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: rs1135401736
rs1135401736 		0.882 0.040 19 35033664 missense variant C/T snv 7.0E-06
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		Nervous System Diseases 0.020 1.000 2 2009 2012
dbSNP: rs766910280
rs766910280 		0.882 0.040 19 35033556 missense variant C/T snv 1.2E-05 4.2E-05
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs931949929
rs931949929 		0.882 0.040 19 35033607 missense variant A/G;T snv
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		Nervous System Diseases 0.010 1.000 1 2012 2012