rs398123049
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs398123049(A;A) |
| Make rs398123049(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 20 |
| Position | 63690178 |
| Gene | RTEL1, RTEL1-TNFRSF6B |
| is a | snp |
| is | mentioned by |
| dbSNP | rs398123049 |
| dbSNP (classic) | rs398123049 |
| ClinGen | rs398123049 |
| ebi | rs398123049 |
| HLI | rs398123049 |
| Exac | rs398123049 |
| Gnomad | rs398123049 |
| Varsome | rs398123049 |
| LitVar | rs398123049 |
| Map | rs398123049 |
| PheGenI | rs398123049 |
| Biobank | rs398123049 |
| 1000 genomes | rs398123049 |
| hgdp | rs398123049 |
| ensembl | rs398123049 |
| geneview | rs398123049 |
| scholar | rs398123049 |
| rs398123049 | |
| pharmgkb | rs398123049 |
| gwascentral | rs398123049 |
| openSNP | rs398123049 |
| 23andMe | rs398123049 |
| SNPshot | rs398123049 |
| SNPdbe | rs398123049 |
| MSV3d | rs398123049 |
| GWAS Ctlg | rs398123049 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs398123049(A;A) |
| Alt | rs398123049(A;A) |
| Reference | Rs398123049(G;G) |
| Significance | Pathogenic |
| Disease | Dyskeratosis congenita |
| Variation | info |
| Gene | RTEL1-TNFRSF6B RTEL1 |
| CLNDBN | Dyskeratosis congenita, autosomal recessive, 5 |
| Reversed | 0 |
| HGVS | NC_000020.10:g.62321531G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000055636.5, |
