rs732774
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs732774(A;A) |
| Make rs732774(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 13 |
| Position | 51949672 |
| Gene | ATP7B |
| is a | snp |
| is | mentioned by |
| dbSNP | rs732774 |
| dbSNP (classic) | rs732774 |
| ClinGen | rs732774 |
| ebi | rs732774 |
| HLI | rs732774 |
| Exac | rs732774 |
| Gnomad | rs732774 |
| Varsome | rs732774 |
| LitVar | rs732774 |
| Map | rs732774 |
| PheGenI | rs732774 |
| Biobank | rs732774 |
| 1000 genomes | rs732774 |
| hgdp | rs732774 |
| ensembl | rs732774 |
| geneview | rs732774 |
| scholar | rs732774 |
| rs732774 | |
| pharmgkb | rs732774 |
| gwascentral | rs732774 |
| openSNP | rs732774 |
| 23andMe | rs732774 |
| SNPshot | rs732774 |
| SNPdbe | rs732774 |
| MSV3d | rs732774 |
| GWAS Ctlg | rs732774 |
| GMAF | 0.4803 |
| 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 | rs732774(A;A) |
| Alt | rs732774(A;A) |
| Reference | Rs732774(G;G) |
| Significance | Other |
| Disease | Wilson disease not specified |
| Variation | info |
| Gene | ATP7B |
| CLNDBN | Wilson disease not specified |
| Reversed | 1 |
| HGVS | NC_000013.10:g.52523808C>T |
| CLNSRC | HGMD UniProtKB (protein) |
| CLNACC | RCV000029357.2, RCV000078044.9, |
[PMID 7626145] The Wilson disease gene: spectrum of mutations and their consequences.
