rs116887602
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs116887602(A;A) |
| Make rs116887602(A;G) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 5 |
| Position | 33963745 |
| Gene | SLC45A2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs116887602 |
| dbSNP (classic) | rs116887602 |
| ClinGen | rs116887602 |
| ebi | rs116887602 |
| HLI | rs116887602 |
| Exac | rs116887602 |
| Gnomad | rs116887602 |
| Varsome | rs116887602 |
| LitVar | rs116887602 |
| Map | rs116887602 |
| PheGenI | rs116887602 |
| Biobank | rs116887602 |
| 1000 genomes | rs116887602 |
| hgdp | rs116887602 |
| ensembl | rs116887602 |
| geneview | rs116887602 |
| scholar | rs116887602 |
| rs116887602 | |
| pharmgkb | rs116887602 |
| gwascentral | rs116887602 |
| openSNP | rs116887602 |
| 23andMe | rs116887602 |
| SNPshot | rs116887602 |
| SNPdbe | rs116887602 |
| MSV3d | rs116887602 |
| GWAS Ctlg | rs116887602 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs116887602(A;A) rs116887602(C;C) rs116887602(T;T) |
| Alt | rs116887602(A;A) rs116887602(C;C) rs116887602(T;T) |
| Reference | Rs116887602(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.33963850G>C |
| CLNSRC | |
| CLNACC | RCV000349343.1, |
