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rs797045317

From SNPedia

ClinVar
Risk rs797045317(;)
Alt rs797045317(;)
Reference rs797045317(ACAG;ACAG)
Significance Pathogenic
Disease Bainbridge-Ropers syndrome
Variation info
Gene ASXL3
CLNDBN Bainbridge-Ropers syndrome
Reversed 0
HGVS NC_000018.9:g.31318560_31318563delACAG
CLNSRC
CLNACC RCV000193468.1,