rs200826424
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs200826424(A;A) |
| Make rs200826424(A;G) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 13 |
| Position | 49549530 |
| Gene | RCBTB1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs200826424 |
| dbSNP (classic) | rs200826424 |
| ClinGen | rs200826424 |
| ebi | rs200826424 |
| HLI | rs200826424 |
| Exac | rs200826424 |
| Gnomad | rs200826424 |
| Varsome | rs200826424 |
| LitVar | rs200826424 |
| Map | rs200826424 |
| PheGenI | rs200826424 |
| Biobank | rs200826424 |
| 1000 genomes | rs200826424 |
| hgdp | rs200826424 |
| ensembl | rs200826424 |
| geneview | rs200826424 |
| scholar | rs200826424 |
| rs200826424 | |
| pharmgkb | rs200826424 |
| gwascentral | rs200826424 |
| openSNP | rs200826424 |
| 23andMe | rs200826424 |
| SNPshot | rs200826424 |
| SNPdbe | rs200826424 |
| MSV3d | rs200826424 |
| GWAS Ctlg | rs200826424 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs200826424(A;A) |
| Alt | rs200826424(A;A) |
| Reference | Rs200826424(G;G) |
| Significance | Pathogenic |
| Disease | Retinitis pigmentosa RETINAL DYSTROPHY WITH EXTRAOCULAR ANOMALIES |
| Variation | info |
| Gene | RCBTB1 |
| CLNDBN | Retinitis pigmentosa RETINAL DYSTROPHY WITH EXTRAOCULAR ANOMALIES |
| Reversed | 0 |
| HGVS | NC_000013.10:g.50123666G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000239605.1, RCV000258084.1, |
