rs758355520
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 3 | Carrier of a Wilson disease mutation |
(G;G) | 0 | common in clinvar |
Make rs758355520(A;A) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 13 |
Position | 51937561 |
Gene | ATP7B |
is a | snp |
is | mentioned by |
dbSNP | rs758355520 |
dbSNP (classic) | rs758355520 |
ClinGen | rs758355520 |
ebi | rs758355520 |
HLI | rs758355520 |
Exac | rs758355520 |
Gnomad | rs758355520 |
Varsome | rs758355520 |
LitVar | rs758355520 |
Map | rs758355520 |
PheGenI | rs758355520 |
Biobank | rs758355520 |
1000 genomes | rs758355520 |
hgdp | rs758355520 |
ensembl | rs758355520 |
geneview | rs758355520 |
scholar | rs758355520 |
rs758355520 | |
pharmgkb | rs758355520 |
gwascentral | rs758355520 |
openSNP | rs758355520 |
23andMe | rs758355520 |
SNPshot | rs758355520 |
SNPdbe | rs758355520 |
MSV3d | rs758355520 |
GWAS Ctlg | rs758355520 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs758355520(A;A) |
Alt | rs758355520(A;A) |
Reference | Rs758355520(G;G) |
Significance | Probable-Pathogenic |
Disease | Wilson disease |
Variation | info |
Gene | ATP7B |
CLNDBN | Wilson disease |
Reversed | 0 |
HGVS | NC_000013.10:g.52511697G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000169558.1, |