rs137852633(C;G)
From SNPedia
| Carrier of a dopa-responsive dystonia mutation |
| Is a | genotype |
| of | rs137852633 |
| Gene | GCH1 |
| Chromosome | 14 |
| Position | 54,845,799 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;G) | 3 | Carrier of a dopa-responsive dystonia mutation |
| (G;G) | 4 | dystonia due to autosomal recessive GCH1 mutation |
Likely to be unaffected in absence of another GCH1 gene mutation; see GCH1 webpage.
