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rs797045764

From SNPedia

ClinVar
Risk rs797045764(TCCTGTCAACTAACATG;TCCTGTCAACTAACATG)
Alt rs797045764(TCCTGTCAACTAACATG;TCCTGTCAACTAACATG)
Reference rs797045764(;)
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.37014804_37014805insCCTGTCAACTAACATGT
CLNSRC
CLNACC RCV000194191.1,