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rs587784211

From SNPedia

ClinVar
Risk rs587784211(;)
Alt rs587784211(;)
Reference rs587784211(CCCAATCCTCTGGAA;CCCAATCCTCTGGAA)
Significance Probable-Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176720999_176721013delCAATCCTCTGGAACC
CLNSRC
CLNACC RCV000146942.1,