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rs797045997

From SNPedia

ClinVar
Risk rs797045997(AAG;AAG)
Alt rs797045997(AAG;AAG)
Reference rs797045997(;)
Significance Probable-Pathogenic
Disease Cornelia de Lange syndrome 3
Variation info
Gene SMC3
CLNDBN Cornelia de Lange syndrome 3
Reversed 0
HGVS NC_000010.10:g.112343196_112343198dupGAA
CLNSRC
CLNACC RCV000192327.1,