rs199422294
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs199422294(A;A) |
| Make rs199422294(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 1280216 |
| Gene | TERT |
| is a | snp |
| is | mentioned by |
| dbSNP | rs199422294 |
| dbSNP (classic) | rs199422294 |
| ClinGen | rs199422294 |
| ebi | rs199422294 |
| HLI | rs199422294 |
| Exac | rs199422294 |
| Gnomad | rs199422294 |
| Varsome | rs199422294 |
| LitVar | rs199422294 |
| Map | rs199422294 |
| PheGenI | rs199422294 |
| Biobank | rs199422294 |
| 1000 genomes | rs199422294 |
| hgdp | rs199422294 |
| ensembl | rs199422294 |
| geneview | rs199422294 |
| scholar | rs199422294 |
| rs199422294 | |
| pharmgkb | rs199422294 |
| gwascentral | rs199422294 |
| openSNP | rs199422294 |
| 23andMe | rs199422294 |
| SNPshot | rs199422294 |
| SNPdbe | rs199422294 |
| MSV3d | rs199422294 |
| GWAS Ctlg | rs199422294 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs199422294(A;A) |
| Alt | rs199422294(A;A) |
| Reference | Rs199422294(G;G) |
| Significance | Pathogenic |
| Disease | Dyskeratosis congenita Idiopathic fibrosing alveolitis |
| Variation | info |
| Gene | TERT |
| CLNDBN | Dyskeratosis congenita, autosomal dominant, 2 Idiopathic fibrosing alveolitis, chronic form |
| Reversed | 1 |
| HGVS | NC_000005.9:g.1280331C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000022783.19, RCV000032370.1, |
