rs753236073
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs753236073(G;T) |
Make rs753236073(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 13 |
Position | 51974906 |
Gene | ATP7B |
is a | snp |
is | mentioned by |
dbSNP | rs753236073 |
dbSNP (classic) | rs753236073 |
ClinGen | rs753236073 |
ebi | rs753236073 |
HLI | rs753236073 |
Exac | rs753236073 |
Gnomad | rs753236073 |
Varsome | rs753236073 |
LitVar | rs753236073 |
Map | rs753236073 |
PheGenI | rs753236073 |
Biobank | rs753236073 |
1000 genomes | rs753236073 |
hgdp | rs753236073 |
ensembl | rs753236073 |
geneview | rs753236073 |
scholar | rs753236073 |
rs753236073 | |
pharmgkb | rs753236073 |
gwascentral | rs753236073 |
openSNP | rs753236073 |
23andMe | rs753236073 |
SNPshot | rs753236073 |
SNPdbe | rs753236073 |
MSV3d | rs753236073 |
GWAS Ctlg | rs753236073 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs753236073(A;A) rs753236073(T;T) |
Alt | rs753236073(A;A) rs753236073(T;T) |
Reference | Rs753236073(G;G) |
Significance | Pathogenic |
Disease | Wilson disease not provided |
Variation | info |
Gene | ATP7B |
CLNDBN | Wilson disease not provided |
Reversed | 0 |
HGVS | NC_000013.10:g.52549042G>T |
CLNSRC | |
CLNACC | RCV000169629.1, RCV000293037.1, |