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rs864309639

From SNPedia

ClinVar
Risk rs864309639(C;C)
Alt rs864309639(C;C)
Reference rs864309639(;)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176719146dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000004357.3,