rs202085145
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common/normal |
| (G;T) | 3.9 | Carrier of sulfite oxidase deficiency mutation; possible effects? |
| (T;T) | 8 | Sulfite oxidase deficiency (predicted) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 12 |
| Position | 56002720 |
| Gene | SUOX |
| is a | snp |
| is | mentioned by |
| dbSNP | rs202085145 |
| dbSNP (classic) | rs202085145 |
| ClinGen | rs202085145 |
| ebi | rs202085145 |
| HLI | rs202085145 |
| Exac | rs202085145 |
| Gnomad | rs202085145 |
| Varsome | rs202085145 |
| LitVar | rs202085145 |
| Map | rs202085145 |
| PheGenI | rs202085145 |
| Biobank | rs202085145 |
| 1000 genomes | rs202085145 |
| hgdp | rs202085145 |
| ensembl | rs202085145 |
| geneview | rs202085145 |
| scholar | rs202085145 |
| rs202085145 | |
| pharmgkb | rs202085145 |
| gwascentral | rs202085145 |
| openSNP | rs202085145 |
| 23andMe | rs202085145 |
| SNPshot | rs202085145 |
| SNPdbe | rs202085145 |
| MSV3d | rs202085145 |
| GWAS Ctlg | rs202085145 |
| Max Magnitude | 8 |
aka c.228G>T, p.Arg76Ser, R76S
ClinVar indicated "uncertain significance" for sulfite oxidase deficiency, also known as Sulfocysteinuria, listed in OMIM as a recessively inherited condition; in 10.1126/science.aal4043, this variant appears to have some effect even if inherited in only one copy (see paper for discussion).
