rs796052075
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CG;CG) | 0 | common in clinvar |
Make rs796052075(-;-) |
Make rs796052075(-;CG) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 240878752 |
Gene | AGXT |
is a | snp |
is | mentioned by |
dbSNP | rs796052075 |
dbSNP (classic) | rs796052075 |
ClinGen | rs796052075 |
ebi | rs796052075 |
HLI | rs796052075 |
Exac | rs796052075 |
Gnomad | rs796052075 |
Varsome | rs796052075 |
LitVar | rs796052075 |
Map | rs796052075 |
PheGenI | rs796052075 |
Biobank | rs796052075 |
1000 genomes | rs796052075 |
hgdp | rs796052075 |
ensembl | rs796052075 |
geneview | rs796052075 |
scholar | rs796052075 |
rs796052075 | |
pharmgkb | rs796052075 |
gwascentral | rs796052075 |
openSNP | rs796052075 |
23andMe | rs796052075 |
SNPshot | rs796052075 |
SNPdbe | rs796052075 |
MSV3d | rs796052075 |
GWAS Ctlg | rs796052075 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs796052075(-;-) |
Alt | rs796052075(-;-) |
Reference | Rs796052075(CG;CG) |
Significance | Pathogenic |
Disease | Primary hyperoxaluria |
Variation | info |
Gene | AGXT |
CLNDBN | Primary hyperoxaluria, type I |
Reversed | 0 |
HGVS | NC_000002.11:g.241818169_241818170delCG |
CLNSRC | |
CLNACC | RCV000186418.1, |