rs118031911
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs118031911(C;T) |
| Make rs118031911(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 8 |
| Position | 54629679 |
| Gene | RP1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs118031911 |
| dbSNP (classic) | rs118031911 |
| ClinGen | rs118031911 |
| ebi | rs118031911 |
| HLI | rs118031911 |
| Exac | rs118031911 |
| Gnomad | rs118031911 |
| Varsome | rs118031911 |
| LitVar | rs118031911 |
| Map | rs118031911 |
| PheGenI | rs118031911 |
| Biobank | rs118031911 |
| 1000 genomes | rs118031911 |
| hgdp | rs118031911 |
| ensembl | rs118031911 |
| geneview | rs118031911 |
| scholar | rs118031911 |
| rs118031911 | |
| pharmgkb | rs118031911 |
| gwascentral | rs118031911 |
| openSNP | rs118031911 |
| 23andMe | rs118031911 |
| SNPshot | rs118031911 |
| SNPdbe | rs118031911 |
| MSV3d | rs118031911 |
| GWAS Ctlg | rs118031911 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs118031911(T;T) |
| Alt | rs118031911(T;T) |
| Reference | Rs118031911(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Retinitis pigmentosa |
| Variation | info |
| Gene | RP1 |
| CLNDBN | Retinitis pigmentosa |
| Reversed | 0 |
| HGVS | NC_000008.10:g.55542239C>T |
| CLNSRC | ClinVar |
| CLNACC | RCV000132661.1, |
