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rs267606686(A;G)

From SNPedia

Carrier of a Brown-Vialetto-Van Laere syndrome mutation
Is agenotype
ofrs267606686
GeneSLC52A3
Chromosome20
Position765,669
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(A;A) 7 Brown-Vialetto-Van Laere Syndrome
(A;G) 3 Carrier of a Brown-Vialetto-Van Laere syndrome mutation
(G;G) 0 common in clinvar

Unaffected carrier in absence of second mutation; see discussion at Brown-Vialetto-Van laere syndrome.