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

rs793888516

From SNPedia

ClinVar
Risk rs793888516(;)
Alt rs793888516(;)
Reference rs793888516(ACAGCAGCAACAGCAGCA;ACAGCAGCAACAGCAGCA)
Significance Probable-Pathogenic
Disease Kabuki make-up syndrome
Variation info
Gene KMT2D
CLNDBN Kabuki make-up syndrome
Reversed 1
HGVS NC_000012.11:g.49426675_49426692del18
CLNSRC
CLNACC RCV000172954.1,