Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908492
rs121908492
A 0.700 CausalMutation CLINVAR Defining the epsilon-sarcoglycan (SGCE) gene phenotypic signature in myoclonus-dystonia: a reappraisal of genetic testing criteria. 23677909

2013

dbSNP: rs121908492
rs121908492
A 0.700 CausalMutation CLINVAR Myoclonus-dystonia: significance of large SGCE deletions. 18205193

2008

dbSNP: rs121908492
rs121908492
A 0.700 CausalMutation CLINVAR The epsilon-sarcoglycan gene in myoclonic syndromes. 15728306

2005