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rs797045749

From SNPedia

ClinVar
Risk rs797045749(AG;AG)
Alt rs797045749(AG;AG)
Reference rs797045749(;)
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.36955721_36955722dupAG
CLNSRC
CLNACC RCV000192596.1,