Source: BEFREE

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: 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 2 1997 2015
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 1 1997 2017
dbSNP: rs121909231
rs121909231
PTEN
0.667 0.600 10 87961095 stop gained C/A;T snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.730 1.000 3 1997 2015
dbSNP: rs121909231
rs121909231
PTEN
0.667 0.600 10 87961095 stop gained C/A;T snv
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		0.720 1.000 2 1997 2015
dbSNP: rs121909219
rs121909219
PTEN
0.689 0.400 10 87957915 stop gained C/A;T snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.710 1.000 1 1997 2016
dbSNP: rs121909224
rs121909224
PTEN
0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.710 1.000 1 1997 2013
dbSNP: rs121909229
rs121909229
PTEN
0.683 0.400 10 87933148 missense variant G/A;C;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.710 1.000 1 2016 2016
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 1 1997 2008
dbSNP: rs786201044
rs786201044
PTEN
0.827 0.200 10 87933165 missense variant T/C snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.710 0.857 1 2000 2013
dbSNP: rs587782343
rs587782343
PTEN
0.851 0.200 10 87933073 missense variant G/A snv
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.080 1.000 8 2004 2019
dbSNP: rs701848
rs701848
PTEN
0.807 0.280 10 87966988 3 prime UTR variant T/C snv 0.33
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.050 1.000 5 2012 2020
dbSNP: rs1205454520
rs1205454520
PTEN ; KLLN
0.763 0.120 10 87864059 5 prime UTR variant -/G delins 7.2E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.030 1.000 3 2001 2015
dbSNP: rs2735343
rs2735343
PTEN
0.790 0.240 10 87945672 non coding transcript exon variant G/C snv 0.39
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.030 1.000 3 2012 2016
dbSNP: rs3830675
rs3830675
PTEN
1.000 0.040 10 87931195 intron variant -/TCTTA delins
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.030 1.000 3 2014 2016
dbSNP: rs3830675
rs3830675
PTEN
1.000 0.040 10 87931195 intron variant -/TCTTA delins
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.030 1.000 3 2014 2016
dbSNP: rs701848
rs701848
PTEN
0.807 0.280 10 87966988 3 prime UTR variant T/C snv 0.33
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.030 1.000 3 2017 2017
dbSNP: rs701848
rs701848
PTEN
0.807 0.280 10 87966988 3 prime UTR variant T/C snv 0.33
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.030 1.000 3 2017 2017
dbSNP: rs1029342144
rs1029342144
PTEN ; KLLN
0.882 0.120 10 87864162 5 prime UTR variant C/G;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 0.500 2 2005 2011
dbSNP: rs121909218
rs121909218
PTEN
0.672 0.360 10 87933145 missense variant G/A snv
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.020 1.000 2 2002 2004
dbSNP: rs562015640
rs562015640
PTEN
0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		0.020 1.000 2 2011 2017
dbSNP: rs587782343
rs587782343
PTEN
0.851 0.200 10 87933073 missense variant G/A snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.020 1.000 2 2011 2017
dbSNP: rs1029342144
rs1029342144
PTEN ; KLLN
0.882 0.120 10 87864162 5 prime UTR variant C/G;T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2005 2005
dbSNP: rs1029342144
rs1029342144
PTEN ; KLLN
0.882 0.120 10 87864162 5 prime UTR variant C/G;T snv
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 1.000 1 2012 2012
dbSNP: rs1029342144
rs1029342144
PTEN ; KLLN
0.882 0.120 10 87864162 5 prime UTR variant C/G;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2011 2011
dbSNP: rs1029342144
rs1029342144
PTEN ; KLLN
0.882 0.120 10 87864162 5 prime UTR variant C/G;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2011 2011