rs796051865
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (GATATGGCCAGGGGTCACT;GATATGGCCAGGGGTCACT) | 0 | common in clinvar |
| (I;I) | 0 | common genotype |
| (TGGCCAGGGGTCACTGATA;TGGCCAGGGGTCACTGATA) | 0 | common in clinvar |
| Make rs796051865(-;-) |
| Make rs796051865(-;TGGCCAGGGGTCACTGATA) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 5 |
| Position | 91153328 |
| Gene | ADGRV1, LOC107986432 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs796051865 |
| dbSNP (classic) | rs796051865 |
| ClinGen | rs796051865 |
| ebi | rs796051865 |
| HLI | rs796051865 |
| Exac | rs796051865 |
| Gnomad | rs796051865 |
| Varsome | rs796051865 |
| LitVar | rs796051865 |
| Map | rs796051865 |
| PheGenI | rs796051865 |
| Biobank | rs796051865 |
| 1000 genomes | rs796051865 |
| hgdp | rs796051865 |
| ensembl | rs796051865 |
| geneview | rs796051865 |
| scholar | rs796051865 |
| rs796051865 | |
| pharmgkb | rs796051865 |
| gwascentral | rs796051865 |
| openSNP | rs796051865 |
| 23andMe | rs796051865 |
| SNPshot | rs796051865 |
| SNPdbe | rs796051865 |
| MSV3d | rs796051865 |
| GWAS Ctlg | rs796051865 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs796051865(-;-) Rs796051865(GATATGGCCAGGGGTCACT;GATATGGCCAGGGGTCACT) |
| Alt | rs796051865(-;-) Rs796051865(GATATGGCCAGGGGTCACT;GATATGGCCAGGGGTCACT) |
| Reference | Rs796051865(TGGCCAGGGGTCACTGATA;TGGCCAGGGGTCACTGATA) |
| Significance | Pathogenic |
| Disease | Usher syndrome |
| Variation | info |
| Gene | ADGRV1 GPR98 |
| CLNDBN | Usher syndrome, type 2C |
| Reversed | 0 |
| HGVS | NC_000005.9:g.90449145_90449163del19 |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000007203.5, |
