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: 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: 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
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: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2011 2011
dbSNP: rs10490920
rs10490920
PTEN
1.000 0.080 10 87925886 intron variant T/C snv 0.14
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs1057517809
rs1057517809
PTEN
0.882 0.160 10 87965286 splice acceptor variant G/A;C snv
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.700 1.000 1 2016 2016
dbSNP: rs1057517809
rs1057517809
PTEN
0.882 0.160 10 87965286 splice acceptor variant G/A;C snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 1.000 1 2017 2017
dbSNP: rs1057517809
rs1057517809
PTEN
0.882 0.160 10 87965286 splice acceptor variant G/A;C snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0
dbSNP: rs1057517809
rs1057517809
PTEN
0.882 0.160 10 87965286 splice acceptor variant G/A;C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1057519368
rs1057519368
PTEN
0.882 0.320 10 87957958 stop gained T/A;C;G snv 4.0E-06
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.700 1.000 2 2016 2017
dbSNP: rs1057519368
rs1057519368
PTEN
0.882 0.320 10 87957958 stop gained T/A;C;G snv 4.0E-06
CUI: C1854416
Disease: MACROCEPHALY/AUTISM SYNDROME
MACROCEPHALY/AUTISM SYNDROME 		0.700 1.000 1 2017 2017
dbSNP: rs1057519368
rs1057519368
PTEN
0.882 0.320 10 87957958 stop gained T/A;C;G snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1057519368
rs1057519368
PTEN
0.882 0.320 10 87957958 stop gained T/A;C;G snv 4.0E-06
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0
dbSNP: rs1057519724
rs1057519724
PTEN
1.000 0.080 10 87933236 missense variant G/A;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.700 1.000 10 2004 2012
dbSNP: rs1057519724
rs1057519724
PTEN
1.000 0.080 10 87933236 missense variant G/A;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 4 1999 2010
dbSNP: rs1057519724
rs1057519724
PTEN
1.000 0.080 10 87933236 missense variant G/A;T snv
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.700 1.000 2 2016 2018
dbSNP: rs1057520208
rs1057520208
PTEN
1.000 0.080 10 87933012 splice acceptor variant G/A snv
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.700 0
dbSNP: rs1057520900
rs1057520900
PTEN
0.925 0.080 10 87957893 stop gained T/C;G snv
CUI: C0018916
Disease: Hemangioma
Hemangioma 		0.700 0
dbSNP: rs1057520900
rs1057520900
PTEN
0.925 0.080 10 87957893 stop gained T/C;G snv
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.700 0
dbSNP: rs1057524874
rs1057524874
PTEN ; KLLN
1.000 0.200 10 87864510 frameshift variant -/GA delins
CUI: C1854416
Disease: MACROCEPHALY/AUTISM SYNDROME
MACROCEPHALY/AUTISM SYNDROME 		0.700 0
dbSNP: rs1060500110
rs1060500110
PTEN
1.000 0.080 10 87958019 splice donor variant G/- delins
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.700 1.000 4 1998 2011
dbSNP: rs1060500113
rs1060500113
PTEN
1.000 0.080 10 87925547 frameshift variant -/T delins
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.700 0
dbSNP: rs1060500114
rs1060500114
PTEN
1.000 0.080 10 87952254 frameshift variant C/- del
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.700 0