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rs267606686(A;A)

From SNPedia
Brown-Vialetto-Van Laere Syndrome; riboflavin treatment recommended
Is agenotype
ofrs267606686
GeneSLC52A3
Chromosome20
Position765,669
mentionedby
Magnitude7
ReputeBad
Geno Mag Summary
(A;A) 7 Brown-Vialetto-Van Laere Syndrome; riboflavin treatment recommended
(A;G) 3 Carrier of a Brown-Vialetto-Van Laere syndrome mutation
(G;G) 0 common in clinvar

See discussion at Brown-Vialetto-Van laere syndrome, including discussion of riboflavin supplementation