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rs797045490

From SNPedia

ClinVar
Risk rs797045490(T;T)
Alt rs797045490(T;T)
Reference rs797045490(;)
Significance Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
HGVS NC_000016.9:g.3807958dupA
CLNSRC
CLNACC RCV000194047.1,