rs137853281
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs137853281(-;-) |
| Make rs137853281(-;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 13 |
| Position | 51942396 |
| Gene | ATP7B |
| is a | snp |
| is | mentioned by |
| dbSNP | rs137853281 |
| dbSNP (classic) | rs137853281 |
| ClinGen | rs137853281 |
| ebi | rs137853281 |
| HLI | rs137853281 |
| Exac | rs137853281 |
| Gnomad | rs137853281 |
| Varsome | rs137853281 |
| LitVar | rs137853281 |
| Map | rs137853281 |
| PheGenI | rs137853281 |
| Biobank | rs137853281 |
| 1000 genomes | rs137853281 |
| hgdp | rs137853281 |
| ensembl | rs137853281 |
| geneview | rs137853281 |
| scholar | rs137853281 |
| rs137853281 | |
| pharmgkb | rs137853281 |
| gwascentral | rs137853281 |
| openSNP | rs137853281 |
| 23andMe | rs137853281 |
| SNPshot | rs137853281 |
| SNPdbe | rs137853281 |
| MSV3d | rs137853281 |
| GWAS Ctlg | rs137853281 |
| Merged from | Rs137853286 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs137853281(-;-) |
| Alt | rs137853281(-;-) |
| Reference | Rs137853281(C;C) |
| Significance | Pathogenic |
| Disease | Wilson disease |
| Variation | info |
| Gene | ATP7B |
| CLNDBN | Wilson disease |
| Reversed | 1 |
| HGVS | NC_000013.10:g.52516532delG |
| CLNSRC | |
| CLNACC | RCV000169026.3, |
[PMID 10994503] [Analysis of mutations and haplotypes of polymorphic markers in patients with Wilson-Konovalov disease from Bashkir].
[PMID 15024742] Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients.
[PMID 17897870] Neurological manifestations and ATP7B mutations in Wilson's disease.
[PMID 18855987
] High frequency of the c.3207C>A (p.H1069Q) mutation in ATP7B gene of Lithuanian patients with hepatic presentation of Wilson's disease.
