rs60431989
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;G) | 3 | Carrier of a Wilson disease mutation |
Make rs60431989(G;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 13 |
Position | 51941194 |
Gene | ATP7B |
is a | snp |
is | mentioned by |
dbSNP | rs60431989 |
dbSNP (classic) | rs60431989 |
ClinGen | rs60431989 |
ebi | rs60431989 |
HLI | rs60431989 |
Exac | rs60431989 |
Gnomad | rs60431989 |
Varsome | rs60431989 |
LitVar | rs60431989 |
Map | rs60431989 |
PheGenI | rs60431989 |
Biobank | rs60431989 |
1000 genomes | rs60431989 |
hgdp | rs60431989 |
ensembl | rs60431989 |
geneview | rs60431989 |
scholar | rs60431989 |
rs60431989 | |
pharmgkb | rs60431989 |
gwascentral | rs60431989 |
openSNP | rs60431989 |
23andMe | rs60431989 |
SNPshot | rs60431989 |
SNPdbe | rs60431989 |
MSV3d | rs60431989 |
GWAS Ctlg | rs60431989 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs60431989(G;G) |
Alt | rs60431989(G;G) |
Reference | Rs60431989(A;A) |
Significance | Other |
Disease | Wilson disease |
Variation | info |
Gene | ATP7B |
CLNDBN | Wilson disease |
Reversed | 0 |
HGVS | NC_000013.10:g.52515330A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000004067.3, RCV000023582.5, |