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rs104894438(A;G)

From SNPedia

dystonia due on GCH1 loss-of-function mutation
Is agenotype
ofrs104894438
GeneGCH1
Chromosome14
Position54,845,792
mentionedby
Magnitude4
ReputeBad
Geno Mag Summary
(A;G) 4 dystonia due on GCH1 loss-of-function mutation
(G;G) 0 common in clinvar

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