Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 5 ×
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: rs587780455
rs587780455 		0.827 0.160 12 51807116 missense variant A/G snv
CUI: C4310728
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 5
SEIZURES, BENIGN FAMILIAL INFANTILE, 5 		0.800 1.000 2 2016 2016
dbSNP: rs879255652
rs879255652 		0.807 0.120 12 51790425 stop gained G/A;T snv
CUI: C4310728
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 5
SEIZURES, BENIGN FAMILIAL INFANTILE, 5 		0.800 1.000 2 2016 2016
dbSNP: rs797045013
rs797045013 		0.925 0.160 12 51751523 missense variant C/T snv
CUI: C4310728
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 5
SEIZURES, BENIGN FAMILIAL INFANTILE, 5 		0.700 1.000 1 2014 2014
dbSNP: rs1064794727
rs1064794727 		0.882 0.160 12 51807092 missense variant T/C snv
CUI: C4310728
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 5
SEIZURES, BENIGN FAMILIAL INFANTILE, 5 		0.700 0
dbSNP: rs886044328
rs886044328 		0.882 0.160 12 51806363 missense variant G/A snv
CUI: C4310728
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 5
SEIZURES, BENIGN FAMILIAL INFANTILE, 5 		0.700 0