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rs587783944

From SNPedia

ClinVar
Risk rs587783944(;)
Alt rs587783944(;)
Reference rs587783944(AAAATGTCAGTGA;AAAATGTCAGTGA)
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.37008145_37008157delAAATGTCAGTGAA
CLNSRC
CLNACC RCV000146604.1,