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

rs794727497

From SNPedia

ClinVar
Risk rs794727497(;)
Alt rs794727497(;)
Reference rs794727497(TGTCCACAGTG;TGTCCACAGTG)
Significance Pathogenic
Disease Kabuki make-up syndrome
Variation info
Gene KMT2D
CLNDBN Kabuki make-up syndrome
Reversed 1
HGVS NC_000012.11:g.49448536_49448546delTGTGGACACAC
CLNSRC
CLNACC RCV000177176.1,