Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553121073
rs1553121073
DHDDS
0.700 GeneticVariation UNIPROT High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. 29100083

2017