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rs587777466(T;T)

From SNPedia

Pontocerebellar hypoplasia type 2E
Is agenotype
ofrs587777466
GeneVPS53
Chromosome17
Position562,498
mentionedby
Magnitude9
ReputeBad
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a Pontocerebellar hypoplasia type 2E mutation
(G;G) 0 common in clinvar
(T;T) 9 Pontocerebellar hypoplasia type 2E

see Pontocerebellar hypoplasia type 2E and VPS53 gene