rs144812594
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs144812594(A;A) |
| Make rs144812594(A;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 15 |
| Position | 27986615 |
| Gene | OCA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs144812594 |
| dbSNP (classic) | rs144812594 |
| ClinGen | rs144812594 |
| ebi | rs144812594 |
| HLI | rs144812594 |
| Exac | rs144812594 |
| Gnomad | rs144812594 |
| Varsome | rs144812594 |
| LitVar | rs144812594 |
| Map | rs144812594 |
| PheGenI | rs144812594 |
| Biobank | rs144812594 |
| 1000 genomes | rs144812594 |
| hgdp | rs144812594 |
| ensembl | rs144812594 |
| geneview | rs144812594 |
| scholar | rs144812594 |
| rs144812594 | |
| pharmgkb | rs144812594 |
| gwascentral | rs144812594 |
| openSNP | rs144812594 |
| 23andMe | rs144812594 |
| SNPshot | rs144812594 |
| SNPdbe | rs144812594 |
| MSV3d | rs144812594 |
| GWAS Ctlg | rs144812594 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs144812594(A;A) |
| Alt | rs144812594(A;A) |
| Reference | Rs144812594(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Tyrosinase-positive oculocutaneous albinism not provided |
| Variation | info |
| Gene | OCA2 |
| CLNDBN | Tyrosinase-positive oculocutaneous albinism not provided |
| Reversed | 0 |
| HGVS | NC_000015.9:g.28231761G>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000193262.1, RCV000413048.1, |
