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rs797046052

From SNPedia

ClinVar
Risk rs797046052(;)
Alt rs797046052(;)
Reference rs797046052(AAC;AAC)
Significance Probable-Pathogenic
Disease Pontocerebellar hypoplasia type 2B
Variation info
Gene TSEN2
CLNDBN Pontocerebellar hypoplasia type 2B
Reversed 0
HGVS NC_000003.11:g.12531440_12531442delCAA
CLNSRC
CLNACC RCV000193111.1,