rs696
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs696(A;A) |
Make rs696(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 35401887 |
Gene | NFKBIA |
is a | snp |
is | mentioned by |
dbSNP | rs696 |
dbSNP (classic) | rs696 |
ClinGen | rs696 |
ebi | rs696 |
HLI | rs696 |
Exac | rs696 |
Gnomad | rs696 |
Varsome | rs696 |
LitVar | rs696 |
Map | rs696 |
PheGenI | rs696 |
Biobank | rs696 |
1000 genomes | rs696 |
hgdp | rs696 |
ensembl | rs696 |
geneview | rs696 |
scholar | rs696 |
rs696 | |
pharmgkb | rs696 |
gwascentral | rs696 |
openSNP | rs696 |
23andMe | rs696 |
SNPshot | rs696 |
SNPdbe | rs696 |
MSV3d | rs696 |
GWAS Ctlg | rs696 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
[PMID 24971461] Polymorphisms in the Inflammatory Pathway Genes TLR2, TLR4, TLR9, LY96, NFKBIA, NFKB1, TNFA, TNFRSF1A, IL6R, IL10, IL23R, PTPN22, and PPARG Are Associated with Susceptibility of Inflammatory Bowel Disease in a Danish Cohort
[PMID 25223483] Effect of functional nuclear factor kappaB genetic polymorphisms on hepatitis B virus persistence and their interactions with viral mutations on the risk of hepatocellular carcinoma
[PMID 26075620] Genetic Variation in NFKB1 and NFKBIA and Susceptibility to Coronary Artery Disease in a Chinese Uygur Population
[PMID 26488500] Common Polymorphisms in the NFKBIA Gene and Cancer Susceptibility: A Meta-Analysis
[PMID 27488439] Co-stimulatory CD28 and transcription factor NFKB1 gene variants affect idiopathic recurrent miscarriages.
ClinVar | |
---|---|
Risk | rs696(A;A) |
Alt | rs696(A;A) |
Reference | Rs696(G;G) |
Significance | Non-pathogenic |
Disease | Ectodermal dysplasia |
Variation | info |
Gene | NFKBIA |
CLNDBN | Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant |
Reversed | 1 |
HGVS | NC_000014.8:g.35871093C>T |
CLNSRC | |
CLNACC | RCV000260426.1, |