rs119470017
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 5 | Treacher Collins syndrome, type 1 (predicted) |
| Make rs119470017(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 150388004 |
| Gene | TCOF1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs119470017 |
| dbSNP (classic) | rs119470017 |
| ClinGen | rs119470017 |
| ebi | rs119470017 |
| HLI | rs119470017 |
| Exac | rs119470017 |
| Gnomad | rs119470017 |
| Varsome | rs119470017 |
| LitVar | rs119470017 |
| Map | rs119470017 |
| PheGenI | rs119470017 |
| Biobank | rs119470017 |
| 1000 genomes | rs119470017 |
| hgdp | rs119470017 |
| ensembl | rs119470017 |
| geneview | rs119470017 |
| scholar | rs119470017 |
| rs119470017 | |
| pharmgkb | rs119470017 |
| gwascentral | rs119470017 |
| openSNP | rs119470017 |
| 23andMe | rs119470017 |
| SNPshot | rs119470017 |
| SNPdbe | rs119470017 |
| MSV3d | rs119470017 |
| GWAS Ctlg | rs119470017 |
| Max Magnitude | 5 |
| ClinVar | |
|---|---|
| Risk | rs119470017(T;T) |
| Alt | rs119470017(T;T) |
| Reference | Rs119470017(C;C) |
| Significance | Pathogenic |
| Disease | Treacher Collins syndrome 1 |
| Variation | info |
| Gene | TCOF1 |
| CLNDBN | Treacher Collins syndrome 1 |
| Reversed | 0 |
| HGVS | NC_000005.9:g.149767567C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000004172.3, |
