Gene: STXBP1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1564351388
rs1564351388
STXBP1
CT 0.700 CausalMutation CLINVAR STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. 26865513

2016
dbSNP: rs1554776954
rs1554776954
STXBP1
T 0.700 CausalMutation CLINVAR

dbSNP: rs794727792
rs794727792
STXBP1
T 0.700 CausalMutation CLINVAR

dbSNP: rs796053353
rs796053353
STXBP1
T 0.700 CausalMutation CLINVAR