rs267606676
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs267606676(A;A) |
| Make rs267606676(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 61957432 |
| Gene | BEST1, LOC107984334 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs267606676 |
| dbSNP (classic) | rs267606676 |
| ClinGen | rs267606676 |
| ebi | rs267606676 |
| HLI | rs267606676 |
| Exac | rs267606676 |
| Gnomad | rs267606676 |
| Varsome | rs267606676 |
| LitVar | rs267606676 |
| Map | rs267606676 |
| PheGenI | rs267606676 |
| Biobank | rs267606676 |
| 1000 genomes | rs267606676 |
| hgdp | rs267606676 |
| ensembl | rs267606676 |
| geneview | rs267606676 |
| scholar | rs267606676 |
| rs267606676 | |
| pharmgkb | rs267606676 |
| gwascentral | rs267606676 |
| openSNP | rs267606676 |
| 23andMe | rs267606676 |
| SNPshot | rs267606676 |
| SNPdbe | rs267606676 |
| MSV3d | rs267606676 |
| GWAS Ctlg | rs267606676 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs267606676(A;A) |
| Alt | rs267606676(A;A) |
| Reference | Rs267606676(G;G) |
| Significance | Pathogenic |
| Disease | Retinitis pigmentosa 50 Retinitis pigmentosa not provided |
| Variation | info |
| Gene | BEST1 |
| CLNDBN | Retinitis pigmentosa 50 Retinitis pigmentosa, concentric not provided |
| Reversed | 0 |
| HGVS | NC_000011.9:g.61724904G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000002871.4, RCV000002872.4, RCV000417725.1, |
