rs369925690, PKHD1

N. diseases: 2
Source: CLINVAR ×
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
268 0.925 0.120 6 52071009 missense variant T/C;G snv 1.0E-04 0.800 1.000 13 2002 2015
Nephronophthisis
CUI: C0687120
Disease: Nephronophthisis
101 0.925 0.120 6 52071009 missense variant T/C;G snv 1.0E-04 0.700 1.000 4 2002 2010