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rs797044822

From SNPedia

ClinVar
Risk rs797044822(T;T)
Alt rs797044822(T;T)
Reference rs797044822(;)
Significance Pathogenic
Disease Ganglioside sialidase deficiency
Variation info
Gene MCOLN1
CLNDBN Ganglioside sialidase deficiency
Reversed 0
HGVS NC_000019.9:g.7594062dupT
CLNSRC
CLNACC RCV000192307.1,