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: 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