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rs797045833

From SNPedia

ClinVar
Risk rs797045833(CTC;CTC)
Alt rs797045833(CTC;CTC)
Reference rs797045833(;)
Significance Probable-Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176720910_176720912dupTCC
CLNSRC
CLNACC RCV000193506.1,