rs587776581
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;ATAC) | 5 | Treacher Collins syndrome, type 1 (predicted) |
| (ATAC;ATAC) | 0 | common in clinvar |
| Make rs587776581(-;-) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 5 |
| Position | 150368834 |
| Gene | TCOF1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs587776581 |
| dbSNP (classic) | rs587776581 |
| ClinGen | rs587776581 |
| ebi | rs587776581 |
| HLI | rs587776581 |
| Exac | rs587776581 |
| Gnomad | rs587776581 |
| Varsome | rs587776581 |
| LitVar | rs587776581 |
| Map | rs587776581 |
| PheGenI | rs587776581 |
| Biobank | rs587776581 |
| 1000 genomes | rs587776581 |
| hgdp | rs587776581 |
| ensembl | rs587776581 |
| geneview | rs587776581 |
| scholar | rs587776581 |
| rs587776581 | |
| pharmgkb | rs587776581 |
| gwascentral | rs587776581 |
| openSNP | rs587776581 |
| 23andMe | rs587776581 |
| SNPshot | rs587776581 |
| SNPdbe | rs587776581 |
| MSV3d | rs587776581 |
| GWAS Ctlg | rs587776581 |
| Max Magnitude | 5 |
| ClinVar | |
|---|---|
| Risk | rs587776581(-;-) |
| Alt | rs587776581(-;-) |
| Reference | Rs587776581(ATAC;ATAC) |
| Significance | Pathogenic |
| Disease | Treacher Collins syndrome 1 |
| Variation | info |
| Gene | TCOF1 |
| CLNDBN | Treacher Collins syndrome 1 |
| Reversed | 0 |
| HGVS | NC_000005.9:g.149748397_149748400delATAC |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000004168.4, |
