rs200053119, SCARB2

N. diseases: 2
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 0.040 4 76181016 stop gained G/A snv 8.0E-06 2.8E-05 0.700 1.000 1 2014 2014
Myoclonic Epilepsies, Progressive
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
17 0.925 0.040 4 76181016 stop gained G/A snv 8.0E-06 2.8E-05 0.700 1.000 1 2014 2014