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rs869320698

From SNPedia

ClinVar
Risk rs869320698(TGTTTTTTACATGACAGGT;TGTTTTTTACATGACAGGT)
Alt rs869320698(TGTTTTTTACATGACAGGT;TGTTTTTTACATGACAGGT)
Reference rs869320698(GTGTGGTGG;GTGTGGTGG)
Significance Pathogenic
Disease Adult polyglucosan body neuropathy
Variation info
Gene GBE1
CLNDBN Adult polyglucosan body neuropathy
Reversed 1
HGVS NC_000003.11:g.81542964_81542972delCCACCACACinsACCTGTCATGTAAAAAACA
CLNSRC OMIM Allelic Variant
CLNACC RCV000210799.1,