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.
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
350 1.000 0.080 X 74421994 frameshift variant CT/- delins 0.700 1.000 15 1990 2016
Spastic Paraplegia
CUI: C0037772
Disease: Spastic Paraplegia
93 1.000 0.080 X 74421994 frameshift variant CT/- delins 0.700 0