STXBP1, syntaxin binding protein 1, 6812

N. diseases: 213; N. variants: 62
Disease: Muscular hypotonia of the trunk ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs794727792
rs794727792
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C1853743
Disease:
Muscular hypotonia of the trunk 		T 0.700 CausalMutation CLINVAR