rs779904655
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;AGCATAT) | 3 | Carrier of a Wilson disease mutation |
(AGCATAT;AGCATAT) | 0 | common in clinvar |
Make rs779904655(-;-) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 13 |
Position | 51960254 |
Gene | ATP7B |
is a | snp |
is | mentioned by |
dbSNP | rs779904655 |
dbSNP (classic) | rs779904655 |
ClinGen | rs779904655 |
ebi | rs779904655 |
HLI | rs779904655 |
Exac | rs779904655 |
Gnomad | rs779904655 |
Varsome | rs779904655 |
LitVar | rs779904655 |
Map | rs779904655 |
PheGenI | rs779904655 |
Biobank | rs779904655 |
1000 genomes | rs779904655 |
hgdp | rs779904655 |
ensembl | rs779904655 |
geneview | rs779904655 |
scholar | rs779904655 |
rs779904655 | |
pharmgkb | rs779904655 |
gwascentral | rs779904655 |
openSNP | rs779904655 |
23andMe | rs779904655 |
SNPshot | rs779904655 |
SNPdbe | rs779904655 |
MSV3d | rs779904655 |
GWAS Ctlg | rs779904655 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs779904655(-;-) |
Alt | rs779904655(-;-) |
Reference | Rs779904655(AGCATAT;AGCATAT) |
Significance | Probable-Pathogenic |
Disease | Wilson disease |
Variation | info |
Gene | ATP7B |
CLNDBN | Wilson disease |
Reversed | 0 |
HGVS | NC_000013.10:g.52534390_52534396delAGCATAT |
CLNSRC | Counsyl |
CLNACC | RCV000169214.1, |