rs121912304
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs121912304(C;T) |
| Make rs121912304(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 154765505 |
| Gene | DKC1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121912304 |
| dbSNP (classic) | rs121912304 |
| ClinGen | rs121912304 |
| ebi | rs121912304 |
| HLI | rs121912304 |
| Exac | rs121912304 |
| Gnomad | rs121912304 |
| Varsome | rs121912304 |
| LitVar | rs121912304 |
| Map | rs121912304 |
| PheGenI | rs121912304 |
| Biobank | rs121912304 |
| 1000 genomes | rs121912304 |
| hgdp | rs121912304 |
| ensembl | rs121912304 |
| geneview | rs121912304 |
| scholar | rs121912304 |
| rs121912304 | |
| pharmgkb | rs121912304 |
| gwascentral | rs121912304 |
| openSNP | rs121912304 |
| 23andMe | rs121912304 |
| SNPshot | rs121912304 |
| SNPdbe | rs121912304 |
| MSV3d | rs121912304 |
| GWAS Ctlg | rs121912304 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs121912304(T;T) |
| Alt | rs121912304(T;T) |
| Reference | Rs121912304(C;C) |
| Significance | Pathogenic |
| Disease | Dyskeratosis congenita X-linked Hoyeraal Hreidarsson syndrome not provided |
| Variation | info |
| Gene | DKC1 |
| CLNDBN | Dyskeratosis congenita X-linked Hoyeraal Hreidarsson syndrome not provided |
| Reversed | 0 |
| HGVS | NC_000023.10:g.153993780C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants) |
| CLNACC | RCV000012349.2, RCV000119101.1, RCV000254868.1, |
[PMID 10583221] Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1.
