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rs797045780

From SNPedia

ClinVar
Risk rs797045780(T;T)
Alt rs797045780(T;T)
Reference rs797045780(;)
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.37049260dupT
CLNSRC
CLNACC RCV000193077.1,