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.
Hereditary Nonpolyposis Colorectal Cancer
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
1331 0.925 0.160 2 47804908 splice acceptor variant A/G;T snv 0.700 1.000 5 1999 2015
Hereditary Nonpolyposis Colorectal Neoplasms
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
875 0.925 0.160 2 47804908 splice acceptor variant A/G;T snv 0.700 1.000 5 1999 2015
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.925 0.160 2 47804908 splice acceptor variant A/G;T snv 0.700 1.000 3 1999 2015
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
CUI: C1833477
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
78 0.925 0.160 2 47804908 splice acceptor variant A/G;T snv 0.700 1.000 2 1999 2010