Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs796053361
rs796053361
STXBP1
A 0.700 CausalMutation CLINVAR A new paradigm for West syndrome based on molecular and cell biology. 16806828

2006
dbSNP: rs796053361
rs796053361
STXBP1
A 0.700 CausalMutation CLINVAR Identification and characterization of the human ortholog of rat STXBP1, a protein implicated in vesicle trafficking and neurotransmitter release. 9545644

1998