Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777494
rs587777494
HCN1
0.800 GeneticVariation UNIPROT HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond. 30351409

2018
dbSNP: rs587777494
rs587777494
HCN1
0.800 GeneticVariation UNIPROT Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. 27864847

2017
dbSNP: rs587777494
rs587777494
HCN1
0.800 GeneticVariation UNIPROT De novo mutations in HCN1 cause early infantile epileptic encephalopathy. 24747641

2014
dbSNP: rs587777494
rs587777494
HCN1
G 0.800 CausalMutation CLINVAR