rs879255499
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AGGTGGCCGAGACCG;AGGTGGCCGAGACCG) | 0 | common in clinvar |
Make rs879255499(-;-) |
Make rs879255499(-;CGAGGTGGCCGAGAC) |
Make rs879255499(CGAGGTGGCCGAGAC;CGAGGTGGCCGAGAC) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 13 |
Position | 52011764 |
Gene | ALG11, ATP7B |
is a | snp |
is | mentioned by |
dbSNP | rs879255499 |
dbSNP (classic) | rs879255499 |
ClinGen | rs879255499 |
ebi | rs879255499 |
HLI | rs879255499 |
Exac | rs879255499 |
Gnomad | rs879255499 |
Varsome | rs879255499 |
LitVar | rs879255499 |
Map | rs879255499 |
PheGenI | rs879255499 |
Biobank | rs879255499 |
1000 genomes | rs879255499 |
hgdp | rs879255499 |
ensembl | rs879255499 |
geneview | rs879255499 |
scholar | rs879255499 |
rs879255499 | |
pharmgkb | rs879255499 |
gwascentral | rs879255499 |
openSNP | rs879255499 |
23andMe | rs879255499 |
SNPshot | rs879255499 |
SNPdbe | rs879255499 |
MSV3d | rs879255499 |
GWAS Ctlg | rs879255499 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs879255499(-;-) |
Alt | rs879255499(-;-) |
Reference | Rs879255499(AGGTGGCCGAGACCG;AGGTGGCCGAGACCG) |
Significance | Pathogenic |
Disease | Wilson disease |
Variation | info |
Gene | ALG11 ATP7B |
CLNDBN | Wilson disease |
Reversed | 1 |
HGVS | NC_000013.10:g.52585900_52585914delGTCTCGGCCACCTCG |
CLNSRC | |
CLNACC | RCV000239371.1, |