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rs796065328

From SNPedia

ClinVar
Risk rs796065328(C;C)
Alt rs796065328(C;C)
Reference rs796065328(;)
Significance Pathogenic
Disease Kabuki make-up syndrome
Variation info
Gene KMT2D
CLNDBN Kabuki make-up syndrome
Reversed 1
HGVS NC_000012.11:g.49443789dupG
CLNSRC
CLNACC RCV000174075.1,