rs60431989
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;G) | 3 | Carrier of a Wilson disease mutation |
| Make rs60431989(G;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 13 |
| Position | 51941194 |
| Gene | ATP7B |
| is a | snp |
| is | mentioned by |
| dbSNP | rs60431989 |
| dbSNP (classic) | rs60431989 |
| ClinGen | rs60431989 |
| ebi | rs60431989 |
| HLI | rs60431989 |
| Exac | rs60431989 |
| Gnomad | rs60431989 |
| Varsome | rs60431989 |
| LitVar | rs60431989 |
| Map | rs60431989 |
| PheGenI | rs60431989 |
| Biobank | rs60431989 |
| 1000 genomes | rs60431989 |
| hgdp | rs60431989 |
| ensembl | rs60431989 |
| geneview | rs60431989 |
| scholar | rs60431989 |
| rs60431989 | |
| pharmgkb | rs60431989 |
| gwascentral | rs60431989 |
| openSNP | rs60431989 |
| 23andMe | rs60431989 |
| SNPshot | rs60431989 |
| SNPdbe | rs60431989 |
| MSV3d | rs60431989 |
| GWAS Ctlg | rs60431989 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs60431989(G;G) |
| Alt | rs60431989(G;G) |
| Reference | Rs60431989(A;A) |
| Significance | Other |
| Disease | Wilson disease |
| Variation | info |
| Gene | ATP7B |
| CLNDBN | Wilson disease |
| Reversed | 0 |
| HGVS | NC_000013.10:g.52515330A>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000004067.3, RCV000023582.5, |
