rs137853327
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs137853327(A;T) |
Make rs137853327(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 154564418 |
Gene | IKBKG |
is a | snp |
is | mentioned by |
dbSNP | rs137853327 |
dbSNP (classic) | rs137853327 |
ClinGen | rs137853327 |
ebi | rs137853327 |
HLI | rs137853327 |
Exac | rs137853327 |
Gnomad | rs137853327 |
Varsome | rs137853327 |
LitVar | rs137853327 |
Map | rs137853327 |
PheGenI | rs137853327 |
Biobank | rs137853327 |
1000 genomes | rs137853327 |
hgdp | rs137853327 |
ensembl | rs137853327 |
geneview | rs137853327 |
scholar | rs137853327 |
rs137853327 | |
pharmgkb | rs137853327 |
gwascentral | rs137853327 |
openSNP | rs137853327 |
23andMe | rs137853327 |
SNPshot | rs137853327 |
SNPdbe | rs137853327 |
MSV3d | rs137853327 |
GWAS Ctlg | rs137853327 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137853327(T;T) |
Alt | rs137853327(T;T) |
Reference | Rs137853327(A;A) |
Significance | Pathogenic |
Disease | Hyper-IgM immunodeficiency Hypohidrotic ectodermal dysplasia with immune deficiency |
Variation | info |
Gene | IKBKG |
CLNDBN | Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia Hypohidrotic ectodermal dysplasia with immune deficiency |
Reversed | 0 |
HGVS | NC_000023.10:g.153792633A>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000012212.2, RCV000024285.11, |