rs137854594
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs137854594(C;T) |
Make rs137854594(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 37792023 |
Gene | CYBB |
is a | snp |
is | mentioned by |
dbSNP | rs137854594 |
dbSNP (classic) | rs137854594 |
ClinGen | rs137854594 |
ebi | rs137854594 |
HLI | rs137854594 |
Exac | rs137854594 |
Gnomad | rs137854594 |
Varsome | rs137854594 |
LitVar | rs137854594 |
Map | rs137854594 |
PheGenI | rs137854594 |
Biobank | rs137854594 |
1000 genomes | rs137854594 |
hgdp | rs137854594 |
ensembl | rs137854594 |
geneview | rs137854594 |
scholar | rs137854594 |
rs137854594 | |
pharmgkb | rs137854594 |
gwascentral | rs137854594 |
openSNP | rs137854594 |
23andMe | rs137854594 |
SNPshot | rs137854594 |
SNPdbe | rs137854594 |
MSV3d | rs137854594 |
GWAS Ctlg | rs137854594 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137854594(T;T) |
Alt | rs137854594(T;T) |
Reference | Rs137854594(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.37651276C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants) |
CLNACC | RCV000011679.7, RCV000059256.1, |
[PMID 9856476] A novel mutation at a probable heme-binding ligand in neutrophil cytochrome b558 in atypical X-linked chronic granulomatous disease.
[PMID 10914676] Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and p22-phox deficiency.