rs745770404, PKHD1

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.
Autosomal Recessive Polycystic Kidney Disease
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
317 0.925 0.120 6 52050157 missense variant C/T snv 1.6E-05 1.4E-05 0.800 1.000 12 2002 2015
Nephronophthisis
CUI: C0687120
Disease: Nephronophthisis
103 0.925 0.120 6 52050157 missense variant C/T snv 1.6E-05 1.4E-05 0.700 1.000 4 2002 2010