rs777362050
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;T) | 3 | Carrier of a Wilson disease mutation |
(T;T) | 0 | common in clinvar |
Make rs777362050(-;-) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 13 |
Position | 51950334 |
Gene | ATP7B |
is a | snp |
is | mentioned by |
dbSNP | rs777362050 |
dbSNP (classic) | rs777362050 |
ClinGen | rs777362050 |
ebi | rs777362050 |
HLI | rs777362050 |
Exac | rs777362050 |
Gnomad | rs777362050 |
Varsome | rs777362050 |
LitVar | rs777362050 |
Map | rs777362050 |
PheGenI | rs777362050 |
Biobank | rs777362050 |
1000 genomes | rs777362050 |
hgdp | rs777362050 |
ensembl | rs777362050 |
geneview | rs777362050 |
scholar | rs777362050 |
rs777362050 | |
pharmgkb | rs777362050 |
gwascentral | rs777362050 |
openSNP | rs777362050 |
23andMe | rs777362050 |
SNPshot | rs777362050 |
SNPdbe | rs777362050 |
MSV3d | rs777362050 |
GWAS Ctlg | rs777362050 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs777362050(-;-) |
Alt | rs777362050(-;-) |
Reference | Rs777362050(T;T) |
Significance | Probable-Pathogenic |
Disease | Wilson disease |
Variation | info |
Gene | ATP7B |
CLNDBN | Wilson disease |
Reversed | 0 |
HGVS | NC_000013.10:g.52524470delT |
CLNSRC | |
CLNACC | RCV000169035.1, |