rs775541743
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs775541743(A;T) |
Make rs775541743(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 13 |
Position | 51942481 |
Gene | ATP7B |
is a | snp |
is | mentioned by |
dbSNP | rs775541743 |
dbSNP (classic) | rs775541743 |
ClinGen | rs775541743 |
ebi | rs775541743 |
HLI | rs775541743 |
Exac | rs775541743 |
Gnomad | rs775541743 |
Varsome | rs775541743 |
LitVar | rs775541743 |
Map | rs775541743 |
PheGenI | rs775541743 |
Biobank | rs775541743 |
1000 genomes | rs775541743 |
hgdp | rs775541743 |
ensembl | rs775541743 |
geneview | rs775541743 |
scholar | rs775541743 |
rs775541743 | |
pharmgkb | rs775541743 |
gwascentral | rs775541743 |
openSNP | rs775541743 |
23andMe | rs775541743 |
SNPshot | rs775541743 |
SNPdbe | rs775541743 |
MSV3d | rs775541743 |
GWAS Ctlg | rs775541743 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs775541743(T;T) |
Alt | rs775541743(T;T) |
Reference | Rs775541743(A;A) |
Significance | Probable-Pathogenic |
Disease | Wilson disease |
Variation | info |
Gene | ATP7B |
CLNDBN | Wilson disease |
Reversed | 0 |
HGVS | NC_000013.10:g.52516617A>T |
CLNSRC | |
CLNACC | RCV000411980.1, |