rs15251
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs15251(C;T) |
| Make rs15251(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 150396669 |
| Gene | TCOF1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs15251 |
| dbSNP (classic) | rs15251 |
| ClinGen | rs15251 |
| ebi | rs15251 |
| HLI | rs15251 |
| Exac | rs15251 |
| Gnomad | rs15251 |
| Varsome | rs15251 |
| LitVar | rs15251 |
| Map | rs15251 |
| PheGenI | rs15251 |
| Biobank | rs15251 |
| 1000 genomes | rs15251 |
| hgdp | rs15251 |
| ensembl | rs15251 |
| geneview | rs15251 |
| scholar | rs15251 |
| rs15251 | |
| pharmgkb | rs15251 |
| gwascentral | rs15251 |
| openSNP | rs15251 |
| 23andMe | rs15251 |
| SNPshot | rs15251 |
| SNPdbe | rs15251 |
| MSV3d | rs15251 |
| GWAS Ctlg | rs15251 |
| GMAF | 0.2144 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 18688869
] rs2255796 and rs15251 suggested excess maternal transmission and may influence risk of cleft palate
| ClinVar | |
|---|---|
| Risk | rs15251(T;T) |
| Alt | rs15251(T;T) |
| Reference | Rs15251(C;C) |
| Significance | Other |
| Disease | not specified Treacher Collins Syndrome |
| Variation | info |
| Gene | TCOF1 |
| CLNDBN | not specified Treacher Collins Syndrome, Dominant |
| Reversed | 0 |
| HGVS | NC_000005.9:g.149776232C>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000118615.3, RCV000293133.1, |
