STXBP1, syntaxin binding protein 1, 6812

N. diseases: 213; N. variants: 62
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: rs121918317
rs121918317 		1.000 0.040 9 127682489 missense variant G/A;T snv
CUI: C2677326
Disease: Epileptic Encephalopathy, Early Infantile, 4
Epileptic Encephalopathy, Early Infantile, 4 		Nervous System Diseases 0.800 1.000 11 2008 2017
dbSNP: rs121918318
rs121918318 		1.000 0.040 9 127663314 missense variant G/A snv
CUI: C2677326
Disease: Epileptic Encephalopathy, Early Infantile, 4
Epileptic Encephalopathy, Early Infantile, 4 		Nervous System Diseases 0.800 1.000 11 2008 2017
dbSNP: rs121918319
rs121918319 		1.000 0.040 9 127676722 missense variant T/G snv
CUI: C2677326
Disease: Epileptic Encephalopathy, Early Infantile, 4
Epileptic Encephalopathy, Early Infantile, 4 		Nervous System Diseases 0.800 1.000 11 2008 2017
dbSNP: rs121918320
rs121918320 		1.000 0.040 9 127660034 missense variant T/A snv
CUI: C2677326
Disease: Epileptic Encephalopathy, Early Infantile, 4
Epileptic Encephalopathy, Early Infantile, 4 		Nervous System Diseases 0.800 1.000 11 2008 2017
dbSNP: rs587777310
rs587777310 		0.925 0.040 9 127668132 missense variant G/A snv
CUI: C2677326
Disease: Epileptic Encephalopathy, Early Infantile, 4
Epileptic Encephalopathy, Early Infantile, 4 		Nervous System Diseases 0.800 1.000 11 2008 2017
dbSNP: rs1554776842
rs1554776842 		9 127660080 frameshift variant C/- delins
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 27 1998 2016
dbSNP: rs1554777375
rs1554777375 		9 127665304 frameshift variant -/A delins
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 27 1998 2016
dbSNP: rs1554777375
rs1554777375 		9 127665304 frameshift variant -/A delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 27 1998 2016
dbSNP: rs1554777919
rs1554777919 		9 127669950 frameshift variant G/- delins
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 27 1998 2016
dbSNP: rs1554777919
rs1554777919 		9 127669950 frameshift variant G/- delins
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 27 1998 2016
dbSNP: rs1554778941
rs1554778941 		9 127682485 frameshift variant G/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 27 1998 2016
dbSNP: rs1554778941
rs1554778941 		9 127682485 frameshift variant G/- delins
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 27 1998 2016
dbSNP: rs767199598
rs767199598 		9 127682451 stop gained C/A;T snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 27 1998 2016
dbSNP: rs796053361
rs796053361 		0.925 0.040 9 127668160 missense variant G/A;T snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 27 1998 2016
dbSNP: rs796053361
rs796053361 		0.925 0.040 9 127668160 missense variant G/A;T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 27 1998 2016
dbSNP: rs886041246
rs886041246 		0.925 0.040 9 127675910 missense variant G/A;T snv
CUI: C2677326
Disease: Epileptic Encephalopathy, Early Infantile, 4
Epileptic Encephalopathy, Early Infantile, 4 		Nervous System Diseases 0.700 1.000 6 2010 2016
dbSNP: rs796053355
rs796053355 		0.925 0.040 9 127663343 missense variant C/T snv
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		Nervous System Diseases 0.700 1.000 4 2013 2015
dbSNP: rs796053361
rs796053361 		0.925 0.040 9 127668160 missense variant G/A;T snv
CUI: C2677326
Disease: Epileptic Encephalopathy, Early Infantile, 4
Epileptic Encephalopathy, Early Infantile, 4 		Nervous System Diseases 0.700 1.000 4 2014 2016
dbSNP: rs886041246
rs886041246 		0.925 0.040 9 127675910 missense variant G/A;T snv
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		Nervous System Diseases 0.700 1.000 4 2010 2015
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: rs794727792
rs794727792 		0.827 0.120 9 127661140 stop gained C/A;T snv 4.0E-06
CUI: C2677326
Disease: Epileptic Encephalopathy, Early Infantile, 4
Epileptic Encephalopathy, Early Infantile, 4 		Nervous System Diseases 0.700 1.000 3 2012 2016
dbSNP: rs796053359
rs796053359 		1.000 0.040 9 127666205 stop gained C/G;T snv
CUI: C2677326
Disease: Epileptic Encephalopathy, Early Infantile, 4
Epileptic Encephalopathy, Early Infantile, 4 		Nervous System Diseases 0.700 1.000 3 2010 2015
dbSNP: rs796053361
rs796053361 		0.925 0.040 9 127668160 missense variant G/A;T snv
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		Nervous System Diseases 0.700 1.000 3 2014 2017
dbSNP: rs796053368
rs796053368 		0.925 0.040 9 127678510 missense variant C/T snv
CUI: C2677326
Disease: Epileptic Encephalopathy, Early Infantile, 4
Epileptic Encephalopathy, Early Infantile, 4 		Nervous System Diseases 0.700 1.000 3 2011 2015
dbSNP: rs796053373
rs796053373 		1.000 0.040 9 127682509 missense variant C/A;T snv
CUI: C2677326
Disease: Epileptic Encephalopathy, Early Infantile, 4
Epileptic Encephalopathy, Early Infantile, 4 		Nervous System Diseases 0.700 1.000 3 2013 2016