SERPINI1, serpin family I member 1, 5274

N. diseases: 58; N. variants: 7
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: rs121909053
rs121909053 		0.882 0.120 3 167825265 missense variant G/A snv
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
Myoclonic Epilepsies, Progressive 		Nervous System Diseases 0.010 1.000 1 2002 2002