rs368124046
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs368124046(C;T) |
| Make rs368124046(T;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 15 |
| Position | 27983340 |
| Gene | OCA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs368124046 |
| dbSNP (classic) | rs368124046 |
| ClinGen | rs368124046 |
| ebi | rs368124046 |
| HLI | rs368124046 |
| Exac | rs368124046 |
| Gnomad | rs368124046 |
| Varsome | rs368124046 |
| LitVar | rs368124046 |
| Map | rs368124046 |
| PheGenI | rs368124046 |
| Biobank | rs368124046 |
| 1000 genomes | rs368124046 |
| hgdp | rs368124046 |
| ensembl | rs368124046 |
| geneview | rs368124046 |
| scholar | rs368124046 |
| rs368124046 | |
| pharmgkb | rs368124046 |
| gwascentral | rs368124046 |
| openSNP | rs368124046 |
| 23andMe | rs368124046 |
| SNPshot | rs368124046 |
| SNPdbe | rs368124046 |
| MSV3d | rs368124046 |
| GWAS Ctlg | rs368124046 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs368124046(T;T) |
| Alt | rs368124046(T;T) |
| Reference | Rs368124046(C;C) |
| Significance | Pathogenic |
| Disease | Tyrosinase-positive oculocutaneous albinism not provided |
| Variation | info |
| Gene | OCA2 |
| CLNDBN | Tyrosinase-positive oculocutaneous albinism not provided |
| Reversed | 0 |
| HGVS | NC_000015.9:g.28228486C>T |
| CLNSRC | |
| CLNACC | RCV000193557.1, RCV000302408.1, |
