rs13078881(C;G)
From SNPedia
| Carrier of a biotinidase deficiency mutation |
| Is a | genotype |
| of | rs13078881 |
| Gene | BTD |
| Chromosome | 3 |
| Position | 15,645,186 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 6.7 | Biotinidase deficiency; note ability to treat & variable penetrance |
| (C;G) | 3 | Carrier of a biotinidase deficiency mutation |
| (G;G) | 0 | common in clinvar |
Unaffected in absence of another BTD gene mutation; see rs13078881
