rs62636275
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs62636275(A;A) |
| Make rs62636275(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 197435170 |
| Gene | CRB1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs62636275 |
| dbSNP (classic) | rs62636275 |
| ClinGen | rs62636275 |
| ebi | rs62636275 |
| HLI | rs62636275 |
| Exac | rs62636275 |
| Gnomad | rs62636275 |
| Varsome | rs62636275 |
| LitVar | rs62636275 |
| Map | rs62636275 |
| PheGenI | rs62636275 |
| Biobank | rs62636275 |
| 1000 genomes | rs62636275 |
| hgdp | rs62636275 |
| ensembl | rs62636275 |
| geneview | rs62636275 |
| scholar | rs62636275 |
| rs62636275 | |
| pharmgkb | rs62636275 |
| gwascentral | rs62636275 |
| openSNP | rs62636275 |
| 23andMe | rs62636275 |
| SNPshot | rs62636275 |
| SNPdbe | rs62636275 |
| MSV3d | rs62636275 |
| GWAS Ctlg | rs62636275 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs62636275(A;A) |
| Alt | rs62636275(A;A) |
| Reference | Rs62636275(G;G) |
| Significance | Pathogenic |
| Disease | Leber congenital amaurosis 8 Retinitis pigmentosa 12 not provided |
| Variation | info |
| Gene | CRB1 |
| CLNDBN | Leber congenital amaurosis 8 Retinitis pigmentosa 12 not provided |
| Reversed | 0 |
| HGVS | NC_000001.10:g.197404300G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000006093.5, RCV000006094.4, RCV000086341.2, |
