rs179363866
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs179363866(C;G) |
Make rs179363866(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 154558649 |
Gene | IKBKG |
is a | snp |
is | mentioned by |
dbSNP | rs179363866 |
dbSNP (classic) | rs179363866 |
ClinGen | rs179363866 |
ebi | rs179363866 |
HLI | rs179363866 |
Exac | rs179363866 |
Gnomad | rs179363866 |
Varsome | rs179363866 |
LitVar | rs179363866 |
Map | rs179363866 |
PheGenI | rs179363866 |
Biobank | rs179363866 |
1000 genomes | rs179363866 |
hgdp | rs179363866 |
ensembl | rs179363866 |
geneview | rs179363866 |
scholar | rs179363866 |
rs179363866 | |
pharmgkb | rs179363866 |
gwascentral | rs179363866 |
openSNP | rs179363866 |
23andMe | rs179363866 |
SNPshot | rs179363866 |
SNPdbe | rs179363866 |
MSV3d | rs179363866 |
GWAS Ctlg | rs179363866 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs179363866(G;G) |
Alt | rs179363866(G;G) |
Reference | Rs179363866(C;C) |
Significance | Pathogenic |
Disease | Invasive pneumococcal disease not provided |
Variation | info |
Gene | IKBKG |
CLNDBN | Invasive pneumococcal disease, recurrent isolated, 2 not provided |
Reversed | 0 |
HGVS | NC_000023.10:g.153786864C>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants) |
CLNACC | RCV000012224.2, RCV000059072.1, |
[PMID 16950813] IRAK4 and NEMO mutations in otherwise healthy children with recurrent invasive pneumococcal disease.