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.