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rs797045762

From SNPedia

ClinVar
Risk
Alt
Reference Rs797045762(CT;CT)
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.37010299_37010300delCT
CLNSRC
CLNACC RCV000192461.1,