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rs797045560

From SNPedia

ClinVar
Risk rs797045560(;)
Alt rs797045560(;)
Reference rs797045560(CAAT;CAAT)
Significance Pathogenic
Disease Rubinstein-Taybi syndrome 2
Variation info
Gene EP300
CLNDBN Rubinstein-Taybi syndrome 2
Reversed 0
HGVS NC_000022.10:g.41574630_41574633delTCAA
CLNSRC
CLNACC RCV000193166.1,