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rs587784207

From SNPedia

ClinVar
Risk rs587784207(;)
Alt rs587784207(;)
Reference rs587784207(CAGCTCCTTTTGTAAGCAG;CAGCTCCTTTTGTAAGCAG)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176720908_176720926del19
CLNSRC
CLNACC RCV000146938.1,