rs111576740
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs111576740(C;C) |
| Make rs111576740(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 1266537 |
| Gene | TERT |
| is a | snp |
| is | mentioned by |
| dbSNP | rs111576740 |
| dbSNP (classic) | rs111576740 |
| ClinGen | rs111576740 |
| ebi | rs111576740 |
| HLI | rs111576740 |
| Exac | rs111576740 |
| Gnomad | rs111576740 |
| Varsome | rs111576740 |
| LitVar | rs111576740 |
| Map | rs111576740 |
| PheGenI | rs111576740 |
| Biobank | rs111576740 |
| 1000 genomes | rs111576740 |
| hgdp | rs111576740 |
| ensembl | rs111576740 |
| geneview | rs111576740 |
| scholar | rs111576740 |
| rs111576740 | |
| pharmgkb | rs111576740 |
| gwascentral | rs111576740 |
| openSNP | rs111576740 |
| 23andMe | rs111576740 |
| SNPshot | rs111576740 |
| SNPdbe | rs111576740 |
| MSV3d | rs111576740 |
| GWAS Ctlg | rs111576740 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs111576740(C;C) rs111576740(G;G) |
| Alt | rs111576740(C;C) rs111576740(G;G) |
| Reference | Rs111576740(T;T) |
| Significance | Pathogenic |
| Disease | Pulmonary fibrosis and/or bone marrow failure Idiopathic fibrosing alveolitis |
| Variation | info |
| Gene | TERT |
| CLNDBN | Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 Idiopathic fibrosing alveolitis, chronic form |
| Reversed | 0 |
| HGVS | NC_000005.9:g.1266652T>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000030625.25, RCV000032386.1, |
