rs193922109
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Carrier of a Wilson disease mutation |
| Make rs193922109(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 13 |
| Position | 51937342 |
| Gene | ATP7B |
| is a | snp |
| is | mentioned by |
| dbSNP | rs193922109 |
| dbSNP (classic) | rs193922109 |
| ClinGen | rs193922109 |
| ebi | rs193922109 |
| HLI | rs193922109 |
| Exac | rs193922109 |
| Gnomad | rs193922109 |
| Varsome | rs193922109 |
| LitVar | rs193922109 |
| Map | rs193922109 |
| PheGenI | rs193922109 |
| Biobank | rs193922109 |
| 1000 genomes | rs193922109 |
| hgdp | rs193922109 |
| ensembl | rs193922109 |
| geneview | rs193922109 |
| scholar | rs193922109 |
| rs193922109 | |
| pharmgkb | rs193922109 |
| gwascentral | rs193922109 |
| openSNP | rs193922109 |
| 23andMe | rs193922109 |
| SNPshot | rs193922109 |
| SNPdbe | rs193922109 |
| MSV3d | rs193922109 |
| GWAS Ctlg | rs193922109 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs193922109(T;T) |
| Alt | rs193922109(T;T) |
| Reference | Rs193922109(C;C) |
| Significance | Other |
| Disease | Wilson disease not provided |
| Variation | info |
| Gene | ATP7B |
| CLNDBN | Wilson disease not provided |
| Reversed | 1 |
| HGVS | NC_000013.10:g.52511478G>A |
| CLNSRC | ClinVar University of Chicago |
| CLNACC | RCV000029377.4, RCV000494120.1, |
[PMID 1789787] Two-dimensional nuclear magnetic resonance study of brain natriuretic peptide in aqueous solution.
[PMID 8533760
] Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations.
[PMID 9311736] Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses.
[PMID 11472373] Haemolytic onset of Wilson disease in a patient with homozygous truncation of ATP7B at Arg1319.
[PMID 16545904] Different neurological outcome of liver transplantation for Wilson's disease in two homozygotic twins.
[PMID 18034201] Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: identification of 17 novel mutations and its genetic heterogeneity.
