rs142931246
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs142931246(C;C) |
| Make rs142931246(C;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 15 |
| Position | 28014795 |
| Gene | OCA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs142931246 |
| dbSNP (classic) | rs142931246 |
| ClinGen | rs142931246 |
| ebi | rs142931246 |
| HLI | rs142931246 |
| Exac | rs142931246 |
| Gnomad | rs142931246 |
| Varsome | rs142931246 |
| LitVar | rs142931246 |
| Map | rs142931246 |
| PheGenI | rs142931246 |
| Biobank | rs142931246 |
| 1000 genomes | rs142931246 |
| hgdp | rs142931246 |
| ensembl | rs142931246 |
| geneview | rs142931246 |
| scholar | rs142931246 |
| rs142931246 | |
| pharmgkb | rs142931246 |
| gwascentral | rs142931246 |
| openSNP | rs142931246 |
| 23andMe | rs142931246 |
| SNPshot | rs142931246 |
| SNPdbe | rs142931246 |
| MSV3d | rs142931246 |
| GWAS Ctlg | rs142931246 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs142931246(C;C) |
| Alt | rs142931246(C;C) |
| Reference | Rs142931246(T;T) |
| Significance | Probable-Pathogenic |
| Disease | Albinism |
| Variation | info |
| Gene | OCA2 |
| CLNDBN | Albinism |
| Reversed | 0 |
| HGVS | NC_000015.9:g.28259941T>C |
| CLNSRC | |
| CLNACC | RCV000415383.1, |
