rs414352
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs414352(C;C) |
| Make rs414352(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 8 |
| Position | 54628953 |
| Gene | RP1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs414352 |
| dbSNP (classic) | rs414352 |
| ClinGen | rs414352 |
| ebi | rs414352 |
| HLI | rs414352 |
| Exac | rs414352 |
| Gnomad | rs414352 |
| Varsome | rs414352 |
| LitVar | rs414352 |
| Map | rs414352 |
| PheGenI | rs414352 |
| Biobank | rs414352 |
| 1000 genomes | rs414352 |
| hgdp | rs414352 |
| ensembl | rs414352 |
| geneview | rs414352 |
| scholar | rs414352 |
| rs414352 | |
| pharmgkb | rs414352 |
| gwascentral | rs414352 |
| openSNP | rs414352 |
| 23andMe | rs414352 |
| SNPshot | rs414352 |
| SNPdbe | rs414352 |
| MSV3d | rs414352 |
| GWAS Ctlg | rs414352 |
| GMAF | 0.3039 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 19339744
] Genetic analysis of Indian families with autosomal recessive retinitis pigmentosa by homozygosity screening.
[PMID 20664799] Differential pattern of RP1 mutations in retinitis pigmentosa.
| ClinVar | |
|---|---|
| Risk | rs414352(C;C) |
| Alt | rs414352(C;C) |
| Reference | Rs414352(T;T) |
| Significance | Probable-non-pathogenic |
| Disease | not specified Retinitis Pigmentosa |
| Variation | info |
| Gene | RP1 |
| CLNDBN | not specified Retinitis Pigmentosa, Dominant |
| Reversed | 0 |
| HGVS | NC_000008.10:g.55541513T>C |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000081373.4, RCV000325419.1, |
