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rs797045832

From SNPedia

ClinVar
Risk rs797045832(;)
Alt rs797045832(;)
Reference rs797045832(AGCAGGTTGG;AGCAGGTTGG)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176719155_176719164delAGCAGGTTGG
CLNSRC
CLNACC RCV000192321.1,