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rs1057516189

From SNPedia
ClinVar
Risk rs1057516189(CTGCAGAAGGTGA;CTGCAGAAGGTGA)
Alt rs1057516189(CTGCAGAAGGTGA;CTGCAGAAGGTGA)
Reference Rs1057516189(-;-)
Significance Pathogenic
Disease Glycogen storage disease
Variation info
Gene GAA
CLNDBN Glycogen storage disease, type II
Reversed 0
HGVS NC_000017.10:g.78092509_78092521dupCAGAAGGTGACTG
CLNSRC
CLNACC RCV000408809.1,