rs751710854
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs751710854(A;A) |
Make rs751710854(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 13 |
Position | 51957580 |
Gene | ATP7B |
is a | snp |
is | mentioned by |
dbSNP | rs751710854 |
dbSNP (classic) | rs751710854 |
ClinGen | rs751710854 |
ebi | rs751710854 |
HLI | rs751710854 |
Exac | rs751710854 |
Gnomad | rs751710854 |
Varsome | rs751710854 |
LitVar | rs751710854 |
Map | rs751710854 |
PheGenI | rs751710854 |
Biobank | rs751710854 |
1000 genomes | rs751710854 |
hgdp | rs751710854 |
ensembl | rs751710854 |
geneview | rs751710854 |
scholar | rs751710854 |
rs751710854 | |
pharmgkb | rs751710854 |
gwascentral | rs751710854 |
openSNP | rs751710854 |
23andMe | rs751710854 |
SNPshot | rs751710854 |
SNPdbe | rs751710854 |
MSV3d | rs751710854 |
GWAS Ctlg | rs751710854 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs751710854(A;A) |
Alt | rs751710854(A;A) |
Reference | Rs751710854(G;G) |
Significance | Probable-Pathogenic |
Disease | Wilson disease |
Variation | info |
Gene | ATP7B |
CLNDBN | Wilson disease |
Reversed | 0 |
HGVS | NC_000013.10:g.52531716G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000169151.1, |