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rs797045610

From SNPedia

ClinVar
Risk rs797045610(;)
Alt rs797045610(;)
Reference rs797045610(TTGA;TTGA)
Significance Pathogenic
Disease Cornelia de Lange syndrome 5
Variation info
Gene HDAC8
CLNDBN Cornelia de Lange syndrome 5
Reversed 1
HGVS NC_000023.10:g.71791934_71791937delTCAA
CLNSRC
CLNACC RCV000194427.1,