STXBP1, syntaxin binding protein 1, 6812

N. diseases: 213; N. variants: 62
Disease: Severe intellectual disability ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs796053356
rs796053356
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0036857
Disease:
Severe intellectual disability 		A 0.700 GeneticVariation CLINVAR