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.
Cystinosis
CUI: C4316899
Disease: Cystinosis
27 1.000 0.080 17 3655063 frameshift variant -/A delins 0.700 1.000 1 2002 2002