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, |
