rs781266802
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CAGAAC;CAGAAC) | 0 | common in clinvar |
Make rs781266802(-;-) |
Make rs781266802(-;CAGAAC) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 13 |
Position | 51939096 |
Gene | ATP7B |
is a | snp |
is | mentioned by |
dbSNP | rs781266802 |
dbSNP (classic) | rs781266802 |
ClinGen | rs781266802 |
ebi | rs781266802 |
HLI | rs781266802 |
Exac | rs781266802 |
Gnomad | rs781266802 |
Varsome | rs781266802 |
LitVar | rs781266802 |
Map | rs781266802 |
PheGenI | rs781266802 |
Biobank | rs781266802 |
1000 genomes | rs781266802 |
hgdp | rs781266802 |
ensembl | rs781266802 |
geneview | rs781266802 |
scholar | rs781266802 |
rs781266802 | |
pharmgkb | rs781266802 |
gwascentral | rs781266802 |
openSNP | rs781266802 |
23andMe | rs781266802 |
SNPshot | rs781266802 |
SNPdbe | rs781266802 |
MSV3d | rs781266802 |
GWAS Ctlg | rs781266802 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs781266802(-;-) |
Alt | rs781266802(-;-) |
Reference | Rs781266802(CAGAAC;CAGAAC) |
Significance | Probable-Pathogenic |
Disease | Wilson disease |
Variation | info |
Gene | ATP7B |
CLNDBN | Wilson disease |
Reversed | 0 |
HGVS | NC_000013.10:g.52513232_52513237delCAGAAC |
CLNSRC | Counsyl |
CLNACC | RCV000169402.1, |