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rs797045486

From SNPedia

ClinVar
Risk rs797045486(C;C)
Alt rs797045486(C;C)
Reference rs797045486(;)
Significance Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
HGVS NC_000016.9:g.3900814dupG
CLNSRC
CLNACC RCV000192951.1,