rs4426527
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs4426527(A;G) |
| Make rs4426527(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 240878099 |
| Gene | AGXT |
| is a | snp |
| is | mentioned by |
| dbSNP | rs4426527 |
| dbSNP (classic) | rs4426527 |
| ClinGen | rs4426527 |
| ebi | rs4426527 |
| HLI | rs4426527 |
| Exac | rs4426527 |
| Gnomad | rs4426527 |
| Varsome | rs4426527 |
| LitVar | rs4426527 |
| Map | rs4426527 |
| PheGenI | rs4426527 |
| Biobank | rs4426527 |
| 1000 genomes | rs4426527 |
| hgdp | rs4426527 |
| ensembl | rs4426527 |
| geneview | rs4426527 |
| scholar | rs4426527 |
| rs4426527 | |
| pharmgkb | rs4426527 |
| gwascentral | rs4426527 |
| openSNP | rs4426527 |
| 23andMe | rs4426527 |
| SNPshot | rs4426527 |
| SNPdbe | rs4426527 |
| MSV3d | rs4426527 |
| GWAS Ctlg | rs4426527 |
| GMAF | 0.1368 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs4426527(G;G) |
| Alt | rs4426527(G;G) |
| Reference | Rs4426527(A;A) |
| Significance | Other |
| Disease | Primary hyperoxaluria not specified Primary hyperoxaluria |
| Variation | info |
| Gene | AGXT |
| CLNDBN | Primary hyperoxaluria, type I not specified Primary hyperoxaluria |
| Reversed | 0 |
| HGVS | NC_000002.11:g.241817516A>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000032682.7, RCV000247828.2, RCV000389779.1, |
