rs763819379
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs763819379(C;C) |
| Make rs763819379(C;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 15 |
| Position | 27983421 |
| Gene | OCA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs763819379 |
| dbSNP (classic) | rs763819379 |
| ClinGen | rs763819379 |
| ebi | rs763819379 |
| HLI | rs763819379 |
| Exac | rs763819379 |
| Gnomad | rs763819379 |
| Varsome | rs763819379 |
| LitVar | rs763819379 |
| Map | rs763819379 |
| PheGenI | rs763819379 |
| Biobank | rs763819379 |
| 1000 genomes | rs763819379 |
| hgdp | rs763819379 |
| ensembl | rs763819379 |
| geneview | rs763819379 |
| scholar | rs763819379 |
| rs763819379 | |
| pharmgkb | rs763819379 |
| gwascentral | rs763819379 |
| openSNP | rs763819379 |
| 23andMe | rs763819379 |
| SNPshot | rs763819379 |
| SNPdbe | rs763819379 |
| MSV3d | rs763819379 |
| GWAS Ctlg | rs763819379 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs763819379(C;C) |
| Alt | rs763819379(C;C) |
| Reference | Rs763819379(T;T) |
| Significance | Pathogenic |
| Disease | Tyrosinase-positive oculocutaneous albinism |
| Variation | info |
| Gene | OCA2 |
| CLNDBN | Tyrosinase-positive oculocutaneous albinism |
| Reversed | 0 |
| HGVS | NC_000015.9:g.28228567T>C |
| CLNSRC | |
| CLNACC | RCV000192364.1, |
