rs13078881(C;C)
From SNPedia
Biotinidase deficiency; note ability to treat & variable penetrance |
Is a | genotype |
of | rs13078881 |
Gene | BTD |
Chromosome | 3 |
Position | 15,645,186 |
mentioned | by |
Magnitude | 6.7 |
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 |
see rs13078881