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.
Nephropathic cystinosis
CUI: C2931187
Disease: Nephropathic cystinosis
55 1.000 0.080 17 3658015 frameshift variant -/CG delins 0.700 1.000 1 1998 1998