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rs1057516329

From SNPedia

ClinVar
Risk rs1057516329(-;-)
Alt rs1057516329(-;-)
Reference Rs1057516329(ACTACCTGTCT;ACTACCTGTCT)
Significance Probable-Pathogenic
Disease Glycogen storage disease
Variation info
Gene PYGM
CLNDBN Glycogen storage disease, type V
Reversed 1
HGVS NC_000011.9:g.64526159_64526169delAGACAGGTAGT
CLNSRC
CLNACC RCV000412395.1,