rs1553948516, SCARB2

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.
Action Myoclonus-Renal Failure Syndrome
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
20 0.925 0.120 4 76181009 frameshift variant -/G delins 0.700 0
Myoclonus
CUI: C0027066
Disease: Myoclonus
34 0.925 0.120 4 76181009 frameshift variant -/G delins 0.700 0
Renal Insufficiency
CUI: C1565489
Disease: Renal Insufficiency
42 0.925 0.120 4 76181009 frameshift variant -/G delins 0.700 0