rs374094065
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs374094065(G;G) |
Make rs374094065(G;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 13 |
Position | 51944161 |
Gene | ATP7B |
is a | snp |
is | mentioned by |
dbSNP | rs374094065 |
dbSNP (classic) | rs374094065 |
ClinGen | rs374094065 |
ebi | rs374094065 |
HLI | rs374094065 |
Exac | rs374094065 |
Gnomad | rs374094065 |
Varsome | rs374094065 |
LitVar | rs374094065 |
Map | rs374094065 |
PheGenI | rs374094065 |
Biobank | rs374094065 |
1000 genomes | rs374094065 |
hgdp | rs374094065 |
ensembl | rs374094065 |
geneview | rs374094065 |
scholar | rs374094065 |
rs374094065 | |
pharmgkb | rs374094065 |
gwascentral | rs374094065 |
openSNP | rs374094065 |
23andMe | rs374094065 |
SNPshot | rs374094065 |
SNPdbe | rs374094065 |
MSV3d | rs374094065 |
GWAS Ctlg | rs374094065 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs374094065(G;G) |
Alt | rs374094065(G;G) |
Reference | Rs374094065(T;T) |
Significance | Probable-Pathogenic |
Disease | Wilson disease |
Variation | info |
Gene | ATP7B |
CLNDBN | Wilson disease |
Reversed | 0 |
HGVS | NC_000013.10:g.52518297T>G |
CLNSRC | |
CLNACC | RCV000411652.1, |