rs1197981811, PKHD1

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.
Autosomal Recessive Polycystic Kidney Disease
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
317 1.000 0.120 6 52025059 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.700 1.000 10 2002 2015