rs193922107
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs193922107(C;T) |
Make rs193922107(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 51939091 |
Gene | ATP7B |
is a | snp |
is | mentioned by |
dbSNP | rs193922107 |
dbSNP (classic) | rs193922107 |
ClinGen | rs193922107 |
ebi | rs193922107 |
HLI | rs193922107 |
Exac | rs193922107 |
Gnomad | rs193922107 |
Varsome | rs193922107 |
LitVar | rs193922107 |
Map | rs193922107 |
PheGenI | rs193922107 |
Biobank | rs193922107 |
1000 genomes | rs193922107 |
hgdp | rs193922107 |
ensembl | rs193922107 |
geneview | rs193922107 |
scholar | rs193922107 |
rs193922107 | |
pharmgkb | rs193922107 |
gwascentral | rs193922107 |
openSNP | rs193922107 |
23andMe | rs193922107 |
SNPshot | rs193922107 |
SNPdbe | rs193922107 |
MSV3d | rs193922107 |
GWAS Ctlg | rs193922107 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs193922107(T;T) |
Alt | rs193922107(T;T) |
Reference | Rs193922107(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.52513227G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000029374.3, RCV000413521.1, |
[PMID 19118] Studies on the cardiovascular effects of pindolol in DOCA/saline hypertensive rats.
[PMID 10447265] Mutation analysis in patients with Wilson disease: identification of 4 novel mutations. Mutation in brief no. 250. Online.
[PMID 10544227] Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations.
[PMID 16283883] Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's disease.
[PMID 16684691] Familial gene analysis for Wilson disease from north-west Indian patients.
[PMID 18483695] Mutational analysis of ATP7B gene in Egyptian children with Wilson disease: 12 novel mutations.