STXBP1, syntaxin binding protein 1, 6812

N. diseases: 213; N. variants: 62
Disease: Epileptic encephalopathy ×
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: rs1057518985
rs1057518985 		1.000 0.040 9 127673233 missense variant C/A;T snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		Nervous System Diseases 0.700 0
dbSNP: rs1057519537
rs1057519537 		1.000 0.040 9 127682423 stop gained G/A snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		Nervous System Diseases 0.700 0
dbSNP: rs1057519538
rs1057519538 		1.000 0.040 9 127651622 inframe deletion AAA/- del
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		Nervous System Diseases 0.700 0
dbSNP: rs1057519539
rs1057519539 		1.000 0.040 9 127678479 stop gained G/A;T snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		Nervous System Diseases 0.700 0
dbSNP: rs796053366
rs796053366 		0.925 0.040 9 127673250 stop gained C/T snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		Nervous System Diseases 0.700 0
dbSNP: rs796053367
rs796053367 		0.925 0.040 9 127675909 missense variant C/T snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		Nervous System Diseases 0.700 0