Have questions? Visit https://www.reddit.com/r/SNPedia

rs797045788

From SNPedia

ClinVar
Risk rs797045788(TT;TT)
Alt rs797045788(TT;TT)
Reference rs797045788(ATTAA;ATTAA)
Significance Probable-Pathogenic
Disease Cornelia de Lange syndrome 1
Variation info
Gene NIPBL
CLNDBN Cornelia de Lange syndrome 1
Reversed 0
HGVS NC_000005.9:g.37064875_37064879delATTAAinsTT
CLNSRC
CLNACC RCV000193586.1,