Gene: CACNA1E ×
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: rs886039323
rs886039323
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

dbSNP: rs869312920
rs869312920
CACNA1E
0.800 GeneticVariation UNIPROT

dbSNP: rs869312920
rs869312920
CACNA1E
C 0.800 CausalMutation CLINVAR

dbSNP: rs886039323
rs886039323
CACNA1E
A 0.800 CausalMutation CLINVAR

dbSNP: rs12131800
rs12131800
CACNA1E
0.700 GeneticVariation UNIPROT De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. 30343943

2018
dbSNP: rs1361083258
rs1361083258
CACNA1E
0.700 GeneticVariation UNIPROT De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. 30343943

2018
dbSNP: rs1553286282
rs1553286282
CACNA1E
0.700 GeneticVariation UNIPROT De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. 30343943

2018
dbSNP: rs1553345844
rs1553345844
CACNA1E
0.700 GeneticVariation UNIPROT De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. 30343943

2018
dbSNP: rs1558308998
rs1558308998
CACNA1E
G 0.700 CausalMutation CLINVAR