rs777362050
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;T) | 3 | Carrier of a Wilson disease mutation |
| (T;T) | 0 | common in clinvar |
| Make rs777362050(-;-) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 13 |
| Position | 51950334 |
| Gene | ATP7B |
| is a | snp |
| is | mentioned by |
| dbSNP | rs777362050 |
| dbSNP (classic) | rs777362050 |
| ClinGen | rs777362050 |
| ebi | rs777362050 |
| HLI | rs777362050 |
| Exac | rs777362050 |
| Gnomad | rs777362050 |
| Varsome | rs777362050 |
| LitVar | rs777362050 |
| Map | rs777362050 |
| PheGenI | rs777362050 |
| Biobank | rs777362050 |
| 1000 genomes | rs777362050 |
| hgdp | rs777362050 |
| ensembl | rs777362050 |
| geneview | rs777362050 |
| scholar | rs777362050 |
| rs777362050 | |
| pharmgkb | rs777362050 |
| gwascentral | rs777362050 |
| openSNP | rs777362050 |
| 23andMe | rs777362050 |
| SNPshot | rs777362050 |
| SNPdbe | rs777362050 |
| MSV3d | rs777362050 |
| GWAS Ctlg | rs777362050 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs777362050(-;-) |
| Alt | rs777362050(-;-) |
| Reference | Rs777362050(T;T) |
| Significance | Probable-Pathogenic |
| Disease | Wilson disease |
| Variation | info |
| Gene | ATP7B |
| CLNDBN | Wilson disease |
| Reversed | 0 |
| HGVS | NC_000013.10:g.52524470delT |
| CLNSRC | |
| CLNACC | RCV000169035.1, |
