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rs797045694

From SNPedia

ClinVar
Risk rs797045694(;)
Alt rs797045694(;)
Reference rs797045694(AGGACCTCCAG;AGGACCTCCAG)
Significance Pathogenic
Disease Rett syndrome
Variation info
Gene MECP2
CLNDBN Rett syndrome
Reversed 1
HGVS NC_000023.10:g.153297978_153297988delCTGGAGGTCCT
CLNSRC
CLNACC RCV000193568.1,