rs1057519945, POLE

N. diseases: 12
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
609 0.776 0.200 12 132673703 missense variant C/A;T snv 0.700 1.000 1 2016 2016
Gastric Adenocarcinoma
CUI: C0278701
Disease: Gastric Adenocarcinoma
235 0.776 0.200 12 132673703 missense variant C/A;T snv 0.700 1.000 1 2016 2016
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
281 0.776 0.200 12 132673703 missense variant C/A;T snv 0.700 1.000 1 2016 2016
Malignant Uterine Corpus Neoplasm
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
152 0.776 0.200 12 132673703 missense variant C/A;T snv 0.700 1.000 1 2016 2016
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
373 0.776 0.200 12 132673703 missense variant C/A;T snv 0.700 0
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.776 0.200 12 132673703 missense variant C/A;T snv 0.020 1.000 2 2014 2017
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.776 0.200 12 132673703 missense variant C/A;T snv 0.020 1.000 2 2014 2017
Carcinoma, Endometrioid
CUI: C0206687
Disease: Carcinoma, Endometrioid
12 0.776 0.200 12 132673703 missense variant C/A;T snv 0.010 1.000 1 2019 2019
Endometrial Carcinoma
CUI: C0476089
Disease: Endometrial Carcinoma
326 0.776 0.200 12 132673703 missense variant C/A;T snv 0.010 1.000 1 2018 2018
Endometrioid carcinoma ovary
CUI: C0346163
Disease: Endometrioid carcinoma ovary
35 0.776 0.200 12 132673703 missense variant C/A;T snv 0.010 1.000 1 2014 2014
Multiple polyps
CUI: C0334108
Disease: Multiple polyps
32 0.776 0.200 12 132673703 missense variant C/A;T snv 0.010 1.000 1 2017 2017
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.776 0.200 12 132673703 missense variant C/A;T snv 0.010 1.000 1 2019 2019