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rs797044823

From SNPedia

ClinVar
Risk rs797044823(CGCAGCAGGGC;CGCAGCAGGGC)
Alt rs797044823(CGCAGCAGGGC;CGCAGCAGGGC)
Reference rs797044823(;)
Significance Pathogenic
Disease Ganglioside sialidase deficiency
Variation info
Gene MCOLN1
CLNDBN Ganglioside sialidase deficiency
Reversed 0
HGVS NC_000019.9:g.7595265_7595275dupGGCCGCAGCAG
CLNSRC
CLNACC RCV000193040.1,