rs61754375
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs61754375(A;A) |
| Make rs61754375(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 89191278 |
| Gene | LOC107984363, TYR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs61754375 |
| dbSNP (classic) | rs61754375 |
| ClinGen | rs61754375 |
| ebi | rs61754375 |
| HLI | rs61754375 |
| Exac | rs61754375 |
| Gnomad | rs61754375 |
| Varsome | rs61754375 |
| LitVar | rs61754375 |
| Map | rs61754375 |
| PheGenI | rs61754375 |
| Biobank | rs61754375 |
| 1000 genomes | rs61754375 |
| hgdp | rs61754375 |
| ensembl | rs61754375 |
| geneview | rs61754375 |
| scholar | rs61754375 |
| rs61754375 | |
| pharmgkb | rs61754375 |
| gwascentral | rs61754375 |
| openSNP | rs61754375 |
| 23andMe | rs61754375 |
| SNPshot | rs61754375 |
| SNPdbe | rs61754375 |
| MSV3d | rs61754375 |
| GWAS Ctlg | rs61754375 |
| GMAF | 0.0004591 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs61754375(A;A) |
| Alt | rs61754375(A;A) |
| Reference | Rs61754375(G;G) |
| Significance | Pathogenic |
| Disease | Tyrosinase-negative oculocutaneous albinism not provided |
| Variation | info |
| Gene | TYR |
| CLNDBN | Tyrosinase-negative oculocutaneous albinism not provided |
| Reversed | 0 |
| HGVS | NC_000011.9:g.88924446G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000004000.3, RCV000085979.1, |
