rs377269054
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs377269054(A;A) |
| Make rs377269054(A;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 8 |
| Position | 10622967 |
| Gene | RP1L1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs377269054 |
| dbSNP (classic) | rs377269054 |
| ClinGen | rs377269054 |
| ebi | rs377269054 |
| HLI | rs377269054 |
| Exac | rs377269054 |
| Gnomad | rs377269054 |
| Varsome | rs377269054 |
| LitVar | rs377269054 |
| Map | rs377269054 |
| PheGenI | rs377269054 |
| Biobank | rs377269054 |
| 1000 genomes | rs377269054 |
| hgdp | rs377269054 |
| ensembl | rs377269054 |
| geneview | rs377269054 |
| scholar | rs377269054 |
| rs377269054 | |
| pharmgkb | rs377269054 |
| gwascentral | rs377269054 |
| openSNP | rs377269054 |
| 23andMe | rs377269054 |
| SNPshot | rs377269054 |
| SNPdbe | rs377269054 |
| MSV3d | rs377269054 |
| GWAS Ctlg | rs377269054 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs377269054(A;A) |
| Alt | rs377269054(A;A) |
| Reference | Rs377269054(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Retinitis pigmentosa |
| Variation | info |
| Gene | RP1L1 |
| CLNDBN | Retinitis pigmentosa |
| Reversed | 0 |
| HGVS | NC_000008.10:g.10480477G>A |
| CLNSRC | ClinVar |
| CLNACC | RCV000132696.1, |
