rs727502783, SCARB2

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.
Action Myoclonus-Renal Failure Syndrome
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
20 1.000 0.040 4 76168400 splice donor variant -/A delins 8.0E-06 0.700 1.000 1 2011 2011