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rs797046086

From SNPedia

ClinVar
Risk rs797046086(AAGA;AAGA)
Alt rs797046086(AAGA;AAGA)
Reference rs797046086(;)
Significance Pathogenic
Disease Angelman syndrome
Variation info
Gene UBE3A
CLNDBN Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25585330_25585333dupTCTT
CLNSRC
CLNACC RCV000193045.1,