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rs797044821

From SNPedia

ClinVar
Risk rs797044821(;)
Alt rs797044821(;)
Reference rs797044821(CC;CC)
Significance Pathogenic
Disease Ganglioside sialidase deficiency
Variation info
Gene MCOLN1
CLNDBN Ganglioside sialidase deficiency
Reversed 0
HGVS NC_000019.9:g.7591714_7591715delCC
CLNSRC
CLNACC RCV000192306.1,