rs446227
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs446227(A;A) |
| Make rs446227(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 8 |
| Position | 54628890 |
| Gene | RP1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs446227 |
| dbSNP (classic) | rs446227 |
| ClinGen | rs446227 |
| ebi | rs446227 |
| HLI | rs446227 |
| Exac | rs446227 |
| Gnomad | rs446227 |
| Varsome | rs446227 |
| LitVar | rs446227 |
| Map | rs446227 |
| PheGenI | rs446227 |
| Biobank | rs446227 |
| 1000 genomes | rs446227 |
| hgdp | rs446227 |
| ensembl | rs446227 |
| geneview | rs446227 |
| scholar | rs446227 |
| rs446227 | |
| pharmgkb | rs446227 |
| gwascentral | rs446227 |
| openSNP | rs446227 |
| 23andMe | rs446227 |
| SNPshot | rs446227 |
| SNPdbe | rs446227 |
| MSV3d | rs446227 |
| GWAS Ctlg | rs446227 |
| GMAF | 0.275 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 20664799
] Differential pattern of RP1 mutations in retinitis pigmentosa.
| ClinVar | |
|---|---|
| Risk | rs446227(A;A) |
| Alt | rs446227(A;A) |
| Reference | Rs446227(G;G) |
| Significance | Probable-non-pathogenic |
| Disease | not specified not provided Retinitis Pigmentosa |
| Variation | info |
| Gene | RP1 |
| CLNDBN | not specified not provided Retinitis Pigmentosa, Dominant |
| Reversed | 0 |
| HGVS | NC_000008.10:g.55541450G>A |
| CLNSRC | HGMD UniProtKB (protein) |
| CLNACC | RCV000081371.5, RCV000132660.1, RCV000286823.1, |
