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rs797044831

From SNPedia

ClinVar
Risk rs797044831(;)
Alt rs797044831(;)
Reference rs797044831(G;G)
Significance Pathogenic
Disease Ganglioside sialidase deficiency
Variation info
Gene PNPLA6 MCOLN1
CLNDBN Ganglioside sialidase deficiency
Reversed 0
HGVS NC_000019.9:g.7598448delG
CLNSRC
CLNACC RCV000192304.1,