Source: CLINVAR

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: rs483352909
rs483352909
POLE
0.752 0.160 12 132673664 missense variant G/A;C snv 1.6E-05
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.800 1.000 8 2003 2017
dbSNP: rs483352909
rs483352909
POLE
0.752 0.160 12 132673664 missense variant G/A;C snv 1.6E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 6 1996 2015
dbSNP: rs398122515
rs398122515
POLE
0.925 12 132643404 splice region variant T/C snv 7.0E-06
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 2 2013 2013
dbSNP: rs1057519943
rs1057519943
POLE
0.790 0.160 12 132676598 missense variant G/C;T snv
CUI: C0280630
Disease: Uterine Carcinosarcoma
Uterine Carcinosarcoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519943
rs1057519943
POLE
0.790 0.160 12 132676598 missense variant G/C;T snv
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas 		0.700 1.000 1 2016 2016
dbSNP: rs1057519943
rs1057519943
POLE
0.790 0.160 12 132676598 missense variant G/C;T snv
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		0.700 1.000 1 2016 2016
dbSNP: rs1057519943
rs1057519943
POLE
0.790 0.160 12 132676598 missense variant G/C;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs1057519943
rs1057519943
POLE
0.790 0.160 12 132676598 missense variant G/C;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs1057519944
rs1057519944
POLE
0.882 0.160 12 132676599 missense variant G/A snv
CUI: C0280630
Disease: Uterine Carcinosarcoma
Uterine Carcinosarcoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519944
rs1057519944
POLE
0.882 0.160 12 132676599 missense variant G/A snv
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		0.700 1.000 1 2016 2016
dbSNP: rs1057519944
rs1057519944
POLE
0.882 0.160 12 132676599 missense variant G/A snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs1057519944
rs1057519944
POLE
0.882 0.160 12 132676599 missense variant G/A snv
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas 		0.700 1.000 1 2016 2016
dbSNP: rs1057519944
rs1057519944
POLE
0.882 0.160 12 132676599 missense variant G/A snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs1057519945
rs1057519945
POLE
0.776 0.200 12 132673703 missense variant C/A;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs1057519945
rs1057519945
POLE
0.776 0.200 12 132673703 missense variant C/A;T snv
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519945
rs1057519945
POLE
0.776 0.200 12 132673703 missense variant C/A;T snv
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		0.700 1.000 1 2016 2016
dbSNP: rs1057519945
rs1057519945
POLE
0.776 0.200 12 132673703 missense variant C/A;T snv
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs1555225958
rs1555225958
POLE
1.000 12 132661097 stop gained C/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1555225958
rs1555225958
POLE
1.000 12 132661097 stop gained C/A snv
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 0
dbSNP: rs398122515
rs398122515
POLE
0.925 12 132643404 splice region variant T/C snv 7.0E-06
CUI: C3554576
Disease: FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE
FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE 		0.700 0
dbSNP: rs483352909
rs483352909
POLE
0.752 0.160 12 132673664 missense variant G/A;C snv 1.6E-05
CUI: C3554576
Disease: FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE
FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE 		0.700 0
dbSNP: rs761329565
rs761329565
POLE
1.000 12 132681201 frameshift variant C/- delins 4.0E-06
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 0
dbSNP: rs772127913
rs772127913
POLE
1.000 12 132634278 missense variant T/C snv 2.4E-05 7.0E-06
CUI: C3554576
Disease: FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE
FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE 		0.700 0
dbSNP: rs780843358
rs780843358
POLE
1.000 12 132634323 missense variant T/A snv 4.0E-06
CUI: C3554576
Disease: FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE
FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE 		0.700 0