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rs875989807

From SNPedia

ClinVar
Risk rs875989807(;)
Alt rs875989807(;)
Reference rs875989807(GCAACAGCAGCA;GCAACAGCAGCA)
Significance Probable-Pathogenic
Disease Rubinstein-Taybi syndrome 2
Variation info
Gene EP300
CLNDBN Rubinstein-Taybi syndrome 2
Reversed 0
HGVS NC_000022.10:g.41574289_41574300delCAGCAGCAACAG
CLNSRC
CLNACC RCV000211093.1,