rs201159197
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs201159197(A;A) |
| Make rs201159197(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 1266519 |
| Gene | TERT |
| is a | snp |
| is | mentioned by |
| dbSNP | rs201159197 |
| dbSNP (classic) | rs201159197 |
| ClinGen | rs201159197 |
| ebi | rs201159197 |
| HLI | rs201159197 |
| Exac | rs201159197 |
| Gnomad | rs201159197 |
| Varsome | rs201159197 |
| LitVar | rs201159197 |
| Map | rs201159197 |
| PheGenI | rs201159197 |
| Biobank | rs201159197 |
| 1000 genomes | rs201159197 |
| hgdp | rs201159197 |
| ensembl | rs201159197 |
| geneview | rs201159197 |
| scholar | rs201159197 |
| rs201159197 | |
| pharmgkb | rs201159197 |
| gwascentral | rs201159197 |
| openSNP | rs201159197 |
| 23andMe | rs201159197 |
| SNPshot | rs201159197 |
| SNPdbe | rs201159197 |
| MSV3d | rs201159197 |
| GWAS Ctlg | rs201159197 |
| GMAF | 0.0004591 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs201159197(A;A) rs201159197(T;T) |
| Alt | rs201159197(A;A) rs201159197(T;T) |
| Reference | Rs201159197(C;C) |
| Significance | Pathogenic |
| Disease | Pulmonary fibrosis and/or bone marrow failure |
| Variation | info |
| Gene | TERT |
| CLNDBN | Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 |
| Reversed | 0 |
| HGVS | NC_000005.9:g.1266634C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000030627.24, |
