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.
Basal Cell Nevus Syndrome
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
55 0.923 0.143 10 102549993 frameshift variant AG/A in-del 0.700 1 2017 2017
Medulloblastoma
CUI: C0025149
Disease: Medulloblastoma
66 0.923 0.143 10 102549993 frameshift variant AG/A in-del 0.700 1 2017 2017