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rs797045814

From SNPedia

ClinVar
Risk rs797045814(G;G)
Alt rs797045814(G;G)
Reference rs797045814(;)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176638978dupG
CLNSRC
CLNACC RCV000193789.1,