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rs587778449

From SNPedia

ClinVar
Risk rs587778449(;)
Alt rs587778449(;)
Reference rs587778449(GCACCTGTCCCCCCGGCCTGAGGAGCC;GCACCTGTCCCCCCGGCCTGAGGAGCC)
Significance Probable-Pathogenic
Disease not specified Kabuki make-up syndrome
Variation info
Gene KMT2D
CLNDBN not specified Kabuki make-up syndrome
Reversed 1
HGVS NC_000012.11:g.49445190_49445216delGGCTCCTCAGGCCGGGGGGACAGGTGC
CLNSRC
CLNACC RCV000121368.1, RCV000146194.1,