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 STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. 26865513

2016
dbSNP: rs796053361
rs796053361
STXBP1
A 0.700 CausalMutation CLINVAR Epilepsy is not a mandatory feature of STXBP1 associated ataxia-tremor-retardation syndrome. 27184330

2016