rs794729211
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs794729211(A;A) |
Make rs794729211(A;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 12 |
Position | 56003721 |
Gene | SUOX |
is a | snp |
is | mentioned by |
dbSNP | rs794729211 |
dbSNP (classic) | rs794729211 |
ClinGen | rs794729211 |
ebi | rs794729211 |
HLI | rs794729211 |
Exac | rs794729211 |
Gnomad | rs794729211 |
Varsome | rs794729211 |
LitVar | rs794729211 |
Map | rs794729211 |
PheGenI | rs794729211 |
Biobank | rs794729211 |
1000 genomes | rs794729211 |
hgdp | rs794729211 |
ensembl | rs794729211 |
geneview | rs794729211 |
scholar | rs794729211 |
rs794729211 | |
pharmgkb | rs794729211 |
gwascentral | rs794729211 |
openSNP | rs794729211 |
23andMe | rs794729211 |
SNPshot | rs794729211 |
SNPdbe | rs794729211 |
MSV3d | rs794729211 |
GWAS Ctlg | rs794729211 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794729211(A;A) |
Alt | rs794729211(A;A) |
Reference | Rs794729211(T;T) |
Significance | Probable-Pathogenic |
Disease | Sulfite oxidase deficiency |
Variation | info |
Gene | SUOX |
CLNDBN | Sulfite oxidase deficiency |
Reversed | 0 |
HGVS | NC_000012.11:g.56397505T>A |
CLNSRC | |
CLNACC | RCV000184031.1, |