rs137854589
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs137854589(C;C) |
Make rs137854589(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 37799011 |
Gene | CYBB |
is a | snp |
is | mentioned by |
dbSNP | rs137854589 |
dbSNP (classic) | rs137854589 |
ClinGen | rs137854589 |
ebi | rs137854589 |
HLI | rs137854589 |
Exac | rs137854589 |
Gnomad | rs137854589 |
Varsome | rs137854589 |
LitVar | rs137854589 |
Map | rs137854589 |
PheGenI | rs137854589 |
Biobank | rs137854589 |
1000 genomes | rs137854589 |
hgdp | rs137854589 |
ensembl | rs137854589 |
geneview | rs137854589 |
scholar | rs137854589 |
rs137854589 | |
pharmgkb | rs137854589 |
gwascentral | rs137854589 |
openSNP | rs137854589 |
23andMe | rs137854589 |
SNPshot | rs137854589 |
SNPdbe | rs137854589 |
MSV3d | rs137854589 |
GWAS Ctlg | rs137854589 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137854589(A;A) rs137854589(C;C) |
Alt | rs137854589(A;A) rs137854589(C;C) |
Reference | Rs137854589(G;G) |
Significance | Pathogenic |
Disease | not provided Granulomatous disease |
Variation | info |
Gene | CYBB |
CLNDBN | not provided Granulomatous disease, chronic, X-linked, variant |
Reversed | 0 |
HGVS | NC_000023.10:g.37658264G>A; NC_000023.10:g.37658264G>C |
CLNSRC | UniProtKB (protein) UniProtKB (variants) OMIM Allelic Variant |
CLNACC | RCV000059277.1, RCV000011671.4, RCV000059278.1, |
[PMID 1710153] Point mutations in the beta-subunit of cytochrome b558 leading to X-linked chronic granulomatous disease.
[PMID 9888386] Molecular analysis of chronic granulomatous disease caused by defects in gp91-phox.