rs137854595
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs137854595(A;A) |
| Make rs137854595(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 37803886 |
| Gene | CYBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs137854595 |
| dbSNP (classic) | rs137854595 |
| ClinGen | rs137854595 |
| ebi | rs137854595 |
| HLI | rs137854595 |
| Exac | rs137854595 |
| Gnomad | rs137854595 |
| Varsome | rs137854595 |
| LitVar | rs137854595 |
| Map | rs137854595 |
| PheGenI | rs137854595 |
| Biobank | rs137854595 |
| 1000 genomes | rs137854595 |
| hgdp | rs137854595 |
| ensembl | rs137854595 |
| geneview | rs137854595 |
| scholar | rs137854595 |
| rs137854595 | |
| pharmgkb | rs137854595 |
| gwascentral | rs137854595 |
| openSNP | rs137854595 |
| 23andMe | rs137854595 |
| SNPshot | rs137854595 |
| SNPdbe | rs137854595 |
| MSV3d | rs137854595 |
| GWAS Ctlg | rs137854595 |
| Merged from | Rs28935182 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs137854595(A;A) rs137854595(T;T) |
| Alt | rs137854595(A;A) rs137854595(T;T) |
| Reference | Rs137854595(C;C) |
| Significance | Pathogenic |
| Disease | Granulomatous disease not provided |
| Variation | info |
| Gene | CYBB |
| CLNDBN | Granulomatous disease, chronic, X-linked, variant not provided |
| Reversed | 0 |
| HGVS | NC_000023.10:g.37663139C>A; NC_000023.10:g.37663139C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants) |
| CLNACC | RCV000011683.5, RCV000059279.1, RCV000254834.1, |
[PMID 11997083] Molecular and functional characterization of a new X-linked chronic granulomatous disease variant (X91+) case with a double missense mutation in the cytosolic gp91phox C-terminal tail.
