rs768729972
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;A) | 3 | Carrier of a Wilson disease mutation |
Make rs768729972(A;A) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 13 |
Position | 51958500 |
Gene | ATP7B |
is a | snp |
is | mentioned by |
dbSNP | rs768729972 |
dbSNP (classic) | rs768729972 |
ClinGen | rs768729972 |
ebi | rs768729972 |
HLI | rs768729972 |
Exac | rs768729972 |
Gnomad | rs768729972 |
Varsome | rs768729972 |
LitVar | rs768729972 |
Map | rs768729972 |
PheGenI | rs768729972 |
Biobank | rs768729972 |
1000 genomes | rs768729972 |
hgdp | rs768729972 |
ensembl | rs768729972 |
geneview | rs768729972 |
scholar | rs768729972 |
rs768729972 | |
pharmgkb | rs768729972 |
gwascentral | rs768729972 |
openSNP | rs768729972 |
23andMe | rs768729972 |
SNPshot | rs768729972 |
SNPdbe | rs768729972 |
MSV3d | rs768729972 |
GWAS Ctlg | rs768729972 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs768729972(A;A) |
Alt | rs768729972(A;A) |
Reference | Rs768729972(-;-) |
Significance | Pathogenic |
Disease | Wilson disease |
Variation | info |
Gene | ATP7B |
CLNDBN | Wilson disease |
Reversed | 0 |
HGVS | NC_000013.10:g.52532637dupA |
CLNSRC | |
CLNACC | RCV000194439.1, |