rs750019452
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs750019452(A;A) |
| Make rs750019452(A;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 13 |
| Position | 51949723 |
| Gene | ATP7B |
| is a | snp |
| is | mentioned by |
| dbSNP | rs750019452 |
| dbSNP (classic) | rs750019452 |
| ClinGen | rs750019452 |
| ebi | rs750019452 |
| HLI | rs750019452 |
| Exac | rs750019452 |
| Gnomad | rs750019452 |
| Varsome | rs750019452 |
| LitVar | rs750019452 |
| Map | rs750019452 |
| PheGenI | rs750019452 |
| Biobank | rs750019452 |
| 1000 genomes | rs750019452 |
| hgdp | rs750019452 |
| ensembl | rs750019452 |
| geneview | rs750019452 |
| scholar | rs750019452 |
| rs750019452 | |
| pharmgkb | rs750019452 |
| gwascentral | rs750019452 |
| openSNP | rs750019452 |
| 23andMe | rs750019452 |
| SNPshot | rs750019452 |
| SNPdbe | rs750019452 |
| MSV3d | rs750019452 |
| GWAS Ctlg | rs750019452 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs750019452(A;A) |
| Alt | rs750019452(A;A) |
| Reference | Rs750019452(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Wilson disease |
| Variation | info |
| Gene | ATP7B |
| CLNDBN | Wilson disease |
| Reversed | 0 |
| HGVS | NC_000013.10:g.52523859G>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000169002.1, |
