rs151045328
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs151045328(C;T) |
| Make rs151045328(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 11 |
| Position | 17531431 |
| Gene | USH1C |
| is a | snp |
| is | mentioned by |
| dbSNP | rs151045328 |
| dbSNP (classic) | rs151045328 |
| ClinGen | rs151045328 |
| ebi | rs151045328 |
| HLI | rs151045328 |
| Exac | rs151045328 |
| Gnomad | rs151045328 |
| Varsome | rs151045328 |
| LitVar | rs151045328 |
| Map | rs151045328 |
| PheGenI | rs151045328 |
| Biobank | rs151045328 |
| 1000 genomes | rs151045328 |
| hgdp | rs151045328 |
| ensembl | rs151045328 |
| geneview | rs151045328 |
| scholar | rs151045328 |
| rs151045328 | |
| pharmgkb | rs151045328 |
| gwascentral | rs151045328 |
| openSNP | rs151045328 |
| 23andMe | rs151045328 |
| SNPshot | rs151045328 |
| SNPdbe | rs151045328 |
| MSV3d | rs151045328 |
| GWAS Ctlg | rs151045328 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs151045328(T;T) |
| Alt | rs151045328(T;T) |
| Reference | Rs151045328(C;C) |
| Significance | Pathogenic |
| Disease | Usher syndrome Usher syndrome |
| Variation | info |
| Gene | USH1C |
| CLNDBN | Usher syndrome, type 1C Usher syndrome, type 1 |
| Reversed | 0 |
| HGVS | NC_000011.9:g.17552978C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000005450.8, RCV000220605.1, |
