rs367956522
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs367956522(C;C) |
Make rs367956522(C;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 13 |
Position | 51949798 |
Gene | ATP7B |
is a | snp |
is | mentioned by |
dbSNP | rs367956522 |
dbSNP (classic) | rs367956522 |
ClinGen | rs367956522 |
ebi | rs367956522 |
HLI | rs367956522 |
Exac | rs367956522 |
Gnomad | rs367956522 |
Varsome | rs367956522 |
LitVar | rs367956522 |
Map | rs367956522 |
PheGenI | rs367956522 |
Biobank | rs367956522 |
1000 genomes | rs367956522 |
hgdp | rs367956522 |
ensembl | rs367956522 |
geneview | rs367956522 |
scholar | rs367956522 |
rs367956522 | |
pharmgkb | rs367956522 |
gwascentral | rs367956522 |
openSNP | rs367956522 |
23andMe | rs367956522 |
SNPshot | rs367956522 |
SNPdbe | rs367956522 |
MSV3d | rs367956522 |
GWAS Ctlg | rs367956522 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs367956522(C;C) |
Alt | rs367956522(C;C) |
Reference | Rs367956522(T;T) |
Significance | Pathogenic |
Disease | Wilson disease not provided |
Variation | info |
Gene | ATP7B |
CLNDBN | Wilson disease not provided |
Reversed | 0 |
HGVS | NC_000013.10:g.52523934T>C |
CLNSRC | |
CLNACC | RCV000169025.1, RCV000485754.1, |