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rs797045194(C;C)

From SNPedia

common in clinvar
Is agenotype
ofrs797045194
GeneSLC52A3
Chromosome20
Position763,912
mentionedby
Magnitude0
ReputeGood
Geno Mag Summary
(A;A) 8 Brown-Vialetto-Van Laere syndrome type 1 mutation; riboflavin treatment recommended
(A;C) 3 Carrier of a Brown-Vialetto-Van Laere syndrome mutation
(C;C) 0 common in clinvar