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rs797045499

From SNPedia

ClinVar
Risk rs797045499(;)
Alt rs797045499(;)
Reference rs797045499(CCAGGCCTGT;CCAGGCCTGT)
Significance Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
HGVS NC_000016.9:g.3778932_3778941delACAGGCCTGG
CLNSRC
CLNACC RCV000194469.1,