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rs797045191(A;A)

From SNPedia

Brown-Vialetto-Van Laere syndrome type 1 mutation; riboflavin treatment recommended
Is agenotype
ofrs797045191
GeneSLC52A3
Chromosome20
Position765,615
mentionedby
Magnitude8
ReputeBad
Geno Mag Summary
(A;A) 8 Brown-Vialetto-Van Laere syndrome type 1 mutation; 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 recommendation for immediate riboflavin supplementation.