rs151206295
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs151206295(C;T) |
| Make rs151206295(T;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 11 |
| Position | 89227850 |
| Gene | LOC107984363, TYR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs151206295 |
| dbSNP (classic) | rs151206295 |
| ClinGen | rs151206295 |
| ebi | rs151206295 |
| HLI | rs151206295 |
| Exac | rs151206295 |
| Gnomad | rs151206295 |
| Varsome | rs151206295 |
| LitVar | rs151206295 |
| Map | rs151206295 |
| PheGenI | rs151206295 |
| Biobank | rs151206295 |
| 1000 genomes | rs151206295 |
| hgdp | rs151206295 |
| ensembl | rs151206295 |
| geneview | rs151206295 |
| scholar | rs151206295 |
| rs151206295 | |
| pharmgkb | rs151206295 |
| gwascentral | rs151206295 |
| openSNP | rs151206295 |
| 23andMe | rs151206295 |
| SNPshot | rs151206295 |
| SNPdbe | rs151206295 |
| MSV3d | rs151206295 |
| GWAS Ctlg | rs151206295 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs151206295(G;G) rs151206295(T;T) |
| Alt | rs151206295(G;G) rs151206295(T;T) |
| Reference | Rs151206295(C;C) |
| Significance | Pathogenic |
| Disease | Tyrosinase-negative oculocutaneous albinism |
| Variation | info |
| Gene | TYR |
| CLNDBN | Tyrosinase-negative oculocutaneous albinism |
| Reversed | 0 |
| HGVS | NC_000011.9:g.88961018C>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000195157.1, |
