rs398122322
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs398122322(-;C) |
Make rs398122322(C;C) |
Reference | GRCh38 38.1/142 |
Chromosome | 2 |
Position | 240868898 |
Gene | AGXT |
is a | snp |
is | mentioned by |
dbSNP | rs398122322 |
dbSNP (classic) | rs398122322 |
ClinGen | rs398122322 |
ebi | rs398122322 |
HLI | rs398122322 |
Exac | rs398122322 |
Gnomad | rs398122322 |
Varsome | rs398122322 |
LitVar | rs398122322 |
Map | rs398122322 |
PheGenI | rs398122322 |
Biobank | rs398122322 |
1000 genomes | rs398122322 |
hgdp | rs398122322 |
ensembl | rs398122322 |
geneview | rs398122322 |
scholar | rs398122322 |
rs398122322 | |
pharmgkb | rs398122322 |
gwascentral | rs398122322 |
openSNP | rs398122322 |
23andMe | rs398122322 |
SNPshot | rs398122322 |
SNPdbe | rs398122322 |
MSV3d | rs398122322 |
GWAS Ctlg | rs398122322 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398122322(C;C) |
Alt | rs398122322(C;C) |
Reference | Rs398122322(-;-) |
Significance | Pathogenic |
Disease | Primary hyperoxaluria |
Variation | info |
Gene | AGXT |
CLNDBN | Primary hyperoxaluria, type I |
Reversed | 0 |
HGVS | NC_000002.11:g.241808315dupC |
CLNSRC | ClinVar |
CLNACC | RCV000128800.3, |