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rs104894435(A;A)

From SNPedia
dystonia due to autosomal recessive GCH1 mutation
Is agenotype
ofrs104894435
GeneGCH1
Chromosome14
Position54,902,341
mentionedby
Magnitude4
ReputeBad
Geno Mag Summary
(A;A) 4 dystonia due to autosomal recessive GCH1 mutation
(A;G) 3 Carrier of a dopa-responsive dystonia mutation
(G;G) 0 common in clinvar

The degree of dystonia may vary. See the SNPedia GCH1 page for discussion.