rs372989281
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs372989281(C;T) |
| Make rs372989281(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 11 |
| Position | 61958194 |
| Gene | BEST1, LOC107984334 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs372989281 |
| dbSNP (classic) | rs372989281 |
| ClinGen | rs372989281 |
| ebi | rs372989281 |
| HLI | rs372989281 |
| Exac | rs372989281 |
| Gnomad | rs372989281 |
| Varsome | rs372989281 |
| LitVar | rs372989281 |
| Map | rs372989281 |
| PheGenI | rs372989281 |
| Biobank | rs372989281 |
| 1000 genomes | rs372989281 |
| hgdp | rs372989281 |
| ensembl | rs372989281 |
| geneview | rs372989281 |
| scholar | rs372989281 |
| rs372989281 | |
| pharmgkb | rs372989281 |
| gwascentral | rs372989281 |
| openSNP | rs372989281 |
| 23andMe | rs372989281 |
| SNPshot | rs372989281 |
| SNPdbe | rs372989281 |
| MSV3d | rs372989281 |
| GWAS Ctlg | rs372989281 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs372989281(T;T) |
| Alt | rs372989281(T;T) |
| Reference | Rs372989281(C;C) |
| Significance | Pathogenic |
| Disease | Retinitis pigmentosa |
| Variation | info |
| Gene | BEST1 |
| CLNDBN | Retinitis pigmentosa |
| Reversed | 0 |
| HGVS | NC_000011.9:g.61725666C>T |
| CLNSRC | ClinVar |
| CLNACC | RCV000132651.1, |
