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rs797045491

From SNPedia

ClinVar
Risk rs797045491(TG;TG)
Alt rs797045491(TG;TG)
Reference rs797045491(;)
Significance Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
HGVS NC_000016.9:g.3900747_3900748dupCA
CLNSRC
CLNACC RCV000195252.1,