Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1064794321
rs1064794321
SGCE ; CASD1
0.800 GeneticVariation UNIPROT EFNS guidelines on diagnosis and treatment of primary dystonias. 20482602

2011
dbSNP: rs1064794321
rs1064794321
SGCE ; CASD1
G 0.800 CausalMutation CLINVAR Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutations. 18175340

2008
dbSNP: rs1064794321
rs1064794321
SGCE ; CASD1
G 0.800 CausalMutation CLINVAR No muscle involvement in myoclonus-dystonia caused by epsilon-sarcoglycan gene mutations. 18355305

2008
dbSNP: rs1064794321
rs1064794321
SGCE ; CASD1
G 0.800 CausalMutation CLINVAR A major locus for myoclonus-dystonia maps to chromosome 7q in eight families. 11022010

2000