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rs797045662

From SNPedia

ClinVar
Risk rs797045662(A;A)
Alt rs797045662(A;A)
Reference rs797045662(;)
Significance Pathogenic
Disease Kabuki make-up syndrome
Variation info
Gene KMT2D
CLNDBN Kabuki make-up syndrome
Reversed 1
HGVS NC_000012.11:g.49443786dupT
CLNSRC
CLNACC RCV000193552.1,