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 0.925 0.080 17 3659855 splice region variant C/G;T snv 4.0E-06 0.700 0
Cystinosis, benign, nonnephropathic
CUI: C2931013
Disease: Cystinosis, benign, nonnephropathic
12 0.925 0.080 17 3659855 splice region variant C/G;T snv 4.0E-06 0.700 0