rs766149114
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;G) | 3 | Carrier of a Wilson disease mutation |
Make rs766149114(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 13 |
Position | 51950271 |
Gene | ATP7B |
is a | snp |
is | mentioned by |
dbSNP | rs766149114 |
dbSNP (classic) | rs766149114 |
ClinGen | rs766149114 |
ebi | rs766149114 |
HLI | rs766149114 |
Exac | rs766149114 |
Gnomad | rs766149114 |
Varsome | rs766149114 |
LitVar | rs766149114 |
Map | rs766149114 |
PheGenI | rs766149114 |
Biobank | rs766149114 |
1000 genomes | rs766149114 |
hgdp | rs766149114 |
ensembl | rs766149114 |
geneview | rs766149114 |
scholar | rs766149114 |
rs766149114 | |
pharmgkb | rs766149114 |
gwascentral | rs766149114 |
openSNP | rs766149114 |
23andMe | rs766149114 |
SNPshot | rs766149114 |
SNPdbe | rs766149114 |
MSV3d | rs766149114 |
GWAS Ctlg | rs766149114 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs766149114(G;G) |
Alt | rs766149114(G;G) |
Reference | Rs766149114(C;C) |
Significance | Probable-Pathogenic |
Disease | Wilson disease |
Variation | info |
Gene | ATP7B |
CLNDBN | Wilson disease |
Reversed | 0 |
HGVS | NC_000013.10:g.52524407C>G |
CLNSRC | |
CLNACC | RCV000169063.1, |