rs1061472
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs1061472(A;G) |
| Make rs1061472(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 13 |
| Position | 51950352 |
| Gene | ATP7B |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1061472 |
| dbSNP (classic) | rs1061472 |
| ClinGen | rs1061472 |
| ebi | rs1061472 |
| HLI | rs1061472 |
| Exac | rs1061472 |
| Gnomad | rs1061472 |
| Varsome | rs1061472 |
| LitVar | rs1061472 |
| Map | rs1061472 |
| PheGenI | rs1061472 |
| Biobank | rs1061472 |
| 1000 genomes | rs1061472 |
| hgdp | rs1061472 |
| ensembl | rs1061472 |
| geneview | rs1061472 |
| scholar | rs1061472 |
| rs1061472 | |
| pharmgkb | rs1061472 |
| gwascentral | rs1061472 |
| openSNP | rs1061472 |
| 23andMe | rs1061472 |
| SNPshot | rs1061472 |
| SNPdbe | rs1061472 |
| MSV3d | rs1061472 |
| GWAS Ctlg | rs1061472 |
| GMAF | 0.4927 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 22356903] Association of K832R and R952K SNPs of Wilson's Disease Gene with Alzheimer's Disease
| ClinVar | |
|---|---|
| Risk | rs1061472(G;G) |
| Alt | rs1061472(G;G) |
| Reference | Rs1061472(A;A) |
| Significance | Non-pathogenic |
| Disease | Wilson disease not specified |
| Variation | info |
| Gene | ATP7B |
| CLNDBN | Wilson disease not specified |
| Reversed | 1 |
| HGVS | NC_000013.10:g.52524488T>C |
| CLNSRC | HGMD UniProtKB (protein) |
| CLNACC | RCV000029356.2, RCV000078043.8, |
[PMID 11405812] Mutation analysis and the correlation between genotype and phenotype of Arg778Leu mutation in chinese patients with Wilson disease.
[PMID 24852429] The ATP7B genetic polymorphisms predict clinical outcome to platinum-based chemotherapy in lung cancer patients
