rs79281338
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Make rs79281338(C;T) |
| Make rs79281338(T;T) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 20 |
| Position | 44622905 |
| Gene | ADA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs79281338 |
| dbSNP (classic) | rs79281338 |
| ClinGen | rs79281338 |
| ebi | rs79281338 |
| HLI | rs79281338 |
| Exac | rs79281338 |
| Gnomad | rs79281338 |
| Varsome | rs79281338 |
| LitVar | rs79281338 |
| Map | rs79281338 |
| PheGenI | rs79281338 |
| Biobank | rs79281338 |
| 1000 genomes | rs79281338 |
| hgdp | rs79281338 |
| ensembl | rs79281338 |
| geneview | rs79281338 |
| scholar | rs79281338 |
| rs79281338 | |
| pharmgkb | rs79281338 |
| gwascentral | rs79281338 |
| openSNP | rs79281338 |
| 23andMe | rs79281338 |
| SNPshot | rs79281338 |
| SNPdbe | rs79281338 |
| MSV3d | rs79281338 |
| GWAS Ctlg | rs79281338 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs79281338(T;T) |
| Alt | rs79281338(T;T) |
| Reference | Rs79281338(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Severe combined immunodeficiency due to ADA deficiency |
| Variation | info |
| Gene | ADA |
| CLNDBN | Severe combined immunodeficiency due to ADA deficiency |
| Reversed | 0 |
| HGVS | NC_000020.10:g.43251546C>T |
| CLNSRC | |
| CLNACC | RCV000215113.1, |
