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.
Nephronophthisis
CUI: C0687120
Disease: Nephronophthisis
103 0.925 0.080 3 132682077 inframe deletion CCT/- delins 0.700 1.000 1 2003 2003
NEPHRONOPHTHISIS 3
CUI: C1858392
Disease: NEPHRONOPHTHISIS 3
15 0.925 0.080 3 132682077 inframe deletion CCT/- delins 0.700 0