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rs797045826

From SNPedia

ClinVar
Risk rs797045826(GT;GT)
Alt rs797045826(GT;GT)
Reference rs797045826(;)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176710872_176710873dupTG
CLNSRC
CLNACC RCV000195064.1,