rs104894435(A;G)
From SNPedia
Carrier of a dopa-responsive dystonia mutation |
Is a | genotype |
of | rs104894435 |
Gene | GCH1 |
Chromosome | 14 |
Position | 54,902,341 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(A;A) | 4 | dystonia due to autosomal recessive GCH1 mutation |
(A;G) | 3 | Carrier of a dopa-responsive dystonia mutation |
(G;G) | 0 | common in clinvar |
Likely to be unaffected in absence of another GCH1 gene mutation; see GCH1 webpage.