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rs797045811

From SNPedia

ClinVar
Risk rs797045811(;)
Alt rs797045811(;)
Reference rs797045811(AAAGAGG;AAAGAGG)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176638659_176638665delAAAGAGG
CLNSRC
CLNACC RCV000193091.1,