rs138584408
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs138584408(C;C) |
| Make rs138584408(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 240868867 |
| Gene | AGXT |
| is a | snp |
| is | mentioned by |
| dbSNP | rs138584408 |
| dbSNP (classic) | rs138584408 |
| ClinGen | rs138584408 |
| ebi | rs138584408 |
| HLI | rs138584408 |
| Exac | rs138584408 |
| Gnomad | rs138584408 |
| Varsome | rs138584408 |
| LitVar | rs138584408 |
| Map | rs138584408 |
| PheGenI | rs138584408 |
| Biobank | rs138584408 |
| 1000 genomes | rs138584408 |
| hgdp | rs138584408 |
| ensembl | rs138584408 |
| geneview | rs138584408 |
| scholar | rs138584408 |
| rs138584408 | |
| pharmgkb | rs138584408 |
| gwascentral | rs138584408 |
| openSNP | rs138584408 |
| 23andMe | rs138584408 |
| SNPshot | rs138584408 |
| SNPdbe | rs138584408 |
| MSV3d | rs138584408 |
| GWAS Ctlg | rs138584408 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs138584408(C;C) |
| Alt | rs138584408(C;C) |
| Reference | Rs138584408(T;T) |
| Significance | Pathogenic |
| Disease | Primary hyperoxaluria |
| Variation | info |
| Gene | AGXT |
| CLNDBN | Primary hyperoxaluria, type I |
| Reversed | 0 |
| HGVS | NC_000002.11:g.241808284T>C |
| CLNSRC | |
| CLNACC | RCV000186271.1, |
