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.
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.882 0.200 2 47800283 missense variant C/A;G;T snv 1.6E-05 0.700 1.000 2 2011 2017
Colorectal cancer, hereditary nonpolyposis, type 1
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
179 0.882 0.200 2 47800283 missense variant C/A;G;T snv 1.6E-05 0.700 0
Endometrial Carcinoma
CUI: C0476089
Disease: Endometrial Carcinoma
326 0.882 0.200 2 47800283 missense variant C/A;G;T snv 1.6E-05 0.010 1.000 1 2019 2019
Malignant neoplasm of endometrium
CUI: C0007103
Disease: Malignant neoplasm of endometrium
197 0.882 0.200 2 47800283 missense variant C/A;G;T snv 1.6E-05 0.010 1.000 1 2019 2019