rs121907899, NPHP1

N. diseases: 2
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 2 110163048 missense variant C/A;T snv 4.0E-06; 1.2E-04 0.700 0
Nephronophthisis 1
CUI: C4551979
Disease: Nephronophthisis 1
6 0.925 0.080 2 110163048 missense variant C/A;T snv 4.0E-06; 1.2E-04 0.700 0