rs375323253
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs375323253(A;A) |
| Make rs375323253(A;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 11 |
| Position | 613094 |
| Gene | IRF7 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs375323253 |
| dbSNP (classic) | rs375323253 |
| ClinGen | rs375323253 |
| ebi | rs375323253 |
| HLI | rs375323253 |
| Exac | rs375323253 |
| Gnomad | rs375323253 |
| Varsome | rs375323253 |
| LitVar | rs375323253 |
| Map | rs375323253 |
| PheGenI | rs375323253 |
| Biobank | rs375323253 |
| 1000 genomes | rs375323253 |
| hgdp | rs375323253 |
| ensembl | rs375323253 |
| geneview | rs375323253 |
| scholar | rs375323253 |
| rs375323253 | |
| pharmgkb | rs375323253 |
| gwascentral | rs375323253 |
| openSNP | rs375323253 |
| 23andMe | rs375323253 |
| SNPshot | rs375323253 |
| SNPdbe | rs375323253 |
| MSV3d | rs375323253 |
| GWAS Ctlg | rs375323253 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs375323253(A;A) |
| Alt | rs375323253(A;A) |
| Reference | Rs375323253(G;G) |
| Significance | Pathogenic |
| Disease | Immunodeficiency 39 |
| Variation | info |
| Gene | IRF7 |
| CLNDBN | Immunodeficiency 39 |
| Reversed | 0 |
| HGVS | NC_000011.9:g.613094G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000170461.3, |
