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rs797044575

From SNPedia

ClinVar
Risk rs797044575(AGCTGCGGC;AGCTGCGGC)
Alt rs797044575(AGCTGCGGC;AGCTGCGGC)
Reference rs797044575(;)
Significance Pathogenic
Disease Alexander's disease
Variation info
Gene GFAP
CLNDBN Alexander's disease
Reversed 1
HGVS NC_000017.10:g.42992482_42992490dupGCCGCAGCT
CLNSRC
CLNACC RCV000192124.1,