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rs267607501

From SNPedia

ClinVar
Risk rs267607501(GAGT;GAGT)
Alt rs267607501(GAGT;GAGT)
Reference rs267607501(AAGG;AAGG)
Significance Pathogenic
Disease not provided Alexander's disease
Variation info
Gene GFAP
CLNDBN not provided Alexander's disease
Reversed 1
HGVS NC_000017.10:g.42992596_42992599delCCTTinsACTC
CLNSRC
CLNACC RCV000056874.1, RCV000192116.1,