Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs141191660
rs141191660
1.000 0.040 7 66639189 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
Myoclonic Epilepsies, Progressive
Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs387907261
rs387907261
0.925 0.040 7 66639180 missense variant A/G;T snv
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
Myoclonic Epilepsies, Progressive
Nervous System Diseases 0.010 1.000 1 2016 2016