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rs797045502

From SNPedia

ClinVar
Risk rs797045502(TT;TT)
Alt rs797045502(TT;TT)
Reference rs797045502(;)
Significance Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
HGVS NC_000016.9:g.3860751_3860752dupAA
CLNSRC
CLNACC RCV000192380.1,