rs202126574
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs202126574(C;T) |
| Make rs202126574(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 14 |
| Position | 67726084 |
| Gene | GPHN, RDH12 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs202126574 |
| dbSNP (classic) | rs202126574 |
| ClinGen | rs202126574 |
| ebi | rs202126574 |
| HLI | rs202126574 |
| Exac | rs202126574 |
| Gnomad | rs202126574 |
| Varsome | rs202126574 |
| LitVar | rs202126574 |
| Map | rs202126574 |
| PheGenI | rs202126574 |
| Biobank | rs202126574 |
| 1000 genomes | rs202126574 |
| hgdp | rs202126574 |
| ensembl | rs202126574 |
| geneview | rs202126574 |
| scholar | rs202126574 |
| rs202126574 | |
| pharmgkb | rs202126574 |
| gwascentral | rs202126574 |
| openSNP | rs202126574 |
| 23andMe | rs202126574 |
| SNPshot | rs202126574 |
| SNPdbe | rs202126574 |
| MSV3d | rs202126574 |
| GWAS Ctlg | rs202126574 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs202126574(T;T) |
| Alt | rs202126574(T;T) |
| Reference | Rs202126574(C;C) |
| Significance | Pathogenic |
| Disease | Retinitis pigmentosa 53 Retinitis pigmentosa |
| Variation | info |
| Gene | RDH12 |
| CLNDBN | Retinitis pigmentosa 53 Retinitis pigmentosa |
| Reversed | 0 |
| HGVS | NC_000014.8:g.68192801C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000002142.3, RCV000132691.1, |
