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rs793888516

From SNPedia

ClinVar
Risk rs793888516(-;-)
Alt rs793888516(-;-)
Reference Rs793888516(ACAGCAGCAACAGCAGCA;ACAGCAGCAACAGCAGCA)
Significance Probable-Pathogenic
Disease Kabuki syndrome 1
Variation info
Gene KMT2D
CLNDBN Kabuki syndrome 1
Reversed 1
HGVS NC_000012.11:g.49426675_49426692del18
CLNSRC
CLNACC RCV000172954.1,