CSTB, cystatin B, 1476

N. diseases: 155; N. variants: 14
Disease: Myoclonic Epilepsies, Progressive ×
Source: ALL
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: rs796943858
rs796943858 		0.882 0.080 21 43774280 frameshift variant GA/- delins 2.0E-05 5.6E-05
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
Myoclonic Epilepsies, Progressive 		Nervous System Diseases 0.700 1.000 5 1997 2008