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: rs1057519943
rs1057519943
POLE
0.790 0.160 12 132676598 missense variant G/C;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 1.000 2 2018 2019
dbSNP: rs1057519945
rs1057519945
POLE
0.776 0.200 12 132673703 missense variant C/A;T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 1.000 2 2014 2017
dbSNP: rs1057519945
rs1057519945
POLE
0.776 0.200 12 132673703 missense variant C/A;T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 1.000 2 2014 2017
dbSNP: rs483352909
rs483352909
POLE
0.752 0.160 12 132673664 missense variant G/A;C snv 1.6E-05
CUI: C0334108
Disease: Multiple polyps
Multiple polyps 		0.020 1.000 2 2015 2016
dbSNP: rs1057519943
rs1057519943
POLE
0.790 0.160 12 132676598 missense variant G/C;T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2016 2016
dbSNP: rs1057519943
rs1057519943
POLE
0.790 0.160 12 132676598 missense variant G/C;T snv
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2016 2016
dbSNP: rs1057519943
rs1057519943
POLE
0.790 0.160 12 132676598 missense variant G/C;T snv
CUI: C0206687
Disease: Carcinoma, Endometrioid
Carcinoma, Endometrioid 		0.010 1.000 1 2019 2019
dbSNP: rs1057519943
rs1057519943
POLE
0.790 0.160 12 132676598 missense variant G/C;T snv
CUI: C0205698
Disease: Undifferentiated carcinoma
Undifferentiated carcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs1057519945
rs1057519945
POLE
0.776 0.200 12 132673703 missense variant C/A;T snv
CUI: C0346163
Disease: Endometrioid carcinoma ovary
Endometrioid carcinoma ovary 		0.010 1.000 1 2014 2014
dbSNP: rs1057519945
rs1057519945
POLE
0.776 0.200 12 132673703 missense variant C/A;T snv
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs1057519945
rs1057519945
POLE
0.776 0.200 12 132673703 missense variant C/A;T snv
CUI: C0206687
Disease: Carcinoma, Endometrioid
Carcinoma, Endometrioid 		0.010 1.000 1 2019 2019
dbSNP: rs1057519945
rs1057519945
POLE
0.776 0.200 12 132673703 missense variant C/A;T snv
CUI: C0334108
Disease: Multiple polyps
Multiple polyps 		0.010 1.000 1 2017 2017
dbSNP: rs1057519945
rs1057519945
POLE
0.776 0.200 12 132673703 missense variant C/A;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2019 2019
dbSNP: rs1232888774
rs1232888774
POLE
1.000 0.080 12 132676606 synonymous variant G/C snv 7.0E-06
CUI: C0149978
Disease: Adenocarcinoma of rectum
Adenocarcinoma of rectum 		0.010 1.000 1 2019 2019
dbSNP: rs1323151304
rs1323151304
POLE
0.925 0.080 12 132643933 frameshift variant TA/- delins
CUI: C0334294
Disease: Multiple adenomatous polyps
Multiple adenomatous polyps 		0.010 1.000 1 2019 2019
dbSNP: rs1323151304
rs1323151304
POLE
0.925 0.080 12 132643933 frameshift variant TA/- delins
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.010 1.000 1 2019 2019
dbSNP: rs146639652
rs146639652
POLE
0.827 0.080 12 132675752 missense variant G/A;C snv 1.2E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs146639652
rs146639652
POLE
0.827 0.080 12 132675752 missense variant G/A;C snv 1.2E-05
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2019 2019
dbSNP: rs146639652
rs146639652
POLE
0.827 0.080 12 132675752 missense variant G/A;C snv 1.2E-05
CUI: C0334588
Disease: Giant Cell Glioblastoma
Giant Cell Glioblastoma 		0.010 1.000 1 2019 2019
dbSNP: rs146639652
rs146639652
POLE
0.827 0.080 12 132675752 missense variant G/A;C snv 1.2E-05
CUI: C3899659
Disease: Childhood Giant Cell Glioblastoma
Childhood Giant Cell Glioblastoma 		0.010 1.000 1 2019 2019
dbSNP: rs146639652
rs146639652
POLE
0.827 0.080 12 132675752 missense variant G/A;C snv 1.2E-05
CUI: C1541316
Disease: Adult Giant Cell Glioblastoma
Adult Giant Cell Glioblastoma 		0.010 1.000 1 2019 2019
dbSNP: rs483352909
rs483352909
POLE
0.752 0.160 12 132673664 missense variant G/A;C snv 1.6E-05
CUI: C0751396
Disease: Well Differentiated Oligodendroglioma
Well Differentiated Oligodendroglioma 		0.010 1.000 1 2016 2016
dbSNP: rs483352909
rs483352909
POLE
0.752 0.160 12 132673664 missense variant G/A;C snv 1.6E-05
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.010 1.000 1 2013 2013
dbSNP: rs483352909
rs483352909
POLE
0.752 0.160 12 132673664 missense variant G/A;C snv 1.6E-05
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		0.010 1.000 1 2013 2013
dbSNP: rs483352909
rs483352909
POLE
0.752 0.160 12 132673664 missense variant G/A;C snv 1.6E-05
CUI: C0279070
Disease: Adult Oligodendroglioma
Adult Oligodendroglioma 		0.010 1.000 1 2016 2016