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rs797045784

From SNPedia

ClinVar
Risk rs797045784(TA;TA)
Alt rs797045784(TA;TA)
Reference rs797045784(;)
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.37061101_37061102dupTA
CLNSRC
CLNACC RCV000192441.1,