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rs529502292

From SNPedia

ClinVar
Risk rs529502292(G;G)
Alt rs529502292(G;G)
Reference rs529502292(;)
Significance Pathogenic
Disease Glycogen storage disease
Variation info
Gene PYGL
CLNDBN Glycogen storage disease, type VI
Reversed 0
HGVS NC_000014.8:g.51378994dupG
CLNSRC
CLNACC RCV000174737.1,