rs398124289, NPHP4

N. diseases: 1
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 1.000 0.080 1 5874973 frameshift variant -/GAGCG delins 1.2E-05 0.700 0