rs886042344
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Chromosome | 5 |
| Position | 33951558 |
| Gene | SLC45A2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs886042344 |
| dbSNP (classic) | rs886042344 |
| ClinGen | rs886042344 |
| ebi | rs886042344 |
| HLI | rs886042344 |
| Exac | rs886042344 |
| Gnomad | rs886042344 |
| Varsome | rs886042344 |
| LitVar | rs886042344 |
| Map | rs886042344 |
| PheGenI | rs886042344 |
| Biobank | rs886042344 |
| 1000 genomes | rs886042344 |
| hgdp | rs886042344 |
| ensembl | rs886042344 |
| geneview | rs886042344 |
| scholar | rs886042344 |
| rs886042344 | |
| pharmgkb | rs886042344 |
| gwascentral | rs886042344 |
| openSNP | rs886042344 |
| 23andMe | rs886042344 |
| SNPshot | rs886042344 |
| SNPdbe | rs886042344 |
| MSV3d | rs886042344 |
| GWAS Ctlg | rs886042344 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs886042344(C;C) |
| Alt | rs886042344(C;C) |
| Reference | Rs886042344(A;A) |
| Significance | Pathogenic |
| Disease | Oculocutaneous albinism type 4 |
| Variation | info |
| Gene | SLC45A2 |
| CLNDBN | Oculocutaneous albinism type 4 |
| Reversed | 0 |
| HGVS | NC_000005.9:g.33951663A>C |
| CLNSRC | |
| CLNACC | RCV000292085.1, |
