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rs797045778

From SNPedia

ClinVar
Risk rs797045778(A;A)
Alt rs797045778(A;A)
Reference rs797045778(;)
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.37048721dupA
CLNSRC
CLNACC RCV000194372.1,