rs201038679
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 3 | Carrier of a Wilson disease mutation |
| (G;G) | 0 | common in clinvar |
| Make rs201038679(A;A) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 13 |
| Position | 51946369 |
| Gene | ATP7B |
| is a | snp |
| is | mentioned by |
| dbSNP | rs201038679 |
| dbSNP (classic) | rs201038679 |
| ClinGen | rs201038679 |
| ebi | rs201038679 |
| HLI | rs201038679 |
| Exac | rs201038679 |
| Gnomad | rs201038679 |
| Varsome | rs201038679 |
| LitVar | rs201038679 |
| Map | rs201038679 |
| PheGenI | rs201038679 |
| Biobank | rs201038679 |
| 1000 genomes | rs201038679 |
| hgdp | rs201038679 |
| ensembl | rs201038679 |
| geneview | rs201038679 |
| scholar | rs201038679 |
| rs201038679 | |
| pharmgkb | rs201038679 |
| gwascentral | rs201038679 |
| openSNP | rs201038679 |
| 23andMe | rs201038679 |
| SNPshot | rs201038679 |
| SNPdbe | rs201038679 |
| MSV3d | rs201038679 |
| GWAS Ctlg | rs201038679 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs201038679(A;A) |
| Alt | rs201038679(A;A) |
| Reference | Rs201038679(G;G) |
| Significance | Pathogenic |
| Disease | Wilson disease not provided |
| Variation | info |
| Gene | ATP7B |
| CLNDBN | Wilson disease not provided |
| Reversed | 0 |
| HGVS | NC_000013.10:g.52520505G>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000169179.1, RCV000362786.1, |
