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rs863223285

From SNPedia

ClinVar
Risk rs863223285(;)
Alt rs863223285(;)
Reference rs863223285(AG;AG)
Significance Pathogenic
Disease Myoclonic dystonia
Variation info
Gene SGCE
CLNDBN Myoclonic dystonia
Reversed 1
HGVS NC_000007.13:g.94248112_94248113delCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000006135.4,