rs483352909, POLE

N. diseases: 11
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 CANCER, SUSCEPTIBILITY TO, 12
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
373 0.752 0.160 12 132673664 missense variant G/A;C snv 1.6E-05 0.800 1.000 10 2003 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.752 0.160 12 132673664 missense variant G/A;C snv 1.6E-05 0.700 1.000 6 1996 2015
FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE
CUI: C3554576
Disease: FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE
4 0.752 0.160 12 132673664 missense variant G/A;C snv 1.6E-05 0.700 0
Multiple polyps
CUI: C0334108
Disease: Multiple polyps
32 0.752 0.160 12 132673664 missense variant G/A;C snv 1.6E-05 0.020 1.000 2 2015 2016
Adult Oligodendroglioma
CUI: C0279070
Disease: Adult Oligodendroglioma
19 0.752 0.160 12 132673664 missense variant G/A;C snv 1.6E-05 0.010 1.000 1 2016 2016
Childhood Oligodendroglioma
CUI: C0280475
Disease: Childhood Oligodendroglioma
19 0.752 0.160 12 132673664 missense variant G/A;C snv 1.6E-05 0.010 1.000 1 2016 2016
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.752 0.160 12 132673664 missense variant G/A;C snv 1.6E-05 0.010 1.000 1 2016 2016
Endometrial Carcinoma
CUI: C0476089
Disease: Endometrial Carcinoma
326 0.752 0.160 12 132673664 missense variant G/A;C snv 1.6E-05 0.010 1.000 1 2013 2013
Malignant neoplasm of endometrium
CUI: C0007103
Disease: Malignant neoplasm of endometrium
197 0.752 0.160 12 132673664 missense variant G/A;C snv 1.6E-05 0.010 1.000 1 2013 2013
oligodendroglioma
CUI: C0028945
Disease: oligodendroglioma
21 0.752 0.160 12 132673664 missense variant G/A;C snv 1.6E-05 0.010 1.000 1 2016 2016
Well Differentiated Oligodendroglioma
CUI: C0751396
Disease: Well Differentiated Oligodendroglioma
22 0.752 0.160 12 132673664 missense variant G/A;C snv 1.6E-05 0.010 1.000 1 2016 2016