STXBP1, syntaxin binding protein 1, 6812

N. diseases: 213; N. variants: 62
Disease: Infantile 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: rs796053353
rs796053353 		0.882 0.120 9 127661192 missense variant C/T snv
CUI: C1856408
Disease: Infantile encephalopathy
Infantile encephalopathy 		Nervous System Diseases 0.700 0