rs368088025
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs368088025(A;A) |
| Make rs368088025(A;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 1 |
| Position | 68446825 |
| Gene | RPE65 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs368088025 |
| dbSNP (classic) | rs368088025 |
| ClinGen | rs368088025 |
| ebi | rs368088025 |
| HLI | rs368088025 |
| Exac | rs368088025 |
| Gnomad | rs368088025 |
| Varsome | rs368088025 |
| LitVar | rs368088025 |
| Map | rs368088025 |
| PheGenI | rs368088025 |
| Biobank | rs368088025 |
| 1000 genomes | rs368088025 |
| hgdp | rs368088025 |
| ensembl | rs368088025 |
| geneview | rs368088025 |
| scholar | rs368088025 |
| rs368088025 | |
| pharmgkb | rs368088025 |
| gwascentral | rs368088025 |
| openSNP | rs368088025 |
| 23andMe | rs368088025 |
| SNPshot | rs368088025 |
| SNPdbe | rs368088025 |
| MSV3d | rs368088025 |
| GWAS Ctlg | rs368088025 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs368088025(A;A) |
| Alt | rs368088025(A;A) |
| Reference | Rs368088025(G;G) |
| Significance | Probable-Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | RPE65 |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000001.10:g.68912508G>A |
| CLNSRC | |
| CLNACC | RCV000416243.1, |
