rs121908007(A;A)
From SNPedia
sulfite oxidase deficiency |
Is a | genotype |
of | rs121908007 |
Gene | SUOX |
Chromosome | 12 |
Position | 56,004,039 |
mentioned | by |
Magnitude | 5 |
Repute | Bad |
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.