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rs797045763

From SNPedia

ClinVar
Risk rs797045763(GT;GT)
Alt rs797045763(GT;GT)
Reference rs797045763(;)
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.36961686_36961687dupGT
CLNSRC
CLNACC RCV000193348.1,