rs267606688(A;A)
From SNPedia
Brown-Vialetto-Van Laere Syndrome; riboflavin treatment recommended |
Is a | genotype |
of | rs267606688 |
Gene | SLC52A3 |
Chromosome | 20 |
Position | 765,693 |
mentioned | by |
Magnitude | 8 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(A;A) | 8 | Brown-Vialetto-Van Laere Syndrome; riboflavin treatment recommended |
(A;C) | 3 | Carrier of a Brown-Vialetto-Van Laere syndrome mutation |
(C;C) | 0 | common in clinvar |
See discussion at Brown-Vialetto-Van laere syndrome, including discussion of riboflavin supplementation