rs786204707, PKHD1

N. diseases: 4
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 0.200 6 52043636 stop gained C/T snv 0.700 1.000 1 2003 2003
Polycystic Kidney Diseases
CUI: C0022680
Disease: Polycystic Kidney Diseases
54 0.925 0.200 6 52043636 stop gained C/T snv 0.700 0
Renal cyst
CUI: C3887499
Disease: Renal cyst
17 0.925 0.200 6 52043636 stop gained C/T snv 0.700 0
Ventricular hypertrophy
CUI: C0340279
Disease: Ventricular hypertrophy
9 0.925 0.200 6 52043636 stop gained C/T snv 0.700 0