rs28941769
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;G) | 5 | Treacher Collins syndrome, type 1 (predicted) |
| Make rs28941769(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 150361196 |
| Gene | TCOF1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28941769 |
| dbSNP (classic) | rs28941769 |
| ClinGen | rs28941769 |
| ebi | rs28941769 |
| HLI | rs28941769 |
| Exac | rs28941769 |
| Gnomad | rs28941769 |
| Varsome | rs28941769 |
| LitVar | rs28941769 |
| Map | rs28941769 |
| PheGenI | rs28941769 |
| Biobank | rs28941769 |
| 1000 genomes | rs28941769 |
| hgdp | rs28941769 |
| ensembl | rs28941769 |
| geneview | rs28941769 |
| scholar | rs28941769 |
| rs28941769 | |
| pharmgkb | rs28941769 |
| gwascentral | rs28941769 |
| openSNP | rs28941769 |
| 23andMe | rs28941769 |
| SNPshot | rs28941769 |
| SNPdbe | rs28941769 |
| MSV3d | rs28941769 |
| GWAS Ctlg | rs28941769 |
| Max Magnitude | 5 |
| ClinVar | |
|---|---|
| Risk | rs28941769(G;G) |
| Alt | rs28941769(G;G) |
| Reference | Rs28941769(A;A) |
| Significance | Pathogenic |
| Disease | Treacher Collins syndrome 1 |
| Variation | info |
| Gene | TCOF1 |
| CLNDBN | Treacher Collins syndrome 1 |
| Reversed | 0 |
| HGVS | NC_000005.9:g.149740759A>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000004170.4, |
