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rs76947760(A;A)

From SNPedia

common in clinvar
Is agenotype
ofrs76947760
GeneSLC52A3
Chromosome20
Position763,523
mentionedby
Magnitude0
ReputeGood
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 3 Carrier of a Brown-Vialetto-Van Laere syndrome mutation
(T;T) 8 Brown-Vialetto-Van Laere syndrome type 1 mutation; riboflavin treatment recommended