rs62637004
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs62637004(G;G) |
| Make rs62637004(G;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 68431160 |
| Gene | RPE65 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs62637004 |
| dbSNP (classic) | rs62637004 |
| ClinGen | rs62637004 |
| ebi | rs62637004 |
| HLI | rs62637004 |
| Exac | rs62637004 |
| Gnomad | rs62637004 |
| Varsome | rs62637004 |
| LitVar | rs62637004 |
| Map | rs62637004 |
| PheGenI | rs62637004 |
| Biobank | rs62637004 |
| 1000 genomes | rs62637004 |
| hgdp | rs62637004 |
| ensembl | rs62637004 |
| geneview | rs62637004 |
| scholar | rs62637004 |
| rs62637004 | |
| pharmgkb | rs62637004 |
| gwascentral | rs62637004 |
| openSNP | rs62637004 |
| 23andMe | rs62637004 |
| SNPshot | rs62637004 |
| SNPdbe | rs62637004 |
| MSV3d | rs62637004 |
| GWAS Ctlg | rs62637004 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs62637004(G;G) |
| Alt | rs62637004(G;G) |
| Reference | Rs62637004(T;T) |
| Significance | Pathogenic |
| Disease | Retinitis pigmentosa 20 not provided |
| Variation | info |
| Gene | RPE65 |
| CLNDBN | Retinitis pigmentosa 20 not provided |
| Reversed | 1 |
| HGVS | NC_000001.10:g.68896843A>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000013995.24, RCV000085169.1, |
