rs372436901
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs372436901(G;G) |
Make rs372436901(G;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 13 |
Position | 51960300 |
Gene | ATP7B |
is a | snp |
is | mentioned by |
dbSNP | rs372436901 |
dbSNP (classic) | rs372436901 |
ClinGen | rs372436901 |
ebi | rs372436901 |
HLI | rs372436901 |
Exac | rs372436901 |
Gnomad | rs372436901 |
Varsome | rs372436901 |
LitVar | rs372436901 |
Map | rs372436901 |
PheGenI | rs372436901 |
Biobank | rs372436901 |
1000 genomes | rs372436901 |
hgdp | rs372436901 |
ensembl | rs372436901 |
geneview | rs372436901 |
scholar | rs372436901 |
rs372436901 | |
pharmgkb | rs372436901 |
gwascentral | rs372436901 |
openSNP | rs372436901 |
23andMe | rs372436901 |
SNPshot | rs372436901 |
SNPdbe | rs372436901 |
MSV3d | rs372436901 |
GWAS Ctlg | rs372436901 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs372436901(C;C) rs372436901(G;G) |
Alt | rs372436901(C;C) rs372436901(G;G) |
Reference | Rs372436901(T;T) |
Significance | Pathogenic |
Disease | Wilson disease |
Variation | info |
Gene | ATP7B |
CLNDBN | Wilson disease |
Reversed | 0 |
HGVS | NC_000013.10:g.52534436T>G |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000145255.1, |