rs61754381
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs61754381(A;A) |
| Make rs61754381(A;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 11 |
| Position | 89227816 |
| Gene | LOC107984363, TYR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs61754381 |
| dbSNP (classic) | rs61754381 |
| ClinGen | rs61754381 |
| ebi | rs61754381 |
| HLI | rs61754381 |
| Exac | rs61754381 |
| Gnomad | rs61754381 |
| Varsome | rs61754381 |
| LitVar | rs61754381 |
| Map | rs61754381 |
| PheGenI | rs61754381 |
| Biobank | rs61754381 |
| 1000 genomes | rs61754381 |
| hgdp | rs61754381 |
| ensembl | rs61754381 |
| geneview | rs61754381 |
| scholar | rs61754381 |
| rs61754381 | |
| pharmgkb | rs61754381 |
| gwascentral | rs61754381 |
| openSNP | rs61754381 |
| 23andMe | rs61754381 |
| SNPshot | rs61754381 |
| SNPdbe | rs61754381 |
| MSV3d | rs61754381 |
| GWAS Ctlg | rs61754381 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs61754381(A;A) rs61754381(C;C) |
| Alt | rs61754381(A;A) rs61754381(C;C) |
| Reference | Rs61754381(T;T) |
| Significance | Pathogenic |
| Disease | not provided Oculocutaneous albinism type 1B Tyrosinase-negative oculocutaneous albinism Oculocutaneous albinism |
| Variation | info |
| Gene | TYR |
| CLNDBN | not provided Oculocutaneous albinism type 1B Tyrosinase-negative oculocutaneous albinism Oculocutaneous albinism |
| Reversed | 0 |
| HGVS | NC_000011.9:g.88960984T>A |
| CLNSRC | |
| CLNACC | RCV000085889.2, RCV000177049.2, RCV000177050.3, RCV000287375.1, |
