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rs41298442(A;A)

From SNPedia
common in clinvar
Is agenotype
ofrs41298442
GeneGCH1
Chromosome14
Position54,844,099
mentionedby
Magnitude0
ReputeGood
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 4.5 Dopa-responsive dystonia (dominant) mutation
(G;G) 5 Dystonia (dopa-responsive) from homozygous GCH1 mutation