rs138427376
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs138427376(A;G) |
| Make rs138427376(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 13 |
| Position | 51968544 |
| Gene | ATP7B |
| is a | snp |
| is | mentioned by |
| dbSNP | rs138427376 |
| dbSNP (classic) | rs138427376 |
| ClinGen | rs138427376 |
| ebi | rs138427376 |
| HLI | rs138427376 |
| Exac | rs138427376 |
| Gnomad | rs138427376 |
| Varsome | rs138427376 |
| LitVar | rs138427376 |
| Map | rs138427376 |
| PheGenI | rs138427376 |
| Biobank | rs138427376 |
| 1000 genomes | rs138427376 |
| hgdp | rs138427376 |
| ensembl | rs138427376 |
| geneview | rs138427376 |
| scholar | rs138427376 |
| rs138427376 | |
| pharmgkb | rs138427376 |
| gwascentral | rs138427376 |
| openSNP | rs138427376 |
| 23andMe | rs138427376 |
| SNPshot | rs138427376 |
| SNPdbe | rs138427376 |
| MSV3d | rs138427376 |
| GWAS Ctlg | rs138427376 |
| GMAF | 0.003673 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs138427376(G;G) |
| Alt | rs138427376(G;G) |
| Reference | Rs138427376(A;A) |
| Significance | Other |
| Disease | Wilson disease not specified |
| Variation | info |
| Gene | ATP7B |
| CLNDBN | Wilson disease not specified |
| Reversed | 0 |
| HGVS | NC_000013.10:g.52542680A>G |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000029352.4, RCV000374856.1, |
[PMID 18373411] New mutations in the Wilson disease gene, ATP7B: implications for molecular testing.
