rs780296175
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs780296175(A;A) |
| Make rs780296175(A;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 15 |
| Position | 27871191 |
| Gene | OCA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs780296175 |
| dbSNP (classic) | rs780296175 |
| ClinGen | rs780296175 |
| ebi | rs780296175 |
| HLI | rs780296175 |
| Exac | rs780296175 |
| Gnomad | rs780296175 |
| Varsome | rs780296175 |
| LitVar | rs780296175 |
| Map | rs780296175 |
| PheGenI | rs780296175 |
| Biobank | rs780296175 |
| 1000 genomes | rs780296175 |
| hgdp | rs780296175 |
| ensembl | rs780296175 |
| geneview | rs780296175 |
| scholar | rs780296175 |
| rs780296175 | |
| pharmgkb | rs780296175 |
| gwascentral | rs780296175 |
| openSNP | rs780296175 |
| 23andMe | rs780296175 |
| SNPshot | rs780296175 |
| SNPdbe | rs780296175 |
| MSV3d | rs780296175 |
| GWAS Ctlg | rs780296175 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs780296175(A;A) |
| Alt | rs780296175(A;A) |
| Reference | Rs780296175(G;G) |
| Significance | Probable-Pathogenic |
| Disease | not specified Tyrosinase-positive oculocutaneous albinism |
| Variation | info |
| Gene | OCA2 |
| CLNDBN | not specified Tyrosinase-positive oculocutaneous albinism |
| Reversed | 0 |
| HGVS | NC_000015.9:g.28116337G>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000176150.1, RCV000192656.1, |
