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, |
