SYNJ1, synaptojanin 1, 8867

N. diseases: 128; N. variants: 12
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53 ×
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: rs1569086116
rs1569086116 		0.925 21 32681650 splice acceptor variant T/C snv
CUI: C4479313
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53 		0.700 1.000 2 2015 2016
dbSNP: rs1057524877
rs1057524877 		1.000 21 32657036 missense variant T/C snv
CUI: C4479313
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53 		0.700 0
dbSNP: rs1057524878
rs1057524878 		1.000 21 32657766 stop gained C/T snv
CUI: C4479313
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53 		0.700 0
dbSNP: rs1057524879
rs1057524879 		1.000 21 32666564 frameshift variant A/- del
CUI: C4479313
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53 		0.700 0
dbSNP: rs1057524880
rs1057524880 		1.000 21 32645791 splice acceptor variant T/C snv
CUI: C4479313
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53 		0.700 0
dbSNP: rs1569147057
rs1569147057 		0.925 21 32728017 stop gained C/T snv
CUI: C4479313
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53 		0.700 0
dbSNP: rs778394516
rs778394516 		0.925 21 32656687 frameshift variant CTTAT/- del 8.1E-06
CUI: C4479313
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53 		0.700 0