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rs797045667

From SNPedia

ClinVar
Risk rs797045667(G;G)
Alt rs797045667(G;G)
Reference rs797045667(;)
Significance Pathogenic
Disease Kabuki make-up syndrome
Variation info
Gene KMT2D
CLNDBN Kabuki make-up syndrome
Reversed 1
HGVS NC_000012.11:g.49438288dupC
CLNSRC
CLNACC RCV000193869.1,