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rs797045559

From SNPedia

ClinVar
Risk rs797045559(T;T)
Alt rs797045559(T;T)
Reference rs797045559(;)
Significance Pathogenic
Disease Rubinstein-Taybi syndrome 2
Variation info
Gene EP300
CLNDBN Rubinstein-Taybi syndrome 2
Reversed 0
HGVS NC_000022.10:g.41572307dupT
CLNSRC
CLNACC RCV000194142.1,