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, benign, nonnephropathic
CUI: C2931013
Disease: Cystinosis, benign, nonnephropathic
12 0.882 0.160 17 3648912 frameshift variant TCCTT/- del 0.700 0
Juvenile nephropathic cystinosis (disorder)
CUI: C0268626
Disease: Juvenile nephropathic cystinosis (disorder)
13 0.882 0.160 17 3648912 frameshift variant TCCTT/- del 0.700 0
Nephropathic cystinosis
CUI: C2931187
Disease: Nephropathic cystinosis
55 0.882 0.160 17 3648912 frameshift variant TCCTT/- del 0.700 0