rs369488210
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs369488210(A;A) |
Make rs369488210(A;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 13 |
Position | 52011283 |
Gene | ALG11, ATP7B |
is a | snp |
is | mentioned by |
dbSNP | rs369488210 |
dbSNP (classic) | rs369488210 |
ClinGen | rs369488210 |
ebi | rs369488210 |
HLI | rs369488210 |
Exac | rs369488210 |
Gnomad | rs369488210 |
Varsome | rs369488210 |
LitVar | rs369488210 |
Map | rs369488210 |
PheGenI | rs369488210 |
Biobank | rs369488210 |
1000 genomes | rs369488210 |
hgdp | rs369488210 |
ensembl | rs369488210 |
geneview | rs369488210 |
scholar | rs369488210 |
rs369488210 | |
pharmgkb | rs369488210 |
gwascentral | rs369488210 |
openSNP | rs369488210 |
23andMe | rs369488210 |
SNPshot | rs369488210 |
SNPdbe | rs369488210 |
MSV3d | rs369488210 |
GWAS Ctlg | rs369488210 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs369488210(A;A) |
Alt | rs369488210(A;A) |
Reference | Rs369488210(T;T) |
Significance | Probable-Pathogenic |
Disease | Wilson disease |
Variation | info |
Gene | ALG11 ATP7B |
CLNDBN | Wilson disease |
Reversed | 0 |
HGVS | NC_000013.10:g.52585419T>A |
CLNSRC | Illumina |
CLNACC | RCV000324263.1, |