rs104894442(C;C)
From SNPedia
| dystonia due to autosomal recessive GCH1 mutation |
| Is a | genotype |
| of | rs104894442 |
| Gene | GCH1 |
| Chromosome | 14 |
| Position | 54,844,023 |
| mentioned | by |
| Magnitude | 4 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 4 | dystonia due to autosomal recessive GCH1 mutation |
| (C;G) | 3 | Carrier of a dopa-responsive dystonia mutation |
| (G;G) | 0 | common in clinvar |
The degree of dystonia may vary. See the SNPedia GCH1 page for discussion.
