rs200296680
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs200296680(C;T) |
| Make rs200296680(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 8 |
| Position | 42316223 |
| Gene | IKBKB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs200296680 |
| dbSNP (classic) | rs200296680 |
| ClinGen | rs200296680 |
| ebi | rs200296680 |
| HLI | rs200296680 |
| Exac | rs200296680 |
| Gnomad | rs200296680 |
| Varsome | rs200296680 |
| LitVar | rs200296680 |
| Map | rs200296680 |
| PheGenI | rs200296680 |
| Biobank | rs200296680 |
| 1000 genomes | rs200296680 |
| hgdp | rs200296680 |
| ensembl | rs200296680 |
| geneview | rs200296680 |
| scholar | rs200296680 |
| rs200296680 | |
| pharmgkb | rs200296680 |
| gwascentral | rs200296680 |
| openSNP | rs200296680 |
| 23andMe | rs200296680 |
| SNPshot | rs200296680 |
| SNPdbe | rs200296680 |
| MSV3d | rs200296680 |
| GWAS Ctlg | rs200296680 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs200296680(T;T) |
| Alt | rs200296680(T;T) |
| Reference | Rs200296680(C;C) |
| Significance | Pathogenic |
| Disease | Immunodeficiency 15 |
| Variation | info |
| Gene | IKBKB |
| CLNDBN | Immunodeficiency 15 |
| Reversed | 0 |
| HGVS | NC_000008.10:g.42173741C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000144958.4, |
