rs779323689
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs779323689(C;T) |
Make rs779323689(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 13 |
Position | 51949699 |
Gene | ATP7B |
is a | snp |
is | mentioned by |
dbSNP | rs779323689 |
dbSNP (classic) | rs779323689 |
ClinGen | rs779323689 |
ebi | rs779323689 |
HLI | rs779323689 |
Exac | rs779323689 |
Gnomad | rs779323689 |
Varsome | rs779323689 |
LitVar | rs779323689 |
Map | rs779323689 |
PheGenI | rs779323689 |
Biobank | rs779323689 |
1000 genomes | rs779323689 |
hgdp | rs779323689 |
ensembl | rs779323689 |
geneview | rs779323689 |
scholar | rs779323689 |
rs779323689 | |
pharmgkb | rs779323689 |
gwascentral | rs779323689 |
openSNP | rs779323689 |
23andMe | rs779323689 |
SNPshot | rs779323689 |
SNPdbe | rs779323689 |
MSV3d | rs779323689 |
GWAS Ctlg | rs779323689 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs779323689(T;T) |
Alt | rs779323689(T;T) |
Reference | Rs779323689(C;C) |
Significance | Probable-Pathogenic |
Disease | Wilson disease |
Variation | info |
Gene | ATP7B |
CLNDBN | Wilson disease |
Reversed | 0 |
HGVS | NC_000013.10:g.52523835C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000169455.1, |