Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387907125
rs387907125
0.800 GeneticVariation UNIPROT Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. 22832103

2012

dbSNP: rs387907125
rs387907125
0.800 GeneticVariation UNIPROT PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. 22243967

2012

dbSNP: rs387907125
rs387907125
A 0.800 CausalMutation CLINVAR