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rs587783931

From SNPedia

ClinVar
Risk rs587783931(;)
Alt rs587783931(;)
Reference rs587783931(AATATCTTGGAGAAG;AATATCTTGGAGAAG)
Significance Probable-Pathogenic
Disease Cornelia de Lange syndrome 1
Variation info
Gene NIPBL
CLNDBN Cornelia de Lange syndrome 1
Reversed 0
HGVS NC_000005.9:g.37003398_37003412delCTTGGAGAAGAATAT
CLNSRC
CLNACC RCV000146587.1,