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.
Norrie disease
CUI: C0266526
Disease: Norrie disease
28 1.000 0.160 X 43949899 missense variant G/A snv 0.800 1.000 20 1992 2010