rs146525143
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs146525143(C;C) |
Make rs146525143(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 240875980 |
Gene | AGXT |
is a | snp |
is | mentioned by |
dbSNP | rs146525143 |
dbSNP (classic) | rs146525143 |
ClinGen | rs146525143 |
ebi | rs146525143 |
HLI | rs146525143 |
Exac | rs146525143 |
Gnomad | rs146525143 |
Varsome | rs146525143 |
LitVar | rs146525143 |
Map | rs146525143 |
PheGenI | rs146525143 |
Biobank | rs146525143 |
1000 genomes | rs146525143 |
hgdp | rs146525143 |
ensembl | rs146525143 |
geneview | rs146525143 |
scholar | rs146525143 |
rs146525143 | |
pharmgkb | rs146525143 |
gwascentral | rs146525143 |
openSNP | rs146525143 |
23andMe | rs146525143 |
SNPshot | rs146525143 |
SNPdbe | rs146525143 |
MSV3d | rs146525143 |
GWAS Ctlg | rs146525143 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs146525143(C;C) |
Alt | rs146525143(C;C) |
Reference | Rs146525143(G;G) |
Significance | Pathogenic |
Disease | Primary hyperoxaluria |
Variation | info |
Gene | AGXT |
CLNDBN | Primary hyperoxaluria, type I |
Reversed | 0 |
HGVS | NC_000002.11:g.241815397G>C |
CLNSRC | |
CLNACC | RCV000186335.1, |