rs776280797
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | Carrier of a Wilson disease mutation |
Make rs776280797(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 13 |
Position | 51939104 |
Gene | ATP7B |
is a | snp |
is | mentioned by |
dbSNP | rs776280797 |
dbSNP (classic) | rs776280797 |
ClinGen | rs776280797 |
ebi | rs776280797 |
HLI | rs776280797 |
Exac | rs776280797 |
Gnomad | rs776280797 |
Varsome | rs776280797 |
LitVar | rs776280797 |
Map | rs776280797 |
PheGenI | rs776280797 |
Biobank | rs776280797 |
1000 genomes | rs776280797 |
hgdp | rs776280797 |
ensembl | rs776280797 |
geneview | rs776280797 |
scholar | rs776280797 |
rs776280797 | |
pharmgkb | rs776280797 |
gwascentral | rs776280797 |
openSNP | rs776280797 |
23andMe | rs776280797 |
SNPshot | rs776280797 |
SNPdbe | rs776280797 |
MSV3d | rs776280797 |
GWAS Ctlg | rs776280797 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs776280797(T;T) |
Alt | rs776280797(T;T) |
Reference | Rs776280797(C;C) |
Significance | Probable-Pathogenic |
Disease | Wilson disease |
Variation | info |
Gene | ATP7B |
CLNDBN | Wilson disease |
Reversed | 0 |
HGVS | NC_000013.10:g.52513240C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000169211.2, |