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rs797045767

From SNPedia

ClinVar
Risk rs797045767(;)
Alt rs797045767(;)
Reference rs797045767(ATTGCTTG;ATTGCTTG)
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.37019457_37019464delGCTTGATT
CLNSRC
CLNACC RCV000194873.1,