rs1057516516
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs1057516516(A;T) |
Make rs1057516516(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 13 |
Position | 51975117 |
Gene | ATP7B |
is a | snp |
is | mentioned by |
dbSNP | rs1057516516 |
dbSNP (classic) | rs1057516516 |
ClinGen | rs1057516516 |
ebi | rs1057516516 |
HLI | rs1057516516 |
Exac | rs1057516516 |
Gnomad | rs1057516516 |
Varsome | rs1057516516 |
LitVar | rs1057516516 |
Map | rs1057516516 |
PheGenI | rs1057516516 |
Biobank | rs1057516516 |
1000 genomes | rs1057516516 |
hgdp | rs1057516516 |
ensembl | rs1057516516 |
geneview | rs1057516516 |
scholar | rs1057516516 |
rs1057516516 | |
pharmgkb | rs1057516516 |
gwascentral | rs1057516516 |
openSNP | rs1057516516 |
23andMe | rs1057516516 |
SNPshot | rs1057516516 |
SNPdbe | rs1057516516 |
MSV3d | rs1057516516 |
GWAS Ctlg | rs1057516516 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057516516(T;T) |
Alt | rs1057516516(T;T) |
Reference | Rs1057516516(A;A) |
Significance | Probable-Pathogenic |
Disease | Wilson disease |
Variation | info |
Gene | ATP7B |
CLNDBN | Wilson disease |
Reversed | 1 |
HGVS | NC_000013.10:g.52549253T>A |
CLNSRC | |
CLNACC | RCV000412018.1, |