rs281865424
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs281865424(A;A) |
| Make rs281865424(A;G) |
| Reference | GRCh37.p10 37.5/138 |
| Chromosome | 9 |
| Position | 12702424 |
| Gene | LURAP1L-AS1, TYRP1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs281865424 |
| dbSNP (classic) | rs281865424 |
| ClinGen | rs281865424 |
| ebi | rs281865424 |
| HLI | rs281865424 |
| Exac | rs281865424 |
| Gnomad | rs281865424 |
| Varsome | rs281865424 |
| LitVar | rs281865424 |
| Map | rs281865424 |
| PheGenI | rs281865424 |
| Biobank | rs281865424 |
| 1000 genomes | rs281865424 |
| hgdp | rs281865424 |
| ensembl | rs281865424 |
| geneview | rs281865424 |
| scholar | rs281865424 |
| rs281865424 | |
| pharmgkb | rs281865424 |
| gwascentral | rs281865424 |
| openSNP | rs281865424 |
| 23andMe | rs281865424 |
| SNPshot | rs281865424 |
| SNPdbe | rs281865424 |
| MSV3d | rs281865424 |
| GWAS Ctlg | rs281865424 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs281865424(A;A) rs281865424(T;T) |
| Alt | rs281865424(A;A) rs281865424(T;T) |
| Reference | Rs281865424(G;G) |
| Significance | Pathogenic |
| Disease | Oculocutaneous albinism type 3 |
| Variation | info |
| Gene | TYRP1 LURAP1L-AS1 |
| CLNDBN | Oculocutaneous albinism type 3 |
| Reversed | 0 |
| HGVS | NC_000009.11:g.12702424G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000019162.28, |
