rs191312027
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs191312027(C;T) |
Make rs191312027(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 13 |
Position | 51950132 |
Gene | ATP7B |
is a | snp |
is | mentioned by |
dbSNP | rs191312027 |
dbSNP (classic) | rs191312027 |
ClinGen | rs191312027 |
ebi | rs191312027 |
HLI | rs191312027 |
Exac | rs191312027 |
Gnomad | rs191312027 |
Varsome | rs191312027 |
LitVar | rs191312027 |
Map | rs191312027 |
PheGenI | rs191312027 |
Biobank | rs191312027 |
1000 genomes | rs191312027 |
hgdp | rs191312027 |
ensembl | rs191312027 |
geneview | rs191312027 |
scholar | rs191312027 |
rs191312027 | |
pharmgkb | rs191312027 |
gwascentral | rs191312027 |
openSNP | rs191312027 |
23andMe | rs191312027 |
SNPshot | rs191312027 |
SNPdbe | rs191312027 |
MSV3d | rs191312027 |
GWAS Ctlg | rs191312027 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs191312027(A;A) rs191312027(T;T) |
Alt | rs191312027(A;A) rs191312027(T;T) |
Reference | Rs191312027(C;C) |
Significance | Pathogenic |
Disease | Wilson disease not provided |
Variation | info |
Gene | ATP7B |
CLNDBN | Wilson disease not provided |
Reversed | 0 |
HGVS | NC_000013.10:g.52524268C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000145263.2, RCV000413599.1, |