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rs797045498

From SNPedia

ClinVar
Risk rs797045498(T;T)
Alt rs797045498(T;T)
Reference rs797045498(;)
Significance Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
HGVS NC_000016.9:g.3779111_3779112insA
CLNSRC
CLNACC RCV000193252.1,