rs137853326
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs137853326(G;T) |
| Make rs137853326(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 154564451 |
| Gene | IKBKG |
| is a | snp |
| is | mentioned by |
| dbSNP | rs137853326 |
| dbSNP (classic) | rs137853326 |
| ClinGen | rs137853326 |
| ebi | rs137853326 |
| HLI | rs137853326 |
| Exac | rs137853326 |
| Gnomad | rs137853326 |
| Varsome | rs137853326 |
| LitVar | rs137853326 |
| Map | rs137853326 |
| PheGenI | rs137853326 |
| Biobank | rs137853326 |
| 1000 genomes | rs137853326 |
| hgdp | rs137853326 |
| ensembl | rs137853326 |
| geneview | rs137853326 |
| scholar | rs137853326 |
| rs137853326 | |
| pharmgkb | rs137853326 |
| gwascentral | rs137853326 |
| openSNP | rs137853326 |
| 23andMe | rs137853326 |
| SNPshot | rs137853326 |
| SNPdbe | rs137853326 |
| MSV3d | rs137853326 |
| GWAS Ctlg | rs137853326 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs137853326(A;A) rs137853326(T;T) |
| Alt | rs137853326(A;A) rs137853326(T;T) |
| Reference | Rs137853326(G;G) |
| Significance | Pathogenic |
| Disease | not provided Hypohidrotic ectodermal dysplasia with immune deficiency |
| Variation | info |
| Gene | IKBKG |
| CLNDBN | not provided Hypohidrotic ectodermal dysplasia with immune deficiency |
| Reversed | 0 |
| HGVS | NC_000023.10:g.153792666G>A; NC_000023.10:g.153792666G>T |
| CLNSRC | UniProtKB (protein) UniProtKB (variants) OMIM Allelic Variant |
| CLNACC | RCV000059067.1, RCV000012211.20, RCV000059068.1, |
[PMID 11242109] X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling.
[PMID 15100680] The presentation and natural history of immunodeficiency caused by nuclear factor kappaB essential modulator mutation.
