rs750019452
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs750019452(A;A) |
Make rs750019452(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 13 |
Position | 51949723 |
Gene | ATP7B |
is a | snp |
is | mentioned by |
dbSNP | rs750019452 |
dbSNP (classic) | rs750019452 |
ClinGen | rs750019452 |
ebi | rs750019452 |
HLI | rs750019452 |
Exac | rs750019452 |
Gnomad | rs750019452 |
Varsome | rs750019452 |
LitVar | rs750019452 |
Map | rs750019452 |
PheGenI | rs750019452 |
Biobank | rs750019452 |
1000 genomes | rs750019452 |
hgdp | rs750019452 |
ensembl | rs750019452 |
geneview | rs750019452 |
scholar | rs750019452 |
rs750019452 | |
pharmgkb | rs750019452 |
gwascentral | rs750019452 |
openSNP | rs750019452 |
23andMe | rs750019452 |
SNPshot | rs750019452 |
SNPdbe | rs750019452 |
MSV3d | rs750019452 |
GWAS Ctlg | rs750019452 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs750019452(A;A) |
Alt | rs750019452(A;A) |
Reference | Rs750019452(G;G) |
Significance | Probable-Pathogenic |
Disease | Wilson disease |
Variation | info |
Gene | ATP7B |
CLNDBN | Wilson disease |
Reversed | 0 |
HGVS | NC_000013.10:g.52523859G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000169002.1, |