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rs137852633(C;C)

From SNPedia
(Redirected from I5000643(G;G))
common in clinvar
Is agenotype
ofrs137852633
GeneGCH1
Chromosome14
Position54,845,799
mentionedby
Magnitude0
ReputeGood
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 3 Carrier of a dopa-responsive dystonia mutation
(G;G) 4 dystonia due to autosomal recessive GCH1 mutation