rs398123068(A;A)
From SNPedia
common in clinvar |
Is a | genotype |
of | rs398123068 |
Gene | FBXL6, SLC52A2 |
Chromosome | 8 |
Position | 144,360,406 |
mentioned | by |
Magnitude | 0 |
Repute | Good |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;G) | 3 | Carrier of a Brown-Vialetto-Van Laere syndrome type 2 mutation |
(G;G) | 8 | Brown-Vialetto-Van Laere syndrome type 2 mutation; riboflavin treatment recommended |