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rs797045819

From SNPedia

ClinVar
Risk rs797045819(AAGAGATTCC;AAGAGATTCC)
Alt rs797045819(AAGAGATTCC;AAGAGATTCC)
Reference rs797045819(;)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176673779_176673788dupAGAGATTCCA
CLNSRC
CLNACC RCV000192768.1,