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rs797045770

From SNPedia

ClinVar
Risk rs797045770(TG;TG)
Alt rs797045770(TG;TG)
Reference rs797045770(;)
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.37020596_37020597insTG
CLNSRC
CLNACC RCV000194767.1,