rs749544685
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs749544685(A;G) |
| Make rs749544685(G;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 5 |
| Position | 33944787 |
| Gene | SLC45A2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs749544685 |
| dbSNP (classic) | rs749544685 |
| ClinGen | rs749544685 |
| ebi | rs749544685 |
| HLI | rs749544685 |
| Exac | rs749544685 |
| Gnomad | rs749544685 |
| Varsome | rs749544685 |
| LitVar | rs749544685 |
| Map | rs749544685 |
| PheGenI | rs749544685 |
| Biobank | rs749544685 |
| 1000 genomes | rs749544685 |
| hgdp | rs749544685 |
| ensembl | rs749544685 |
| geneview | rs749544685 |
| scholar | rs749544685 |
| rs749544685 | |
| pharmgkb | rs749544685 |
| gwascentral | rs749544685 |
| openSNP | rs749544685 |
| 23andMe | rs749544685 |
| SNPshot | rs749544685 |
| SNPdbe | rs749544685 |
| MSV3d | rs749544685 |
| GWAS Ctlg | rs749544685 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs749544685(G;G) |
| Alt | rs749544685(G;G) |
| Reference | Rs749544685(A;A) |
| Significance | Probable-Pathogenic |
| Disease | Oculocutaneous albinism type 4 |
| Variation | info |
| Gene | SLC45A2 |
| CLNDBN | Oculocutaneous albinism type 4 |
| Reversed | 0 |
| HGVS | NC_000005.9:g.33944892A>G |
| CLNSRC | |
| CLNACC | RCV000199265.1, |
