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

rs797044740

From SNPedia

ClinVar
Risk rs797044740(G;G)
Alt rs797044740(G;G)
Reference rs797044740(;)
Significance Pathogenic
Disease Kabuki make-up syndrome
Variation info
Gene KMT2D
CLNDBN Kabuki make-up syndrome
Reversed 1
HGVS NC_000012.11:g.49424443dupC
CLNSRC
CLNACC RCV000178460.1,