rs137853287
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| (-;C) | 3 | Carrier of a Wilson disease mutation |
| Make rs137853287(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 13 |
| Position | 51958367 |
| Gene | ATP7B |
| is a | snp |
| is | mentioned by |
| dbSNP | rs137853287 |
| dbSNP (classic) | rs137853287 |
| ClinGen | rs137853287 |
| ebi | rs137853287 |
| HLI | rs137853287 |
| Exac | rs137853287 |
| Gnomad | rs137853287 |
| Varsome | rs137853287 |
| LitVar | rs137853287 |
| Map | rs137853287 |
| PheGenI | rs137853287 |
| Biobank | rs137853287 |
| 1000 genomes | rs137853287 |
| hgdp | rs137853287 |
| ensembl | rs137853287 |
| geneview | rs137853287 |
| scholar | rs137853287 |
| rs137853287 | |
| pharmgkb | rs137853287 |
| gwascentral | rs137853287 |
| openSNP | rs137853287 |
| 23andMe | rs137853287 |
| SNPshot | rs137853287 |
| SNPdbe | rs137853287 |
| MSV3d | rs137853287 |
| GWAS Ctlg | rs137853287 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs137853287(C;C) |
| Alt | rs137853287(C;C) |
| Reference | Rs137853287(-;-) |
| Significance | Untested |
| Disease | Wilson disease |
| Variation | info |
| Gene | ATP7B |
| CLNDBN | Wilson disease |
| Reversed | 1 |
| HGVS | NC_000013.10:g.52532503dupG |
| CLNSRC | ClinVar |
| CLNACC | RCV000144366.1, |
[PMID 9199563
] Haplotype and mutation analysis in Japanese patients with Wilson disease.
[PMID 9504786] Early and severe neurological features in a Wilson disease patient compound heterozygous for two frameshift mutations.
[PMID 12955875] Diagnosis and phenotypic classification of Wilson disease.
[PMID 16791614] Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing.
[PMID 19118915] Genotype-phenotype correlation in Italian children with Wilson's disease.
