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

rs797045768

From SNPedia

ClinVar
Risk rs797045768(ACTG;ACTG)
Alt rs797045768(ACTG;ACTG)
Reference rs797045768(;)
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.37019480_37019483dupCTGA
CLNSRC
CLNACC RCV000192335.1,