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rs797044817

From SNPedia

ClinVar
Risk
Alt
Reference Rs797044817(CTT;CTT)
Significance Pathogenic
Disease Ganglioside sialidase deficiency
Variation info
Gene MCOLN1
CLNDBN Ganglioside sialidase deficiency
Reversed 0
HGVS NC_000019.9:g.7594073_7594075delCTT
CLNSRC
CLNACC RCV000192301.1,