rs62642584
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs62642584(A;A) |
| Make rs62642584(A;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 1 |
| Position | 68444825 |
| Gene | RPE65 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs62642584 |
| dbSNP (classic) | rs62642584 |
| ClinGen | rs62642584 |
| ebi | rs62642584 |
| HLI | rs62642584 |
| Exac | rs62642584 |
| Gnomad | rs62642584 |
| Varsome | rs62642584 |
| LitVar | rs62642584 |
| Map | rs62642584 |
| PheGenI | rs62642584 |
| Biobank | rs62642584 |
| 1000 genomes | rs62642584 |
| hgdp | rs62642584 |
| ensembl | rs62642584 |
| geneview | rs62642584 |
| scholar | rs62642584 |
| rs62642584 | |
| pharmgkb | rs62642584 |
| gwascentral | rs62642584 |
| openSNP | rs62642584 |
| 23andMe | rs62642584 |
| SNPshot | rs62642584 |
| SNPdbe | rs62642584 |
| MSV3d | rs62642584 |
| GWAS Ctlg | rs62642584 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs62642584(A;A) rs62642584(T;T) |
| Alt | rs62642584(A;A) rs62642584(T;T) |
| Reference | Rs62642584(G;G) |
| Significance | Probable-Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | RPE65 |
| CLNDBN | not provided |
| Reversed | 1 |
| HGVS | NC_000001.10:g.68910508C>A; NC_000001.10:g.68910508C>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000085192.1, RCV000085191.1, |
