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rs876661318

From SNPedia

ClinVar
Risk rs876661318(;)
Alt rs876661318(;)
Reference rs876661318(ATATACTCAGAATCCTGG;ATATACTCAGAATCCTGG)
Significance Pathogenic
Disease Rubinstein-Taybi syndrome 2
Variation info
Gene EP300
CLNDBN Rubinstein-Taybi syndrome 2
Reversed 0
HGVS NC_000022.10:g.41521907_41521924del18
CLNSRC
CLNACC RCV000223783.1,