STXBP1, syntaxin binding protein 1, 6812

N. diseases: 213; N. variants: 62
Disease: X-linked infantile spasms ×
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: 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: 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: 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: 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: 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: 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: rs1554776948
rs1554776948 		1.000 0.040 9 127661101 splice acceptor variant G/T snv
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		Nervous System Diseases 0.700 0
dbSNP: rs587777310
rs587777310 		0.925 0.040 9 127668132 missense variant G/A snv
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		Nervous System Diseases 0.700 0
dbSNP: rs751170778
rs751170778 		1.000 0.040 9 127668083 stop gained T/C;G snv 4.0E-06
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		Nervous System Diseases 0.700 0
dbSNP: rs796053368
rs796053368 		0.925 0.040 9 127678510 missense variant C/T snv
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		Nervous System Diseases 0.700 0