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rs121908007(A;A)

From SNPedia
sulfite oxidase deficiency
Is agenotype
ofrs121908007
GeneSUOX
Chromosome12
Position56,004,039
mentionedby
Magnitude5
ReputeBad
Geno Mag Summary
(A;A) 5 sulfite oxidase deficiency
(A;G) 1.5 carrier of a sulfite oxidase deficiency allele
(G;G) 0 common in clinvar

A 1998 publication concluded that this mutation (when two copies are inherited) leads to sulfite oxidase deficiency. See the main rs121908007 for more details.