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rs879255577

From SNPedia
ClinVar
Risk rs879255577(GTTTGGCAG;GTTTGGCAG)
Alt rs879255577(GTTTGGCAG;GTTTGGCAG)
Reference Rs879255577(TGGTGGGGCTTT;TGGTGGGGCTTT)
Significance Pathogenic
Disease Epilepsy
Variation info
Gene ADRA2B
CLNDBN Epilepsy, familial adult myoclonic 2
Reversed 1
HGVS NC_000002.11:g.96781203_96781214delAAAGCCCCACCAinsCTGCCAAAC
CLNSRC OMIM Allelic Variant
CLNACC RCV000172992.2,