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: rs562015640
rs562015640
PTEN
0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.010 1.000 1 2011 2011
dbSNP: rs786201044
rs786201044
PTEN
0.827 0.200 10 87933165 missense variant T/C snv
CUI: C0023462
Disease: Acute Megakaryocytic Leukemias
Acute Megakaryocytic Leukemias 		0.700 0
dbSNP: rs121909218
rs121909218
PTEN
0.672 0.360 10 87933145 missense variant G/A snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.010 1.000 1 2011 2011
dbSNP: rs765433422
rs765433422
PTEN
0.807 0.160 10 87952250 stop gained G/A;T snv 8.0E-06 7.0E-06
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.010 1.000 1 2017 2017
dbSNP: rs786204929
rs786204929
PTEN
0.752 0.200 10 87933144 stop gained G/A;T snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.010 1.000 1 2011 2011
dbSNP: rs121909235
rs121909235
PTEN
0.851 0.240 10 87957919 missense variant G/A snv
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas 		0.010 1.000 1 2018 2018
dbSNP: rs121909224
rs121909224
PTEN
0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate 		0.700 1.000 1 2016 2016
dbSNP: rs121909229
rs121909229
PTEN
0.683 0.400 10 87933148 missense variant G/A;C;T snv
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate 		0.700 1.000 1 2016 2016
dbSNP: rs1205454520
rs1205454520
PTEN ; KLLN
0.763 0.120 10 87864059 5 prime UTR variant -/G delins 7.2E-06
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.010 < 0.001 1 2007 2007
dbSNP: rs121909218
rs121909218
PTEN
0.672 0.360 10 87933145 missense variant G/A snv
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.010 1.000 1 2002 2002
dbSNP: rs778528056
rs778528056
PTEN
0.882 0.040 10 87957886 missense variant A/G;T snv
CUI: C1541317
Disease: Adult Gliosarcoma
Adult Gliosarcoma 		0.010 1.000 1 2019 2019
dbSNP: rs1234220
rs1234220
PTEN
0.851 0.080 10 87885716 intron variant A/G snv 9.1E-02
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs2299939
rs2299939
PTEN
0.827 0.080 10 87897393 intron variant C/A;T snv
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma 		0.010 < 0.001 1 2015 2015
dbSNP: rs121909235
rs121909235
PTEN
0.851 0.240 10 87957919 missense variant G/A snv
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		0.010 1.000 1 2018 2018
dbSNP: rs1085308045
rs1085308045
PTEN
0.807 0.160 10 87933128 missense variant C/G;T snv
CUI: C0003467
Disease: Anxiety
Anxiety 		0.700 0
dbSNP: rs1085308056
rs1085308056
PTEN
0.851 0.160 10 87957850 splice region variant C/G snv
CUI: C0003467
Disease: Anxiety
Anxiety 		0.700 0
dbSNP: rs121909231
rs121909231
PTEN
0.667 0.600 10 87961095 stop gained C/A;T snv
CUI: C0003467
Disease: Anxiety
Anxiety 		0.700 0
dbSNP: rs587776667
rs587776667
PTEN
0.742 0.280 10 87931090 splice donor variant G/A;C;T snv
CUI: C0003467
Disease: Anxiety
Anxiety 		0.700 0
dbSNP: rs786204858
rs786204858
PTEN
0.776 0.280 10 87933079 missense variant A/G;T snv
CUI: C0003467
Disease: Anxiety
Anxiety 		0.700 0
dbSNP: rs1085308040
rs1085308040
PTEN
0.851 0.200 10 87961096 missense variant G/A;T snv
CUI: C0264611
Disease: Apraxia of Phonation
Apraxia of Phonation 		0.700 0
dbSNP: rs1085308046
rs1085308046
PTEN
0.790 0.240 10 87933160 missense variant T/C;G snv
CUI: C0003803
Disease: Arnold Chiari Malformation
Arnold Chiari Malformation 		0.700 0
dbSNP: rs786204925
rs786204925
PTEN
1.000 0.080 10 87931074 stop gained A/C;T snv
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.010 1.000 1 2000 2000
dbSNP: rs121909224
rs121909224
PTEN
0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05
CUI: C0334533
Disease: Arteriovenous hemangioma
Arteriovenous hemangioma 		0.010 1.000 1 2000 2000
dbSNP: rs121909231
rs121909231
PTEN
0.667 0.600 10 87961095 stop gained C/A;T snv
CUI: C0334533
Disease: Arteriovenous hemangioma
Arteriovenous hemangioma 		0.010 1.000 1 2000 2000
dbSNP: rs1085308045
rs1085308045
PTEN
0.807 0.160 10 87933128 missense variant C/G;T snv
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.700 0