Disease: Epileptic encephalopathy ×
Source: CURATED ×
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: rs1057519545
rs1057519545 		1.000 0.040 6 33435225 missense variant G/C snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		Nervous System Diseases 0.700 0