rs137853284
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs137853284(C;G) |
| Make rs137853284(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 13 |
| Position | 51958334 |
| Gene | ATP7B |
| is a | snp |
| is | mentioned by |
| dbSNP | rs137853284 |
| dbSNP (classic) | rs137853284 |
| ClinGen | rs137853284 |
| ebi | rs137853284 |
| HLI | rs137853284 |
| Exac | rs137853284 |
| Gnomad | rs137853284 |
| Varsome | rs137853284 |
| LitVar | rs137853284 |
| Map | rs137853284 |
| PheGenI | rs137853284 |
| Biobank | rs137853284 |
| 1000 genomes | rs137853284 |
| hgdp | rs137853284 |
| ensembl | rs137853284 |
| geneview | rs137853284 |
| scholar | rs137853284 |
| rs137853284 | |
| pharmgkb | rs137853284 |
| gwascentral | rs137853284 |
| openSNP | rs137853284 |
| 23andMe | rs137853284 |
| SNPshot | rs137853284 |
| SNPdbe | rs137853284 |
| MSV3d | rs137853284 |
| GWAS Ctlg | rs137853284 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs137853284(G;G) rs137853284(T;T) |
| Alt | rs137853284(G;G) rs137853284(T;T) |
| Reference | Rs137853284(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Wilson disease |
| Variation | info |
| Gene | ATP7B |
| CLNDBN | Wilson disease |
| Reversed | 1 |
| HGVS | NC_000013.10:g.52532470G>C |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000144367.2, |
[PMID 14974157] [ATP7B gene mutations in Hungarian patients with Wilson disease--case reports to illustrate the diverse clinical presentations].
[PMID 17160357] Analysis of most common mutations R778G, R778L, R778W, I1102T and H1069Q in Indian Wilson disease patients: correlation between genotype/phenotype/copper ATPase activity.
