rs137854591
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs137854591(A;G) |
Make rs137854591(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 37792024 |
Gene | CYBB |
is a | snp |
is | mentioned by |
dbSNP | rs137854591 |
dbSNP (classic) | rs137854591 |
ClinGen | rs137854591 |
ebi | rs137854591 |
HLI | rs137854591 |
Exac | rs137854591 |
Gnomad | rs137854591 |
Varsome | rs137854591 |
LitVar | rs137854591 |
Map | rs137854591 |
PheGenI | rs137854591 |
Biobank | rs137854591 |
1000 genomes | rs137854591 |
hgdp | rs137854591 |
ensembl | rs137854591 |
geneview | rs137854591 |
scholar | rs137854591 |
rs137854591 | |
pharmgkb | rs137854591 |
gwascentral | rs137854591 |
openSNP | rs137854591 |
23andMe | rs137854591 |
SNPshot | rs137854591 |
SNPdbe | rs137854591 |
MSV3d | rs137854591 |
GWAS Ctlg | rs137854591 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137854591(G;G) |
Alt | rs137854591(G;G) |
Reference | Rs137854591(A;A) |
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.37651277A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants) |
CLNACC | RCV000011673.5, RCV000059257.1, |
[PMID 1710153] Point mutations in the beta-subunit of cytochrome b558 leading to X-linked chronic granulomatous disease.