rs5030846(C;T)
From SNPedia
| Carrier of a phenylketonuria mutation |
| Is a | genotype |
| of | rs5030846 |
| Gene | PAH |
| Chromosome | 12 |
| Position | 102,852,930 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Carrier of a phenylketonuria mutation |
| (T;T) | 6 | Phenyketonuria |
Phenylketonuria mutation carrier; unaffected unless a second PKU mutation is present.
