rs747483368, PKD1

N. diseases: 3
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 0.240 16 2114808 missense variant G/A;C snv 8.1E-06 0.700 0
Polycystic Kidney Diseases
CUI: C0022680
Disease: Polycystic Kidney Diseases
54 0.925 0.240 16 2114808 missense variant G/A;C snv 8.1E-06 0.700 0
Polycystic liver disease
CUI: C0158683
Disease: Polycystic liver disease
17 0.925 0.240 16 2114808 missense variant G/A;C snv 8.1E-06 0.700 0