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

rs755042147

From SNPedia

ClinVar
Risk rs755042147(;)
Alt rs755042147(;)
Reference rs755042147(T;T)
Significance Pathogenic
Disease Ganglioside sialidase deficiency
Variation info
Gene MCOLN1
CLNDBN Ganglioside sialidase deficiency
Reversed 0
HGVS NC_000019.9:g.7593525delT
CLNSRC
CLNACC RCV000194725.1,