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rs756471180

From SNPedia

ClinVar
Risk rs756471180(C;C)
Alt rs756471180(C;C)
Reference rs756471180(;)
Significance Pathogenic
Disease Kabuki make-up syndrome
Variation info
Gene KMT2D
CLNDBN Kabuki make-up syndrome
Reversed 0
HGVS NC_000012.11:g.49441816dupC
CLNSRC
CLNACC RCV000174739.1,