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

rs797044819

From SNPedia

ClinVar
Risk rs797044819(;)
Alt rs797044819(;)
Reference rs797044819(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,