rs797045402
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 3 | Carrier of a Wilson disease mutation |
(G;G) | 0 | common in clinvar |
Make rs797045402(A;A) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 13 |
Position | 51964969 |
Gene | ATP7B |
is a | snp |
is | mentioned by |
dbSNP | rs797045402 |
dbSNP (classic) | rs797045402 |
ClinGen | rs797045402 |
ebi | rs797045402 |
HLI | rs797045402 |
Exac | rs797045402 |
Gnomad | rs797045402 |
Varsome | rs797045402 |
LitVar | rs797045402 |
Map | rs797045402 |
PheGenI | rs797045402 |
Biobank | rs797045402 |
1000 genomes | rs797045402 |
hgdp | rs797045402 |
ensembl | rs797045402 |
geneview | rs797045402 |
scholar | rs797045402 |
rs797045402 | |
pharmgkb | rs797045402 |
gwascentral | rs797045402 |
openSNP | rs797045402 |
23andMe | rs797045402 |
SNPshot | rs797045402 |
SNPdbe | rs797045402 |
MSV3d | rs797045402 |
GWAS Ctlg | rs797045402 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs797045402(A;A) |
Alt | rs797045402(A;A) |
Reference | Rs797045402(G;G) |
Significance | Probable-Pathogenic |
Disease | Wilson disease |
Variation | info |
Gene | ATP7B |
CLNDBN | Wilson disease |
Reversed | 1 |
HGVS | NC_000013.10:g.52539105C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000193403.1, |