rs137852633(G;G)
From SNPedia
dystonia due to autosomal recessive GCH1 mutation |
Is a | genotype |
of | rs137852633 |
Gene | GCH1 |
Chromosome | 14 |
Position | 54,845,799 |
mentioned | by |
Magnitude | 4 |
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 |
The degree of dystonia may vary. See the SNPedia GCH1 page for discussion.