rs201738967
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 3 | Carrier of a Wilson disease mutation |
(T;T) | 0 | common in clinvar |
Make rs201738967(C;C) |
Reference | GRCh38 38.1/142 |
Chromosome | 13 |
Position | 51975098 |
Gene | ATP7B |
is a | snp |
is | mentioned by |
dbSNP | rs201738967 |
dbSNP (classic) | rs201738967 |
ClinGen | rs201738967 |
ebi | rs201738967 |
HLI | rs201738967 |
Exac | rs201738967 |
Gnomad | rs201738967 |
Varsome | rs201738967 |
LitVar | rs201738967 |
Map | rs201738967 |
PheGenI | rs201738967 |
Biobank | rs201738967 |
1000 genomes | rs201738967 |
hgdp | rs201738967 |
ensembl | rs201738967 |
geneview | rs201738967 |
scholar | rs201738967 |
rs201738967 | |
pharmgkb | rs201738967 |
gwascentral | rs201738967 |
openSNP | rs201738967 |
23andMe | rs201738967 |
SNPshot | rs201738967 |
SNPdbe | rs201738967 |
MSV3d | rs201738967 |
GWAS Ctlg | rs201738967 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs201738967(C;C) |
Alt | rs201738967(C;C) |
Reference | Rs201738967(T;T) |
Significance | Other |
Disease | Wilson disease not provided |
Variation | info |
Gene | ATP7B |
CLNDBN | Wilson disease not provided |
Reversed | 0 |
HGVS | NC_000013.10:g.52549234T>C |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000145251.2, RCV000416017.1, |