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: rs121918321
rs121918321 		0.925 0.040 9 127675855 stop gained C/T snv
CUI: C2677326
Disease: Epileptic Encephalopathy, Early Infantile, 4
Epileptic Encephalopathy, Early Infantile, 4 		Nervous System Diseases 0.700 1.000 2 2009 2015
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: rs587784453
rs587784453 		0.925 0.040 9 127666236 missense variant A/G snv
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		Nervous System Diseases 0.700 1.000 2 2015 2016
dbSNP: rs796053353
rs796053353 		0.882 0.120 9 127661192 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 2 2014 2015
dbSNP: rs796053355
rs796053355 		0.925 0.040 9 127663343 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 2 2013 2015
dbSNP: rs796053366
rs796053366 		0.925 0.040 9 127673250 stop gained C/T snv
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		Nervous System Diseases 0.700 1.000 2 2016 2016
dbSNP: rs886041978
rs886041978 		1.000 0.040 9 127668188 splice donor variant G/A;C snv
CUI: C2677326
Disease: Epileptic Encephalopathy, Early Infantile, 4
Epileptic Encephalopathy, Early Infantile, 4 		Nervous System Diseases 0.700 1.000 2 2011 2013
dbSNP: rs10819303
rs10819303 		9 127630675 intron variant G/A snv 0.32
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
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: rs1564351388
rs1564351388 		0.882 0.080 9 127666193 frameshift variant -/T delins
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1564351388
rs1564351388 		0.882 0.080 9 127666193 frameshift variant -/T delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2016 2016
dbSNP: rs1564351388
rs1564351388 		0.882 0.080 9 127666193 frameshift variant -/T delins
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1564351388
rs1564351388 		0.882 0.080 9 127666193 frameshift variant -/T delins
CUI: C2677326
Disease: Epileptic Encephalopathy, Early Infantile, 4
Epileptic Encephalopathy, Early Infantile, 4 		Nervous System Diseases 0.700 1.000 1 2016 2016
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: rs1057519501
rs1057519501 		1.000 0.040 9 127672093 stop gained C/T snv
CUI: C2677326
Disease: Epileptic Encephalopathy, Early Infantile, 4
Epileptic Encephalopathy, Early Infantile, 4 		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: rs1057522982
rs1057522982 		1.000 0.040 9 127678429 splice acceptor variant A/G;T snv
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		Nervous System Diseases 0.700 0
dbSNP: rs1060501722
rs1060501722 		1.000 0.040 9 127678505 stop gained G/A;C snv
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		Nervous System Diseases 0.700 0
dbSNP: rs1060501723
rs1060501723 		1.000 0.040 9 127660048 frameshift variant A/- del
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		Nervous System Diseases 0.700 0
dbSNP: rs1060501724
rs1060501724 		1.000 0.040 9 127661161 missense variant A/C snv
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		Nervous System Diseases 0.700 0
dbSNP: rs1316686443
rs1316686443 		1.000 0.040 9 127666293 missense variant A/G snv 7.0E-06
CUI: C2677326
Disease: Epileptic Encephalopathy, Early Infantile, 4
Epileptic Encephalopathy, Early Infantile, 4 		Nervous System Diseases 0.700 0
dbSNP: rs1554775960
rs1554775960 		1.000 0.040 9 127651654 splice donor variant T/C snv
CUI: C2677326
Disease: Epileptic Encephalopathy, Early Infantile, 4
Epileptic Encephalopathy, Early Infantile, 4 		Nervous System Diseases 0.700 0
dbSNP: rs1554776674
rs1554776674 		1.000 0.040 9 127658373 splice acceptor variant A/G snv
CUI: C2677326
Disease: Epileptic Encephalopathy, Early Infantile, 4
Epileptic Encephalopathy, Early Infantile, 4 		Nervous System Diseases 0.700 0