STXBP1, syntaxin binding protein 1, 6812

N. diseases: 213; N. variants: 62
Disease: Severe global developmental delay ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554777480
rs1554777480
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C1837397
Disease:
Severe global developmental delay 		G 0.700 CausalMutation CLINVAR