rs759411189
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs759411189(-;-) |
| Make rs759411189(-;G) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 5 |
| Position | 33947258 |
| Gene | SLC45A2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs759411189 |
| dbSNP (classic) | rs759411189 |
| ClinGen | rs759411189 |
| ebi | rs759411189 |
| HLI | rs759411189 |
| Exac | rs759411189 |
| Gnomad | rs759411189 |
| Varsome | rs759411189 |
| LitVar | rs759411189 |
| Map | rs759411189 |
| PheGenI | rs759411189 |
| Biobank | rs759411189 |
| 1000 genomes | rs759411189 |
| hgdp | rs759411189 |
| ensembl | rs759411189 |
| geneview | rs759411189 |
| scholar | rs759411189 |
| rs759411189 | |
| pharmgkb | rs759411189 |
| gwascentral | rs759411189 |
| openSNP | rs759411189 |
| 23andMe | rs759411189 |
| SNPshot | rs759411189 |
| SNPdbe | rs759411189 |
| MSV3d | rs759411189 |
| GWAS Ctlg | rs759411189 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs759411189(-;-) |
| Alt | rs759411189(-;-) |
| Reference | Rs759411189(G;G) |
| Significance | Pathogenic |
| Disease | Oculocutaneous albinism type 4 |
| Variation | info |
| Gene | SLC45A2 |
| CLNDBN | Oculocutaneous albinism type 4 |
| Reversed | 0 |
| HGVS | NC_000005.9:g.33947363delG |
| CLNSRC | |
| CLNACC | RCV000234810.1, |
