Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs778291283
rs778291283
CACNA1E
0.800 GeneticVariation UNIPROT De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. 30343943

2018
dbSNP: rs778291283
rs778291283
CACNA1E
C 0.800 CausalMutation CLINVAR