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rs797045484

From SNPedia

ClinVar
Risk rs797045484(CC;CC)
Alt rs797045484(CC;CC)
Reference rs797045484(GTCTTCCGGGCA;GTCTTCCGGGCA)
Significance Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
HGVS NC_000016.9:g.3820761_3820772delTGCCCGGAAGACinsGG
CLNSRC
CLNACC RCV000193709.1,