rs137854588
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs137854588(C;T) |
Make rs137854588(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 37783565 |
Gene | CYBB |
is a | snp |
is | mentioned by |
dbSNP | rs137854588 |
dbSNP (classic) | rs137854588 |
ClinGen | rs137854588 |
ebi | rs137854588 |
HLI | rs137854588 |
Exac | rs137854588 |
Gnomad | rs137854588 |
Varsome | rs137854588 |
LitVar | rs137854588 |
Map | rs137854588 |
PheGenI | rs137854588 |
Biobank | rs137854588 |
1000 genomes | rs137854588 |
hgdp | rs137854588 |
ensembl | rs137854588 |
geneview | rs137854588 |
scholar | rs137854588 |
rs137854588 | |
pharmgkb | rs137854588 |
gwascentral | rs137854588 |
openSNP | rs137854588 |
23andMe | rs137854588 |
SNPshot | rs137854588 |
SNPdbe | rs137854588 |
MSV3d | rs137854588 |
GWAS Ctlg | rs137854588 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137854588(T;T) |
Alt | rs137854588(T;T) |
Reference | Rs137854588(C;C) |
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.37642818C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000011670.6, RCV000254770.1, |