Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553122926
rs1553122926
DHDDS
0.800 GeneticVariation UNIPROT High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. 29100083

2017
dbSNP: rs1553122926
rs1553122926
DHDDS
A 0.800 CausalMutation CLINVAR

dbSNP: rs1553121073
rs1553121073
DHDDS
0.700 GeneticVariation UNIPROT High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. 29100083

2017
dbSNP: rs147394623
rs147394623
DHDDS
G 0.700 CausalMutation CLINVAR