Source: ALL
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: rs1208636573
rs1208636573
MSTO1 ; LOC105371452
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1553920379
rs1553920379
PPP3CA
AAAGT 0.700 CausalMutation CLINVAR

dbSNP: rs622288
rs622288
MSTO1 ; LOC105371452
T 0.700 GeneticVariation CLINVAR