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rs797045753

From SNPedia

ClinVar
Risk rs797045753(G;G)
Alt rs797045753(G;G)
Reference rs797045753(;)
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.36958261_36958262insG
CLNSRC
CLNACC RCV000194119.1,