rs181250704
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs181250704(A;A) |
Make rs181250704(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 13 |
Position | 51935019 |
Gene | ATP7B |
is a | snp |
is | mentioned by |
dbSNP | rs181250704 |
dbSNP (classic) | rs181250704 |
ClinGen | rs181250704 |
ebi | rs181250704 |
HLI | rs181250704 |
Exac | rs181250704 |
Gnomad | rs181250704 |
Varsome | rs181250704 |
LitVar | rs181250704 |
Map | rs181250704 |
PheGenI | rs181250704 |
Biobank | rs181250704 |
1000 genomes | rs181250704 |
hgdp | rs181250704 |
ensembl | rs181250704 |
geneview | rs181250704 |
scholar | rs181250704 |
rs181250704 | |
pharmgkb | rs181250704 |
gwascentral | rs181250704 |
openSNP | rs181250704 |
23andMe | rs181250704 |
SNPshot | rs181250704 |
SNPdbe | rs181250704 |
MSV3d | rs181250704 |
GWAS Ctlg | rs181250704 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs181250704(A;A) |
Alt | rs181250704(A;A) |
Reference | Rs181250704(G;G) |
Significance | Probable-Pathogenic |
Disease | Wilson disease not specified |
Variation | info |
Gene | ATP7B |
CLNDBN | Wilson disease not specified |
Reversed | 0 |
HGVS | NC_000013.10:g.52509155G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000145282.1, RCV000309770.2, |