rs1085307057
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Chromosome | 13 |
| Position | 51958517 |
| Gene | ATP7B |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1085307057 |
| dbSNP (classic) | rs1085307057 |
| ClinGen | rs1085307057 |
| ebi | rs1085307057 |
| HLI | rs1085307057 |
| Exac | rs1085307057 |
| Gnomad | rs1085307057 |
| Varsome | rs1085307057 |
| LitVar | rs1085307057 |
| Map | rs1085307057 |
| PheGenI | rs1085307057 |
| Biobank | rs1085307057 |
| 1000 genomes | rs1085307057 |
| hgdp | rs1085307057 |
| ensembl | rs1085307057 |
| geneview | rs1085307057 |
| scholar | rs1085307057 |
| rs1085307057 | |
| pharmgkb | rs1085307057 |
| gwascentral | rs1085307057 |
| openSNP | rs1085307057 |
| 23andMe | rs1085307057 |
| SNPshot | rs1085307057 |
| SNPdbe | rs1085307057 |
| MSV3d | rs1085307057 |
| GWAS Ctlg | rs1085307057 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs1085307057(T;T) |
| Alt | rs1085307057(T;T) |
| Reference | Rs1085307057(C;C) |
| Significance | Pathogenic |
| Disease | Wilson disease |
| Variation | info |
| Gene | ATP7B |
| CLNDBN | Wilson disease |
| Reversed | 1 |
| HGVS | NC_000013.10:g.52532653G>A |
| CLNSRC | |
| CLNACC | RCV000490452.1, |
