rs137854593
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs137854593(A;G) |
| Make rs137854593(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 37809604 |
| Gene | CYBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs137854593 |
| dbSNP (classic) | rs137854593 |
| ClinGen | rs137854593 |
| ebi | rs137854593 |
| HLI | rs137854593 |
| Exac | rs137854593 |
| Gnomad | rs137854593 |
| Varsome | rs137854593 |
| LitVar | rs137854593 |
| Map | rs137854593 |
| PheGenI | rs137854593 |
| Biobank | rs137854593 |
| 1000 genomes | rs137854593 |
| hgdp | rs137854593 |
| ensembl | rs137854593 |
| geneview | rs137854593 |
| scholar | rs137854593 |
| rs137854593 | |
| pharmgkb | rs137854593 |
| gwascentral | rs137854593 |
| openSNP | rs137854593 |
| 23andMe | rs137854593 |
| SNPshot | rs137854593 |
| SNPdbe | rs137854593 |
| MSV3d | rs137854593 |
| GWAS Ctlg | rs137854593 |
| Merged from | Rs28935181 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs137854593(G;G) |
| Alt | rs137854593(G;G) |
| Reference | Rs137854593(A;A) |
| Significance | Pathogenic |
| Disease | Chronic granulomatous disease not provided |
| Variation | info |
| Gene | CYBB |
| CLNDBN | Chronic granulomatous disease, X-linked not provided |
| Reversed | 0 |
| HGVS | NC_000023.10:g.37668857A>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants) |
| CLNACC | RCV000011678.4, RCV000059242.1, |
[PMID 8182143
] A point mutation in gp91-phox of cytochrome b558 of the human NADPH oxidase leading to defective translocation of the cytosolic proteins p47-phox and p67-phox.
