Disease: Infantile Severe Myoclonic Epilepsy ×
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: rs781204054
rs781204054 		0.925 0.040 2 165312036 missense variant T/G snv 5.2E-05 7.0E-06
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		Nervous System Diseases 0.010 1.000 1 2015 2015