rs146221660
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs146221660(A;A) |
| Make rs146221660(A;G) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 20 |
| Position | 63693248 |
| Gene | RTEL1, RTEL1-TNFRSF6B |
| is a | snp |
| is | mentioned by |
| dbSNP | rs146221660 |
| dbSNP (classic) | rs146221660 |
| ClinGen | rs146221660 |
| ebi | rs146221660 |
| HLI | rs146221660 |
| Exac | rs146221660 |
| Gnomad | rs146221660 |
| Varsome | rs146221660 |
| LitVar | rs146221660 |
| Map | rs146221660 |
| PheGenI | rs146221660 |
| Biobank | rs146221660 |
| 1000 genomes | rs146221660 |
| hgdp | rs146221660 |
| ensembl | rs146221660 |
| geneview | rs146221660 |
| scholar | rs146221660 |
| rs146221660 | |
| pharmgkb | rs146221660 |
| gwascentral | rs146221660 |
| openSNP | rs146221660 |
| 23andMe | rs146221660 |
| SNPshot | rs146221660 |
| SNPdbe | rs146221660 |
| MSV3d | rs146221660 |
| GWAS Ctlg | rs146221660 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs146221660(A;A) rs146221660(T;T) |
| Alt | rs146221660(A;A) rs146221660(T;T) |
| Reference | Rs146221660(G;G) |
| Significance | Pathogenic |
| Disease | Pulmonary fibrosis and/or bone marrow failure Idiopathic fibrosing alveolitis |
| Variation | info |
| Gene | RTEL1-TNFRSF6B RTEL1 |
| CLNDBN | Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 Idiopathic fibrosing alveolitis, chronic form |
| Reversed | 0 |
| HGVS | NC_000020.10:g.62324601G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000201216.3, RCV000201575.1, |
