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rs104894442(C;G)

From SNPedia
Carrier of a dopa-responsive dystonia mutation
Is agenotype
ofrs104894442
GeneGCH1
Chromosome14
Position54,844,023
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(C;C) 4 dystonia due to autosomal recessive GCH1 mutation
(C;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.