Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1805032
rs1805032
CACNB4
0.020 GeneticVariation BEFREE The human R482X CACNB4 mutation, responsible for a form of juvenile myoclonic epilepsy, prevents association with Ppp2r5 and nuclear targeting of the complex by altering Cacnb4 conformation. 22892567

2012
dbSNP: rs1805032
rs1805032
CACNB4
0.020 GeneticVariation BEFREE The premature-termination mutation R482X was identified in a patient with juvenile myoclonic epilepsy. 10762541

2000