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rs1057517165

From SNPedia
ClinVar
Risk rs1057517165(-;-)
Alt rs1057517165(-;-)
Reference Rs1057517165(CAGTGCCCACA;CAGTGCCCACA)
Significance Pathogenic
Disease Glycogen storage disease
Variation info
Gene GAA
CLNDBN Glycogen storage disease, type II
Reversed 0
HGVS NC_000017.10:g.78078621_78078631delCCACACAGTGC
CLNSRC
CLNACC RCV000409689.1,