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

rs797044744

From SNPedia

ClinVar
Risk rs797044744(A;A)
Alt rs797044744(A;A)
Reference rs797044744(;)
Significance Pathogenic
Disease Kabuki make-up syndrome
Variation info
Gene KMT2D
CLNDBN Kabuki make-up syndrome
Reversed 1
HGVS NC_000012.11:g.49420864dupT
CLNSRC
CLNACC RCV000178652.1,