rs527236133
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs527236133(C;T) |
| Make rs527236133(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 5 |
| Position | 90692659 |
| Gene | ADGRV1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs527236133 |
| dbSNP (classic) | rs527236133 |
| ClinGen | rs527236133 |
| ebi | rs527236133 |
| HLI | rs527236133 |
| Exac | rs527236133 |
| Gnomad | rs527236133 |
| Varsome | rs527236133 |
| LitVar | rs527236133 |
| Map | rs527236133 |
| PheGenI | rs527236133 |
| Biobank | rs527236133 |
| 1000 genomes | rs527236133 |
| hgdp | rs527236133 |
| ensembl | rs527236133 |
| geneview | rs527236133 |
| scholar | rs527236133 |
| rs527236133 | |
| pharmgkb | rs527236133 |
| gwascentral | rs527236133 |
| openSNP | rs527236133 |
| 23andMe | rs527236133 |
| SNPshot | rs527236133 |
| SNPdbe | rs527236133 |
| MSV3d | rs527236133 |
| GWAS Ctlg | rs527236133 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs527236133(T;T) |
| Alt | rs527236133(T;T) |
| Reference | Rs527236133(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Usher syndrome |
| Variation | info |
| Gene | GPR98 ADGRV1 |
| CLNDBN | Usher syndrome, type 2C |
| Reversed | 0 |
| HGVS | NC_000005.9:g.89988476C>T |
| CLNSRC | ClinVar |
| CLNACC | RCV000132687.1, |
