i5008314
From SNPedia
23andMe data | I5008314 |
23andMe search | I5008314 |
opensnp | I5008314 |
Gene (via rs) | SLC52A3 |
alias | rs267606684 |
Rs_StabilizedOrientation | minus |
RsGeno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | Carrier of a Brown-Vialetto-Van Laere syndrome mutation |
(T;T) | 8 | Brown-Vialetto-Van Laere Syndrome; riboflavin treatment recommended |