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 0.827 0.240 3 132689264 splice acceptor variant CT/- del 2.6E-04 0.700 1.000 4 2008 2016
RENAL-HEPATIC-PANCREATIC DYSPLASIA 1
CUI: C3715199
Disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 1
5 0.827 0.240 3 132689264 splice acceptor variant CT/- del 2.6E-04 0.700 1.000 3 2008 2016
Situs Inversus
CUI: C0037221
Disease: Situs Inversus
6 0.827 0.240 3 132689264 splice acceptor variant CT/- del 2.6E-04 0.700 1.000 3 2008 2016
NEPHRONOPHTHISIS 3
CUI: C1858392
Disease: NEPHRONOPHTHISIS 3
15 0.827 0.240 3 132689264 splice acceptor variant CT/- del 2.6E-04 0.700 0
Polycystic Kidney Diseases
CUI: C0022680
Disease: Polycystic Kidney Diseases
54 0.827 0.240 3 132689264 splice acceptor variant CT/- del 2.6E-04 0.700 0
Renal hepatic pancreatic dysplasia Dandy Walker cyst
CUI: C2673885
Disease: Renal hepatic pancreatic dysplasia Dandy Walker cyst
5 0.827 0.240 3 132689264 splice acceptor variant CT/- del 2.6E-04 0.700 0