rs28933100
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | |
| (G;G) | 0 | common in clinvar |
| Make rs28933100(G;T) |
| Make rs28933100(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 14 |
| Position | 35404550 |
| Gene | NFKBIA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28933100 |
| dbSNP (classic) | rs28933100 |
| ClinGen | rs28933100 |
| ebi | rs28933100 |
| HLI | rs28933100 |
| Exac | rs28933100 |
| Gnomad | rs28933100 |
| Varsome | rs28933100 |
| LitVar | rs28933100 |
| Map | rs28933100 |
| PheGenI | rs28933100 |
| Biobank | rs28933100 |
| 1000 genomes | rs28933100 |
| hgdp | rs28933100 |
| ensembl | rs28933100 |
| geneview | rs28933100 |
| scholar | rs28933100 |
| rs28933100 | |
| pharmgkb | rs28933100 |
| gwascentral | rs28933100 |
| openSNP | rs28933100 |
| 23andMe | rs28933100 |
| SNPshot | rs28933100 |
| SNPdbe | rs28933100 |
| MSV3d | rs28933100 |
| GWAS Ctlg | rs28933100 |
| Max Magnitude | 0 |
| OMIM | 164008 |
| Desc | ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT |
| Variant | 0001 |
| Related | also |
| ClinVar | |
|---|---|
| Risk | rs28933100(T;T) |
| Alt | rs28933100(T;T) |
| Reference | Rs28933100(G;G) |
| Significance | 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.35873756C>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000015040.25, |
