rs776174514
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs776174514(C;C) |
| Make rs776174514(C;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 9 |
| Position | 12704589 |
| Gene | LURAP1L-AS1, TYRP1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs776174514 |
| dbSNP (classic) | rs776174514 |
| ClinGen | rs776174514 |
| ebi | rs776174514 |
| HLI | rs776174514 |
| Exac | rs776174514 |
| Gnomad | rs776174514 |
| Varsome | rs776174514 |
| LitVar | rs776174514 |
| Map | rs776174514 |
| PheGenI | rs776174514 |
| Biobank | rs776174514 |
| 1000 genomes | rs776174514 |
| hgdp | rs776174514 |
| ensembl | rs776174514 |
| geneview | rs776174514 |
| scholar | rs776174514 |
| rs776174514 | |
| pharmgkb | rs776174514 |
| gwascentral | rs776174514 |
| openSNP | rs776174514 |
| 23andMe | rs776174514 |
| SNPshot | rs776174514 |
| SNPdbe | rs776174514 |
| MSV3d | rs776174514 |
| GWAS Ctlg | rs776174514 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs776174514(C;C) |
| Alt | rs776174514(C;C) |
| Reference | Rs776174514(T;T) |
| Significance | Probable-Pathogenic |
| Disease | Oculocutaneous albinism type 3 |
| Variation | info |
| Gene | TYRP1 LURAP1L-AS1 |
| CLNDBN | Oculocutaneous albinism type 3 |
| Reversed | 0 |
| HGVS | NC_000009.11:g.12704589T>C |
| CLNSRC | |
| CLNACC | RCV000192929.1, |
