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rs797044830

From SNPedia

ClinVar
Risk rs797044830(;)
Alt rs797044830(;)
Reference rs797044830(TC;TC)
Significance Pathogenic
Disease Ganglioside sialidase deficiency
Variation info
Gene MCOLN1
CLNDBN Ganglioside sialidase deficiency
Reversed 0
HGVS NC_000019.9:g.7591389_7591390delTC
CLNSRC
CLNACC RCV000193619.1,