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rs797046055

From SNPedia

ClinVar
Risk rs797046055(C;C)
Alt rs797046055(C;C)
Reference rs797046055(;)
Significance Pathogenic
Disease Pontocerebellar hypoplasia type 2A
Variation info
Gene TSEN54 LLGL2
CLNDBN Pontocerebellar hypoplasia type 2A
Reversed 0
HGVS NC_000017.10:g.73519827dupC
CLNSRC
CLNACC RCV000194772.1,