rs151148854
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs151148854(C;C) |
| Make rs151148854(C;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 1 |
| Position | 215675618 |
| Gene | USH2A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs151148854 |
| dbSNP (classic) | rs151148854 |
| ClinGen | rs151148854 |
| ebi | rs151148854 |
| HLI | rs151148854 |
| Exac | rs151148854 |
| Gnomad | rs151148854 |
| Varsome | rs151148854 |
| LitVar | rs151148854 |
| Map | rs151148854 |
| PheGenI | rs151148854 |
| Biobank | rs151148854 |
| 1000 genomes | rs151148854 |
| hgdp | rs151148854 |
| ensembl | rs151148854 |
| geneview | rs151148854 |
| scholar | rs151148854 |
| rs151148854 | |
| pharmgkb | rs151148854 |
| gwascentral | rs151148854 |
| openSNP | rs151148854 |
| 23andMe | rs151148854 |
| SNPshot | rs151148854 |
| SNPdbe | rs151148854 |
| MSV3d | rs151148854 |
| GWAS Ctlg | rs151148854 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs151148854(C;C) |
| Alt | rs151148854(C;C) |
| Reference | Rs151148854(T;T) |
| Significance | Pathogenic |
| Disease | Usher syndrome |
| Variation | info |
| Gene | USH2A |
| CLNDBN | Usher syndrome, type 2A |
| Reversed | 0 |
| HGVS | NC_000001.10:g.215848960T>C |
| CLNSRC | ClinVar |
| CLNACC | RCV000041714.2, |
