rs1057518952, PKHD1

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.
Polycystic Kidney Diseases
CUI: C0022680
Disease: Polycystic Kidney Diseases
54 1.000 0.080 6 52024728 frameshift variant -/C delins 0.700 0
Renal cyst
CUI: C3887499
Disease: Renal cyst
17 1.000 0.080 6 52024728 frameshift variant -/C delins 0.700 0
Ventricular hypertrophy
CUI: C0340279
Disease: Ventricular hypertrophy
9 1.000 0.080 6 52024728 frameshift variant -/C delins 0.700 0