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.
Knobloch Syndrome, Type I
CUI: C4551775
Disease: Knobloch Syndrome, Type I
9 0.882 0.160 21 45510091 frameshift variant CT/- del 3.0E-04 2.9E-04 0.700 0
Macular dystrophy
CUI: C0730292
Disease: Macular dystrophy
59 0.882 0.160 21 45510091 frameshift variant CT/- del 3.0E-04 2.9E-04 0.700 0
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.882 0.160 21 45510091 frameshift variant CT/- del 3.0E-04 2.9E-04 0.700 0