Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 ×
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: rs886039246
rs886039246 		1.000 0.040 22 31765061 splice donor variant G/A snv
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		Nervous System Diseases 0.700 1.000 2 2013 2014