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rs797045643

From SNPedia

ClinVar
Risk rs797045643(T;T)
Alt rs797045643(T;T)
Reference rs797045643(;)
Significance Probable-Pathogenic
Disease Kabuki syndrome 2
Variation info
Gene KDM6A
CLNDBN Kabuki syndrome 2
Reversed 0
HGVS NC_000023.10:g.44936073dupT
CLNSRC
CLNACC RCV000194978.1,