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rs1057517058

From SNPedia

ClinVar
Risk rs1057517058(-;-)
Alt rs1057517058(-;-)
Reference Rs1057517058(AGCAGCTGAGCAGT;AGCAGCTGAGCAGT)
Significance Probable-Pathogenic
Disease Glycogen storage disease
Variation info
Gene PYGM RASGRP2
CLNDBN Glycogen storage disease, type V
Reversed 1
HGVS NC_000011.9:g.64514764_64514777delACTGCTCAGCTGCT
CLNSRC
CLNACC RCV000411646.1,