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 0.882 0.120 16 4335060 missense variant T/C snv 0.710 1.000 1 2016 2016
NEPHRONOPHTHISIS 7
CUI: C1969092
Disease: NEPHRONOPHTHISIS 7
1 0.882 0.120 16 4335060 missense variant T/C snv 0.700 0
Hydrocephalus, Normal Pressure
CUI: C0020258
Disease: Hydrocephalus, Normal Pressure
6 0.882 0.120 16 4335060 missense variant T/C snv 0.010 1.000 1 2016 2016