rs80359820
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs80359820(A;A) |
| Make rs80359820(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 42930706 |
| Gene | SLC2A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80359820 |
| dbSNP (classic) | rs80359820 |
| ClinGen | rs80359820 |
| ebi | rs80359820 |
| HLI | rs80359820 |
| Exac | rs80359820 |
| Gnomad | rs80359820 |
| Varsome | rs80359820 |
| LitVar | rs80359820 |
| Map | rs80359820 |
| PheGenI | rs80359820 |
| Biobank | rs80359820 |
| 1000 genomes | rs80359820 |
| hgdp | rs80359820 |
| ensembl | rs80359820 |
| geneview | rs80359820 |
| scholar | rs80359820 |
| rs80359820 | |
| pharmgkb | rs80359820 |
| gwascentral | rs80359820 |
| openSNP | rs80359820 |
| 23andMe | rs80359820 |
| SNPshot | rs80359820 |
| SNPdbe | rs80359820 |
| MSV3d | rs80359820 |
| GWAS Ctlg | rs80359820 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs80359820(A;A) |
| Alt | rs80359820(A;A) |
| Reference | Rs80359820(G;G) |
| Significance | Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | SLC2A1 |
| CLNDBN | not provided |
| Reversed | 1 |
| HGVS | NC_000001.10:g.43396377C>G |
| CLNSRC | |
| CLNACC | RCV000189353.1, |
[PMID 15622525] Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects.
