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

rs797046054

From SNPedia

ClinVar
Risk rs797046054(AT;AT)
Alt rs797046054(AT;AT)
Reference rs797046054(;)
Significance Pathogenic
Disease Pontocerebellar hypoplasia type 2A
Variation info
Gene TSEN54 LLGL2
CLNDBN Pontocerebellar hypoplasia type 2A
Reversed 0
HGVS NC_000017.10:g.73519816_73519817insTA
CLNSRC
CLNACC RCV000193727.1,