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rs797044592

From SNPedia

ClinVar
Risk rs797044592(ATC;ATC)
Alt rs797044592(ATC;ATC)
Reference rs797044592(GTTAGCTG;GTTAGCTG)
Significance Pathogenic
Disease Alexander's disease
Variation info
Gene GFAP
CLNDBN Alexander's disease
Reversed 1
HGVS NC_000017.10:g.42987501_42987508delCAGCTAACinsGAT
CLNSRC
CLNACC RCV000192189.1,