rs779904655
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;AGCATAT) | 3 | Carrier of a Wilson disease mutation |
| (AGCATAT;AGCATAT) | 0 | common in clinvar |
| Make rs779904655(-;-) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 13 |
| Position | 51960254 |
| Gene | ATP7B |
| is a | snp |
| is | mentioned by |
| dbSNP | rs779904655 |
| dbSNP (classic) | rs779904655 |
| ClinGen | rs779904655 |
| ebi | rs779904655 |
| HLI | rs779904655 |
| Exac | rs779904655 |
| Gnomad | rs779904655 |
| Varsome | rs779904655 |
| LitVar | rs779904655 |
| Map | rs779904655 |
| PheGenI | rs779904655 |
| Biobank | rs779904655 |
| 1000 genomes | rs779904655 |
| hgdp | rs779904655 |
| ensembl | rs779904655 |
| geneview | rs779904655 |
| scholar | rs779904655 |
| rs779904655 | |
| pharmgkb | rs779904655 |
| gwascentral | rs779904655 |
| openSNP | rs779904655 |
| 23andMe | rs779904655 |
| SNPshot | rs779904655 |
| SNPdbe | rs779904655 |
| MSV3d | rs779904655 |
| GWAS Ctlg | rs779904655 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs779904655(-;-) |
| Alt | rs779904655(-;-) |
| Reference | Rs779904655(AGCATAT;AGCATAT) |
| Significance | Probable-Pathogenic |
| Disease | Wilson disease |
| Variation | info |
| Gene | ATP7B |
| CLNDBN | Wilson disease |
| Reversed | 0 |
| HGVS | NC_000013.10:g.52534390_52534396delAGCATAT |
| CLNSRC | Counsyl |
| CLNACC | RCV000169214.1, |
