rs111996685
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs111996685(A;A) |
| Make rs111996685(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 240874063 |
| Gene | AGXT |
| is a | snp |
| is | mentioned by |
| dbSNP | rs111996685 |
| dbSNP (classic) | rs111996685 |
| ClinGen | rs111996685 |
| ebi | rs111996685 |
| HLI | rs111996685 |
| Exac | rs111996685 |
| Gnomad | rs111996685 |
| Varsome | rs111996685 |
| LitVar | rs111996685 |
| Map | rs111996685 |
| PheGenI | rs111996685 |
| Biobank | rs111996685 |
| 1000 genomes | rs111996685 |
| hgdp | rs111996685 |
| ensembl | rs111996685 |
| geneview | rs111996685 |
| scholar | rs111996685 |
| rs111996685 | |
| pharmgkb | rs111996685 |
| gwascentral | rs111996685 |
| openSNP | rs111996685 |
| 23andMe | rs111996685 |
| SNPshot | rs111996685 |
| SNPdbe | rs111996685 |
| MSV3d | rs111996685 |
| GWAS Ctlg | rs111996685 |
| Max Magnitude | 0 |
AGXT c.680+1G>A and c.680+1G>C (both are pathogenic according to ClinVar)
| ClinVar | |
|---|---|
| Risk | rs111996685(A;A) rs111996685(C;C) |
| Alt | rs111996685(A;A) rs111996685(C;C) |
| Reference | Rs111996685(G;G) |
| Significance | Pathogenic |
| Disease | Primary hyperoxaluria |
| Variation | info |
| Gene | AGXT |
| CLNDBN | Primary hyperoxaluria, type I |
| Reversed | 0 |
| HGVS | NC_000002.11:g.241813480G>A; NC_000002.11:g.241813480G>C |
| CLNSRC | |
| CLNACC | RCV000186361.1, RCV000186360.1, |
