rs778363575(G;G)
From SNPedia
common in clinvar |
Is a | genotype |
of | rs778363575 |
Gene | SLC52A3 |
Chromosome | 20 |
Position | 763,932 |
mentioned | by |
Magnitude | 0 |
Repute | Good |
Geno | Mag | Summary |
---|---|---|
(C;C) | 8 | Brown-Vialetto-Van Laere syndrome type 1 mutation; riboflavin treatment recommended |
(C;G) | 3 | Carrier of a Brown-Vialetto-Van Laere syndrome mutation |
(G;G) | 0 | common in clinvar |