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rs1060499531(A;A)

From SNPedia
Brown-Vialetto-Van Laere syndrome type 1 mutation; riboflavin treatment recommended
Is agenotype
ofrs1060499531
GeneSLC52A3
Chromosome20
Position761,143
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/normal

See discussion at Brown-Vialetto-Van laere syndrome, including recommendation for immediate riboflavin supplementation.