rs796052071
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CTC;CTC) | 0 | common in clinvar |
Make rs796052071(-;-) |
Make rs796052071(-;TCC) |
Make rs796052071(TCC;TCC) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 240874043 |
Gene | AGXT |
is a | snp |
is | mentioned by |
dbSNP | rs796052071 |
dbSNP (classic) | rs796052071 |
ClinGen | rs796052071 |
ebi | rs796052071 |
HLI | rs796052071 |
Exac | rs796052071 |
Gnomad | rs796052071 |
Varsome | rs796052071 |
LitVar | rs796052071 |
Map | rs796052071 |
PheGenI | rs796052071 |
Biobank | rs796052071 |
1000 genomes | rs796052071 |
hgdp | rs796052071 |
ensembl | rs796052071 |
geneview | rs796052071 |
scholar | rs796052071 |
rs796052071 | |
pharmgkb | rs796052071 |
gwascentral | rs796052071 |
openSNP | rs796052071 |
23andMe | rs796052071 |
SNPshot | rs796052071 |
SNPdbe | rs796052071 |
MSV3d | rs796052071 |
GWAS Ctlg | rs796052071 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs796052071(-;-) |
Alt | rs796052071(-;-) |
Reference | Rs796052071(CTC;CTC) |
Significance | Pathogenic |
Disease | Primary hyperoxaluria |
Variation | info |
Gene | AGXT |
CLNDBN | Primary hyperoxaluria, type I |
Reversed | 0 |
HGVS | NC_000002.11:g.241813460_241813462delTCC |
CLNSRC | |
CLNACC | RCV000186401.1, |