rs137853285
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 3 | Carrier of a Wilson disease mutation |
| (G;G) | 0 | common in clinvar |
| Make rs137853285(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 13 |
| Position | 51958538 |
| Gene | ATP7B |
| is a | snp |
| is | mentioned by |
| dbSNP | rs137853285 |
| dbSNP (classic) | rs137853285 |
| ClinGen | rs137853285 |
| ebi | rs137853285 |
| HLI | rs137853285 |
| Exac | rs137853285 |
| Gnomad | rs137853285 |
| Varsome | rs137853285 |
| LitVar | rs137853285 |
| Map | rs137853285 |
| PheGenI | rs137853285 |
| Biobank | rs137853285 |
| 1000 genomes | rs137853285 |
| hgdp | rs137853285 |
| ensembl | rs137853285 |
| geneview | rs137853285 |
| scholar | rs137853285 |
| rs137853285 | |
| pharmgkb | rs137853285 |
| gwascentral | rs137853285 |
| openSNP | rs137853285 |
| 23andMe | rs137853285 |
| SNPshot | rs137853285 |
| SNPdbe | rs137853285 |
| MSV3d | rs137853285 |
| GWAS Ctlg | rs137853285 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs137853285(A;A) |
| Alt | rs137853285(A;A) |
| Reference | Rs137853285(G;G) |
| Significance | Pathogenic |
| Disease | Wilson disease |
| Variation | info |
| Gene | ATP7B |
| CLNDBN | Wilson disease |
| Reversed | 1 |
| HGVS | NC_000013.10:g.52532674C>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000144365.2, |
[PMID 11857545] Common mutations of ATP7B in Wilson disease patients from Hungary.
[PMID 16791614] Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing.
