rs61753180
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs61753180(A;A) |
| Make rs61753180(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 89178093 |
| Gene | LOC107984363, TYR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs61753180 |
| dbSNP (classic) | rs61753180 |
| ClinGen | rs61753180 |
| ebi | rs61753180 |
| HLI | rs61753180 |
| Exac | rs61753180 |
| Gnomad | rs61753180 |
| Varsome | rs61753180 |
| LitVar | rs61753180 |
| Map | rs61753180 |
| PheGenI | rs61753180 |
| Biobank | rs61753180 |
| 1000 genomes | rs61753180 |
| hgdp | rs61753180 |
| ensembl | rs61753180 |
| geneview | rs61753180 |
| scholar | rs61753180 |
| rs61753180 | |
| pharmgkb | rs61753180 |
| gwascentral | rs61753180 |
| openSNP | rs61753180 |
| 23andMe | rs61753180 |
| SNPshot | rs61753180 |
| SNPdbe | rs61753180 |
| MSV3d | rs61753180 |
| GWAS Ctlg | rs61753180 |
| GMAF | 0.0004591 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs61753180(A;A) |
| Alt | rs61753180(A;A) |
| Reference | Rs61753180(G;G) |
| Significance | Pathogenic |
| Disease | Tyrosinase-negative oculocutaneous albinism Oculocutaneous albinism type 1B not provided |
| Variation | info |
| Gene | TYR |
| CLNDBN | Tyrosinase-negative oculocutaneous albinism Oculocutaneous albinism type 1B not provided |
| Reversed | 0 |
| HGVS | NC_000011.9:g.88911261G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000003997.2, RCV000003998.2, RCV000085925.2, |
