Have questions? Visit https://www.reddit.com/r/SNPedia

rs797044817

From SNPedia

ClinVar
Risk rs797044817(;)
Alt rs797044817(;)
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,