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rs104894440(A;C)

From SNPedia

dystonia due on GCH1 loss-of-function mutation
Is agenotype
ofrs104894440
GeneGCH1
Chromosome14
Position54,865,349
mentionedby
Magnitude4
ReputeBad
Geno Mag Summary
(A;A) 0 common in clinvar
(A;C) 4 dystonia due on GCH1 loss-of-function mutation

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