rs121912289
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs121912289(C;T) |
| Make rs121912289(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 154774672 |
| Gene | DKC1, SNORA56 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121912289 |
| dbSNP (classic) | rs121912289 |
| ClinGen | rs121912289 |
| ebi | rs121912289 |
| HLI | rs121912289 |
| Exac | rs121912289 |
| Gnomad | rs121912289 |
| Varsome | rs121912289 |
| LitVar | rs121912289 |
| Map | rs121912289 |
| PheGenI | rs121912289 |
| Biobank | rs121912289 |
| 1000 genomes | rs121912289 |
| hgdp | rs121912289 |
| ensembl | rs121912289 |
| geneview | rs121912289 |
| scholar | rs121912289 |
| rs121912289 | |
| pharmgkb | rs121912289 |
| gwascentral | rs121912289 |
| openSNP | rs121912289 |
| 23andMe | rs121912289 |
| SNPshot | rs121912289 |
| SNPdbe | rs121912289 |
| MSV3d | rs121912289 |
| GWAS Ctlg | rs121912289 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs121912289(T;T) |
| Alt | rs121912289(T;T) |
| Reference | Rs121912289(C;C) |
| Significance | Pathogenic |
| Disease | Dyskeratosis congenita X-linked |
| Variation | info |
| Gene | DKC1 SNORA56 |
| CLNDBN | Dyskeratosis congenita X-linked |
| Reversed | 0 |
| HGVS | NC_000023.10:g.154002947C>T |
| CLNSRC | UniProtKB (protein) UniProtKB (variants) |
| CLNACC | RCV000032193.2, |
[PMID 15304085] Identification of a novel mutation and a de novo mutation in DKC1 in two Chinese pedigrees with Dyskeratosis congenita.
