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rs104894444(C;T)

From SNPedia

dystonia due on GCH1 loss-of-function mutation
Is agenotype
ofrs104894444
GeneGCH1
Chromosome14
Position54,902,522
mentionedby
Magnitude4
ReputeBad
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 4 dystonia due on GCH1 loss-of-function mutation

The degree of dystonia may vary; see the discussion on the SNPedia GCH1 webpage.