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rs797045748

From SNPedia

ClinVar
Risk rs797045748(C;C)
Alt rs797045748(C;C)
Reference rs797045748(;)
Significance Pathogenic
Disease Cornelia de Lange syndrome 1
Variation info
Gene NIPBL
CLNDBN Cornelia de Lange syndrome 1
Reversed 0
HGVS NC_000005.9:g.36985274dupC
CLNSRC
CLNACC RCV000194718.1,