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rs797045483

From SNPedia

ClinVar
Risk rs797045483(C;C)
Alt rs797045483(C;C)
Reference rs797045483(;)
Significance Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
HGVS NC_000016.9:g.3824675dupG
CLNSRC
CLNACC RCV000192496.1,