rs397514560
rs397514560
PTEN
0.925 0.240 10 87933151 missense variant C/G;T snv
CUI: C1854416
Disease: MACROCEPHALY/AUTISM SYNDROME
MACROCEPHALY/AUTISM SYNDROME 		0.800 1.000 3 2005 2015
dbSNP: rs786204931
rs786204931
PTEN
0.925 0.120 10 87933126 missense variant C/G;T snv
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.700 0
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 23 1997 2017
dbSNP: rs121909218
rs121909218
PTEN
0.672 0.360 10 87933145 missense variant G/A snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.820 1.000 23 1997 2015
dbSNP: rs587782343
rs587782343
PTEN
0.851 0.200 10 87933073 missense variant G/A snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 1.000 20 1997 2008
dbSNP: rs121909235
rs121909235
PTEN
0.851 0.240 10 87957919 missense variant G/A snv
CUI: C2751642
Disease: GLIOMA SUSCEPTIBILITY 2
GLIOMA SUSCEPTIBILITY 2 		0.700 1.000 1 2002 2002
dbSNP: rs121909233
rs121909233
PTEN ; KLLN
1.000 0.040 10 87864524 missense variant G/A snv
CUI: C0025202
Disease: melanoma
melanoma 		0.800 0
dbSNP: rs121909234
rs121909234
PTEN
1.000 0.040 10 87957867 missense variant G/A snv
CUI: C0025202
Disease: melanoma
melanoma 		0.800 0
dbSNP: rs1554893792
rs1554893792
PTEN
1.000 0.040 10 87894052 missense variant G/A snv
CUI: C0017638
Disease: Glioma
Glioma 		0.700 0
dbSNP: rs786204859
rs786204859
PTEN
0.925 0.080 10 87933166 missense variant G/A snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 0
dbSNP: rs398123314
rs398123314
PTEN
1.000 0.080 10 87961118 missense variant G/A;C snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 1.000 20 1997 2008
dbSNP: rs121909229
rs121909229
PTEN
0.683 0.400 10 87933148 missense variant G/A;C;T snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.800 1.000 20 1997 2008
dbSNP: rs587782603
rs587782603
PTEN
1.000 0.040 10 87952118 stop gained G/A;T snv
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.700 0
dbSNP: rs786204929
rs786204929
PTEN
0.752 0.200 10 87933144 stop gained G/A;T snv
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.700 0
dbSNP: rs786204863
rs786204863
PTEN
1.000 0.080 10 87952119 missense variant G/T snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 0