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: rs1205454520
rs1205454520
PTEN ; KLLN
0.763 0.120 10 87864059 5 prime UTR variant -/G delins 7.2E-06
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.010 1.000 1 2001 2001
dbSNP: rs1205454520
rs1205454520
PTEN ; KLLN
0.763 0.120 10 87864059 5 prime UTR variant -/G delins 7.2E-06
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.010 < 0.001 1 2007 2007
dbSNP: rs1205454520
rs1205454520
PTEN ; KLLN
0.763 0.120 10 87864059 5 prime UTR variant -/G delins 7.2E-06
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.010 < 0.001 1 2007 2007
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: rs1205454520
rs1205454520
PTEN ; KLLN
0.763 0.120 10 87864059 5 prime UTR variant -/G delins 7.2E-06
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.010 < 0.001 1 2007 2007
dbSNP: rs1205454520
rs1205454520
PTEN ; KLLN
0.763 0.120 10 87864059 5 prime UTR variant -/G delins 7.2E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 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: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 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: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 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: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.010 1.000 1 2001 2001
dbSNP: rs1210737543
rs1210737543
PTEN
1.000 0.040 10 87952124 missense variant A/G snv 4.0E-06
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.010 1.000 1 2004 2004
dbSNP: rs121909218
rs121909218
PTEN
0.672 0.360 10 87933145 missense variant G/A snv
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.010 1.000 1 2002 2002
dbSNP: rs121909218
rs121909218
PTEN
0.672 0.360 10 87933145 missense variant G/A snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.010 1.000 1 2016 2016
dbSNP: rs121909218
rs121909218
PTEN
0.672 0.360 10 87933145 missense variant G/A snv
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.010 1.000 1 2004 2004
dbSNP: rs121909218
rs121909218
PTEN
0.672 0.360 10 87933145 missense variant G/A snv
CUI: C0151650
Disease: Renal fibrosis
Renal fibrosis 		0.010 1.000 1 2019 2019
dbSNP: rs121909218
rs121909218
PTEN
0.672 0.360 10 87933145 missense variant G/A snv
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.010 1.000 1 2002 2002
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: rs121909218
rs121909218
PTEN
0.672 0.360 10 87933145 missense variant G/A snv
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.010 1.000 1 2002 2002
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: rs121909218
rs121909218
PTEN
0.672 0.360 10 87933145 missense variant G/A snv
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.010 1.000 1 2004 2004
dbSNP: rs121909218
rs121909218
PTEN
0.672 0.360 10 87933145 missense variant G/A snv
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.010 1.000 1 2004 2004
dbSNP: rs121909219
rs121909219
PTEN
0.689 0.400 10 87957915 stop gained C/A;T snv
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.010 1.000 1 2000 2000
dbSNP: rs121909222
rs121909222
PTEN
0.742 0.240 10 87933127 missense variant A/G snv
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		0.010 1.000 1 2016 2016
dbSNP: rs121909222
rs121909222
PTEN
0.742 0.240 10 87933127 missense variant A/G snv
CUI: C4282128
Disease: PATENT DUCTUS ARTERIOSUS 1
PATENT DUCTUS ARTERIOSUS 1 		0.010 1.000 1 2016 2016
dbSNP: rs121909222
rs121909222
PTEN
0.742 0.240 10 87933127 missense variant A/G snv
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 1.000 1 2016 2016
dbSNP: rs121909222
rs121909222
PTEN
0.742 0.240 10 87933127 missense variant A/G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2016 2016