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rs797045823

From SNPedia

ClinVar
Risk rs797045823(TGAC;TGAC)
Alt rs797045823(TGAC;TGAC)
Reference rs797045823(;)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176696706_176696709dupGACT
CLNSRC
CLNACC RCV000195162.1,