STXBP1, syntaxin binding protein 1, 6812

N. diseases: 213; N. variants: 62
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 ×
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: rs786205598
rs786205598 		0.925 0.040 9 127668159 missense variant C/T snv
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.700 1.000 3 2015 2016
dbSNP: rs1554778417
rs1554778417 		0.925 0.040 9 127675802 splice acceptor variant A/G snv
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.700 1.000 2 2010 2016
dbSNP: rs1564351103
rs1564351103 		1.000 9 127665275 stop gained C/T snv
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.700 1.000 1 2013 2013
dbSNP: rs1564333757
rs1564333757 		1.000 9 127612424 frameshift variant -/GCTGTTGTCGG delins
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.700 0
dbSNP: rs1564349850
rs1564349850 		1.000 9 127661119 frameshift variant T/- delins
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.700 0
dbSNP: rs1564352002
rs1564352002 		1.000 9 127668102 stop gained G/T snv
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.700 0