rs755554442
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs755554442(A;A) |
Make rs755554442(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 13 |
Position | 51941186 |
Gene | ATP7B |
is a | snp |
is | mentioned by |
dbSNP | rs755554442 |
dbSNP (classic) | rs755554442 |
ClinGen | rs755554442 |
ebi | rs755554442 |
HLI | rs755554442 |
Exac | rs755554442 |
Gnomad | rs755554442 |
Varsome | rs755554442 |
LitVar | rs755554442 |
Map | rs755554442 |
PheGenI | rs755554442 |
Biobank | rs755554442 |
1000 genomes | rs755554442 |
hgdp | rs755554442 |
ensembl | rs755554442 |
geneview | rs755554442 |
scholar | rs755554442 |
rs755554442 | |
pharmgkb | rs755554442 |
gwascentral | rs755554442 |
openSNP | rs755554442 |
23andMe | rs755554442 |
SNPshot | rs755554442 |
SNPdbe | rs755554442 |
MSV3d | rs755554442 |
GWAS Ctlg | rs755554442 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs755554442(A;A) |
Alt | rs755554442(A;A) |
Reference | Rs755554442(G;G) |
Significance | Probable-Pathogenic |
Disease | Wilson disease |
Variation | info |
Gene | ATP7B |
CLNDBN | Wilson disease |
Reversed | 0 |
HGVS | NC_000013.10:g.52515322G>A |
CLNSRC | |
CLNACC | RCV000169188.1, |