rs104894434(C;T)
From SNPedia
| Carrier of a dopa-responsive dystonia mutation |
| Is a | genotype |
| of | rs104894434 |
| Gene | GCH1 |
| Chromosome | 14 |
| Position | 54,844,108 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 4 | dystonia due to autosomal recessive GCH1 mutation |
| (C;T) | 3 | Carrier of a dopa-responsive dystonia mutation |
| (T;T) | 0 | common in clinvar |
Likely to be unaffected in absence of another GCH1 gene mutation; see GCH1 webpage.
