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.
Turcot syndrome (disorder)
CUI: C0265325
Disease: Turcot syndrome (disorder)
75 0.882 0.200 3 36993651 missense variant TG/AC mnv 0.800 1.000 7 1995 2015
Hereditary Non-Polyposis Colon Cancer Type 2
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
154 0.882 0.200 3 36993651 missense variant TG/AC mnv 0.700 0
Hereditary Nonpolyposis Colorectal Cancer
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
1331 0.882 0.200 3 36993651 missense variant TG/AC mnv 0.700 0