rs121908007
From SNPedia
| sulfite oxidase deficiency |
| Orientation | plus |
| Stabilized | plus |
| 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 |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 56004039 |
| Gene | SUOX |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121908007 |
| dbSNP (classic) | rs121908007 |
| ClinGen | rs121908007 |
| ebi | rs121908007 |
| HLI | rs121908007 |
| Exac | rs121908007 |
| Gnomad | rs121908007 |
| Varsome | rs121908007 |
| LitVar | rs121908007 |
| Map | rs121908007 |
| PheGenI | rs121908007 |
| Biobank | rs121908007 |
| 1000 genomes | rs121908007 |
| hgdp | rs121908007 |
| ensembl | rs121908007 |
| geneview | rs121908007 |
| scholar | rs121908007 |
| rs121908007 | |
| pharmgkb | rs121908007 |
| gwascentral | rs121908007 |
| openSNP | rs121908007 |
| 23andMe | rs121908007 |
| SNPshot | rs121908007 |
| SNPdbe | rs121908007 |
| MSV3d | rs121908007 |
| GWAS Ctlg | rs121908007 |
| Max Magnitude | 5 |
rs121908007, also known as R160Q, is a SNP in the sulfite oxidase SUOX gene.
A report published in 1998 concluded that a patient suffering from sulfite oxidase deficiency inherited two copies of the rs121908007(A) allele. [PMID 9600976
]
See also: OMIM 606887.0001
| ClinVar | |
|---|---|
| Risk | Rs121908007(A;A) |
| Alt | Rs121908007(A;A) |
| Reference | Rs121908007(G;G) |
| Significance | Pathogenic |
| Disease | Sulfite oxidase deficiency |
| Variation | info |
| Gene | SUOX |
| CLNDBN | Sulfite oxidase deficiency, isolated |
| Reversed | 0 |
| HGVS | NC_000012.11:g.56397823G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000004024.2, |
