rs111742810
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs111742810(A;A) |
Make rs111742810(A;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 240874064 |
Gene | AGXT |
is a | snp |
is | mentioned by |
dbSNP | rs111742810 |
dbSNP (classic) | rs111742810 |
ClinGen | rs111742810 |
ebi | rs111742810 |
HLI | rs111742810 |
Exac | rs111742810 |
Gnomad | rs111742810 |
Varsome | rs111742810 |
LitVar | rs111742810 |
Map | rs111742810 |
PheGenI | rs111742810 |
Biobank | rs111742810 |
1000 genomes | rs111742810 |
hgdp | rs111742810 |
ensembl | rs111742810 |
geneview | rs111742810 |
scholar | rs111742810 |
rs111742810 | |
pharmgkb | rs111742810 |
gwascentral | rs111742810 |
openSNP | rs111742810 |
23andMe | rs111742810 |
SNPshot | rs111742810 |
SNPdbe | rs111742810 |
MSV3d | rs111742810 |
GWAS Ctlg | rs111742810 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs111742810(A;A) |
Alt | rs111742810(A;A) |
Reference | Rs111742810(T;T) |
Significance | Pathogenic |
Disease | Primary hyperoxaluria |
Variation | info |
Gene | AGXT |
CLNDBN | Primary hyperoxaluria, type I |
Reversed | 0 |
HGVS | NC_000002.11:g.241813481T>A |
CLNSRC | |
CLNACC | RCV000186362.1, |