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rs587784052

From SNPedia

ClinVar
Risk rs587784052(;)
Alt rs587784052(;)
Reference rs587784052(CACAAATTGCAAGAGTAGT;CACAAATTGCAAGAGTAGT)
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.37064744_37064762del19
CLNSRC
CLNACC RCV000146737.1,