rs397518011
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs397518011(A;A) |
| Make rs397518011(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 216207280 |
| Gene | LOC105372918, USH2A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs397518011 |
| dbSNP (classic) | rs397518011 |
| ClinGen | rs397518011 |
| ebi | rs397518011 |
| HLI | rs397518011 |
| Exac | rs397518011 |
| Gnomad | rs397518011 |
| Varsome | rs397518011 |
| LitVar | rs397518011 |
| Map | rs397518011 |
| PheGenI | rs397518011 |
| Biobank | rs397518011 |
| 1000 genomes | rs397518011 |
| hgdp | rs397518011 |
| ensembl | rs397518011 |
| geneview | rs397518011 |
| scholar | rs397518011 |
| rs397518011 | |
| pharmgkb | rs397518011 |
| gwascentral | rs397518011 |
| openSNP | rs397518011 |
| 23andMe | rs397518011 |
| SNPshot | rs397518011 |
| SNPdbe | rs397518011 |
| MSV3d | rs397518011 |
| GWAS Ctlg | rs397518011 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs397518011(A;A) |
| Alt | rs397518011(A;A) |
| Reference | Rs397518011(C;C) |
| Significance | Pathogenic |
| Disease | Usher syndrome |
| Variation | info |
| Gene | USH2A |
| CLNDBN | Usher syndrome, type 2A |
| Reversed | 1 |
| HGVS | NC_000001.10:g.216380622G>T |
| CLNSRC | ClinVar |
| CLNACC | RCV000041825.2, |
