rs748924063
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs748924063(-;A) |
Make rs748924063(A;A) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 13 |
Position | 51941084 |
Gene | ATP7B |
is a | snp |
is | mentioned by |
dbSNP | rs748924063 |
dbSNP (classic) | rs748924063 |
ClinGen | rs748924063 |
ebi | rs748924063 |
HLI | rs748924063 |
Exac | rs748924063 |
Gnomad | rs748924063 |
Varsome | rs748924063 |
LitVar | rs748924063 |
Map | rs748924063 |
PheGenI | rs748924063 |
Biobank | rs748924063 |
1000 genomes | rs748924063 |
hgdp | rs748924063 |
ensembl | rs748924063 |
geneview | rs748924063 |
scholar | rs748924063 |
rs748924063 | |
pharmgkb | rs748924063 |
gwascentral | rs748924063 |
openSNP | rs748924063 |
23andMe | rs748924063 |
SNPshot | rs748924063 |
SNPdbe | rs748924063 |
MSV3d | rs748924063 |
GWAS Ctlg | rs748924063 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs748924063(A;A) |
Alt | rs748924063(A;A) |
Reference | Rs748924063(-;-) |
Significance | Probable-Pathogenic |
Disease | Wilson disease |
Variation | info |
Gene | ATP7B |
CLNDBN | Wilson disease |
Reversed | 0 |
HGVS | NC_000013.10:g.52515221dupA |
CLNSRC | |
CLNACC | RCV000169520.1, |