rs749472361
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs749472361(A;A) |
| Make rs749472361(A;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 13 |
| Position | 51937484 |
| Gene | ATP7B |
| is a | snp |
| is | mentioned by |
| dbSNP | rs749472361 |
| dbSNP (classic) | rs749472361 |
| ClinGen | rs749472361 |
| ebi | rs749472361 |
| HLI | rs749472361 |
| Exac | rs749472361 |
| Gnomad | rs749472361 |
| Varsome | rs749472361 |
| LitVar | rs749472361 |
| Map | rs749472361 |
| PheGenI | rs749472361 |
| Biobank | rs749472361 |
| 1000 genomes | rs749472361 |
| hgdp | rs749472361 |
| ensembl | rs749472361 |
| geneview | rs749472361 |
| scholar | rs749472361 |
| rs749472361 | |
| pharmgkb | rs749472361 |
| gwascentral | rs749472361 |
| openSNP | rs749472361 |
| 23andMe | rs749472361 |
| SNPshot | rs749472361 |
| SNPdbe | rs749472361 |
| MSV3d | rs749472361 |
| GWAS Ctlg | rs749472361 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs749472361(A;A) |
| Alt | rs749472361(A;A) |
| Reference | Rs749472361(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Wilson disease |
| Variation | info |
| Gene | ATP7B |
| CLNDBN | Wilson disease |
| Reversed | 0 |
| HGVS | NC_000013.10:g.52511620G>A |
| CLNSRC | |
| CLNACC | RCV000169572.1, |
