rs758115611
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(D;D) | 0 | common genotype |
Make rs758115611(-;T) |
Make rs758115611(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 13 |
Position | 51974694 |
Gene | ATP7B |
is a | snp |
is | mentioned by |
dbSNP | rs758115611 |
dbSNP (classic) | rs758115611 |
ClinGen | rs758115611 |
ebi | rs758115611 |
HLI | rs758115611 |
Exac | rs758115611 |
Gnomad | rs758115611 |
Varsome | rs758115611 |
LitVar | rs758115611 |
Map | rs758115611 |
PheGenI | rs758115611 |
Biobank | rs758115611 |
1000 genomes | rs758115611 |
hgdp | rs758115611 |
ensembl | rs758115611 |
geneview | rs758115611 |
scholar | rs758115611 |
rs758115611 | |
pharmgkb | rs758115611 |
gwascentral | rs758115611 |
openSNP | rs758115611 |
23andMe | rs758115611 |
SNPshot | rs758115611 |
SNPdbe | rs758115611 |
MSV3d | rs758115611 |
GWAS Ctlg | rs758115611 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs758115611(T;T) |
Alt | rs758115611(T;T) |
Reference | Rs758115611(-;-) |
Significance | Pathogenic |
Disease | Wilson disease |
Variation | info |
Gene | ATP7B |
CLNDBN | Wilson disease |
Reversed | 0 |
HGVS | NC_000013.10:g.52548831dupT |
CLNSRC | |
CLNACC | RCV000411870.1, |