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rs863223283

From SNPedia

ClinVar
Risk rs863223283(;)
Alt rs863223283(;)
Reference rs863223283(ACAAA;ACAAA)
Significance Pathogenic
Disease Myoclonic dystonia
Variation info
Gene SGCE
CLNDBN Myoclonic dystonia
Reversed 1
HGVS NC_000007.13:g.94230156_94230160delTTTGT
CLNSRC OMIM Allelic Variant
CLNACC RCV000006128.6,