rs558037268
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;T) | 3 | Carrier of a Wilson disease mutation |
(TT;TT) | 0 | common in clinvar |
Make rs558037268(-;-) |
Make rs558037268(-;TT) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 13 |
Position | 51974695 |
Gene | ATP7B |
is a | snp |
is | mentioned by |
dbSNP | rs558037268 |
dbSNP (classic) | rs558037268 |
ClinGen | rs558037268 |
ebi | rs558037268 |
HLI | rs558037268 |
Exac | rs558037268 |
Gnomad | rs558037268 |
Varsome | rs558037268 |
LitVar | rs558037268 |
Map | rs558037268 |
PheGenI | rs558037268 |
Biobank | rs558037268 |
1000 genomes | rs558037268 |
hgdp | rs558037268 |
ensembl | rs558037268 |
geneview | rs558037268 |
scholar | rs558037268 |
rs558037268 | |
pharmgkb | rs558037268 |
gwascentral | rs558037268 |
openSNP | rs558037268 |
23andMe | rs558037268 |
SNPshot | rs558037268 |
SNPdbe | rs558037268 |
MSV3d | rs558037268 |
GWAS Ctlg | rs558037268 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs558037268(-;-) |
Alt | rs558037268(-;-) |
Reference | Rs558037268(TT;TT) |
Significance | Probable-Pathogenic |
Disease | Wilson disease |
Variation | info |
Gene | ATP7B |
CLNDBN | Wilson disease |
Reversed | 0 |
HGVS | NC_000013.10:g.52548831_52548832delTT |
CLNSRC | |
CLNACC | RCV000169375.1, |