rs184388696
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;C) | 3 | Carrier of a Wilson disease mutation |
(C;C) | 0 | common in clinvar |
(C;T) | 3 | Carrier of a Wilson disease mutation |
Make rs184388696(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 13 |
Position | 51941080 |
Gene | ATP7B |
is a | snp |
is | mentioned by |
dbSNP | rs184388696 |
dbSNP (classic) | rs184388696 |
ClinGen | rs184388696 |
ebi | rs184388696 |
HLI | rs184388696 |
Exac | rs184388696 |
Gnomad | rs184388696 |
Varsome | rs184388696 |
LitVar | rs184388696 |
Map | rs184388696 |
PheGenI | rs184388696 |
Biobank | rs184388696 |
1000 genomes | rs184388696 |
hgdp | rs184388696 |
ensembl | rs184388696 |
geneview | rs184388696 |
scholar | rs184388696 |
rs184388696 | |
pharmgkb | rs184388696 |
gwascentral | rs184388696 |
openSNP | rs184388696 |
23andMe | rs184388696 |
SNPshot | rs184388696 |
SNPdbe | rs184388696 |
MSV3d | rs184388696 |
GWAS Ctlg | rs184388696 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs184388696(T;T) |
Alt | rs184388696(T;T) |
Reference | Rs184388696(C;C) |
Significance | Probable-Pathogenic |
Disease | Wilson disease |
Variation | info |
Gene | ATP7B |
CLNDBN | Wilson disease |
Reversed | 0 |
HGVS | NC_000013.10:g.52515216C>T |
CLNSRC | |
CLNACC | RCV000169452.1, |