rs193922102
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs193922102(G;G) |
| Make rs193922102(G;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 13 |
| Position | 51958552 |
| Gene | ATP7B |
| is a | snp |
| is | mentioned by |
| dbSNP | rs193922102 |
| dbSNP (classic) | rs193922102 |
| ClinGen | rs193922102 |
| ebi | rs193922102 |
| HLI | rs193922102 |
| Exac | rs193922102 |
| Gnomad | rs193922102 |
| Varsome | rs193922102 |
| LitVar | rs193922102 |
| Map | rs193922102 |
| PheGenI | rs193922102 |
| Biobank | rs193922102 |
| 1000 genomes | rs193922102 |
| hgdp | rs193922102 |
| ensembl | rs193922102 |
| geneview | rs193922102 |
| scholar | rs193922102 |
| rs193922102 | |
| pharmgkb | rs193922102 |
| gwascentral | rs193922102 |
| openSNP | rs193922102 |
| 23andMe | rs193922102 |
| SNPshot | rs193922102 |
| SNPdbe | rs193922102 |
| MSV3d | rs193922102 |
| GWAS Ctlg | rs193922102 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs193922102(C;C) rs193922102(G;G) |
| Alt | rs193922102(C;C) rs193922102(G;G) |
| Reference | Rs193922102(T;T) |
| Significance | Other |
| Disease | Wilson disease |
| Variation | info |
| Gene | ATP7B |
| CLNDBN | Wilson disease |
| Reversed | 1 |
| HGVS | NC_000013.10:g.52532688A>C |
| CLNSRC | ClinVar University of Chicago |
| CLNACC | RCV000029354.3, |
[PMID 12325021] Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B.
[PMID 18728530] High incidence and allelic homogeneity of Wilson disease in 2 isolated populations: a prerequisite for efficient disease prevention programs.
